P12883
EV
Gene name |
MYH7 (MYHCB) |
Protein name |
Myosin-7 |
Names |
Myosin heavy chain 7, Myosin heavy chain slow isoform, MyHC-slow, Myosin heavy chain, cardiac muscle beta isoform, MyHC-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4625 |
EC number |
|
Protein Class |
MYOSIN HEAVY CHAIN, NON-MUSCLE (PTHR45615) |
Descriptions
Myosin-7 (MYH7, also named Myosin heavy chain, cardiac muscle β isoform) is an actin-based motor molecule with ATPase activity essential for muscle contraction. Several mutations in MYH7 are frequent causes of hypertrophic cardiomyopathy (HCM), a disease characterized by hypercontractility and eventual hypertrophy of the left ventricle. Many HCM-causing mutations appear to reduce myosin's ability to form an autoinhibited state. In an autoinhibited state, the myosin heads fold back onto their own subfragment 2 (S2) tail in a conformation known as the interacting heads motif (IHM). One of the two heads in the dimer has its actin-binding interface buried in the folded structure; this head is referred to as the blocked head, while the other is called the free head, since its actin-binding interface is not hidden structurally. Many myosin types have the folded back IHM structure. The IHM structure correlates to an ultra-low basal ATPase rate in the absence of an action called the 'super relaxed state'. Heads lacking the S2 tail mostly have a faster basal ATPase rate referred to as the 'disordered relaxed state'. Especially, mutations in the myosin lever arm or the pliant region of the lever arm can affect myosin function either by altering its intrinsic motor activity, and/or reducing its ability to form the autoinhibited state.
Autoinhibitory domains (AIDs)
Target domain |
79-779 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
30 structures for P12883
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2FXM | X-ray | 270 A | A/B | 838-963 | PDB |
| 2FXO | X-ray | 250 A | A/B/C/D | 838-963 | PDB |
| 3DTP | EM | 2000 A | PDB | ||
| 4DB1 | X-ray | 260 A | A/B | 2-783 | PDB |
| 4P7H | X-ray | 320 A | A/B | 1-787 | PDB |
| 4PA0 | X-ray | 225 A | A/B | 1-787 | PDB |
| 4XA1 | X-ray | 320 A | A/B/C/D | 1173-1238 | PDB |
| 4XA3 | X-ray | 255 A | A/B | 1361-1425 | PDB |
| 4XA4 | X-ray | 233 A | A/B | 1551-1609 | PDB |
| 4XA6 | X-ray | 342 A | A/B/C/D | 1777-1855 | PDB |
| 5CHX | X-ray | 230 A | A/B | 1590-1657 | PDB |
| 5CJ0 | X-ray | 230 A | A/B | 1631-1692 | PDB |
| 5CJ1 | X-ray | 210 A | A/B/C/D/E/F/G/H | 1526-1571 | PDB |
| 5CJ4 | X-ray | 310 A | A/B/C/D | 1562-1622 | PDB |
| 5TBY | EM | 2000 A | A/B | 1-1935 | PDB |
| 5WJ7 | X-ray | 250 A | A/B | 1733-1797 | PDB |
| 5WJB | X-ray | 290 A | A/B/C/D | 1733-1797 | PDB |
| 5WLQ | X-ray | 310 A | A | 1677-1755 | PDB |
| 5WLZ | X-ray | 350 A | A/B/C/D | 1677-1758 | PDB |
| 5WME | X-ray | 230 A | A/B/C/D | 1730-1786 | PDB |
| 6PF2 | X-ray | 217 A | A/B | 1217-1276 | PDB |
| 6PFP | X-ray | 220 A | A/B/C/D | 1473-1536 | PDB |
| 8ACT | EM | 360 A | A/B | 3-906 | PDB |
| 8EFD | EM | 380 A | A | 1-842 | PDB |
| 8EFE | EM | 380 A | A | 1-842 | PDB |
| 8EFH | EM | 330 A | A | 1-842 | PDB |
| 8EFI | EM | 340 A | M | 1-1935 | PDB |
| 8ENC | EM | 360 A | M | 1-1935 | PDB |
| 8G4L | EM | 640 A | A/AA/AB/AG/AH/AI/AJ/AK/AL/AM/AN/AO/AP/AQ/AR/AS/AT/AU/AV/AW/AX/AY/AZ/B/BA/BB/BG/BH/BI/BJ | 1-1935 | PDB |
| AF-P12883-F1 | Predicted | AlphaFoldDB |
2546 variants for P12883
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs139250539 RCV001071024 |
1 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002486174 RCV001303919 rs1893043424 |
3 | D>E | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000435665 RCV000548210 CA027806 rs758659692 RCV001524329 RCV002282140 COSM124613 |
4 | S>L | upper_aerodigestive_tract Cardiomyopathy Variant assessed as Somatic; MODERATE impact. large_intestine Hypertrophic cardiomyopathy [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA389054232 RCV000628862 rs758659692 |
4 | S>W | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389054221 RCV001062363 rs1223890089 |
5 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001246915 RCV001788432 RCV002411908 rs779276614 CA029407 |
6 | M>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA032179 RCV002469219 RCV001340584 RCV000617948 rs754388460 RCV001185759 |
8 | V>I | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA013294 RCV000158720 RCV001525375 rs730880826 RCV001366152 |
10 | G>A | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000156860 RCV000154353 RCV003320109 RCV000172568 RCV001171226 CA013184 CA013193 RCV001111655 RCV000629143 RCV001112127 RCV001171227 RCV001111654 rs199577321 |
10 | G>R | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759231966 RCV003233499 COSM1216234 RCV002354609 RCV000222798 CA038963 RCV001062631 RCV001191614 |
13 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. large_intestine Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001202769 rs1893041022 |
16 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003147322 RCV001188090 CA015539 RCV003147318 RCV003147323 RCV003320083 RCV001370021 RCV000035944 rs45511396 RCV001555196 RCV003147321 |
17 | R>C | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001093026 RCV002345473 RCV001185781 rs727503280 RCV001338885 RCV000151316 CA015673 |
17 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA015880 rs730880827 RCV000158721 RCV002516386 |
18 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002505190 RCV000778010 COSM954789 rs730880828 CA016626 RCV001235446 RCV000158722 |
23 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002486159 rs775643803 CA049057 RCV001300552 |
26 | A>T | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002490429 VAR_004566 RCV003320037 RCV000319538 RCV000279740 CA016817 RCV000374158 RCV000148713 RCV000758056 RCV000618296 RCV000721101 RCV000168831 RCV000334846 rs186964570 RCV000036003 |
26 | A>V | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10583175 rs878853843 RCV002417989 RCV000229274 RCV002494622 |
27 | Q>R | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389053958 rs1595091475 RCV000794189 |
30 | P>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001773420 RCV001177249 rs1016438334 |
30 | P>S | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000148712 RCV001550051 RCV000559649 VAR_019845 RCV000035703 RCV001175842 RCV003162305 rs376160714 CA010307 |
39 | V>M | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001036517 rs1157169154 CA389053839 RCV001699501 |
41 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002484038 RCV001190030 CA027886 rs780785242 |
42 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000798802 rs1364012197 |
43 | K>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010647 RCV000617464 RCV000035719 rs397516102 CA389053787 RCV002531866 |
45 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000206071 rs864622383 CA350127 |
45 | E>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516104 RCV000035721 RCV000770505 CA010662 |
46 | F>C | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893036458 RCV001171225 |
46 | F>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893035421 RCV001342937 |
51 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001184589 rs730880919 |
52 | V>L | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002399576 RCV000158876 RCV002515079 rs730880919 RCV001184493 CA010937 |
52 | V>M | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001188215 rs1893034734 RCV002560013 |
53 | S>Y | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402715 COSM4469637 CA257826887 RCV001228344 rs761841748 |
54 | R>* | Variant assessed as Somatic; HIGH impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs397516117 RCV002533965 CA028998 RCV000770504 |
54 | R>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000624709 RCV001756026 COSM344281 CA389053702 RCV002532844 rs397516117 |
54 | R>P | lung Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000035737 CA011076 rs397516117 RCV000157346 RCV000697237 RCV001189903 COSM4617512 |
54 | R>Q | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs727504870 RCV001307082 CA011120 RCV000156232 |
56 | G>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs759500431 RCV001186283 |
56 | G>C | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001776199 RCV001326401 rs759500431 CA029071 |
56 | G>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs727504870 RCV001059325 |
56 | G>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_004567 rs771132107 CA029319 |
59 | V>I | CMH1 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs727504416 RCV000770503 CA011346 RCV000154607 RCV002514971 |
62 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA389053596 RCV000785045 rs934278063 |
65 | Y>* | MYH7-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1893032620 RCV001233860 |
66 | G>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1327007939 COSM5092075 RCV001249303 CA389053511 RCV000691796 |
70 | T>I | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1327007939 RCV000793519 CA389053509 |
70 | T>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA011657 RCV000035760 rs397516129 RCV002513359 |
70 | T>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000168833 RCV000537548 RCV002484983 COSM1493255 RCV003298186 RCV001174729 CA011723 rs730880830 RCV001180300 |
71 | V>M | kidney Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000698011 rs730880831 RCV000158726 CA011994 |
74 | D>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001813816 CA389053384 RCV001224750 rs1489940065 |
81 | P>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs770246266 CA033179 RCV001312602 |
85 | D>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000806821 rs770246266 CA389053349 RCV001183898 |
85 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001226587 rs768274526 |
87 | I>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044488 rs1893017457 |
90 | M>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893017067 RCV001171224 |
91 | A>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389053267 RCV001203247 RCV001562869 rs1222065426 |
92 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1893016563 RCV001206755 |
96 | L>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1440846436 RCV001341891 |
98 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1216236 RCV002433691 CA013285 RCV001189904 RCV000157347 RCV000455842 RCV001850185 rs730880154 |
100 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. large_intestine Hypertrophic cardiomyopathy Restrictive cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000218742 CA10576964 rs876657882 RCV001056161 |
100 | A>V | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1893015705 RCV001306601 |
104 | N>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893015309 COSM2031889 RCV001206234 |
108 | R>C | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV000989194 RCV000158727 RCV002444658 RCV001185244 rs730880832 RCV001770120 CA013482 RCV001797642 |
108 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Dilated cardiomyopathy 1S Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000805519 CA389053070 rs36211408 |
109 | Y>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1595091003 RCV001525075 RCV000809182 CA389053042 |
113 | M>K | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001183174 rs1893014420 |
113 | M>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703364 rs730880833 CA389053036 |
114 | I>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA013685 rs730880833 RCV001524837 RCV002492628 RCV000158728 RCV002453549 RCV000543876 RCV000825644 |
114 | I>T | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000805486 RCV003162308 rs397516183 VAR_042762 CA013702 RCV000769467 RCV001195101 |
115 | Y>H | Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001078854 CA013791 RCV000172051 RCV000156029 RCV001113561 RCV002336333 RCV001189969 RCV003320113 rs201012865 RCV001113562 |
117 | Y>F | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_020797 rs1184284157 CA389052958 |
124 | T>I | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000158501 CA014018 rs730880729 RCV002515070 COSM1216239 |
125 | V>I | large_intestine Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1417172313 CA389052887 RCV000520262 RCV001180381 RCV001038789 |
135 | T>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1173171288 RCV001038787 CA389052870 RCV000522426 |
138 | V>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001180662 rs1892999203 |
143 | R>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_042763 CA257826585 rs727503278 |
143 | R>G | CMH1 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000158731 VAR_004568 RCV002326728 RCV002496545 CA014774 RCV000477095 rs397516209 RCV000168835 RCV000157348 RCV003149623 |
143 | R>Q | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000505756 CA014751 RCV000623055 COSM71746 rs727503278 RCV002326865 RCV001798475 RCV000845365 RCV002251737 VAR_029431 RCV000197008 |
143 | R>W | ovary Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy large_intestine Hypertrophic cardiomyopathy Inborn genetic diseases Hypertrophic cardiomyopathy 1 CMH1 [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs730880834 RCV000223182 RCV001191615 RCV002326905 RCV000766398 RCV002515076 CA014800 |
144 | G>D | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001699503 COSM698142 rs1036184671 RCV001054827 CA257826579 |
144 | G>S | lung Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001227974 CA389052833 rs730880834 |
144 | G>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014924 RCV000035907 rs397516212 RCV001171222 VAR_042764 |
146 | K>N | Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1595090589 RCV000797424 CA389052814 |
147 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772691929 VAR_042765 CA042268 |
148 | S>I | CMH1 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV001232233 RCV000427715 rs374466146 CA16606540 RCV001861646 |
148 | S>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM4166809 RCV002528249 RCV001707721 CA042340 rs773740053 |
149 | E>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000368853 RCV000332809 rs879196018 RCV000289747 RCV000274414 RCV003320178 CA10645076 RCV000329404 |
150 | A>G | Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892997372 RCV001243196 |
150 | A>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA015084 RCV000168837 RCV000232512 rs730880837 RCV002336363 RCV001265605 RCV000158735 RCV001056271 RCV001170750 |
151 | P>L | Cardiomyopathy Hypertrophic cardiomyopathy Congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001727521 RCV000035922 RCV000820956 rs397516224 |
153 | H>missing | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389052775 RCV001776008 RCV000797195 rs1595090551 |
154 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000158736 CA015148 RCV002336364 RCV001857570 rs730880838 |
154 | I>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000157349 rs730880155 CA015284 |
159 | D>H | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389052744 RCV001213802 rs730880155 TCGA novel RCV000853138 |
159 | D>N | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
rs1057517771 CA16042917 VAR_020798 RCV001302097 RCV000413559 |
162 | Y>C | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000629022 CA389052724 rs1555338762 |
162 | Y>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001850159 rs727505011 RCV000156434 CA015429 RCV003162640 |
163 | Q>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892995265 RCV001055046 |
164 | Y>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389052697 RCV000628857 RCV001702530 rs1555338758 RCV001267177 |
165 | M>I | Hypertrophic cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053523 RCV000158877 CA015481 rs730880920 |
165 | M>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230743 rs730880920 |
165 | M>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326601 rs730880920 |
165 | M>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223786 rs730880839 RCV002498789 RCV001191621 CA015475 RCV001369678 RCV000766401 |
165 | M>V | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000540392 rs1555338757 CA389052692 |
166 | L>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015588 RCV000158738 RCV000766402 rs730880840 RCV000205556 |
168 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504267 RCV000154253 RCV000223700 CA015620 |
169 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015645 RCV000035948 rs397516237 |
169 | R>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000035949 CA015652 rs397516238 |
169 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892988709 RCV001322654 |
170 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706236 CA015706 rs730880842 RCV000158740 |
171 | N>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389052623 rs1555338749 RCV000628921 |
176 | I>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015916 RCV002345564 RCV002288776 rs752930302 RCV000471746 RCV000168838 RCV001178571 |
177 | T>I | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000157350 RCV000769466 rs730880156 COSM1128285 RCV001065383 RCV000464574 RCV000225729 CA015959 |
178 | G>R | Cardiomyopathy Hypertrophic cardiomyopathy prostate Left ventricular noncompaction cardiomyopathy [ClinVar, Cosmic] | Yes |
ClinVar dbSNP ClinGen cosmic curated gnomAD |
|
CA351836 RCV000208181 rs869025476 |
179 | E>A | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001203929 rs1445208076 |
179 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000619314 RCV001857002 CA389052591 RCV000497498 rs1555338704 |
180 | S>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000757956 CA046725 RCV003150341 rs760187215 RCV002343609 RCV001207953 |
181 | G>R | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000818270 rs730880843 RCV002345544 CA016180 RCV000158743 |
184 | K>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA016286 rs786205906 RCV000172884 VAR_042766 |
186 | V>L | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16042879 VAR_020799 rs1057517772 RCV000414445 |
187 | N>K | CMH1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA016308 RCV000035972 RCV001852733 rs397516249 |
187 | N>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880844 CA016314 VAR_019846 |
188 | T>N | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs1892958246 RCV001294339 |
188 | T>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_020800 rs1159921588 CA389052514 |
190 | R>T | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs876661135 RCV001191616 CA10577510 RCV000223475 |
191 | V>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000467740 CA16614503 rs1060501442 |
192 | I>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389052495 rs1472887126 RCV000695599 |
193 | Q>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389052476 rs1250974235 VAR_042767 |
196 | A>T | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA016506 RCV002470620 rs730880845 |
199 | A>T | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016513 RCV000158746 RCV000706637 rs727504283 RCV002354363 |
199 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016526 RCV001170747 VAR_042768 rs397516258 RCV000587084 RCV000035988 RCV001054799 RCV000158747 |
201 | I>T | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy CMD1S [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002484984 RCV000158748 rs397516259 CA016540 RCV002354391 RCV000628868 |
204 | R>C | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000543200 COSM552656 CA016546 RCV001170746 RCV001256696 RCV003320092 RCV003147324 VAR_019847 rs397516260 RCV002354191 RCV003147327 RCV000223767 RCV003147328 |
204 | R>H | lung Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 CMH1 [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
CA016552 RCV000628899 RCV000724202 RCV000416304 rs397516260 RCV000154508 |
204 | R>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002516387 CA016559 RCV000158751 rs730880846 |
206 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000806076 rs1595089639 |
207 | K>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000766406 RCV000154271 VAR_042769 RCV000231809 RCV002362808 rs727504273 RCV001183968 CA016563 RCV000780519 |
207 | K>Q | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000824640 CA389052396 rs878853840 RCV001185516 |
209 | Q>* | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003147420 RCV000234529 CA10583174 RCV003147422 RCV003147417 RCV003320141 RCV003147421 RCV002365176 rs878853840 RCV001723816 |
209 | Q>K | Variant assessed as Somatic; MODERATE impact. Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA016570 RCV001177617 RCV000845527 RCV000766407 VAR_042770 rs727503277 RCV001307728 RCV000989193 RCV002354346 RCV000151310 |
211 | P>L | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA389052377 RCV001036827 rs1244877100 |
212 | G>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555338682 CA389052371 RCV000559304 |
213 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001185768 rs1892953374 |
213 | K>N | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892948780 RCV002067719 RCV001039334 |
215 | T>I | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001228077 rs1892948213 |
216 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492868 RCV001865551 CA389052341 rs772488436 |
216 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001059657 rs1892947729 |
219 | Q>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001525479 RCV000355709 RCV001094229 RCV000359186 RCV000319627 CA10644000 RCV000392518 RCV003320177 rs779190577 |
220 | I>L | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001184111 rs779190577 CA048726 |
220 | I>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000228376 rs878853841 CA10583173 |
221 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1489868206 RCV001345762 |
222 | Q>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001570138 RCV000458543 rs1060501445 VAR_020801 RCV003168775 CA16614501 |
222 | Q>K | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001221707 CA016610 VAR_017746 RCV000015168 rs121913645 |
223 | A>T | Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy CMD1S [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA389052279 rs1595089491 RCV000850326 |
225 | P>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16042915 RCV000412779 rs1057517773 RCV002365450 RCV000457952 |
226 | A>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232140 RCV000221769 CA10576963 rs876657887 |
226 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389052273 COSM6140178 rs1230432463 VAR_042771 COSM1515093 |
227 | L>V | lung Variant assessed as Somatic; MODERATE impact. CMH1 [Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated NCI-TCGA Cosmic UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001036483 rs1892945595 |
229 | A>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876657888 RCV000214819 RCV002274965 RCV002363075 CA10576962 RCV000796059 |
229 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000254469 CA10587777 RCV001206578 RCV001700025 rs886038844 |
230 | F>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_019848 rs1302598456 CA389052239 |
232 | N>S | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000798023 rs730880848 CA389052235 |
233 | A>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504362 RCV000154496 RCV002362809 RCV000766410 RCV001857532 CA016639 |
233 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229578 rs1892944510 |
234 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002363076 CA10576961 RCV000218500 rs876657889 RCV001326354 |
235 | T>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000035992 RCV001727522 RCV000767174 rs397516262 CA016653 |
236 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350650 RCV001586142 rs397516261 |
236 | V>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703942 RCV001329736 RCV000766756 RCV000035991 CA016646 rs397516261 |
236 | V>I | Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA016667 rs397516263 RCV000471357 RCV000035994 RCV000617410 RCV000766650 |
237 | R>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000157351 RCV000252658 RCV000811971 RCV001265607 CA016662 RCV001823103 RCV000158879 RCV000223687 RCV000852457 rs45516091 |
237 | R>W | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000628940 RCV000035995 RCV000622036 rs397516264 RCV000162339 RCV001170745 CA016679 RCV000762926 |
239 | D>N | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_073875 | 239 | D>del | LVNC5 [UniProt] | Yes | UniProt |
|
RCV001212852 rs1892942972 |
241 | S>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016694 RCV001569534 RCV001256698 rs397516265 RCV001188097 RCV002381295 RCV000629015 RCV002496549 |
243 | R>C | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM5053874 CA016701 RCV000015186 VAR_073876 RCV000656213 RCV002381250 RCV000472129 RCV001618213 rs267606910 RCV000015187 RCV000514633 |
243 | R>H | Left ventricular noncompaction 5 Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Wolff-Parkinson-White pattern Hypertrophic cardiomyopathy 1 CMH1 and LVNC5 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000158757 rs730880849 VAR_020802 CA016711 |
244 | F>L | CMH1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA016731 RCV000035999 RCV001852734 rs397516267 COSM3495249 |
245 | G>E | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000802891 CA016736 RCV000158759 rs730880851 |
246 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000507832 RCV000158881 RCV000620575 rs730880922 RCV000225905 CA016752 |
247 | F>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692213 RCV002386201 CA389052142 rs1566537070 |
247 | F>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000599626 RCV002381471 CA016744 rs727503276 |
247 | F>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000154286 CA016766 rs727504280 |
248 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880852 RCV002481417 CA16614500 COSM5759228 RCV000472959 |
249 | R>* | Variant assessed as Somatic; HIGH impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs730880852 RCV000578064 RCV000578103 RCV001041039 RCV000578004 RCV003320125 RCV000577986 CA016774 |
249 | R>G | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000786166 RCV002388413 RCV000989192 rs3218713 CA389052134 |
249 | R>L | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000762925 COSM954783 RCV000617265 RCV000015144 RCV000853263 VAR_004569 rs3218713 RCV000158761 RCV000229956 CA016781 |
249 | R>Q | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000158762 CA016795 RCV002516388 rs397516268 |
250 | I>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727505202 RCV000201463 CA277662 |
252 | F>C | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080399 | 252 | F>L | LVNC5 [UniProt] | Yes | UniProt |
|
RCV000156695 RCV001219303 RCV003313940 CA016801 rs727505202 |
252 | F>S | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323208 rs730880853 |
253 | G>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730880853 RCV000158763 CA016808 RCV000620876 RCV001850223 |
253 | G>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853842 CA10583172 RCV000231604 |
254 | A>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053505 rs1892933875 |
255 | T>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002399324 COSM3495248 CA016810 rs121913633 VAR_004570 RCV000158764 RCV000693916 RCV000015155 |
256 | G>E | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV002516389 rs730880854 RCV000505791 CA016814 |
259 | A>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555338628 CA389052075 RCV000628872 |
260 | S>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892932955 RCV001187730 |
261 | A>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892932812 RCV001206452 |
262 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016828 VAR_042772 RCV001210689 RCV000208372 RCV000223688 rs730880855 |
263 | I>M | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA016824 RCV000769465 RCV002415464 RCV000201434 VAR_004571 RCV000158766 RCV000758021 rs397516269 RCV000036004 |
263 | I>T | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000791874 rs876661375 CA389052040 |
265 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223793 CA10581179 rs876661375 RCV000463441 |
265 | T>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880157 CA016835 RCV000157352 |
265 | T>S | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504409 CA016853 RCV000154595 |
267 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555338582 RCV000522276 CA389052011 RCV000689134 |
268 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555338582 CA389052010 RCV000845513 |
268 | L>R | Left ventricular noncompaction [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1399993803 RCV001298411 RCV001187488 RCV002224012 |
272 | R>missing | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044655 rs1555338578 RCV001353363 CA389051985 RCV000620658 |
272 | R>T | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892911147 RCV001224137 |
273 | V>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002424761 rs773456019 RCV000794504 CA049321 RCV000769464 |
274 | I>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs786204367 CA016861 RCV001998634 |
277 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389051926 rs730880856 RCV000628875 RCV003162782 |
281 | R>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002516390 RCV000219555 rs730880856 RCV002444659 CA016879 RCV000158768 |
281 | R>T | Left ventricular noncompaction Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000233194 rs397516271 CA016885 RCV000036007 |
282 | D>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016898 RCV000158769 RCV000151306 RCV001304622 rs727503274 |
283 | Y>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515482 RCV000056316 RCV002054899 CA016893 VAR_073877 |
283 | Y>D | Left ventricular noncompaction 5 Left ventricular noncompaction cardiomyopathy CMD1S [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002559886 RCV002272404 rs748692506 RCV001185046 CA049384 |
285 | I>V | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892909255 RCV001338622 |
286 | F>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782961 RCV000143920 CA016907 |
287 | Y>C | Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516272 RCV000201478 RCV000036008 RCV001349519 RCV002371826 CA016918 |
291 | S>F | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595088787 RCV000801899 CA389051846 |
293 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000467280 RCV002374766 CA16614498 rs1060501453 |
295 | P>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001306909 rs1060501444 |
299 | D>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501444 CA16614097 RCV000477189 |
299 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892892787 RCV001303349 RCV002486171 |
300 | M>T | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317564 rs1892892401 |
303 | I>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001170744 rs1892892489 |
303 | I>S | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000158771 RCV001308482 RCV001186244 CA016948 rs730880858 RCV002372036 |
304 | T>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001318945 rs1892891910 |
307 | P>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000158882 CA016961 RCV000584771 RCV000536809 RCV001270160 rs730880923 RCV001187174 |
309 | D>N | Cardiomyopathy Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_042773 CA389051719 rs1244223899 |
312 | F>C | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002487877 RCV002536167 RCV001776064 CA049759 rs771522982 RCV000845426 |
312 | F>L | Hypertrophic cardiomyopathy Primary familial dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001089618 rs1323103660 |
313 | I>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1323103660 RCV001325036 CA389051714 |
313 | I>V | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001178517 rs1892890666 |
315 | Q>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566536436 CA389051682 RCV000768482 |
318 | T>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000768483 CA389051669 rs1566536418 |
320 | V>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000549661 RCV002381459 RCV000148711 RCV000223879 CA017003 VAR_020803 rs376897125 RCV000201440 |
320 | V>M | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000158773 CA017009 rs730880859 RCV000628973 |
322 | S>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001185246 RCV000817033 RCV000766415 rs730880861 CA017050 RCV000158776 RCV002484985 |
323 | I>M | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397516275 RCV000692568 CA049840 |
323 | I>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001170743 RCV000588549 CA017042 RCV000251862 rs397516275 RCV000036013 RCV000528203 |
323 | I>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730880860 RCV000158774 CA017017 RCV001185245 RCV002516391 |
323 | I>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699698 rs1566536390 CA389051640 |
325 | D>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699829 rs1566536395 CA389051643 |
325 | D>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000036015 RCV000778404 RCV000227951 RCV000148710 RCV001109128 RCV003162310 RCV003320095 RCV000763914 RCV001187131 CA017063 RCV000766416 rs372731424 |
326 | A>P | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA389051621 VAR_042774 rs1459392243 |
328 | E>G | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA389051615 rs1566536367 RCV002485650 RCV000691981 |
329 | L>F | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566536367 RCV001184430 |
329 | L>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046055 rs1440440623 |
333 | D>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000443440 RCV000463059 CA16606824 rs727503272 |
335 | A>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727503272 CA010052 RCV001798474 RCV000599623 |
335 | A>S | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA010070 RCV000201479 RCV000035694 rs397516087 RCV000195997 |
338 | V>A | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389051545 rs397516087 RCV000584807 |
338 | V>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002345472 RCV000792549 RCV000158778 CA010061 rs727503271 |
338 | V>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389051535 rs765585335 RCV000628962 |
340 | G>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892857708 RCV001349675 |
342 | T>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001776206 rs730880862 RCV001343522 |
344 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730880862 RCV000678719 CA010078 RCV000158779 |
344 | E>Q | Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000015150 RCV002490370 VAR_004572 RCV000621114 CA010092 RCV001188427 RCV000694881 rs121913640 RCV000127019 |
349 | M>T | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV003298181 CA010082 RCV001190441 RCV000824263 rs730880730 RCV001704141 |
349 | M>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001854741 RCV000217277 CA10577509 rs876661150 |
350 | Y>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_073878 | 350 | Y>N | CMD1S [UniProt] | Yes | UniProt |
|
RCV000251987 VAR_042775 RCV000158781 rs730880864 RCV000703741 CA010108 |
351 | K>E | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555338462 RCV001211386 |
351 | K>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000522187 RCV002525108 CA389051463 rs1555338462 |
351 | K>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892855882 RCV001296351 |
353 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010116 rs727503270 RCV000619793 RCV002505153 RCV000800797 RCV000151299 RCV002223791 |
354 | G>S | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000794945 CA389051441 rs397516088 COSM370754 |
355 | A>S | lung Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV003313930 RCV000624861 RCV000225736 COSM1369237 rs397516088 RCV000620233 RCV000470458 RCV000769462 CA010133 VAR_019849 |
355 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy large_intestine Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA010149 rs606231316 RCV000148982 |
358 | H>L | Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs606231317 RCV000148981 CA010165 |
362 | M>L | Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389051390 RCV001191062 rs1210839181 RCV001211926 |
362 | M>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA010183 RCV000148980 rs606231318 |
367 | K>N | Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055783 RCV000157353 CA010203 RCV000151297 rs397516089 |
369 | R>P | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000035698 RCV001798093 RCV000587847 RCV003320043 RCV000544985 RCV000491937 RCV000487437 RCV000223685 rs397516089 CA010192 |
369 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Primary dilated cardiomyopathy Myosin storage myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035534 CA389051344 COSM432910 rs1318155896 |
369 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas Hypertrophic cardiomyopathy breast [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1892853470 RCV001064239 |
370 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892853203 RCV001070195 |
371 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730880924 RCV001804878 RCV000158883 CA010212 RCV002433706 RCV001046558 |
373 | A>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000704186 rs1489128381 CA389051310 |
374 | E>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686765 rs1566535805 CA389051311 |
374 | E>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2231126 RCV000629044 RCV000498100 CA389051294 RCV001180566 CA010232 RCV001721008 |
376 | D>E | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1085307959 RCV001202751 CA389051291 RCV000490207 |
377 | G>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000767030 CA027608 RCV002323670 rs773599095 RCV000455295 RCV000628911 |
377 | G>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001798094 RCV000035700 RCV001753442 rs397516090 CA010250 |
378 | T>P | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA010258 RCV001302096 RCV000158785 rs730880866 |
379 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504753 RCV000156061 RCV001727606 RCV000850503 CA010273 |
381 | A>T | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697662 rs1566535491 CA389051250 |
382 | D>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583171 rs878853836 RCV000226286 |
382 | D>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_042776 CA389051240 rs1378946537 |
383 | K>N | CMH1 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV001618223 rs397516092 RCV000480078 RCV000035702 CA010281 |
383 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892827655 RCV001069119 |
384 | S>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010290 rs606231319 RCV000148979 |
384 | S>Y | Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_042777 CA389051229 rs1275734785 |
385 | A>V | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000522095 RCV000151296 rs727503269 RCV001797637 CA010299 |
386 | Y>C | Cardiomyopathy Restrictive cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555338378 CA389051219 RCV000628910 |
387 | L>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036179 rs1555338378 |
387 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389051209 RCV000788771 RCV003313979 RCV001313135 rs1595087168 |
388 | M>I | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595087175 RCV000792661 CA389051212 |
388 | M>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000766420 RCV000619171 RCV001850060 rs727503268 CA010316 RCV000151295 |
389 | G>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_073879 | 390 | L>P | CMD1S [UniProt] | Yes | UniProt |
| VAR_020804 | 390 | L>V | CMH1 [UniProt] | Yes | UniProt |
|
rs1566535452 RCV000690721 CA389051192 |
391 | N>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389051184 RCV000628995 rs1555338377 |
392 | S>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA010321 RCV000158884 RCV000809635 rs730880925 |
393 | A>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA351705 rs869025477 RCV000208016 RCV001853311 |
393 | A>V | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614497 RCV000472981 RCV000788584 RCV002051852 rs1060501452 |
394 | D>E | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516093 COSM954780 RCV000769461 RCV000035704 RCV000700699 RCV002292459 CA010330 |
394 | D>N | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000463839 CA16614095 rs1060501447 |
396 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501447 RCV001509448 RCV001231290 |
396 | L>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566535410 CA389051160 RCV000709616 |
397 | K>E | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880158 CA010341 RCV000157354 RCV000537983 |
398 | G>E | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001170741 rs1892824991 |
401 | H>Q | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389051125 rs1555338370 RCV000628968 |
402 | P>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389051122 RCV000614191 rs3218714 |
403 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001381369 RCV002345243 RCV000158679 rs121913624 RCV000015157 VAR_004573 CA010374 |
403 | R>L | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA389051121 rs121913624 RCV000807905 RCV002345822 |
403 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000035708 RCV001798006 RCV000015143 RCV002504790 VAR_004574 rs121913624 RCV002345242 RCV000199447 RCV000158788 CA010365 |
403 | R>Q | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_004575 RCV000456661 RCV000015158 CA010360 RCV000515361 RCV000158787 COSM954779 rs3218714 RCV000621657 RCV001170740 |
403 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium urinary_tract Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs730880867 VAR_042778 CA389051120 |
404 | V>L | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA010379 RCV001054191 RCV002285271 VAR_042779 rs730880867 |
404 | V>M | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001880030 rs1892824277 RCV001262007 |
406 | V>missing | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1422611896 VAR_020805 CA389051106 |
406 | V>M | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002362622 RCV000465369 CA010392 VAR_042780 rs397516095 |
407 | G>V | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002521455 CA16043482 rs1057518877 RCV000415451 |
408 | N>K | Cardiac arrhythmia Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA027837 rs150885220 CA389051075 RCV000628870 |
410 | Y>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_029432 CA010410 rs730880868 RCV000158790 RCV000697577 RCV001170739 RCV000619862 COSM4050076 |
411 | V>I | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001345424 rs730880869 RCV000493381 CA389051068 |
412 | T>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389051067 rs1428725625 VAR_042781 |
412 | T>N | CMD1S [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs1566535300 CA389051019 RCV000754865 |
419 | Q>K | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747189113 CA028116 RCV000703744 |
421 | I>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892816286 RCV001048402 |
422 | Y>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs606231321 CA010450 RCV000148977 |
423 | A>T | Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000766421 VAR_042782 CA010465 RCV000158792 RCV000035712 rs397516097 |
425 | G>R | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1892815450 RCV001059926 |
426 | A>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696675 CA389050961 rs1267329552 |
427 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001093024 rs727503266 RCV000853170 CA389050954 |
428 | A>D | Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000151291 VAR_019850 CA010474 rs727503266 RCV003162614 |
428 | A>V | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA389050941 VAR_029433 rs1566535170 |
430 | A>E | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs606231322 RCV002381431 RCV000148976 CA010484 RCV001854574 |
431 | V>M | Hypertrophic cardiomyopathy Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786205356 RCV000172763 COSM1258465 RCV001302692 CA010503 RCV000618223 |
434 | R>K | Variant assessed as Somatic; MODERATE impact. oesophagus Hypertrophic cardiomyopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA337500 RCV002381688 RCV000197853 rs863224644 |
435 | M>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001337847 rs1484300349 |
435 | M>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001058369 rs1240750957 CA389050909 |
435 | M>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
CA389050907 rs1484300349 VAR_042783 |
435 | M>T | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA389050888 RCV000821674 RCV000995158 rs1595086845 TCGA novel |
437 | N>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
CA010524 RCV000800709 RCV000788951 rs370310929 RCV000154611 |
439 | M>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002466453 rs370310929 CA010515 RCV001704142 |
439 | M>V | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA389050869 RCV002384363 RCV001699779 RCV001302807 rs1244840759 |
440 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000035713 VAR_042784 RCV000697579 rs397516098 CA010537 |
440 | V>M | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000777877 RCV000989191 RCV000767122 CA010543 VAR_042785 rs121913653 RCV001087154 RCV002496367 RCV000192200 RCV000035714 |
441 | T>M | Cardiomyopathy Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 MPD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000786167 RCV000770500 RCV000464365 RCV000622007 rs148808089 RCV002051819 CA010561 |
442 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001222139 RCV000158796 RCV002381516 CA010569 RCV001180070 RCV002288668 rs730880870 |
442 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs730880870 CA389050860 RCV000768484 |
442 | R>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389050854 rs1234112565 VAR_019851 |
443 | I>T | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000208202 RCV002381517 CA010585 RCV000468249 rs730880159 RCV000158797 |
444 | N>S | Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs730880159 RCV000157355 CA010577 |
444 | N>T | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000252921 RCV001188118 RCV001113282 RCV001113281 RCV002487165 RCV002255352 RCV003320146 CA028217 RCV000628876 RCV001113283 rs752349938 |
445 | A>V | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389050836 rs1595086797 RCV000793056 |
446 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892812435 RCV001317563 |
449 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_042786 rs1403027088 CA389050815 |
450 | K>E | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001218080 RCV001704653 rs1555338319 CA389050810 |
450 | K>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_042787 rs1352198296 CA389050813 |
450 | K>T | CMH1 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV000768518 RCV000158798 rs730880871 CA010603 |
451 | Q>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM2031862 RCV000015145 VAR_004576 RCV000158799 RCV000035717 rs121913625 RCV000618958 RCV001170514 RCV001375645 RCV000230258 CA010630 |
453 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000195545 CA010639 VAR_042788 rs397516101 RCV000158800 RCV000201462 COSM4050075 RCV002381294 RCV000845295 |
453 | R>H | Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV002378957 CA10581177 rs397516101 RCV000223878 RCV000818531 |
453 | R>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_073880 rs121913625 CA010621 RCV001618214 RCV000154254 RCV000015190 |
453 | R>S | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001170513 RCV000679804 CA389050766 RCV001775948 rs397516103 |
457 | I>R | Cardiomyopathy Hyaline body myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001804758 RCV000035720 RCV000617592 RCV002496539 CA010654 rs397516103 RCV000477379 RCV001258094 |
457 | I>T | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000797940 CA389050759 rs1595086725 RCV002386408 |
458 | G>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892810348 RCV001235235 |
459 | V>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183468 RCV001729360 rs397516105 RCV001326202 RCV000035722 CA010671 |
462 | I>F | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1892809660 RCV001241603 |
464 | G>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000244026 CA10587781 rs45508293 RCV003150146 |
465 | F>L | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs4981473 CA351720 RCV001323678 RCV002390559 RCV001555393 RCV000208036 |
466 | E>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs4981473 VAR_029434 RCV001002093 RCV001069636 RCV000493052 CA257823295 |
466 | E>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA389050705 rs730880872 RCV000768485 |
467 | I>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516106 RCV000154581 RCV000766422 RCV001798499 RCV001054042 RCV002390345 CA010701 |
469 | D>N | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM954777 RCV000035724 rs397516106 CA010710 RCV000804896 RCV003313931 RCV000852456 |
469 | D>Y | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002283509 CA389050638 RCV000690942 rs1566534775 |
475 | Q>K | Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595086356 CA389050634 RCV000793863 |
475 | Q>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000158805 rs730880873 RCV000766424 RCV002484986 CA010750 RCV002390381 RCV001060119 |
478 | I>V | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504236 RCV000204606 VAR_019852 CA010759 RCV003137667 RCV002390343 |
479 | N>S | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001804733 CA010768 RCV000539828 VAR_019853 rs121913651 RCV002247341 RCV002390109 RCV000015176 |
483 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA389050561 rs1186558363 RCV001059230 |
486 | Q>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1892794319 RCV001182139 |
488 | F>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850113 RCV000599624 RCV000154450 rs727504336 |
493 | M>missing | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001349518 RCV002390383 RCV000158808 CA010820 CA277680 RCV000201501 rs730880876 |
493 | M>I | Hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA010812 rs786205905 RCV000172883 |
493 | M>K | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000158807 RCV003317105 rs730880875 RCV000213209 RCV000622058 CA010805 |
493 | M>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389050504 RCV000795786 rs1595086294 |
494 | F>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389050501 RCV001249392 rs1555338257 RCV000554576 |
494 | F>Y | MYH7-Related Disorders Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267606911 RCV000204929 RCV000250089 RCV002054442 VAR_073881 RCV001170512 CA010843 RCV000015184 RCV000223873 |
497 | E>D | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000154260 CA010852 rs727504270 RCV000538491 |
499 | E>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs3218715 CA257822957 VAR_020806 |
499 | E>K | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001235054 rs727504270 |
499 | E>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010860 VAR_042789 RCV000154295 RCV001850111 rs727504286 |
500 | E>A | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA389050464 rs1555338255 RCV000554949 |
500 | E>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555338254 RCV003320201 RCV000629010 |
500 | E>missing | Hypertrophic cardiomyopathy Myosin storage myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_042790 CA389050453 rs1288878100 |
501 | Y>C | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000628909 rs876657877 RCV001753645 RCV000218204 CA10576960 |
502 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA010875 RCV000770499 rs397516109 RCV000035728 |
505 | G>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000462263 CA028587 COSM954775 RCV001181134 rs558212108 |
507 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000701623 rs1566534664 CA389050393 |
510 | F>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA010890 RCV000148975 rs606231323 |
510 | F>L | Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389050385 VAR_042791 rs1333791654 |
511 | I>F | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
VAR_042792 RCV000795739 rs397516110 RCV001699021 CA010896 RCV000035729 RCV000201470 |
511 | I>T | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001046128 rs1892790810 |
512 | D>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000774253 CA389050381 rs1566534648 |
512 | D>N | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000015159 VAR_004577 rs121913636 CA010905 |
513 | F>C | Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001305578 rs397516111 |
514 | G>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614164 rs863224900 VAR_042793 RCV000461645 |
515 | M>R | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs863224900 RCV003320136 CA278943 |
515 | M>T | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_039562 | 515 | M>V | CMH1; infrequent [UniProt] | Yes | UniProt |
|
CA389050352 RCV000845542 rs1595086171 |
516 | D>G | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_029435 CA010927 RCV000845442 RCV000154203 rs727504237 |
517 | L>M | Hypertrophic cardiomyopathy Primary familial dilated cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000459180 rs1060501450 CA16614495 |
518 | Q>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555338241 RCV000533251 CA389050332 |
519 | A>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892789510 RCV001249764 |
520 | C>F | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinVar dbSNP |
|
rs727504328 RCV000154423 RCV000690654 CA010947 |
521 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000850354 rs1595086146 CA389050311 |
522 | D>V | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769484001 RCV001328489 |
524 | I>M | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010973 RCV000158889 RCV001321694 rs730880929 |
524 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466357 RCV000786168 RCV000157356 CA010981 RCV001281475 rs606231324 RCV000148974 RCV000578453 |
525 | E>K | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Primary dilated cardiomyopathy Familial cardiomyopathy Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA389050265 rs1595085606 RCV000806877 |
527 | P>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389050270 RCV001170511 rs1437377039 |
527 | P>S | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs727503265 RCV001204601 CA011008 RCV000151288 |
528 | M>I | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771831848 RCV001207848 RCV000781633 RCV001576878 CA028909 RCV001186053 RCV000620076 |
530 | I>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001183341 rs1892758684 |
531 | M>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001570405 RCV002468970 VAR_017747 rs121913642 RCV000688025 RCV002399325 RCV000211832 CA011011 RCV000015164 |
532 | S>P | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Primary dilated cardiomyopathy CMD1S [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000035732 rs397516113 CA011020 RCV000685018 |
533 | I>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001342156 rs2069543 |
535 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA011054 rs397516115 RCV000154263 |
536 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001262778 rs1892756939 |
538 | C>* | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinVar dbSNP |
|
CA349239 RCV000205072 rs730880930 |
539 | M>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880930 RCV000158890 RCV000792651 CA011068 |
539 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402248 CA16614425 RCV001267673 RCV000475248 rs1060501443 |
540 | F>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338734 rs863224645 RCV002399746 RCV000199597 RCV000755581 |
542 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs730880160 RCV000157357 CA011085 |
543 | A>T | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003298053 rs397516119 CA011091 RCV001524577 RCV000763913 RCV000035739 RCV003114212 RCV003322748 |
544 | T>A | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001180069 rs564101364 RCV000553630 CA10587778 RCV000243487 RCV001529540 |
545 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002519641 CA10576959 RCV000221870 rs876657878 RCV001753646 |
547 | T>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000196720 rs863224646 CA336651 |
548 | F>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186080 RCV002393424 rs1188606962 |
550 | A>D | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389050117 rs1188606962 VAR_042794 |
550 | A>V | CMD1S [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA389050114 rs1566534156 RCV000770498 |
551 | K>Q | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892755053 RCV001188530 |
552 | L>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812315 CA029049 rs750828477 |
554 | D>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10577507 RCV001731452 RCV000214278 rs876661215 |
555 | N>S | MYH7-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892754005 RCV001067203 |
560 | S>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM4050072 RCV001190250 RCV000244373 CA011129 RCV001064082 rs730880878 RCV000158812 |
561 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001183467 rs397516118 CA011139 RCV000035738 |
562 | N>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516118 RCV001191670 |
562 | N>H | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000788560 CA029129 rs771771163 RCV001824843 RCV000618786 RCV001061451 RCV001182935 |
567 | R>C | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA011148 COSM4751275 RCV000035741 RCV000799659 RCV003223608 rs377491278 RCV003298054 |
567 | R>H | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001189856 RCV001237692 rs1892752744 |
568 | N>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_042795 CA389049980 rs730880879 CA011155 RCV002399575 RCV001038119 RCV000158813 RCV000812316 |
571 | G>R | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs1892752183 RCV001187814 |
574 | E>Q | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA011163 RCV002408684 RCV002505167 RCV001170510 RCV000154204 VAR_042796 rs727504238 RCV000226806 RCV000172889 |
576 | H>R | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs121913626 CA389049895 RCV000622746 |
584 | G>C | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs121913626 RCV000223743 RCV000471604 RCV001170509 VAR_004578 RCV002408465 RCV000015146 CA011186 RCV000035744 |
584 | G>R | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000035743 RCV000709746 RCV000242011 rs121913626 RCV003149621 CA011178 RCV000229519 RCV000788633 VAR_029436 |
584 | G>S | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA389049892 rs1595085409 RCV000816205 |
584 | G>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001342952 rs886038845 |
585 | I>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397516121 CA011211 RCV000035747 |
586 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705771 CA389049882 rs727504294 |
587 | D>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504294 RCV002516103 RCV000154310 CA011221 |
587 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389049878 VAR_004579 rs1285747856 |
587 | D>V | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs775089432 CA029383 RCV000788942 RCV000628945 RCV001189995 RCV002499025 |
591 | I>T | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_020807 CA389049824 rs1381638438 |
595 | Q>R | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
COSM4853282 RCV001170508 RCV000702802 rs606231325 CA389049814 CA029392 |
596 | K>N | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001310037 RCV000035748 rs397516122 RCV000788457 CA011255 |
597 | N>K | Primary dilated cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321610 rs1892748604 |
597 | N>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16042878 RCV001836812 RCV000413671 rs1057518305 |
598 | K>E | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880936 RCV000624601 |
599 | D>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000035749 CA011279 rs397516123 |
600 | P>S | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691685 RCV000696909 CA389049785 |
601 | L>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691685 VAR_020808 RCV000494512 CA389049786 |
601 | L>V | CMH1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000149449 rs672601321 |
602 | N>missing | Familial cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000628886 VAR_004580 RCV000619801 RCV000158817 CA011293 rs730880880 |
602 | N>S | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA257822131 RCV001069798 rs1038661561 RCV002411610 |
603 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000628983 CA389049756 CA389049757 rs121913627 |
606 | V>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM954772 VAR_004581 RCV001525146 RCV000015147 RCV003147290 RCV001824570 RCV000252267 CA011311 RCV000473084 RCV003320032 rs121913627 RCV000223823 RCV003147293 RCV000015167 RCV003147294 RCV000035750 |
606 | V>M | MYH7-Related Disorders Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy endometrium Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 CMH1; in cis with V-728 gives a more severe phenotype [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000208224 rs869025479 CA351861 COSM283032 |
607 | G>D | Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002408697 rs727504925 RCV000557354 CA011319 |
609 | Y>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001544582 CA389049720 RCV001224383 RCV003152753 rs1393494996 |
611 | K>N | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577508 RCV000217454 RCV001854746 rs876661200 |
611 | K>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001223984 CA257822114 rs1005703927 |
612 | S>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614423 RCV000457580 rs1060501449 |
615 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389049696 VAR_004582 rs1164270609 |
615 | K>N | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
| VAR_042797 | 615 | K>Q | CMH1 [UniProt] | Yes | UniProt |
|
RCV002555505 RCV001179453 rs1892745662 |
615 | K>R | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs541143322 RCV001230042 RCV000143921 RCV001525514 CA011355 |
619 | T>I | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1566533919 RCV000984900 |
620 | L>missing | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001189697 CA257822081 rs150153771 |
622 | A>S | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV001170507 RCV000811260 RCV000154305 CA011365 rs727504291 |
624 | Y>C | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555338113 RCV000628996 CA389049645 |
624 | Y>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002409478 rs1555338113 RCV001060094 |
624 | Y>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000628907 rs1555338111 CA389049633 |
626 | G>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000244710 RCV000223917 rs876661370 CA10581176 RCV000535668 |
626 | G>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180713 rs1174863002 |
627 | A>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513358 RCV000035753 rs397516124 CA011413 |
630 | P>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001322988 rs397516124 RCV003320245 |
630 | P>T | Hypertrophic cardiomyopathy Myosin storage myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001876041 CA389049570 rs1430156584 RCV001181829 RCV002411686 |
635 | K>* | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1892730403 RCV001170506 COSM954771 |
637 | K>N | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV002483343 CA011449 RCV001365021 COSM1607527 RCV001184480 RCV000154775 rs369935820 |
638 | A>V | liver Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP |
|
rs1555338080 CA389049527 RCV001854146 RCV000599995 |
641 | G>A | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349678 rs1892730026 |
641 | G>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003319167 VAR_017748 rs121913646 RCV000015169 RCV002408466 RCV000819604 CA011471 COSM1707200 |
642 | S>L | skin Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 CMD1S [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
rs1566533659 RCV000686421 CA389049487 |
647 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892729277 RCV001265600 |
649 | A>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000466648 CA16614419 rs1060501451 |
650 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs606231328 RCV001208976 |
651 | H>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs606231328 CA011489 RCV001180291 RCV000148970 |
651 | H>R | Cardiomyopathy Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001364519 RCV001185929 rs1892728751 |
651 | H>Y | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000628842 rs727504239 RCV002415653 CA011498 RCV000223832 |
652 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001057712 rs1892728325 |
652 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389049429 rs1595084583 RCV000824807 |
655 | L>M | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064793204 RCV000770496 CA16619853 RCV000483069 |
657 | K>M | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000811264 CA011527 rs727503264 |
657 | K>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555338034 CA389049408 RCV000559996 |
658 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_019854 CA389049400 rs1241603111 |
659 | M>I | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002535791 RCV000788769 rs1595084560 CA389049395 |
660 | T>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692094 rs1566533312 CA389049396 |
660 | T>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000618159 CA16614494 RCV000465668 rs1060501435 |
661 | N>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001170504 RCV000459608 COSM5612930 rs397516127 CA011543 VAR_042798 RCV000620403 RCV000157358 RCV000158821 RCV000515169 |
663 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000168409 CA011552 RCV000762924 rs371898076 RCV000162333 RCV000477919 RCV000035758 RCV000678721 VAR_019855 COSM162726 RCV000158822 RCV001170503 RCV000253409 |
663 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy urinary_tract Hypertrophic cardiomyopathy breast Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_019856 RCV001196247 rs397516127 RCV002418658 RCV003106156 RCV001349517 |
663 | R>S | Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001069873 RCV003160576 rs1892712828 |
665 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892712315 RCV001228728 |
668 | H>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892712215 RCV001178405 |
669 | F>C | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000766426 RCV000620591 RCV000461116 RCV001197245 rs727503263 VAR_019857 RCV000770495 RCV001258093 COSM1369234 CA011560 |
671 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Congenital myopathy with fiber type disproportion large_intestine Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA011568 RCV001808430 RCV000702206 rs730880883 RCV000158824 |
671 | R>H | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000148966 rs606231331 |
676 | N>missing | Familial cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892711103 RCV001209868 |
678 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001181092 rs1175481910 RCV001876016 RCV002418616 CA389049261 |
680 | S>F | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000773991 rs1566533236 CA389049258 |
681 | P>S | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000768519 rs1566532876 CA389049236 |
683 | V>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000845324 RCV000151281 rs727503262 RCV001798473 RCV000685085 RCV000724274 CA011620 |
684 | M>I | Cardiomyopathy Hypertrophic cardiomyopathy Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs606231332 CA011611 RCV000148965 |
684 | M>R | Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000158504 CA011603 rs606231332 RCV000457181 |
684 | M>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466336 CA16614414 rs1060501441 |
684 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000701511 rs1566532860 RCV003133555 RCV002485727 RCV001177155 |
685 | D>missing | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001176101 COSM698145 CA031104 rs747382784 |
687 | P>H | lung Cardiomyopathy Variant assessed as Somatic; MODERATE impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000527215 rs888930078 |
688 | L>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397516128 RCV000628835 RCV000770494 CA011635 |
690 | M>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA011642 RCV000663405 RCV000628970 RCV000786922 RCV001723720 rs727504240 VAR_020809 RCV000618360 |
694 | R>C | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 CMH1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM213256 CA10587775 VAR_029437 RCV000249009 rs886039030 RCV000628874 RCV001191924 RCV000422742 RCV002503962 |
694 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy breast Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000803464 rs730880732 VAR_020810 RCV000158507 CA011651 |
696 | N>S | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy CMH1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000035761 VAR_042799 rs397516130 CA011673 RCV000162340 |
698 | V>A | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000413269 CA16042911 RCV001358878 rs1057518560 |
698 | V>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892684240 RCV001796983 RCV001317562 |
700 | E>G | MYH7-Related Disorders Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA011689 rs397516131 RCV001852727 RCV000035762 |
701 | G>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000158508 rs397516132 RCV000628958 CA011696 RCV001193366 |
702 | I>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225101 RCV001853227 RCV000201487 CA279302 RCV002415859 |
702 | I>V | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049101 rs1892683367 |
704 | I>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555337916 CA389049102 RCV000660462 |
705 | C>Y | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516134 RCV000035765 RCV000158509 CA011730 |
708 | G>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA011747 RCV002415654 rs727504272 RCV000154344 RCV000469589 |
710 | P>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749007293 RCV000460524 RCV001584148 CA031270 |
712 | R>C | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs749007293 RCV000693858 CA389049060 |
712 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003133547 COSM1515095 RCV000697832 CA389049058 rs1224554825 |
712 | R>H | lung Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
VAR_020811 rs1224554825 CA389049056 |
712 | R>L | CMH1 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
rs749007293 RCV001043872 |
712 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002429667 RCV002505609 CA389049054 RCV001055617 rs1339799654 |
713 | I>V | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1892682030 RCV001186584 |
714 | L>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000610760 RCV000547727 CA389049032 rs1555337912 |
716 | G>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913638 VAR_004583 RCV000015161 RCV001170502 CA011770 RCV000158511 RCV000233499 RCV001050852 |
716 | G>R | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP UniProt |
|
RCV001312747 rs1385478575 |
717 | D>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000429496 CA16606822 rs1057524857 RCV000460699 RCV002429463 |
717 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501432 CA16614412 RCV000473139 RCV000486340 |
718 | F>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209616 rs121913641 RCV000201464 RCV000223766 CA277665 |
719 | R>P | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_017749 RCV000158513 RCV000015163 rs121913641 RCV000468000 CA011785 RCV000250394 |
719 | R>Q | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001594372 VAR_004584 RCV000158512 RCV001170501 rs121913637 RCV000758071 COSM403676 RCV000241836 RCV001194067 RCV000015160 CA011779 RCV002496366 |
719 | R>W | lung Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs730880733 CA011791 COSM3814556 RCV000158514 RCV001297267 |
720 | Q>H | Hypertrophic cardiomyopathy breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002516384 rs730880734 CA011834 RCV000158515 |
721 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000035772 RCV000462477 RCV000158516 rs121913630 RCV002496365 VAR_004585 CA011851 RCV000253053 RCV001186219 RCV000015151 |
723 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000158837 VAR_020812 rs121913630 RCV000201494 RCV000035771 RCV000227196 CA011843 |
723 | R>G | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1; malignant phenotype [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002415463 RCV001110428 RCV000148962 CA011859 RCV001092198 RCV000628894 RCV001110427 rs397516135 RCV000035773 RCV003320052 |
723 | R>H | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Familial cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000035774 RCV003152673 rs397516136 CA011864 |
724 | I>N | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000148961 CA011873 rs606231335 |
725 | L>P | Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA011879 RCV002513360 rs397516137 RCV000035775 |
726 | N>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000148699 RCV000757528 RCV002426505 rs121913644 RCV000035776 RCV000542451 CA011896 RCV001183232 VAR_017750 COSM404544 RCV000015167 |
728 | A>V | lung Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1; in cis with M-606 gives a more severe phenotype [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1060501448 RCV001564801 CA16614089 RCV000466153 |
730 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389048939 rs1247313340 VAR_004586 RCV001297502 |
731 | P>L | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1247313340 RCV001198111 |
731 | P>R | Congenital myopathy with fiber type disproportion [ClinVar] | Yes |
ClinVar dbSNP |
|
CA011922 rs727504299 RCV001226065 RCV000158517 RCV000201447 COSM230283 |
731 | P>S | NS Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA16603250 RCV001346159 rs727504299 RCV000426523 |
731 | P>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001182885 rs1465544124 |
732 | E>D | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000154207 VAR_019858 rs727504241 CA011928 |
733 | G>E | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy CMH1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1173617248 CA389048925 VAR_029438 RCV000805227 |
734 | Q>E | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000201480 VAR_042800 CA279297 rs863225097 |
734 | Q>P | Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000816177 rs1595083518 |
735 | F>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614410 RCV000467632 rs1060501438 |
735 | F>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_004587 | 736 | I>M | CMH1 [UniProt] | Yes | UniProt |
|
RCV003149921 RCV000158520 RCV001594383 CA011970 RCV000621605 RCV000471476 VAR_029439 RCV000151279 rs727503261 |
736 | I>T | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397516138 CA011954 RCV000225741 RCV001362839 RCV001184542 RCV000035777 RCV000185533 |
736 | I>V | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001851136 rs1064793205 CA16619852 RCV000480907 |
737 | D>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064796729 RCV002526965 CA16619851 RCV000485371 |
738 | S>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389048899 RCV000770492 rs730880894 |
738 | S>N | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892670575 RCV001315491 RCV001561874 |
738 | S>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001618316 CA011976 RCV000158838 rs730880894 RCV000497292 |
738 | S>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595083480 RCV000797065 CA389048895 |
739 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221966 CA011985 RCV000154648 rs727504429 |
739 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
CA16606949 RCV001381453 rs1057520814 RCV000429053 |
741 | G>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_004588 RCV000621362 rs121913632 RCV002490371 RCV000158521 RCV001170500 RCV000472342 RCV000243586 RCV000461730 RCV000158522 CA012013 RCV000015154 CA012004 RCV001170499 |
741 | G>R | Hypertrophic cardiomyopathy 1 Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD UniProt |
|
RCV002466449 RCV000158523 VAR_004589 rs121913632 CA012022 RCV000619837 RCV000678722 |
741 | G>W | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs786205907 RCV000172885 CA012029 VAR_042801 |
742 | A>E | Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs769396106 RCV001324511 |
742 | A>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001525268 RCV002477374 CA031805 rs769396106 RCV000628941 RCV003129949 |
742 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_014199 RCV000158524 RCV000015166 RCV001061140 rs397516139 CA012046 |
743 | E>D | Hypertrophic cardiomyopathy Cardiomyopathy, hypertrophic, midventricular, digenic CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001177015 rs1892669315 |
743 | E>G | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1230771917 CA389048866 RCV000547946 |
744 | K>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10576958 RCV000770491 RCV000213597 rs876657879 |
748 | S>P | Cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012055 RCV000154410 RCV001170280 rs727504320 |
749 | L>Q | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1208712277 RCV001182575 CA389048831 |
750 | D>H | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1892668023 RCV001183189 |
751 | I>F | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297047 rs1892667923 |
751 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892668023 RCV001035208 RCV001187821 |
751 | I>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555337846 CA389048744 RCV001855366 RCV000658145 |
761 | T>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_042802 RCV000158525 CA012082 rs730880735 RCV001337262 |
763 | V>G | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001195109 CA012070 rs727504253 VAR_045926 RCV002444635 RCV000154226 RCV001183967 |
763 | V>M | Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000015165 rs121913643 CA012091 VAR_017751 RCV001213330 |
764 | F>L | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S CMD1S [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA279312 RCV000201493 rs863225102 |
764 | F>Y | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000158526 RCV001192691 RCV000462424 VAR_019859 RCV000151276 CA012115 RCV000578019 RCV000820326 rs727503260 CA012108 RCV002444656 RCV000621337 RCV000158527 RCV003149920 |
768 | G>R | Cardiomyopathy Restrictive cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1892654331 RCV001235150 |
769 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389048660 VAR_042803 rs1425960124 |
774 | E>V | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000815744 CA10588572 rs2069544 RCV001170277 RCV000621369 RCV000255610 RCV000498052 CA012141 VAR_019860 RCV000788657 RCV002446499 |
778 | D>E | Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
CA012133 VAR_004590 RCV000015156 rs121913634 |
778 | D>G | Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001170278 rs730880895 |
778 | D>H | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000621047 RCV001850224 RCV000769460 RCV001172073 rs730880895 RCV002251738 CA012125 |
778 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000529995 RCV001700199 CA389048628 VAR_042804 rs121913634 |
778 | D>V | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM1300520 RCV000790990 rs1427104281 RCV002535823 CA389048626 |
779 | E>Q | MYH7-Related Disorders Variant assessed as Somatic; MODERATE impact. urinary_tract Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
rs1348730180 RCV000656550 CA389048612 RCV002442387 |
781 | L>M | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000477389 RCV000254190 CA10587779 rs886039185 VAR_020813 |
782 | S>N | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs730880736 CA012164 RCV000158528 RCV002516385 |
782 | S>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727503258 RCV001180078 CA012184 RCV002426777 RCV000158529 |
783 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs727503258 RCV000151274 CA012174 |
783 | R>G | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000618642 RCV000455847 RCV000444026 RCV001220856 rs397516142 COSM240790 RCV001808427 RCV000157359 CA012190 |
783 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy prostate Hypertrophic cardiomyopathy 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001179629 RCV002448601 rs397516142 CA389048601 RCV000540285 RCV003129886 |
783 | R>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012196 RCV000157360 RCV001852728 rs397516142 RCV000035784 |
783 | R>P | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001185674 rs1892652051 |
786 | T>A | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001114457 RCV000148709 RCV001114456 VAR_045927 RCV001114458 CA012232 rs145677314 RCV000766431 RCV000231165 RCV002444610 RCV000154774 RCV001170276 |
787 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000584813 RCV000148708 rs376754645 CA012239 RCV001705651 RCV000250929 COSM3706200 RCV000035789 RCV003320055 VAR_019861 RCV000392220 RCV000348947 RCV000354671 RCV000313839 RCV000776332 |
787 | R>H | liver Cardiomyopathy Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000693741 CA389048579 rs376754645 |
787 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000148959 rs606231337 |
789 | Q>missing | Familial cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA032435 rs550570026 RCV001314337 |
791 | Q>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001054237 rs1892650858 |
791 | Q>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1334451835 RCV001235498 CA389048544 |
792 | S>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003235359 COSM3814555 RCV001176909 RCV000696757 RCV002458259 RCV002510962 rs140175704 CA257819682 |
793 | R>* | Variant assessed as Somatic; HIGH impact. Cardiomyopathy Hypertrophic cardiomyopathy breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000801044 rs730880896 CA389048542 |
793 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000158841 RCV002453550 rs730880896 RCV000554316 CA012259 |
793 | R>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000769458 VAR_029440 rs1222361739 RCV002458376 CA389048527 RCV001855981 |
796 | L>F | Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000845386 CA012268 RCV000735308 RCV000158532 RCV000168872 RCV000473164 RCV000620547 RCV001189214 rs3218716 RCV000035790 RCV000515299 RCV000656214 VAR_004591 RCV001813750 COSM4781587 |
797 | A>T | MYH7-Related Disorders Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Severe combined immunodeficiency disease Primary familial dilated cardiomyopathy Wolff-Parkinson-White pattern Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555337796 CA389048516 COSM459192 RCV000520918 RCV001245125 |
798 | R>K | cervix Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001186021 RCV001356790 CA012281 rs730880737 |
800 | E>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000628971 rs775113608 CA389048490 |
801 | Y>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001302468 rs1892649223 |
804 | L>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629014 rs1555337794 CA389048470 |
804 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1408157651 RCV001053725 |
806 | E>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730880738 RCV000158534 RCV001229876 COSM1258469 CA012304 |
806 | E>K | oesophagus Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002446751 rs141414377 CA032556 RCV000428391 RCV003319198 RCV000584770 RCV001180607 |
807 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000989190 CA389048453 rs141414377 |
807 | R>P | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000035793 CA012334 RCV001035353 RCV003129762 rs397516147 RCV001524289 COSM954766 |
809 | D>Y | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000532757 CA389048414 rs1555337771 |
813 | V>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067648 rs1555337763 RCV000619099 CA389048394 |
816 | W>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876661372 RCV000223901 RCV001051002 CA10581174 RCV002444875 |
817 | N>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001796186 RCV003150330 CA032972 RCV002442437 RCV000689698 rs773009513 |
819 | R>Q | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000484931 CA16619849 RCV001851137 RCV001180609 COSM5722172 rs1064793206 |
819 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000813669 CA389048368 rs730880741 |
820 | A>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012357 RCV001798096 RCV001852729 rs397516148 COSM1515096 RCV000035794 COSM6140180 |
821 | F>S | lung Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
rs730880742 RCV000158539 RCV001207764 CA012368 VAR_042805 RCV000158840 RCV000688446 CA012377 |
822 | M>L | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1373092362 VAR_042806 CA389048357 |
822 | M>T | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs730880742 CA389048359 RCV000628976 |
822 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389048349 rs1278076805 VAR_042807 |
823 | G>E | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA389048351 RCV001235970 rs1566531657 RCV003128651 RCV000703430 |
823 | G>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002444619 RCV000227735 rs727503255 CA012405 |
824 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516149 CA389048345 VAR_029441 RCV003150349 RCV000788380 |
824 | V>I | Cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA012422 RCV002444657 RCV002515071 RCV000158540 rs730880743 |
825 | K>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167993 CA012451 rs786204091 |
827 | W>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45526433 CA389048323 RCV000807026 |
828 | P>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583170 rs878853837 RCV000230426 |
832 | L>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001250530 RCV001174685 rs397516151 |
833 | Y>* | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000158543 RCV002426778 rs730880746 RCV001721009 CA012477 RCV000814855 |
833 | Y>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516152 RCV000035798 CA012501 |
834 | F>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853465 RCV000215326 rs876657880 CA10576957 |
835 | K>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000769457 CA389048272 rs876657880 |
835 | K>R | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876657880 RCV001230053 |
835 | K>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000769456 RCV002494608 RCV000234295 RCV001293116 RCV000244256 CA10581173 rs772442923 RCV000223820 |
836 | I>M | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060501439 RCV000467403 CA16614488 RCV000758564 |
837 | K>M | Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221142 rs397516153 CA012515 COSM4432479 RCV000373365 RCV001253340 RCV000758065 |
838 | P>L | Variant assessed as Somatic; MODERATE impact. Restrictive cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
CA012505 rs397516153 RCV000151268 |
838 | P>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225103 CA279325 RCV000201507 |
842 | S>G | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001317561 RCV000148956 RCV000766435 CA012535 RCV001798097 rs397516154 RCV000035801 |
842 | S>N | Cardiomyopathy Hypertrophic cardiomyopathy Familial cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000774181 rs397516154 CA389048231 |
842 | S>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012554 RCV000156591 rs727505132 |
843 | A>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000158546 CA012562 RCV000172050 RCV000253031 VAR_020814 RCV001170274 rs730880748 |
846 | E>Q | Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000223913 RCV001251000 VAR_042808 rs397516155 RCV000168354 RCV000143922 RCV000248308 RCV000201461 |
847 | K>missing | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S CMH1 Hypertrophic cardiomyopathy 1 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000168873 RCV001798497 CA012578 RCV000758036 RCV001194066 RCV000622211 rs727504310 |
847 | K>E | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_042808 rs397516155 |
847 | K>del | CMH1 [UniProt] | Yes |
UniProt dbSNP |
|
CA012594 RCV000221330 COSM1742338 rs730880899 RCV001850225 |
848 | E>D | urinary_tract Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000201443 RCV002517306 rs863225099 |
848 | E>missing | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000461430 CA012584 RCV000770756 rs727504311 RCV000158548 |
848 | E>G | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000035803 CA012599 RCV002426554 RCV000788450 rs397516156 |
849 | M>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000454479 RCV000619115 RCV001205281 CA16609767 RCV001805056 rs1060499880 |
850 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA389048171 rs1466322212 RCV001057066 |
851 | S>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002477535 RCV002223906 RCV000688110 rs1343088568 RCV001176633 CA389048166 |
852 | M>I | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000158847 RCV001850226 CA012614 rs397516157 |
852 | M>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA389048168 rs1595082558 RCV000852455 |
852 | M>L | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000531843 CA389048167 rs397516157 |
852 | M>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000557637 RCV002453297 rs397516157 VAR_019862 CA012623 RCV000201446 |
852 | M>T | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001263484 rs1892625481 |
855 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA012630 RCV000035806 rs397516158 RCV000786175 RCV002490486 RCV000546729 |
857 | T>I | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002505152 CA012656 RCV001198295 RCV000457606 RCV000201448 RCV002453490 RCV000415053 RCV001524491 VAR_039563 RCV000225738 rs2754158 |
858 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy Myopathy Hypertrophic cardiomyopathy 1 CMH1; infrequent [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
CA012648 RCV001449663 RCV000588789 RCV000698652 rs2754158 |
858 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2856897 CA012665 RCV000154296 RCV002426735 VAR_042809 RCV001582627 |
858 | R>H | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2856897 CA257819426 RCV000621839 RCV000808337 |
858 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA389048119 RCV001061418 rs1483811980 RCV001759818 |
859 | L>F | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA389048114 rs1566531421 RCV000768486 |
859 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001852103 CA012673 rs759225115 RCV002453603 RCV000172891 |
860 | K>E | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389048098 rs1236517740 RCV000628997 RCV002492935 RCV001170273 |
861 | E>G | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs868789318 RCV000230840 CA10583169 RCV000853420 |
861 | E>K | Hypertrophic cardiomyopathy Ventricular tachycardia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001170272 rs149576470 RCV003236872 |
862 | A>G | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA012680 RCV001184308 RCV000590241 RCV003133120 RCV000464813 rs149576470 |
862 | A>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1595082485 RCV001177821 |
863 | L>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892629819 RCV001349180 |
863 | L>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802005 CA012685 rs730880749 RCV000223827 RCV002484973 RCV000158550 |
865 | K>E | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000556719 CA257819398 rs758891557 RCV002456038 |
865 | K>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002289917 COSM954764 rs758891557 CA033314 RCV003144402 RCV000628947 |
865 | K>R | Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003226447 RCV001222682 rs1892629291 |
866 | S>P | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1473607930 CA389048057 RCV001178415 |
866 | S>Y | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000852454 RCV000800251 RCV001177584 RCV000151261 RCV002426718 rs558673680 CA012692 |
867 | E>K | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000766436 CA012698 RCV003314568 RCV000622129 RCV000475271 RCV001189962 rs727504356 |
868 | A>P | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1216237 RCV002426779 RCV001798536 CA012714 RCV000853471 VAR_020815 rs730880750 |
869 | R>C | Cardiomyopathy large_intestine Hypertrophic cardiomyopathy CMH1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
VAR_019863 CA389048030 rs730880750 |
869 | R>G | CMH1 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV002426734 RCV001189960 rs202141173 VAR_042810 RCV000845415 RCV000587299 RCV000458948 COSM4050071 RCV000709745 RCV002498735 CA012723 |
869 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001261972 RCV000158554 rs138049878 RCV000148707 RCV000758035 RCV001189961 CA012732 RCV002433640 RCV002483292 VAR_020816 |
870 | R>C | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV001731289 RCV000233703 COSM6040764 CA012740 VAR_004592 RCV000626634 RCV000015177 rs36211715 RCV000157361 RCV000158555 |
870 | R>H | Arrhythmogenic cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001170271 CA10581172 RCV000808835 RCV000223870 rs36211715 |
870 | R>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA352009 RCV000208409 rs869025480 |
871 | K>N | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555337701 RCV000621002 RCV001384952 CA389047990 |
873 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000035809 rs397516159 RCV001347585 RCV002426555 |
875 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000477668 rs1060505018 CA389047943 RCV001197233 RCV000695003 RCV001228124 CA389047941 RCV002466513 COSM381925 RCV001191955 RCV002429971 CA16609633 |
877 | M>I | Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy 1 lung Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_020817 CA389047946 rs1282663873 |
877 | M>K | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs1060501436 CA16614088 RCV000472927 |
878 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001559101 CA012769 RCV000707167 CA389047937 RCV000158556 rs730880751 RCV001798968 RCV001207169 |
878 | V>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002429958 RCV001225862 rs730880751 |
878 | V>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795501 CA389047914 rs907992794 |
881 | L>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000700309 CA389047910 RCV002289980 rs1566531303 |
881 | L>P | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389047909 RCV000995813 rs1566531303 |
881 | L>R | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002286699 CA012781 RCV001723607 RCV000628861 RCV001262905 rs397516160 VAR_042811 |
882 | Q>E | Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA389047891 COSM1369230 RCV000660461 rs140434009 |
883 | E>D | large_intestine Dilated cardiomyopathy 1S [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD |
|
CA389047898 rs1212642361 RCV000628902 RCV002457982 |
883 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_019864 rs1314609309 |
883 | E>missing | CMH1 [UniProt] | Yes |
UniProt dbSNP |
|
VAR_019864 rs1314609309 |
883 | E>del | CMH1 [UniProt] | Yes |
UniProt dbSNP |
|
RCV000535144 rs193922387 RCV000617337 RCV000520629 RCV000766940 |
884 | K>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225095 CA279315 RCV001297501 RCV000201496 |
885 | N>K | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188502 rs1892625736 |
885 | N>Y | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808501 CA10587774 rs886038813 RCV000243044 |
889 | L>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351786 rs886038813 |
889 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345668 rs1892624771 |
891 | V>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389047810 RCV000551446 rs1555337684 |
892 | Q>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000557182 RCV000151259 RCV000788524 rs727503254 CA012807 |
893 | A>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001179366 rs750204313 |
893 | A>S | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750204313 RCV002483960 RCV003130173 CA033674 RCV001875829 RCV001176922 |
893 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000487427 CA012811 RCV002426736 rs727503254 RCV001699209 RCV000795089 COSM4050070 |
893 | A>V | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001000982 RCV000242919 VAR_042812 RCV000198644 CA012832 RCV002482966 RCV000223927 RCV000162341 rs397516161 RCV000257928 RCV001170269 |
894 | E>G | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA012840 rs397516162 RCV000168877 RCV000457072 |
895 | Q>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046568 rs1892600025 |
895 | Q>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892600025 RCV001186134 |
895 | Q>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000148955 CA012857 RCV001781460 rs606231340 |
896 | D>N | Familial cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504407 RCV000154590 CA012863 RCV001850117 |
898 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730880753 RCV001850215 RCV000158561 CA012871 |
899 | A>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001857567 CA012887 rs730880755 RCV000158563 RCV001342138 |
900 | D>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1406848007 VAR_042813 CA389047337 |
901 | A>G | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001253706 rs869130333 CA10576956 RCV000215718 |
902 | E>K | Variant assessed as Somatic; MODERATE impact. Dilated cardiomyopathy 1S [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs773468693 RCV001052979 RCV001181500 |
903 | E>D | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207060 rs727504261 CA012900 RCV000154244 |
903 | E>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003313941 CA012894 rs730880756 RCV000768487 |
903 | E>K | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208793 CA389047321 rs730880756 |
903 | E>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000208124 RCV000240635 COSM1258462 CA012904 RCV001537865 RCV002426717 RCV000685493 rs727503253 |
904 | R>C | oesophagus Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000845382 RCV000505767 RCV000208309 RCV000550238 CA012913 rs397516165 RCV002251732 RCV000620255 RCV000769455 |
904 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs397516165 RCV000528941 RCV002438278 CA257819011 |
904 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880757 CA389047297 VAR_029442 |
905 | C>F | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000158568 RCV000628883 rs730880757 CA012920 RCV000769454 |
905 | C>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002429921 rs730880757 RCV001216069 |
905 | C>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000035817 RCV000762923 RCV001181317 RCV000617405 rs267606908 RCV000469895 VAR_042814 RCV000015185 RCV000158569 CA012936 |
906 | D>G | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001852730 CA012945 RCV000035819 rs397516167 |
907 | Q>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000015153 RCV000078452 RCV000247943 rs121913631 CA012953 RCV000458449 RCV001177579 RCV000035820 VAR_004593 |
908 | L>V | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV003139746 RCV000539234 rs1555337594 |
909 | I>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566530777 CA389047241 RCV001069425 RCV002477754 RCV000770490 |
911 | N>Y | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880758 RCV001868133 RCV000617224 CA389047231 |
912 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204087 CA012988 RCV000167984 |
912 | K>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000620973 RCV000703483 rs1555337597 CA389047222 |
912 | K>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595081812 RCV000803073 CA389047213 |
913 | I>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1360649783 CA389047218 RCV000698524 |
913 | I>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175977 rs1892595728 |
913 | I>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000154584 CA012994 rs727504404 RCV001184478 |
914 | Q>H | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013003 rs397516166 RCV000035818 RCV000845298 |
915 | L>P | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501437 RCV000460985 CA16614155 |
916 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566530741 CA891844298 RCV000690296 |
917 | A>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA034207 RCV001525564 RCV001034827 rs779467831 RCV003160199 |
921 | E>A | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs730880759 VAR_042815 RCV000549326 RCV001262906 COSM1707195 RCV000158572 CA013020 RCV002433700 |
921 | E>K | skin Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy CMH1 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs138756911 CA034234 RCV001305162 CA257818961 |
922 | M>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001110336 CA034223 RCV003320212 RCV001306143 RCV002440621 RCV001177782 RCV000788407 RCV001110337 rs771599539 |
922 | M>T | Cardiomyopathy Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000678977 CA389047110 rs1566530698 |
924 | E>G | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000015148 VAR_004594 CA013034 rs121913628 RCV000770489 RCV000252292 RCV000762922 RCV002054441 RCV000197762 RCV000158573 |
924 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_029443 CA389047115 rs121913628 |
924 | E>Q | CMH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs1892592854 RCV001055219 |
925 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555337583 CA389047089 RCV000628963 |
926 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001217261 rs575013686 CA034272 |
926 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA013043 RCV000035825 rs397516170 RCV001798098 VAR_042816 |
927 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
| VAR_020818 | 927 | E>del | CMH1 [UniProt] | Yes | UniProt |
|
rs727503252 VAR_029444 CA013046 RCV000527742 RCV000158574 RCV000622071 |
928 | D>N | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002433704 CA013062 RCV000158852 rs727504558 RCV001306502 |
928 | D>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001857554 CA013070 rs730880161 RCV000157362 RCV000225718 |
929 | E>K | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516171 RCV000242427 VAR_004595 CA013078 RCV000158854 RCV000035826 |
930 | E>K | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001798472 RCV003320108 rs397516171 RCV000695329 RCV000515259 CA013084 RCV003147346 RCV003147351 RCV003147349 RCV000158575 RCV003147350 |
930 | E>Q | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_004596 | 930 | E>del | CMH1 [UniProt] | Yes | UniProt |
|
RCV000158830 rs397516172 RCV000707732 |
931 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002433701 RCV000541761 CA013097 RCV000158576 rs730880760 |
931 | E>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_042817 CA389047044 RCV000493293 rs1131691514 RCV002524033 COSM3885904 |
931 | E>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy CMH1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA013102 RCV000770488 RCV000172049 rs202097576 RCV002515258 |
932 | M>T | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001851866 rs121913639 RCV000015162 CA013118 VAR_004597 |
935 | E>K | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV003320119 CA013125 RCV000790958 RCV000158577 rs730880761 RCV001187170 RCV002478478 RCV002433702 RCV000790957 RCV001313026 |
935 | E>V | MYH7-Related Disorders Cardiomyopathy Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA013131 rs763082533 RCV000810318 RCV001180801 RCV003317124 |
938 | A>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001053446 rs1892589978 RCV002509599 |
939 | K>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001185208 rs1892589863 RCV002491544 |
940 | K>M | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM183308 RCV001187431 rs750435648 |
941 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV001525515 RCV000788522 rs765458590 RCV002535779 COSM1369228 CA034403 |
941 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA034383 RCV002510896 rs750435648 RCV000458807 RCV001178873 |
941 | R>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1892589158 RCV001186144 |
947 | C>* | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013144 rs121913629 RCV001618212 VAR_004598 RCV000154208 RCV000015149 RCV000770487 |
949 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA013153 RCV000656920 RCV001362171 RCV000035830 RCV000770486 rs397516175 |
949 | E>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389046822 RCV000820816 rs1230261713 RCV001805900 |
951 | K>R | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA389046811 RCV000770485 rs1446444428 |
952 | R>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_042818 rs1391622163 CA389046802 RCV000700152 |
953 | D>H | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000223789 RCV000158855 CA013157 rs730880901 RCV000226190 RCV002433705 |
953 | D>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs886039204 COSM3495228 RCV001529965 CA10587773 RCV000251778 RCV000552105 |
955 | D>N | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000497921 CA10587769 RCV000249682 rs727504374 RCV001859467 |
961 | L>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211960 rs886038901 RCV000252283 |
964 | V>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000282513 RCV000277164 RCV000618924 RCV000415867 RCV000625843 CA013168 RCV000035831 RCV000229046 RCV000171841 RCV000332160 RCV000771360 rs45496496 RCV003320057 |
964 | V>L | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs863225100 RCV000494219 RCV000201512 CA279332 |
965 | E>K | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322886 rs1892586321 |
966 | K>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs727503250 RCV002514912 RCV000151253 CA013177 |
967 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000628849 CA389046622 rs1446657813 |
970 | A>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001851383 RCV001188967 rs1446657813 RCV002438210 RCV000497844 COSM4889121 CA389046624 RCV001290546 |
970 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA257818867 rs45468702 RCV001204141 |
970 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA257818865 RCV003166841 rs141191984 RCV001318361 |
972 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV002436772 rs1892576769 RCV001197362 |
975 | V>M | Congenital myopathy with fiber type disproportion [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886050421 RCV000391654 RCV000391670 RCV000299716 RCV000305464 RCV003320166 CA10643997 |
979 | T>R | Dilated cardiomyopathy 1S Myosin storage myopathy MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000725743 RCV003320058 RCV000292823 RCV000148698 CA013227 RCV001094109 RCV002433495 RCV000199809 RCV000352353 RCV002490487 rs145532615 RCV000334844 RCV000035834 RCV000247539 RCV000758042 RCV000845384 |
982 | M>T | Increased left ventricular wall thickness Cardiomyopathy Left ventricular noncompaction Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Inborn genetic diseases Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001333313 rs1892575677 |
984 | G>V | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013234 RCV001850227 RCV000158856 rs730880902 |
987 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002525934 rs989475429 CA16619848 RCV000482502 |
988 | I>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000348122 RCV000351443 CA035008 RCV000402174 RCV000289515 rs753137666 RCV003320164 RCV000311891 |
990 | A>T | Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs727504388 RCV001184476 CA013250 RCV000154547 RCV002498742 RCV001345824 |
991 | K>N | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013260 RCV000158581 RCV003298182 RCV001306134 RCV001187171 rs149840927 |
992 | L>M | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001337317 rs1892574151 |
993 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003320233 RCV001110246 RCV001862879 RCV001110247 RCV001114269 RCV001186778 CA389046342 rs1298804415 |
994 | K>R | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1298804415 RCV001190753 |
994 | K>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389046298 RCV000799087 rs1595081345 |
998 | A>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002478479 RCV001065622 rs730880762 RCV002433703 CA013300 RCV000158582 RCV001187172 |
1004 | Q>E | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892572179 RCV001170268 |
1006 | A>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730880763 RCV000621750 CA013309 RCV000158583 RCV001797639 |
1007 | L>P | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389045880 RCV001183003 rs1308445601 RCV000498027 RCV001857022 |
1007 | L>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001308955 rs768312155 RCV002437053 RCV002504471 CA035267 |
1010 | L>F | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002436162 RCV000290926 RCV001364427 RCV000320862 CA035299 RCV000378340 RCV001729526 RCV000777729 RCV003320163 RCV000489125 RCV000379421 rs779973529 |
1012 | A>D | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001850216 RCV003227682 rs730880764 RCV000158584 CA013322 RCV001525776 |
1013 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA389045821 rs730880764 RCV001190482 RCV000530259 |
1013 | E>Q | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000176355 VAR_042819 RCV000813795 rs755392435 CA013337 RCV003320134 RCV001180810 |
1019 | T>N | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMD1S [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA16614405 RCV000473041 rs751904168 |
1020 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001089630 rs1892569850 |
1021 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000999572 rs1595081245 CA389045738 |
1022 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000774490 rs767004235 CA035427 |
1023 | A>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001346209 RCV000035840 CA013343 rs397516177 RCV003133122 |
1028 | E>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001177639 rs765570412 CA257818692 |
1030 | Q>H | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1892568655 RCV001066016 |
1031 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013351 RCV000158585 RCV001850217 rs730880765 |
1032 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000459795 rs761574227 CA16614485 |
1033 | D>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA257817960 RCV002476588 RCV001344252 RCV003132438 rs1000681552 |
1036 | G>E | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001202536 rs1892506869 |
1036 | G>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065170 RCV001593244 RCV002320329 rs1159928168 RCV003320228 RCV002482089 RCV001110912 RCV001110915 CA389045508 RCV001110913 |
1037 | S>Y | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA035756 RCV001184832 RCV003302724 rs199573700 RCV000490053 RCV000540550 |
1039 | E>G | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA013364 RCV001850218 RCV000158586 rs730880766 |
1042 | K>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA257817945 rs991485633 RCV002320400 RCV001179928 RCV001875960 |
1042 | K>R | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1892505925 RCV001528519 RCV001180706 |
1043 | K>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_067260 | 1044 | V>A | CMD1S [UniProt] | Yes | UniProt |
|
RCV001537864 CA013367 rs45611033 RCV000658686 RCV000628877 RCV002321635 RCV001170267 |
1045 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs397516178 CA035801 RCV000806326 RCV001192144 |
1045 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002496541 rs397516178 RCV000629019 CA013375 RCV001703459 RCV001258092 RCV001188088 RCV002321503 |
1045 | R>L | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000222375 RCV001329731 rs201195256 RCV001057776 CA035844 RCV000776202 COSM3495226 |
1046 | M>I | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002482143 rs763760498 RCV001071435 CA035837 |
1046 | M>R | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001171208 rs763760498 CA389045415 |
1046 | M>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000770483 rs1566529310 CA389045419 |
1046 | M>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013380 rs730880767 RCV002515072 RCV001181611 RCV000158589 |
1050 | R>* | Variant assessed as Somatic; HIGH impact. Cardiomyopathy Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002533964 rs759579652 CA389045372 RCV000770481 |
1050 | R>Q | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001304467 rs727504358 |
1051 | A>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013389 RCV000154488 RCV001560656 RCV000989189 RCV001183972 rs727504358 RCV002321636 RCV000628879 |
1051 | A>V | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA389045360 rs1566529274 RCV000770480 |
1052 | K>E | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000143923 RCV000158590 rs587782962 CA013417 COSM1216240 RCV003149914 RCV000621026 RCV000529602 |
1053 | R>Q | Cardiomyopathy Primary familial hypertrophic cardiomyopathy large_intestine Hypertrophic cardiomyopathy [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002321667 rs730880903 CA013411 RCV002516392 RCV000769453 |
1053 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001039883 rs730880768 RCV000158591 CA013421 |
1054 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002496850 RCV000700691 rs747198710 RCV002525769 CA036012 |
1056 | E>D | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_042820 rs1298412196 CA389045319 RCV000584763 |
1057 | G>D | Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000035843 RCV000244617 CA013436 rs397516179 RCV000766440 RCV001190251 VAR_042821 RCV000475413 |
1057 | G>S | Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000470247 CA013446 rs730880770 RCV000619515 RCV000158594 |
1058 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880770 RCV000158595 RCV001320177 CA013452 |
1058 | D>Y | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA389045277 RCV000544222 rs1555337299 RCV002497039 |
1062 | T>S | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389045228 RCV000812736 rs1218107954 |
1066 | I>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001776136 RCV002484035 rs763564858 RCV002320418 RCV001189553 CA036139 |
1067 | M>T | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1892500486 RCV001342160 |
1068 | D>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000628979 CA389045189 rs1555337294 |
1070 | E>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA036217 RCV002487790 rs759256990 RCV000815076 |
1077 | D>Y | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001171207 RCV000172886 rs727504342 CA013473 RCV001197489 RCV000154461 RCV000803421 |
1079 | R>Q | Cardiomyopathy Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001704089 RCV000627137 RCV000326571 RCV000277463 RCV000151250 rs192722540 RCV000269104 RCV001094089 RCV003320107 RCV000365939 RCV002444618 RCV000777762 CA013466 |
1079 | R>W | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000800932 rs730880771 CA013486 RCV000158598 |
1081 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001066095 rs1892454098 |
1084 | D>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460286 COSM3495225 CA036626 rs746074103 |
1095 | E>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000529912 RCV000656921 RCV001265537 RCV003320065 RCV000201875 RCV000491282 RCV000590886 RCV000758039 RCV001114182 RCV000035846 RCV000620264 CA013546 rs45478699 |
1096 | D>Y | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA036679 RCV001187475 CA257816448 rs375323916 RCV001232948 RCV001547746 RCV002505788 |
1098 | Q>H | Cardiomyopathy Hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000148706 RCV000766444 COSM240789 CA013562 rs367546859 RCV000455124 RCV000544518 RCV000250091 RCV001175841 |
1101 | G>S | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_067261 | 1101 | G>del | CMD1S [UniProt] | Yes | UniProt |
|
RCV001204705 rs1892450549 |
1103 | Q>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10587771 RCV000248294 rs886038988 RCV002518704 |
1107 | K>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389044324 RCV000584768 RCV001755980 rs1429196201 |
1109 | K>E | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614086 rs1060501440 RCV000462931 |
1110 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389044302 rs1346156456 RCV001182163 |
1111 | L>F | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000559337 RCV000158603 RCV000625702 CA013599 rs193922388 |
1113 | A>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1204830698 RCV001191279 CA389044214 |
1114 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
COSM1216235 RCV001344619 CA013608 RCV000158604 rs730880773 |
1114 | R>H | large_intestine Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001326014 rs730880773 CA389044212 |
1114 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1204830698 RCV001186740 |
1114 | R>S | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000158602 RCV000154273 rs727504274 CA013624 |
1116 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000149894 rs141735183 CA013629 COSM698152 |
1117 | E>* | lung Variant assessed as Somatic; HIGH impact. Cardiomyopathy [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA279329 RCV000201510 rs863225098 |
1120 | E>K | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886041113 CA10602713 RCV000258941 |
1121 | E>D | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000597706 rs1555337159 RCV000538070 |
1122 | L>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317038 rs753801146 RCV001724293 CA037148 |
1123 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000820038 RCV000242937 rs730880904 CA10587767 |
1125 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA013654 RCV001171204 RCV000158858 rs730880904 RCV003162664 RCV002515077 |
1125 | E>Q | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs767561318 RCV000624367 RCV000469088 CA037156 |
1126 | R>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199552354 RCV000471337 RCV002453299 RCV000758075 RCV000172567 RCV000035852 CA013661 |
1128 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA389043995 RCV000788299 rs1195446785 VAR_019865 |
1135 | L>R | CMH1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1204782115 RCV000688602 CA389043990 |
1136 | R>C | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000766446 RCV002515078 RCV000623814 rs730880905 CA013679 RCV000158859 |
1136 | R>H | Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs730880905 CA389043989 RCV000628885 |
1136 | R>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000774488 rs1407919500 RCV001575007 CA389043939 RCV001856089 |
1141 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000558409 rs1479746343 CA389043919 |
1143 | L>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000801904 rs1595078448 CA389043883 |
1147 | S>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892414802 RCV001187107 |
1147 | S>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002531765 RCV000620051 CA389043860 rs768978215 |
1149 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA389043849 rs1370927693 RCV000774322 |
1151 | E>Q | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002259311 RCV000035854 rs397516184 CA013725 RCV000706291 RCV002477071 RCV002453300 RCV000769451 |
1152 | E>V | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA037451 rs774812187 RCV002451164 RCV001042871 RCV002505571 |
1153 | A>T | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002245662 CA389043818 rs1211784451 RCV000774382 RCV001228361 |
1154 | G>S | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002223768 CA013748 rs397516186 RCV002460039 RCV001315888 RCV000035857 |
1155 | G>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1226515434 CA389043796 RCV000810632 |
1156 | A>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA013757 RCV002460050 rs730880775 RCV001857568 RCV000158607 |
1157 | T>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892412993 RCV001317586 |
1157 | T>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001248603 rs730880776 RCV000158608 RCV002453545 CA013775 |
1159 | V>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1376667533 RCV001766540 RCV000701737 CA389043761 |
1160 | Q>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000773464 rs778909719 RCV002334437 CA037569 |
1161 | I>M | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002453546 CA013782 rs730880777 RCV000688586 RCV000158609 |
1164 | N>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001051034 rs766412659 CA037686 |
1167 | R>H | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA389043674 RCV000772535 RCV001301434 rs1566527832 COSM5767169 |
1168 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001298019 rs750627218 CA037712 RCV001525105 |
1170 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001227137 rs1892409857 |
1174 | M>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536882 CA037752 rs566368210 |
1175 | R>W | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000794278 RCV000223885 CA013801 RCV000766447 RCV002453547 rs546586969 |
1184 | Q>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs546586969 CA389043509 RCV000550909 |
1184 | Q>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA389043459 rs1566527771 RCV000774108 |
1188 | T>I | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389043460 rs1566527771 RCV001351230 |
1188 | T>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013815 RCV000158611 RCV001449662 RCV001059046 RCV000627139 rs397516187 |
1193 | R>H | Hypertrophic cardiomyopathy Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10587766 VAR_042822 rs886039090 RCV001854984 RCV000251938 |
1193 | R>S | Hypertrophic cardiomyopathy CMD1S [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002491667 RCV001216074 rs1487430775 CA389043371 |
1197 | A>T | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000215486 rs876657883 RCV000811114 |
1198 | D>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM954761 RCV000168890 CA013820 rs730880778 RCV000771904 |
1198 | D>N | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000622778 RCV000853430 CA389043359 rs730880778 |
1198 | D>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs375283149 RCV001057096 CA037979 RCV000773335 |
1200 | V>M | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001190959 rs748011341 |
1202 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013846 RCV000035859 RCV001567208 rs397516188 RCV000765161 RCV001056470 |
1204 | G>R | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002453523 RCV000414966 RCV000534779 rs727505026 CA013863 RCV000156452 RCV001253538 |
1205 | E>K | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000989188 RCV001796071 CA038128 RCV001856815 rs529700838 RCV000480443 RCV000620521 |
1207 | I>M | MYH7-Related Disorders Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000158615 rs730880780 RCV002453548 CA013873 RCV002484974 RCV001312375 |
1207 | I>N | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013891 rs730880781 RCV000821837 |
1208 | D>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA079535 RCV000621190 rs730880781 RCV000208329 RCV000804739 |
1208 | D>N | Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs730880782 RCV000158617 CA013908 RCV001230123 |
1209 | N>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001237716 rs1892401667 RCV002451574 |
1211 | Q>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892401372 RCV001246222 RCV001528855 |
1212 | R>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000627150 RCV001055999 rs1555337102 CA389043221 RCV001089616 |
1212 | R>W | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000766449 RCV000472710 RCV000617231 CA013913 rs397516182 RCV000035851 |
1213 | V>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000201442 RCV002517305 CA279271 rs863225096 RCV000523764 |
1215 | Q>H | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035564 rs915081927 |
1215 | Q>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_019866 CA389043167 rs1170782159 |
1218 | E>Q | CMH1 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000243331 rs397516190 RCV000035861 VAR_073882 RCV000487455 RCV001852732 |
1220 | E>missing | Ebstein anomaly CMD1S Left ventricular noncompaction Hypertrophic cardiomyopathy [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_073882 rs397516190 |
1220 | E>del | CMD1S [UniProt] | Yes |
UniProt dbSNP |
|
rs730880889 RCV002023493 |
1221 | K>GK | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000415043 RCV000176615 CA013954 rs794727410 RCV002517699 RCV001798631 RCV002453630 |
1223 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002456391 RCV001306501 rs794727410 |
1223 | E>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806088 RCV001256684 CA10577506 RCV000217474 rs876661211 |
1226 | L>V | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs370750044 RCV001071394 RCV002348485 |
1230 | D>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA038322 rs745970387 RCV001875900 RCV001178483 |
1234 | N>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001308553 rs730880890 RCV000158832 |
1235 | M>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206149 RCV001844272 rs1361182615 |
1237 | Q>H | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071823 rs1892397333 |
1237 | Q>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167342 CA389042932 RCV003126658 RCV000491510 |
1239 | I>V | Hypertrophic cardiomyopathy Arrhythmogenic right ventricular dysplasia 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001247088 RCV001525590 rs757538583 RCV002348842 CA038346 |
1241 | A>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA014003 RCV000172046 RCV000819613 rs200746981 |
1244 | N>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA014012 RCV000035864 RCV002482967 rs397516192 RCV003129763 RCV001037116 |
1245 | L>Q | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001223086 rs1384488225 RCV001526200 RCV002348745 |
1247 | K>missing | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000471791 RCV000498303 rs1060501434 CA16614479 |
1248 | M>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001183921 RCV000989187 CA389042770 rs727503249 RCV002549722 |
1250 | R>G | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs540263945 RCV001850219 CA014046 RCV000158619 |
1250 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001753533 rs727503249 RCV001347825 RCV000151246 RCV002345471 RCV001844051 CA014039 |
1250 | R>W | Left ventricular noncompaction Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001181745 rs1892382659 |
1251 | T>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180628 rs1892381836 |
1256 | M>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796058 CA389042693 rs1595077685 |
1257 | N>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000620286 RCV001094206 RCV003320131 RCV000172045 RCV000168894 CA014062 RCV000344947 RCV000758061 RCV000368928 RCV000287650 RCV000391052 rs574005462 |
1257 | N>S | Cardiomyopathy Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747308839 RCV000176718 CA014087 RCV001852178 |
1260 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002483767 RCV001189996 RCV003302973 rs747308839 RCV000628951 RCV001559512 CA038820 |
1260 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002261218 CA038804 RCV000803525 RCV001177517 rs755386220 |
1260 | R>W | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000774485 CA389042641 rs1566527289 |
1261 | S>R | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001179057 rs193922389 CA014093 RCV000628858 RCV000586251 |
1261 | S>R | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA038858 VAR_067262 rs758889483 |
1263 | A>E | CMD1S [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA389042619 RCV000538673 rs758889483 RCV003302767 |
1263 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001177625 CA038976 RCV003302768 RCV003320191 RCV001112757 RCV003133306 RCV000553289 rs200000290 RCV001112758 |
1267 | Q>H | Cardiomyopathy Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1892379072 RCV001175710 |
1268 | R>C | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397516194 RCV000035868 RCV001418310 RCV000769450 RCV002354188 CA014102 |
1268 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397516194 CA014107 RCV002515073 RCV000158620 |
1268 | R>P | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000158860 RCV001180079 RCV000821381 RCV002354392 rs730880906 CA014120 |
1272 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001055192 RCV000158622 RCV002354389 rs730880784 CA014129 |
1275 | S>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000439310 RCV003320138 RCV000208514 rs397516195 RCV002354588 CA070665 RCV000810770 |
1277 | R>P | Hypertrophic cardiomyopathy Myosin storage myopathy Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000035869 CA014144 RCV000765160 rs397516195 RCV003318340 RCV000475071 RCV001189926 RCV000788815 |
1277 | R>Q | Cardiomyopathy Long QT syndrome Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs727503248 RCV002355013 RCV001045756 CA039045 RCV001526114 RCV003130117 |
1277 | R>W | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001179728 rs1892376484 |
1278 | A>D | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321422 RCV001724296 rs1892375580 COSM3495222 |
1283 | E>K | Variant assessed as Somatic; MODERATE impact. Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
rs397516196 CA014172 RCV001198766 RCV000628955 RCV003129764 RCV001525525 RCV000035871 |
1286 | E>K | Cardiomyopathy Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs180824037 RCV000469353 CA16614083 |
1289 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA389041779 RCV002363194 RCV002536173 RCV003320763 RCV000850345 rs1287612987 RCV002487879 |
1289 | R>Q | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000415721 RCV000415697 RCV001357744 RCV001180329 CA16043997 RCV001865310 rs180824037 |
1289 | R>W | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000780520 RCV001233105 RCV000158623 RCV001797640 CA014200 RCV002484975 rs730880785 |
1295 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_067263 | 1297 | L>V | CMD1S [UniProt] | Yes | UniProt |
|
RCV001775977 rs1443114333 RCV002369957 RCV000704815 CA389041636 |
1303 | R>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000156870 RCV002354384 RCV000461886 RCV000790939 CA014218 RCV001177860 rs727505325 |
1303 | R>Q | MYH7-Related Disorders Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA389041617 RCV000820094 rs1595077213 |
1305 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000168204 rs786204174 CA014225 |
1306 | L>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000208131 CA351785 rs869025481 |
1310 | Q>P | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000553836 CA389041545 rs1555336958 |
1312 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002376983 rs886050419 RCV000538938 CA389041549 |
1312 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001064245 RCV001179708 rs921429381 CA257814606 RCV001759828 |
1314 | D>E | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1892359761 RCV001053137 |
1315 | L>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326042 rs1892358961 |
1321 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001525477 RCV002522300 RCV000330935 RCV000385552 RCV001540354 CA039802 RCV000281839 rs768393069 RCV000363030 RCV003320160 |
1325 | A>V | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001190442 RCV000168898 RCV002372034 rs730880786 CA014301 RCV000459054 |
1326 | K>R | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001080835 RCV000588247 RCV000758038 rs141764279 RCV000035878 CA014310 VAR_042823 RCV001112663 RCV000254007 RCV001112662 RCV003320036 RCV000030319 RCV000852700 RCV000765159 |
1327 | N>K | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Ventricular fibrillation Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000532006 RCV001189927 CA014317 RCV000242742 RCV000765158 RCV000035879 rs372727092 RCV000656922 |
1328 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1566526391 RCV000785046 |
1329 | L>missing | MYH7-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685068 COSM3419725 RCV000766755 RCV002477072 RCV001178113 RCV000035880 rs397516198 CA014334 |
1332 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. large_intestine Hypertrophic cardiomyopathy prostate Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003302974 RCV001190429 rs940589674 RCV000628956 CA257813922 |
1333 | L>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA389041268 RCV000691125 rs1238061743 |
1334 | Q>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189928 COSM416233 rs397516199 RCV000035881 RCV000699316 RCV000766453 RCV002371825 RCV002477073 CA014343 |
1335 | S>L | lung Cardiomyopathy Variant assessed as Somatic; MODERATE impact. urinary_tract Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001340922 rs1892320047 |
1336 | A>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001585935 RCV001036642 rs368575559 |
1337 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368575559 CA014363 RCV000619617 RCV000158627 RCV002492624 RCV000778008 RCV001225105 |
1337 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs763326046 CA040023 RCV000478000 RCV001524278 |
1337 | R>W | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001245986 rs1892317615 |
1338 | H>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002374895 CA040080 RCV001048935 rs746724436 RCV001183015 |
1341 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000190606 RCV000223729 RCV001852531 CA276011 RCV000211873 rs797045097 RCV001179058 RCV002354537 |
1344 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001186002 RCV000154475 CA014372 RCV003298164 RCV000766454 rs727504352 RCV001850114 RCV003152685 RCV002483336 |
1344 | R>W | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000213667 RCV001854734 RCV002372234 RCV000825377 rs730880787 CA10577505 |
1346 | Q>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA040155 RCV001047438 rs778542758 |
1347 | Y>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA389041136 RCV002492934 RCV001189994 RCV000628908 RCV001551781 COSM3495219 rs1275262402 |
1348 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1566526272 RCV000678262 RCV001371262 RCV000769449 CA389041121 |
1349 | E>K | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001037288 rs1892314995 |
1350 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014388 COSM4050068 rs370403289 RCV001338291 RCV001171202 RCV000148705 |
1351 | T>M | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1892314426 RCV001207277 RCV001175951 |
1353 | A>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001185930 rs1892313725 |
1355 | A>D | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773628 rs755058300 RCV003130032 RCV002325471 CA040248 |
1355 | A>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA014400 RCV000772181 RCV000223815 RCV000584808 VAR_042824 RCV000151243 RCV000461192 COSM144473 RCV001808414 rs727503246 RCV000619582 |
1356 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy haematopoietic_and_lymphoid_tissue Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
RCV000725742 RCV000677338 RCV000769448 rs45451303 RCV000201890 RCV002321639 CA014422 VAR_073883 RCV000154773 RCV001315887 |
1359 | R>C | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Primary dilated cardiomyopathy LVNC5; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs750836033 RCV000626205 RCV001171201 RCV000220857 COSM75523 RCV001054083 RCV002321840 CA040309 RCV001529005 |
1359 | R>H | ovary Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S breast [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001058290 RCV003133155 rs45451303 RCV000156905 CA014415 |
1359 | R>S | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs730880789 CA014443 RCV001366512 RCV000158633 RCV002321666 |
1360 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880789 RCV001176981 RCV002558837 |
1360 | V>D | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001188109 CA014435 RCV000035885 RCV003129765 RCV001062732 rs373231077 RCV002490489 |
1360 | V>I | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA257813805 RCV000769446 rs112771600 |
1362 | S>P | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325544 RCV002501075 CA040392 RCV001185407 rs767000995 RCV000802060 |
1366 | S>L | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003302975 RCV000629025 RCV002510938 CA389040941 rs1555336835 COSM4896593 |
1367 | E>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
rs771892152 RCV001176990 RCV001875833 CA040417 |
1368 | V>M | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1595076182 RCV001171200 RCV002558714 CA389040916 |
1369 | A>G | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566526148 RCV000703267 CA389040855 |
1375 | Y>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727503245 CA014482 RCV000823746 RCV001171199 |
1375 | Y>C | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306500 rs730880790 CA014472 RCV001542485 RCV000158634 |
1375 | Y>H | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_019867 RCV000617360 RCV001171198 COSM221445 RCV001807755 RCV000208315 rs397516201 RCV000552931 RCV000518840 CA014494 RCV000785047 RCV002504879 |
1377 | T>M | MYH7-Related Disorders Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy haematopoietic_and_lymphoid_tissue Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000628847 rs1158392172 CA389040830 |
1378 | D>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA014513 RCV000035888 rs397516203 RCV001170997 |
1379 | A>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516202 RCV000531350 CA389040813 |
1379 | A>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000035887 VAR_019868 RCV000619392 RCV003149622 CA014503 RCV000505712 rs397516202 RCV000162337 RCV000629005 |
1379 | A>T | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002327272 rs777589215 RCV001040193 CA040518 |
1380 | I>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs727504325 RCV001347715 |
1382 | R>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001177330 RCV000766456 COSM4050067 RCV002287373 CA014533 RCV000560763 RCV000620123 rs727504325 |
1382 | R>Q | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs730880910 RCV002326906 RCV001320929 CA014527 COSM2031785 RCV003320126 RCV001110681 RCV000158864 VAR_019869 |
1382 | R>W | pancreas Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Myosin storage myopathy CMH1 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000686624 rs727504703 CA014542 RCV000155987 RCV001249250 |
1386 | L>F | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880792 RCV003320120 RCV001109895 RCV001109893 COSM3814553 RCV000158638 RCV000621684 RCV001109896 CA014551 RCV000766457 RCV000457747 |
1387 | E>K | Variant assessed as Somatic; MODERATE impact. Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy breast Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs730880792 RCV001313697 CA040548 RCV002329263 |
1387 | E>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1892306997 RCV001191766 |
1390 | K>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751075815 RCV002560056 CA041079 RCV001189592 |
1394 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001170996 rs370069461 |
1396 | R>L | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003320121 RCV001113920 RCV001113922 RCV001180568 RCV001212491 RCV000158641 CA014586 RCV001113919 RCV003162663 rs370069461 |
1396 | R>Q | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001804875 RCV000158640 CA014576 RCV000823777 rs730880793 |
1396 | R>W | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1892280463 RCV001342368 |
1397 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201625 RCV000416097 CA014617 RCV000158495 rs730880725 |
1399 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389040533 RCV000814934 rs730880794 |
1400 | A>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014630 RCV000628978 RCV000158642 RCV002326901 rs730880794 |
1400 | A>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001170995 rs774351170 |
1401 | E>D | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371552806 RCV003298055 RCV002466419 RCV000035893 RCV000766458 RCV000771884 RCV000198818 CA014652 |
1404 | V>M | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001183906 RCV001876121 CA389040483 rs1431555615 |
1405 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000822740 CA014677 RCV002484976 RCV000158644 RCV001180569 rs730880795 |
1407 | V>I | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389040445 rs747540624 RCV001234477 |
1408 | N>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
COSM698154 RCV001231855 CA389040438 rs1381835227 |
1409 | A>T | lung Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000533806 CA257813292 rs730880796 |
1413 | S>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000158645 CA014687 RCV001214464 COSM3495215 rs730880796 |
1413 | S>L | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201895208 CA014704 RCV000171840 VAR_045928 RCV002326942 |
1414 | L>M | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA041397 RCV001187429 rs753682085 |
1416 | K>E | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057524383 RCV000436927 CA16606529 RCV001170994 RCV001202590 RCV002328998 |
1417 | T>I | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516206 RCV000035896 RCV003298056 CA014711 RCV000700637 |
1419 | H>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002326727 RCV000770479 COSM3495214 rs397516207 RCV003317057 RCV000200190 RCV000035898 CA014728 |
1420 | R>Q | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000035897 VAR_042825 rs145213771 RCV000758078 RCV002504880 RCV001185537 RCV000148697 CA014718 RCV001703872 |
1420 | R>W | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000035899 RCV000790631 RCV000417392 RCV000758069 RCV000629028 VAR_042826 rs397516208 CA014743 RCV000589082 COSM245864 |
1426 | E>K | oesophagus Hypertrophic cardiomyopathy Primary dilated cardiomyopathy prostate Primary familial dilated cardiomyopathy CMD1S [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs727503244 RCV000208499 RCV000473362 RCV000151240 RCV000777946 RCV002505151 RCV001701529 RCV000618508 CA014765 |
1428 | L>S | Cardiomyopathy Restrictive cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892274161 RCV001266511 |
1429 | M>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892274161 RCV003320242 |
1429 | M>missing | Myosin storage myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000628930 rs1555336747 |
1430 | V>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA041540 rs776921449 RCV001242607 |
1431 | D>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs144200285 RCV000712357 RCV000798106 CA041577 RCV002506282 RCV001176835 RCV001293072 RCV002329246 |
1432 | V>I | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA014792 COSM954755 RCV000466942 RCV001180570 rs730880800 RCV000158653 |
1434 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs730880800 RCV001305598 |
1434 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003106148 CA041602 RCV001349014 rs780625785 RCV001190332 |
1434 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy Familial isolated arrhythmogenic right ventricular dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780625785 RCV001036718 |
1434 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001323393 rs1892272742 |
1436 | N>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1489767429 RCV001227427 COSM1748766 CA389040150 |
1436 | N>S | urinary_tract Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
CA014807 RCV000345240 RCV000384692 RCV001823718 RCV000390901 RCV000172044 rs745414245 RCV000313875 RCV003320133 RCV000201892 RCV000290332 RCV000777701 RCV002478549 |
1441 | A>S | Cardiomyopathy Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Sudden unexplained death Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001067157 rs1892272029 |
1441 | A>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814172 rs753484341 RCV000498742 CA041680 RCV002329186 RCV001178172 |
1448 | N>I | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA389040001 RCV000805875 RCV002290449 rs182311329 |
1449 | F>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000035903 RCV001241747 RCV000995146 CA014834 RCV001170993 RCV002326730 rs397516211 RCV001841564 |
1450 | D>N | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001807650 rs1246272841 CA389038932 RCV000812647 |
1453 | L>P | Hypertrophic cardiomyopathy MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001329732 rs1892259980 |
1454 | A>D | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389038924 rs1358268382 COSM1369222 VAR_042827 RCV001185505 |
1454 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. large_intestine CMH1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV002327098 RCV001577895 RCV001854769 CA10581171 RCV001187347 rs876661373 RCV000223810 |
1455 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001304248 rs1555336697 RCV002327665 |
1457 | K>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs190577943 RCV000284242 CA10639967 |
1458 | Q>* | MYH7-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs772562745 RCV001302766 CA042082 |
1458 | Q>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000466190 RCV000035906 RCV000162336 RCV001270174 RCV000656145 RCV000177508 CA014901 RCV002504881 RCV003320077 RCV000148704 RCV001109803 RCV000758029 rs201307101 VAR_042828 CA389038810 RCV000247619 |
1459 | K>N | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Wolff-Parkinson-White pattern Hypertrophic cardiomyopathy 1 CMH1 and CMD1S [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001176717 rs1892258263 |
1462 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001367549 RCV001591371 rs890401818 CA257811806 RCV000609324 |
1463 | S>L | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001756014 RCV001179339 rs754829218 RCV000621056 CA042146 |
1464 | Q>* | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1033511138 COSM3793595 CA389038715 RCV001873577 RCV003132249 RCV001170992 |
1465 | S>L | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. urinary_tract Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000158865 rs397516214 RCV000035909 RCV000770478 RCV001223389 RCV002326731 RCV000989186 CA014936 |
1467 | L>V | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000689327 CA10581170 RCV000223760 RCV003314581 RCV001798726 RCV000241907 rs876657884 |
1468 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001753444 RCV000618766 RCV003105778 CA014953 RCV000035911 rs397516216 |
1471 | Q>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555336672 RCV000623045 RCV003133410 RCV001295931 |
1472 | K>missing | Hypertrophic cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515035 RCV000628837 RCV001181612 CA014962 VAR_042829 rs139646545 RCV002326903 RCV002484977 |
1475 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1176998293 RCV003235552 RCV001342097 CA389038543 |
1475 | R>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002533963 RCV000770477 rs1566525169 CA389038525 |
1476 | S>F | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001299322 rs1892255625 |
1477 | L>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000766459 RCV001188089 CA014980 RCV000035912 rs397516217 |
1479 | T>I | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389038452 rs1351661186 RCV000813630 RCV002332679 RCV002487778 |
1480 | E>D | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587779414 RCV000132747 CA014988 |
1481 | L>P | MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389038393 RCV000618124 rs1555336651 RCV000805383 |
1484 | L>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002551720 CA389038389 rs1595074765 RCV001005009 |
1484 | L>P | Hypertrophic cardiomyopathy MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566525134 RCV000770476 RCV002533962 CA389038379 |
1485 | K>R | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069708 rs766909770 |
1487 | A>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001577201 RCV002332674 rs766909770 COSM3987586 CA042330 RCV000813113 RCV001177444 |
1487 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002332665 rs1595074732 CA389038364 RCV000810878 |
1487 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA257811660 RCV001178760 rs948329167 RCV002271625 |
1488 | Y>C | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003130254 RCV001308544 rs1892253421 |
1489 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702835 rs1566525106 |
1490 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000035914 RCV000203136 RCV000172762 VAR_020819 RCV000331016 RCV000852699 rs3729823 RCV000712360 RCV000254102 CA015008 RCV000758034 |
1491 | S>C | Cardiomyopathy Restrictive cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1892252730 RCV001880156 RCV001268030 |
1492 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001170991 RCV001320219 CA015015 RCV003133154 RCV000156875 rs727505329 |
1494 | H>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000706210 rs1566525081 CA389038313 |
1495 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892252122 RCV001170990 |
1495 | L>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209343 RCV000035915 RCV002326732 CA015023 rs397516218 RCV000225735 |
1496 | E>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001249370 CA257811634 RCV001348776 RCV001799055 rs928227757 |
1497 | T>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000192201 rs121913647 CA015044 RCV000804244 VAR_022369 |
1500 | R>P | Hypertrophic cardiomyopathy MYH7-related skeletal myopathy MPD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000157364 CA015036 RCV000158660 rs121913647 RCV000252808 RCV001850186 RCV001727608 |
1500 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs45544633 RCV000770475 COSM469829 RCV000232679 RCV000786165 RCV000151238 RCV000617211 CA015030 RCV002498700 |
1500 | R>W | kidney Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1595074652 CA389038281 RCV000853177 |
1501 | E>* | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189828 rs1892250074 |
1504 | N>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000208339 rs869025482 CA351956 |
1504 | N>Y | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188366 CA015074 RCV003320078 RCV001112483 RCV000035918 RCV001035172 RCV001112484 RCV001112486 rs397516221 |
1509 | I>L | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Myosin storage myopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001053440 rs1219074705 CA389038205 |
1511 | D>N | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001044927 rs730880802 CA389038201 |
1511 | D>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000035919 rs397516222 RCV001371585 RCV001775551 RCV001804759 VAR_042830 CA015096 |
1513 | T>S | Cardiomyopathy Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA389038184 RCV001209867 RCV000770474 rs1351712658 RCV001528809 |
1514 | E>G | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001256693 rs1892239000 RCV001879960 |
1515 | Q>E | Conduction disorder of the heart Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223593 rs757809347 CA042867 |
1518 | S>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs763683589 RCV000462161 CA042899 |
1520 | G>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892238144 RCV001225353 |
1521 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892237828 RCV001177808 |
1523 | I>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000628904 RCV002477373 CA389038127 rs1555336580 |
1523 | I>V | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000618410 RCV001797112 CA042943 rs767148171 RCV001868134 |
1524 | H>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs767148171 CA277672 RCV001853226 RCV000201485 |
1524 | H>R | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1892237017 RCV001182363 |
1529 | V>F | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000628928 RCV002477076 RCV000758057 rs397516225 CA015132 RCV000244791 RCV000785049 COSM954752 RCV000035923 |
1530 | R>* | Variant assessed as Somatic; HIGH impact. MYH7-Related Disorders Cardiomyopathy endometrium Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA015142 RCV000823461 RCV002336356 RCV000158663 rs730880803 |
1530 | R>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001319269 rs1892235698 |
1537 | K>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001869325 RCV000984933 rs587779389 CA389038004 |
1541 | Q>L | Hypertrophic cardiomyopathy Autosomal dominant MYH7-related disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001857478 RCV000132749 rs587779389 CA015162 RCV003236783 |
1541 | Q>P | Hypertrophic cardiomyopathy MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186788 rs1892235051 |
1543 | A>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389037988 rs1595074238 RCV000806885 |
1544 | L>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001197369 rs1892234748 RCV001859191 |
1544 | L>P | Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515074 RCV000158664 rs730880804 CA015169 |
1548 | E>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs730880804 RCV002481873 RCV001039638 RCV001799031 |
1548 | E>V | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229769 rs1892208700 |
1549 | A>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207738 rs730880912 CA015196 RCV000158867 |
1550 | S>F | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555336492 RCV003129948 RCV000628914 CA389037936 |
1550 | S>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056980 CA043403 rs143471552 |
1552 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003303178 CA389037912 RCV000701678 rs142694139 RCV000774207 |
1554 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA015211 RCV000158665 RCV003228795 rs730880805 |
1555 | E>G | Myopathy, myosin storage, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692278 COSM3369935 RCV003150333 CA389037905 rs727505176 VAR_020820 |
1555 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy CMH1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000156658 rs727505176 RCV001306103 CA015206 |
1555 | E>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389037896 rs1566524217 RCV000687609 |
1556 | G>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892206760 RCV001322984 |
1557 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA257810745 rs200593263 RCV000702588 |
1558 | I>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV000158666 RCV002326904 RCV002492626 rs730880806 CA015224 RCV000766461 RCV000778009 RCV000628848 |
1560 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368722536 RCV001524408 CA043564 RCV000819917 |
1560 | R>W | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001188315 rs1566524159 CA389037867 |
1561 | A>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001184264 CA015233 rs376843222 RCV000526209 |
1563 | L>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1892204411 RCV003228801 RCV001066184 |
1567 | Q>* | Hypertrophic cardiomyopathy Myopathy, myosin storage, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003293938 rs1892204171 RCV001182386 |
1568 | I>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1515105 COSM6140188 RCV000628917 RCV002336357 RCV001185243 CA015247 RCV000158668 rs730880807 |
1570 | A>E | lung Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs750987717 RCV000454653 CA043695 VAR_073884 RCV003165509 RCV000811692 RCV000208040 RCV000995144 RCV001183228 |
1573 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy CMD1S; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000217985 RCV002338683 RCV000805571 CA043706 RCV003137810 RCV001179801 rs779715863 |
1574 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892202753 RCV001196706 |
1577 | A>T | Congenital myopathy with fiber type disproportion [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339280 rs1892202458 RCV001055895 COSM416235 |
1581 | E>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
rs1892202130 RCV001183107 |
1582 | E>D | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555336467 RCV000536229 |
1582 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892201771 RCV001181701 |
1583 | M>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000618173 RCV001868100 CA389037719 rs1466998230 |
1583 | M>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1892201286 RCV001191765 |
1586 | A>G | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002487807 RCV000845472 RCV000817363 CA389037697 rs1595073523 |
1586 | A>T | Conduction disorder of the heart Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001213343 CA389037681 RCV001797828 RCV001806051 COSM954750 rs1194197356 |
1588 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA389037680 RCV001044438 rs797044600 RCV001525767 RCV002339223 COSM954749 |
1588 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV003133156 RCV000778015 RCV000619034 COSM6075527 RCV002498788 CA015292 COSM552675 RCV001211825 rs730880808 |
1591 | L>Q | lung Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1257980330 RCV002477636 RCV001186493 RCV001701153 RCV000707612 CA389037657 |
1592 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA389037658 rs1468958169 COSM954748 RCV001185671 RCV001508722 RCV002559913 |
1592 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000628859 CA389037643 rs1555336453 |
1595 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327438 rs774540446 RCV002466627 RCV001182154 RCV002068308 CA043848 |
1596 | S>L | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA015308 RCV000132750 rs587779390 |
1599 | T>P | MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730880809 CA347265 RCV000551132 |
1603 | A>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002484978 CA015331 RCV000158670 RCV001850221 rs730880809 RCV001183734 RCV000620277 |
1603 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1892198053 RCV001293117 |
1603 | A>V | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001112386 RCV000154606 RCV001112385 RCV001184477 RCV002336317 RCV001112388 rs200530211 RCV000470391 RCV003320111 CA015344 RCV000172042 |
1606 | R>C | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Myosin storage myopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM954747 CA015352 RCV000475488 RCV000619414 RCV000035933 RCV000766463 RCV000769443 RCV000201450 RCV000627158 RCV000852453 rs373514686 |
1606 | R>H | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy endometrium Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs373514686 RCV001040784 |
1606 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002480637 RCV001191466 rs1892196940 |
1607 | S>G | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293065 RCV001525309 RCV000687985 rs746571601 COSM1128286 CA043961 |
1608 | R>C | kidney Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Primary dilated cardiomyopathy prostate [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA015359 rs587779391 RCV000132751 |
1608 | R>P | MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003320155 rs730880810 CA10645050 RCV000404092 RCV003129830 RCV000336900 RCV001094164 RCV000281905 RCV000297103 |
1610 | E>K | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001057246 rs730880810 RCV000158673 RCV003298183 RCV003149964 CA015373 |
1610 | E>Q | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA015382 RCV000158868 RCV002492629 RCV001366342 RCV001181614 rs730880913 |
1611 | A>S | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA044022 RCV001187402 COSM954745 RCV001555883 RCV001256697 rs757090529 RCV000220338 RCV000795542 |
1611 | A>V | Cardiomyopathy endometrium Hypertrophic cardiomyopathy Dilated cardiomyopathy 1A [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779392 RCV000459843 RCV002515923 CA015395 RCV000132752 |
1612 | L>P | Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015389 rs397516229 RCV002477077 RCV000035934 |
1612 | L>V | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000456855 rs397516230 RCV000035935 RCV000767039 CA015403 |
1613 | R>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614393 RCV000468415 rs1060501446 |
1615 | K>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913648 RCV000192202 RCV000526457 RCV000599460 RCV001814087 |
1617 | K>missing | Hypertrophic cardiomyopathy MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_042832 | 1617 | K>del | MPD1 [UniProt] | Yes | UniProt |
|
RCV000158674 RCV000473596 CA015416 rs45442096 |
1619 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000035936 RCV001039843 CA015424 RCV000620735 RCV001185538 rs397516231 RCV000766464 |
1622 | L>F | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA389037470 RCV000629007 rs1306407579 RCV001796145 RCV001179128 |
1623 | N>S | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA207077 RCV000193528 rs797045730 |
1629 | L>P | Myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186476 RCV002491549 RCV001267836 CA044125 RCV003117820 rs565663412 RCV002339472 COSM2031753 RCV001862934 |
1632 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs762272480 CA044154 RCV001058079 |
1633 | N>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000035937 VAR_042833 RCV002336118 RCV000767017 CA015436 RCV000628891 rs397516232 COSM4050061 |
1634 | R>C | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy CMD1S; unknown pathological significance [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001178631 RCV001788068 RCV001329733 RCV002503822 RCV000208188 rs545875689 CA077498 RCV002336579 RCV000628959 |
1634 | R>H | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000158676 RCV001804876 RCV002336358 CA015442 rs145822086 RCV000541040 RCV002484979 |
1635 | M>T | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587779415 CA015450 RCV000132761 |
1636 | A>P | MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555336406 RCV000555896 CA389037378 RCV001525574 |
1636 | A>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629002 rs141122361 CA389037377 RCV003133416 |
1637 | A>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000620929 RCV000758026 RCV000148696 CA015454 RCV000035938 RCV000853439 RCV000989185 RCV001703873 rs141122361 RCV000465008 RCV002227441 |
1637 | A>T | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 Ventricular fibrillation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001204564 CA389037370 RCV001189054 rs1238699518 |
1638 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001508721 RCV001185802 rs864309553 RCV000202758 CA248944 |
1639 | A>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347665 RCV000497471 RCV001183002 CA389037360 RCV002481582 rs1195157116 |
1639 | A>V | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs756827282 RCV001180138 |
1640 | Q>P | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791864 RCV001759490 RCV001183376 rs1595073192 CA389037316 TCGA novel |
1645 | S>R | Variant assessed as Somatic; MODERATE impact. Cardiomyopathy Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar Ensembl dbSNP |
|
CA015466 rs587779393 RCV001348438 RCV003320105 RCV000132754 |
1646 | L>P | Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001342534 CA044255 rs749154313 RCV001048683 |
1647 | Q>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
rs1892187995 RCV001180488 |
1651 | K>N | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000769441 RCV000035941 RCV000694818 RCV000766465 RCV000584779 RCV002490490 CA015501 RCV003298058 rs397516233 |
1652 | D>Y | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892178080 RCV001055107 |
1654 | Q>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001192289 rs1892177990 |
1655 | I>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054517 rs1555336334 |
1656 | Q>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389037233 RCV000525541 rs1555336334 |
1656 | Q>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001871781 CA389037217 rs1214910821 |
1658 | D>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs267603953 RCV001347127 CA044566 |
1659 | D>N | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1006534868 CA257810052 RCV002490901 RCV000521554 RCV000688117 |
1660 | A>E | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003320243 rs1892176969 |
1660 | A>P | Myosin storage myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003130127 CA044615 rs773977507 RCV001052917 RCV002339267 |
1662 | R>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001184540 RCV000148703 CA015524 RCV001719728 RCV000035943 RCV001050756 rs370328209 |
1662 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000468219 RCV001185798 RCV002339146 rs370328209 CA16614388 |
1662 | R>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA015530 RCV001795252 RCV000132755 rs370328209 |
1662 | R>P | MYH7-Related Disorders MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001179421 rs1892175888 RCV003117809 |
1663 | A>D | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797044601 VAR_022370 CA347268 |
1663 | A>P | MPD1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000554994 RCV000201468 RCV003133174 CA044638 rs763538103 RCV000777755 |
1664 | N>K | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA044655 RCV001050436 rs769528619 |
1665 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001238173 CA389037169 rs1423850061 |
1666 | D>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA044679 RCV003307421 rs747993770 COSM3495206 RCV001188656 RCV000791531 RCV001729704 |
1666 | D>N | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000822368 RCV001805133 CA257809989 rs45620235 RCV000523716 RCV002341217 |
1669 | E>* | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000819391 RCV003133146 rs587779394 RCV000132756 |
1669 | E>missing | Hypertrophic cardiomyopathy MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA044755 RCV001338746 rs779978846 RCV002350615 |
1671 | I>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002343575 RCV001186494 CA389037138 rs1456418703 RCV001766567 RCV000707479 |
1671 | I>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs550015662 RCV002336700 RCV001187948 CA044783 RCV000819672 |
1672 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs753907340 RCV003150657 CA015565 |
1673 | I>F | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000035946 CA015575 RCV000628865 RCV001185539 rs397516235 |
1674 | V>M | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000542901 CA389037108 rs1451176863 RCV000658395 |
1676 | R>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002480129 RCV001223055 RCV003320153 RCV002338895 RCV000259550 CA044958 rs753115999 COSM1258461 RCV001177405 RCV000361426 RCV000317103 RCV000374287 |
1676 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. oesophagus Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000687792 RCV000158681 CA015584 RCV002336359 RCV001290657 rs377461670 RCV001176076 |
1677 | R>C | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM245863 rs730880914 CA015595 RCV002498790 RCV002336365 RCV001176078 RCV000158869 RCV000799550 RCV001293063 |
1677 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy prostate Hypertrophic cardiomyopathy 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001315160 CA045048 rs752021154 |
1678 | N>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001062605 rs1358888752 CA389037090 |
1679 | N>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
COSM183305 RCV001185248 RCV001721011 CA015628 rs730880915 RCV002478480 RCV000693933 |
1689 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. large_intestine Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002483712 RCV001186063 rs772008016 RCV001775923 CA045191 RCV000628878 RCV000620900 |
1689 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002347814 COSM1369217 RCV000769438 CA045220 RCV001722137 RCV000208343 rs45464193 RCV000531386 |
1691 | V>M | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. large_intestine Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001876103 rs1892169334 RCV002307693 RCV001183534 |
1692 | V>E | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001186824 CA045235 rs748373063 RCV002559952 |
1692 | V>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_019870 | 1692 | V>M | CMH1; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1595072676 RCV000811989 |
1696 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs373219734 RCV000628860 CA045277 RCV000213375 RCV001523969 RCV002517567 |
1696 | E>D | Cardiomyopathy Hypertrophic cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV003320238 RCV001113643 RCV001113644 rs1892168471 RCV001113642 |
1696 | E>G | Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002298926 rs766831916 CA045288 RCV001303763 |
1697 | R>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA015666 RCV000151236 RCV000984901 rs146778113 RCV001229490 |
1699 | R>Q | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA389036959 RCV000812714 rs1595072643 |
1701 | L>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001184169 rs750013359 |
1702 | A>G | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892166698 RCV001045761 COSM954741 |
1704 | Q>R | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
rs878853838 RCV000233217 |
1705 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054928 rs1892166399 |
1705 | E>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA347270 VAR_022371 rs797044602 |
1706 | L>P | MPD1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001177387 rs763791649 CA045358 |
1707 | I>F | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000158683 rs730880811 RCV002336360 CA015711 RCV001186243 |
1707 | I>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000414763 rs1057518857 CA16043481 |
1708 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs869279274 RCV002339459 CA389036905 RCV001183104 RCV001221243 |
1710 | S>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA015727 RCV000199234 RCV000223711 RCV000030320 rs193922390 RCV000586653 RCV001251032 RCV002504832 RCV000995812 RCV001170487 |
1712 | R>Q | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4050058 VAR_042834 RCV000015175 RCV000546277 rs121913650 RCV003151728 RCV000480992 RCV002345244 RCV003319168 CA015719 |
1712 | R>W | Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 CMH1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs1892164860 RCV001170486 |
1713 | V>M | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892164451 RCV001179966 |
1717 | H>Y | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000154582 CA015743 RCV001850116 rs727504403 |
1719 | Q>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000769437 CA389036834 rs1566523039 |
1720 | N>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566523027 RCV000685842 CA389036811 |
1723 | L>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892155939 RCV001214182 |
1727 | K>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1357222680 RCV001184420 CA389036772 |
1728 | K>R | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000035952 RCV002336112 rs367543052 RCV000628918 RCV001524490 RCV000034922 |
1729 | K>missing | Cardiomyopathy Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000132757 rs367543052 |
1729 | K>missing | MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_042835 | 1729 | K>del | MPD1 [UniProt] | Yes | UniProt |
|
RCV000754866 CA389036755 CA389036754 rs1566522989 RCV000769434 |
1730 | M>I | Atrial fibrillation Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001314590 rs867004523 RCV001176414 CA257809505 |
1730 | M>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002338684 RCV000218383 RCV002517568 CA10576952 COSM3495204 rs876657885 |
1731 | D>N | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000035953 CA015761 rs397516240 RCV002482969 |
1731 | D>V | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015770 rs144066768 RCV001176077 RCV000819479 RCV002484980 RCV000158685 |
1735 | S>T | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA015781 rs730880812 RCV000700747 |
1736 | Q>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001094156 rs886050416 RCV003320152 RCV000293014 CA10645045 RCV000306397 RCV000390943 RCV000375663 |
1736 | Q>H | Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA389036301 rs1469341108 RCV001215558 |
1739 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs531250955 CA045725 RCV000793065 |
1741 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001204454 rs1255832799 CA389036281 |
1741 | V>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA015789 RCV002336361 RCV001525553 RCV000158687 RCV002492627 rs149509691 RCV000801865 |
1743 | E>D | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1892152784 RCV001058090 RCV002339289 |
1743 | E>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240043 CA045772 rs767027931 |
1745 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000628926 CA015800 RCV000157365 RCV003320115 RCV000158688 RCV001112300 RCV001111831 RCV002336346 RCV003320116 rs200303340 RCV001112301 RCV001183749 |
1748 | C>Y | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Myosin storage myopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs562465062 RCV000799648 CA389036194 RCV002334509 |
1749 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1892151210 RCV002346237 RCV001034734 RCV001805977 |
1751 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002336362 rs730880813 CA015818 RCV000545366 |
1752 | E>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_072816 rs730880916 RCV001384951 RCV000158871 CA015809 |
1752 | E>K | Hypertrophic cardiomyopathy CMH1; associated with phenotype variability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_042836 rs545585809 CA045838 |
1753 | E>K | CMH1 [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000158690 CA015826 RCV000803340 rs730880814 |
1755 | A>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566522846 RCV000690307 |
1756 | K>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061671 rs1566522846 RCV001585961 |
1756 | K>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001185555 CA10583167 RCV000226909 rs878853839 |
1758 | A>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000691405 rs878853839 CA389036080 |
1758 | A>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA389036055 RCV000824397 rs727505294 RCV001766757 |
1760 | T>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000578016 CA015835 RCV000578035 rs727505294 RCV000156827 RCV003320114 RCV000767089 RCV000702422 RCV000577959 RCV000578095 |
1760 | T>M | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Myosin storage myopathy MYH7-related skeletal myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001178528 rs1892149011 |
1761 | D>E | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000724585 COSM954739 RCV000208237 RCV003320110 RCV000464078 RCV000578112 RCV000154483 rs727504355 RCV002483337 RCV000577993 RCV000172890 RCV002345494 RCV000578027 CA015861 RCV000769433 |
1763 | A>T | kidney Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Myopathy, myosin storage, autosomal recessive Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001189594 rs1284464290 |
1764 | M>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595072009 TCGA novel RCV000824314 CA389035935 |
1765 | M>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001228337 CA046139 rs770165807 |
1765 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001526036 CA015871 rs267606909 RCV000015189 |
1766 | A>T | Left ventricular noncompaction 5 Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000467506 VAR_042837 CA015893 RCV000035954 RCV000766469 rs397516241 |
1768 | E>K | Hypertrophic cardiomyopathy CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000148702 RCV002483291 RCV001040988 RCV000223890 RCV001182017 rs139222507 CA015902 |
1769 | L>M | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001243290 rs1892140874 |
1769 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA015939 RCV001857569 rs730880815 RCV000158693 |
1773 | Q>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000514376 RCV000154209 RCV001170485 RCV000765157 RCV002265629 RCV000620185 rs369437262 CA015944 RCV000168915 RCV000462813 VAR_020821 |
1776 | S>G | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_073885 | 1776 | S>T | LVNC5 [UniProt] | Yes | UniProt |
|
RCV000171839 CA015952 RCV001111830 RCV002498736 RCV000154298 rs200939753 RCV000186557 RCV000620826 RCV001183990 RCV000465931 RCV003133153 VAR_019871 |
1777 | A>T | Idiopathic camptocormia Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1892139406 RCV001198977 |
1778 | H>P | Congenital myopathy with fiber type disproportion [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513364 CA015967 rs397516244 RCV000035957 RCV001311853 |
1778 | H>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471209 RCV000766754 RCV000035958 RCV001170484 RCV002345279 CA015976 rs397516245 |
1781 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002345280 RCV001550459 RCV000234735 RCV001175854 RCV000035959 CA015985 rs397516246 COSM432901 RCV002477078 |
1781 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy breast Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1566522632 RCV000699949 CA389035769 |
1782 | M>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000786171 RCV000168424 CA015994 rs727504385 RCV002345495 RCV000154544 |
1782 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000158896 rs730880935 RCV001045070 |
1784 | K>missing | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000015183 RCV000015182 VAR_073886 RCV001207190 RCV000158696 rs121913654 RCV003320035 CA016023 |
1793 | L>P | Left ventricular noncompaction 5 Hypertrophic cardiomyopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 CMYP7A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000192203 rs587779396 RCV000132758 |
1793 | L>missing | Dilated cardiomyopathy 1S MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000471537 RCV000035962 CA016040 rs397516247 RCV000770470 RCV000158697 |
1794 | Q>E | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000035961 CA016031 rs397516247 RCV000488979 |
1794 | Q>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002500994 CA046625 RCV000770469 RCV002223930 rs748598020 RCV002343620 RCV001348931 |
1796 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003133202 rs1114167322 CA389035644 RCV000490840 |
1797 | L>P | Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016046 RCV000158698 RCV002345538 rs730880816 RCV003155094 RCV001797641 RCV001170483 RCV001267834 COSM5441572 RCV000818295 |
1799 | E>K | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001350475 rs1892135022 |
1801 | E>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000132759 RCV000699484 rs397516248 RCV000158700 RCV000487436 CA016087 RCV003320085 RCV000207999 RCV000211834 |
1801 | E>K | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Primary dilated cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Left ventricular noncompaction cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001056929 rs1892134813 RCV001526116 |
1803 | I>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA257809024 rs970169331 RCV000628986 RCV002343190 |
1804 | A>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA016102 COSM306005 rs730880818 RCV002345539 RCV000158701 RCV002515075 |
1804 | A>T | Hypertrophic cardiomyopathy haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1892134324 RCV001293163 |
1805 | L>I | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389035508 RCV000628896 rs1555336161 |
1806 | K>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA046762 RCV001762425 RCV000456307 RCV002345719 rs369940645 COSM4878312 RCV003323452 RCV001181802 RCV002485326 RCV000201453 |
1808 | G>S | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA389035424 RCV000813057 rs1595071738 |
1811 | Q>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892132855 RCV001227045 |
1814 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389035340 rs1469786429 RCV003150258 RCV000550416 RCV000521167 |
1817 | A>V | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs730880819 RCV000813902 CA016119 RCV000158702 |
1818 | R>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002478719 COSM2031733 RCV000484117 RCV000223714 CA046814 rs763073072 RCV000804452 RCV002345720 |
1818 | R>W | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs145734640 RCV002507200 CA046829 RCV000690568 |
1820 | R>G | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM697427 rs371855540 RCV001176567 RCV000487258 RCV000766386 CA046848 RCV002481505 RCV001232041 |
1820 | R>Q | lung Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_073887 RCV000172878 RCV002345540 RCV002484981 CA016126 rs145734640 RCV003320122 RCV000685507 RCV000158703 |
1820 | R>W | Hypertrophic cardiomyopathy Myosin storage myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 CMYP7B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA046860 rs777147645 RCV001338015 |
1823 | E>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001524276 CA16609761 rs1060499881 RCV000454625 RCV001558312 |
1824 | N>C | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002345829 rs1595071680 CA913188616 RCV002487750 RCV001824379 RCV001182272 RCV000809757 |
1824 | N>G | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216157 rs760218400 RCV002287414 RCV000497639 RCV002350096 RCV001192187 RCV001528901 CA046887 |
1824 | N>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000815943 CA389035226 rs1353101205 CA389035228 |
1825 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV000371330 RCV000788312 RCV000269554 RCV003320150 RCV000314298 CA10639965 RCV000273222 RCV000365508 rs886050415 |
1828 | A>T | Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001177578 RCV000478825 CA016134 rs201865159 RCV002345457 RCV000466702 RCV000148701 RCV002492544 |
1832 | R>C | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001202688 CA016140 rs730880820 RCV003298184 RCV000158704 RCV001182256 |
1832 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA047025 RCV000419584 RCV001191140 rs143362532 RCV002522475 |
1834 | A>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA016152 RCV000035968 rs143362532 RCV000172041 RCV002345282 RCV001115179 RCV001109553 RCV000770468 RCV000560402 RCV000627131 RCV003320087 |
1834 | A>T | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000534298 rs750622554 CA389035111 |
1835 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA047034 RCV001324851 rs758436258 RCV001329734 |
1835 | E>Q | Hypertrophic cardiomyopathy Myopathy, myosin storage, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1892127650 RCV001180520 |
1836 | S>A | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001115178 RCV000459205 CA016175 RCV003320106 RCV000151235 RCV001177616 rs727503242 RCV001115177 RCV000786172 RCV002345470 |
1836 | S>L | Cardiomyopathy Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1566522362 RCV000689053 CA389035086 |
1839 | G>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs149193520 CA047097 RCV001187338 RCV000549508 RCV000766470 RCV000214382 RCV002347849 |
1840 | M>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001184504 rs200157204 RCV000172039 CA016188 RCV000694596 |
1843 | S>G | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555336129 CA389035060 RCV000527904 |
1843 | S>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3690037 RCV002505189 rs730880821 RCV002345541 RCV000469554 RCV001618315 RCV000158706 CA016196 |
1844 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000158707 RCV001179788 RCV003298185 COSM3495202 RCV000686508 rs730880822 CA016210 |
1845 | R>Q | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
VAR_017754 rs28933098 RCV001200588 CA016203 RCV000628936 RCV001178343 RCV003320033 COSM5635861 |
1845 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Myosin storage myopathy CMYP7A [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001185061 rs12590294 RCV000148700 CA016216 RCV001048116 |
1846 | R>C | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001185121 rs12590294 CA257808736 |
1846 | R>G | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs757803046 RCV000413314 RCV002348129 RCV000770467 CA047162 RCV000695505 |
1846 | R>H | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs770583523 RCV001349672 |
1847 | I>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016224 RCV000821040 rs730880823 RCV000158708 |
1852 | Y>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016271 RCV000158710 COSM552681 rs372381770 RCV000154324 RCV001170482 RCV000457760 VAR_042838 RCV002345456 RCV000148695 |
1854 | T>M | lung Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy stomach CMH1 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV000192204 CA347253 rs797044598 |
1856 | E>K | MYH7-related skeletal myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA016295 RCV000035971 RCV002490491 rs45520836 RCV000758051 RCV000690579 RCV000766472 RCV000770466 RCV002345283 |
1863 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA047563 COSM954737 RCV003132252 RCV001875781 RCV001175712 rs376668612 RCV002505758 |
1863 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. endometrium Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000813403 rs1595070747 CA389034908 |
1865 | Q>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs560939959 RCV001309046 |
1868 | V>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000329194 RCV003320123 RCV000379698 RCV002345542 RCV002484982 RCV000168920 RCV001094234 RCV001179303 RCV000376895 CA016304 rs730880824 RCV000290558 |
1869 | D>G | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Myosin storage myopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000845430 CA389034858 RCV001061359 rs1356446816 |
1872 | Q>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000242641 RCV002518680 CA10587764 rs886038830 |
1875 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16607607 RCV000436520 RCV000525762 RCV002348206 RCV002488941 rs1057522617 |
1880 | R>C | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001526109 RCV003222061 RCV002531863 CA389034808 RCV000619948 rs1057522617 |
1880 | R>G | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs867477685 RCV001177854 RCV001875862 CA257807907 |
1880 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002559683 RCV001175724 rs1892080773 |
1881 | Q>* | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121913652 RCV000015178 RCV000766473 CA016328 RCV002482868 RCV001068554 VAR_042839 RCV000156689 |
1883 | E>K | Hypertrophic cardiomyopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 CMH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1892080169 COSM4912249 RCV001304015 |
1885 | A>V | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV001751338 RCV003293959 RCV001187874 RCV002560914 RCV002491558 rs1295948508 CA389034721 |
1891 | T>A | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1892072183 RCV001326003 |
1894 | S>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA389034686 rs778562229 RCV001176108 RCV001875797 |
1896 | F>C | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001178901 RCV002348607 CA047983 RCV001345235 rs756655803 |
1897 | R>C | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002345469 rs727503240 RCV001526079 RCV000477566 RCV000158713 RCV000151233 RCV001254747 CA016369 |
1897 | R>H | Cardiomyopathy Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs121913649 VAR_042840 RCV003320034 CA016379 |
1901 | H>L | Myosin storage myopathy CMYP7A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000588050 RCV002345543 RCV001229154 CA016392 rs187073962 |
1902 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000325552 RCV000035977 RCV003320088 RCV000263236 RCV001311852 RCV001094151 RCV000758073 RCV000369831 RCV000331432 rs187073962 RCV000242151 CA016398 |
1902 | E>Q | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myosin storage myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000035978 rs397516252 CA016404 |
1906 | A>G | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058339 rs1892070240 |
1908 | E>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344339 RCV002350632 rs146796870 |
1909 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397516253 RCV000035980 CA016422 |
1909 | R>P | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA016417 RCV000339405 rs397516253 RCV001094076 RCV000291022 RCV000158715 RCV003320124 RCV001179836 RCV000388944 RCV000344866 |
1909 | R>Q | Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Myosin storage myopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1369214 RCV001039532 RCV001557214 CA048061 RCV001111750 RCV001170481 RCV003320225 RCV001111751 RCV001111752 rs146796870 |
1909 | R>W | Cardiomyopathy large_intestine Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA389034598 RCV000628943 rs1454105335 COSM3401245 |
1910 | A>V | Variant assessed as Somatic; MODERATE impact. central_nervous_system Hypertrophic cardiomyopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1396486231 RCV002348726 RCV001799051 RCV001217522 |
1912 | I>F | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000850348 CA389034586 rs1595070419 RCV000995141 |
1912 | I>N | Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692963 RCV002485659 RCV002343470 RCV001567885 CA048119 rs747451109 |
1913 | A>T | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397516254 RCV001208410 |
1914 | E>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002510774 CA016441 rs397516254 RCV000192205 RCV001329735 RCV003149624 RCV002513365 RCV000132760 RCV000035983 |
1914 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs869025483 RCV000208262 |
1914 | E>V | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555335933 RCV000626635 CA389034562 |
1916 | Q>* | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516255 RCV001185540 RCV000242074 RCV000035984 RCV001723609 RCV001369160 CA016449 |
1917 | V>F | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs138110910 VAR_073888 RCV000056317 |
1918 | N>K | Left ventricular noncompaction 5 CMD1S [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV002510931 VAR_042841 RCV000620963 RCV001327837 RCV003150309 CA389034537 rs1343372308 |
1919 | K>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs539290591 RCV000457339 CA16614381 |
1921 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10576950 rs397516256 RCV000218106 RCV000684861 |
1921 | R>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000035985 rs397516256 RCV000619475 RCV001804760 CA016464 RCV000456646 |
1921 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA016457 RCV002354390 RCV000158717 RCV001181613 RCV000704962 rs539290591 |
1921 | R>W | Cardiomyopathy Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001525628 rs777524474 CA048194 RCV001211305 |
1922 | A>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000853148 rs1595070373 RCV001508720 CA389034524 |
1923 | K>E | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892066954 RCV001562468 RCV001233604 RCV001293219 RCV001265622 |
1924 | S>missing | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016469 rs786204385 RCV001170480 |
1924 | S>I | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755706526 CA048205 RCV003169611 RCV001340105 |
1925 | R>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs752553589 RCV002356669 RCV000765156 RCV000464373 CA048213 |
1925 | R>H | Variant assessed as Somatic; MODERATE impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000656224 RCV001068143 RCV000623784 RCV001566832 rs767300277 RCV002358637 RCV001181572 CA048224 |
1927 | I>F | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000477627 RCV000777941 RCV000168923 RCV000208216 VAR_042842 RCV000620357 CA016477 rs730880918 |
1929 | T>M | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy CMH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000158718 RCV001850222 CA016492 RCV001804877 rs730880825 |
1934 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA016499 RCV000707184 RCV000034923 rs367543053 RCV003320038 |
1936 | E>W | Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy Myosin storage myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| COSM4553757 | 2 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA257826989 rs3729993 VAR_029430 |
3 | D>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1416852795 CA389054236 |
4 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595091581 CA389054190 |
7 | A>G | No |
ClinGen Ensembl |
|
|
CA032191 rs754388460 |
8 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 10 | G>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766301164 CA041167 |
14 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA389054114 COSM6140175 COSM1515090 rs1410564846 |
15 | Y>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
| TCGA novel | 15 | Y>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762822176 CA047007 |
18 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478491841 CA389054076 |
19 | S>* | No |
ClinGen TOPMed |
|
|
rs1169518192 CA389054029 |
23 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389054021 rs1085307708 RCV000489352 |
24 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs747976769 CA049036 |
25 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA257826921 rs1016438334 |
30 | P>T | No |
ClinGen TOPMed |
|
|
rs757655773 CA049702 |
31 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000158724 CA010506 rs730880829 |
44 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751307476 CA028303 |
46 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA389053768 rs1595091435 |
47 | V>A | No |
ClinGen Ensembl |
|
|
CA028966 rs761841748 |
54 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895593295 CA257826874 |
57 | G>D | No |
ClinGen TOPMed |
|
|
rs771132107 CA029331 |
59 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs2069540 RCV000154237 |
63 | T>= | No |
ClinVar dbSNP |
|
| COSM4050077 | 67 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389053497 rs1376905623 |
71 | V>A | No |
ClinGen gnomAD |
|
|
CA389053469 rs1595091126 |
74 | D>N | No |
ClinGen Ensembl |
|
|
rs749687044 CA257826740 |
75 | Q>R | No |
ClinGen Ensembl |
|
|
CA389053442 TCGA novel rs1595091109 |
76 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA389053434 rs1380485301 |
77 | M>T | No |
ClinGen TOPMed |
|
|
CA389053438 rs1361122150 |
77 | M>V | No |
ClinGen TOPMed |
|
| COSM1493256 | 78 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000617460 rs200493975 CA389053390 |
80 | N>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 82 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4919431 | 84 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6140176 | 86 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 89 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769054108 CA034054 |
90 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1283092105 CA389053273 |
91 | A>V | No |
ClinGen gnomAD |
|
|
rs1035408760 CA257826722 |
95 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 97 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389053204 rs1440846436 |
98 | E>Q | No |
ClinGen gnomAD |
|
|
CA013219 rs727503279 RCV000151315 |
98 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM4914897 | 99 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389053194 rs1485804763 |
99 | P>T | No |
ClinGen TOPMed |
|
|
COSM698141 CA035151 rs730880154 |
100 | A>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| COSM3495254 | 104 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2754166 CA257826712 VAR_017745 |
107 | D>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1415405257 CA389053079 |
109 | Y>H | No |
ClinGen gnomAD |
|
|
rs763893822 CA389053066 |
110 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA036654 rs763893822 |
110 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000158500 CA013553 rs730880728 |
110 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM6140177 | 111 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA037126 rs756051540 |
112 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA389053048 rs1431719401 |
112 | W>* | No |
ClinGen gnomAD |
|
|
rs1595091009 CA389053052 |
112 | W>R | No |
ClinGen Ensembl |
|
|
COSM232838 rs867183634 CA257826705 CA257826703 |
113 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs752592463 CA037218 |
114 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA389053028 rs149439730 |
115 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1595090715 CA389053016 |
116 | T>P | No |
ClinGen Ensembl |
|
|
rs777462283 CA389052979 RCV000995160 |
121 | F>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1595090688 CA389052961 |
124 | T>P | No |
ClinGen Ensembl |
|
|
CA014028 RCV000158729 rs730880729 |
125 | V>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389052949 rs1595090674 |
126 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 131 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566538149 CA389052913 |
131 | L>V | No |
ClinGen Ensembl |
|
|
rs1284145106 CA389052908 |
132 | P>A | No |
ClinGen gnomAD |
|
| COSM954786 | 132 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1595090652 CA389052899 |
133 | V>G | No |
ClinGen Ensembl |
|
|
CA389052902 rs199637885 |
133 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199637885 CA039833 |
133 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1464240610 CA389052878 |
137 | E>K | No |
ClinGen TOPMed |
|
|
rs1595090624 CA389052865 |
138 | V>G | No |
ClinGen Ensembl |
|
|
rs730880835 CA014914 |
146 | K>M | No |
ClinGen Ensembl |
|
|
rs730880835 CA014910 |
146 | K>T | No |
ClinGen Ensembl |
|
|
CA042238 rs730880836 |
148 | S>G | No |
ClinGen ExAC gnomAD |
|
| COSM3885914 | 148 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs730880836 CA014971 RCV000158734 |
148 | S>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs747935479 CA043424 |
155 | F>L | No |
ClinGen ExAC |
|
|
rs1441500473 CA389052760 |
156 | S>F | No |
ClinGen gnomAD |
|
|
CA043930 rs552302426 |
161 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000512843 CA389052726 rs1555338763 |
161 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 166 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA044722 rs754047820 |
167 | T>R | No |
ClinGen ExAC |
|
| TCGA novel | 170 | E>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs730880841 CA015658 |
170 | E>K | No |
ClinGen Ensembl |
|
| COSM3495253 | 173 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389052633 rs1555338750 RCV000620640 |
174 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM954784 | 175 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200035152 | 177 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 179 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445208076 CA389052596 |
179 | E>Q | No |
ClinGen TOPMed |
|
|
CA257826081 rs796182815 |
185 | T>S | No |
ClinGen Ensembl |
|
|
rs770034910 CA047931 |
189 | K>Q | No |
ClinGen ExAC |
|
|
CA389052497 rs1472887126 |
193 | Q>R | No |
ClinGen Ensembl |
|
|
CA048464 rs748234907 |
197 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1892956157 RCV001093025 |
200 | A>V | No |
ClinVar dbSNP |
|
|
rs747136781 CA048494 |
201 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs397516258 CA389052446 |
201 | I>N | No |
ClinGen Ensembl |
|
|
CA016534 RCV000035989 rs397516259 |
204 | R>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA389052402 rs1454914644 |
208 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10577514 RCV000213114 rs876661175 |
212 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389052351 rs1228456615 |
214 | G>D | No |
ClinGen Ensembl |
|
|
CA048696 rs780105133 |
214 | G>S | No |
ClinGen ExAC gnomAD |
|
| COSM3495252 | 217 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA016603 RCV000158754 rs730880847 |
217 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000788458 rs1595089520 CA389052328 |
218 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389052303 COSM383130 rs1060501445 |
222 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
RCV000156616 rs727505148 CA016618 |
224 | N>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 225 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389052246 rs1380372471 RCV001193367 |
231 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000158755 rs730880848 CA016631 |
233 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001193368 rs1892944195 |
235 | T>N | No |
ClinVar dbSNP |
|
| COSM698143 | 238 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10581181 RCV000223777 rs876661376 |
239 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000615531 CA016686 RCV000158880 rs730880921 |
242 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA257825944 rs113884995 |
242 | S>P | No |
ClinGen Ensembl |
|
|
rs2069542 CA389052169 |
244 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA257825860 rs868246768 |
245 | G>K | No |
ClinGen Ensembl |
|
| COSM4932561 | 245 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389052149 rs730880851 |
246 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1411204822 CA389052152 |
246 | K>Q | No |
ClinGen Ensembl |
|
|
RCV000151307 rs727503275 CA016758 |
248 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397516268 CA016788 RCV000036001 |
250 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA049044 rs775551367 |
251 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs876661377 CA10581180 RCV003320617 RCV000223695 |
258 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM954782 | 260 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 263 | I>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 269 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4902329 | 269 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1258379418 CA389051997 |
270 | K>R | No |
ClinGen Ensembl |
|
|
CA389051956 rs1415025206 |
276 | Q>R | No |
ClinGen gnomAD |
|
|
rs727504297 RCV000154319 CA016867 |
277 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA016872 RCV000036006 rs397516270 |
279 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 280 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4841635 | 280 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000608622 rs1555338574 CA389051898 |
285 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA016905 RCV000151305 rs727503273 |
287 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389051872 rs1216709776 |
289 | I>V | No |
ClinGen gnomAD |
|
|
CA016911 rs730880857 RCV000158770 |
291 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA049402 rs564075781 |
292 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM6075515 | 297 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs759998697 CA049649 |
300 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257825448 rs925939727 |
301 | L>M | No |
ClinGen TOPMed |
|
|
CA049682 rs750654574 |
305 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs201467368 CA049692 |
306 | N>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA389051751 rs397516273 |
307 | P>H | No |
ClinGen Ensembl |
|
|
RCV001537001 RCV000036009 rs397516273 CA016956 |
307 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs761284960 CA049746 |
312 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs761284960 CA016974 |
312 | F>V | No |
ClinGen ExAC gnomAD |
|
| COSM6140179 | 312 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3495247 | 314 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3495246 rs868440817 CA257825401 |
316 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
CA049784 rs759082137 |
317 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000036010 rs397516274 CA016986 |
318 | T>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389051672 rs1312797309 |
319 | T>I | No |
ClinGen gnomAD |
|
|
rs397516275 CA017019 RCV000036012 RCV001548436 |
323 | I>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA257825320 rs372731424 |
326 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| COSM4852633 | 327 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3495245 | 328 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389051603 RCV000489769 rs1085307549 |
330 | M>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA389051606 rs1156297278 |
330 | M>R | No |
ClinGen gnomAD |
|
|
CA389051611 rs1362765271 |
330 | M>V | No |
ClinGen gnomAD |
|
|
rs1441529046 CA389051600 |
331 | A>D | No |
ClinGen gnomAD |
|
|
CA017071 rs397516276 RCV000036016 |
331 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1275864764 CA389051573 |
334 | N>D | No |
ClinGen gnomAD |
|
|
CA389051567 rs34803781 |
334 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA257825013 rs752912971 |
337 | D>N | No |
ClinGen Ensembl |
|
|
CA257824988 rs765585335 |
340 | G>A | No |
ClinGen Ensembl |
|
|
CA027444 rs776227540 |
340 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA389051521 rs1403599991 |
342 | T>I | No |
ClinGen gnomAD |
|
|
rs746879008 CA027456 |
345 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1423221591 CA389051479 |
348 | S>F | No |
ClinGen gnomAD |
|
|
CA010100 RCV001192690 rs730880863 RCV000158780 |
350 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1478915084 CA389051459 |
351 | K>N | No |
ClinGen gnomAD |
|
|
CA389051442 rs397516088 |
355 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 356 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000158783 CA010138 rs730880865 |
357 | M>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 358 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753119645 CA027530 |
362 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs606231317 CA389051392 |
362 | M>V | No |
ClinGen Ensembl |
|
|
rs735711 CA257824930 CA027554 |
365 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1001944415 CA257824921 |
368 | Q>P | No |
ClinGen TOPMed |
|
|
rs1566535829 RCV000678720 |
371 | E>missing | No |
ClinVar dbSNP |
|
|
RCV000523995 rs730880924 CA389051314 |
373 | A>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA389051308 rs1489128381 |
374 | E>V | No |
ClinGen Ensembl |
|
|
rs762422167 CA027580 |
376 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs773599095 CA257823889 |
377 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16616722 rs1265368591 |
381 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 389 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389051180 rs730880925 |
393 | A>T | No |
ClinGen Ensembl |
|
|
rs397516093 CA389051176 RCV000603986 |
394 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1324850187 CA389051170 |
395 | L>M | No |
ClinGen Ensembl |
|
|
rs1555338374 RCV000621111 CA389051166 |
395 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10581178 rs397516094 RCV000223772 |
402 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA010352 RCV000035706 rs397516094 |
402 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 405 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389051101 rs1566535368 |
407 | G>S | No |
ClinGen Ensembl |
|
|
RCV001192692 rs1892823735 |
409 | E>K | No |
ClinVar dbSNP |
|
|
RCV000158791 rs730880869 CA010415 |
412 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1351422092 CA389051060 |
413 | K>R | No |
ClinGen gnomAD |
|
|
rs563668308 CA027872 |
416 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000788941 CA389051001 rs1595086916 |
420 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA257823476 rs956449621 |
421 | I>M | No |
ClinGen TOPMed |
|
|
CA028129 rs775851695 |
421 | I>T | No |
ClinGen ExAC |
|
|
rs730880926 CA010442 |
422 | Y>D | No |
ClinGen Ensembl |
|
|
CA389050980 rs1177694963 |
423 | A>V | No |
ClinGen Ensembl |
|
|
RCV000520540 rs1555338336 CA389050970 RCV002376958 |
425 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1267329552 CA389050962 |
427 | L>M | No |
ClinGen Ensembl |
|
| COSM3495243 | 430 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389050925 rs1566535162 |
433 | E>K | No |
ClinGen Ensembl |
|
| COSM954778 | 437 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA010528 rs730880927 RCV000158887 |
439 | M>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389050868 rs1244840759 |
440 | V>G | No |
ClinGen gnomAD |
|
|
rs730880159 CA389050848 |
444 | N>I | No |
ClinGen Ensembl |
|
|
rs796553039 CA257823360 |
446 | T>P | No |
ClinGen Ensembl |
|
|
rs1281406613 CA389050820 |
449 | T>S | No |
ClinGen Ensembl |
|
|
rs1352198296 CA389050812 |
450 | K>R | No |
ClinGen TOPMed |
|
|
RCV000035716 CA010610 rs397516100 |
451 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs121913625 CA389050796 |
453 | R>G | No |
ClinGen Ensembl |
|
|
CA389050795 rs397516101 |
453 | R>P | No |
ClinGen Ensembl |
|
| COSM4050074 | 458 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs730880872 CA010686 RCV001721010 |
467 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389050707 rs1566535010 |
467 | I>V | No |
ClinGen Ensembl |
|
|
RCV000154454 rs727504338 CA010692 |
468 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397516106 CA389050695 |
469 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359862542 CA389050657 |
472 | S>N | No |
ClinGen gnomAD |
|
| COSM954776 | 474 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs397516107 RCV001775550 CA010743 RCV000035725 |
476 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1413336282 CA389050614 |
478 | I>N | No |
ClinGen Ensembl |
|
|
rs1555338261 RCV000620160 CA389050610 COSM4050073 |
479 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
CA010779 RCV000158888 rs730880928 |
484 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA257823032 rs955314658 |
486 | Q>R | No |
ClinGen TOPMed |
|
|
rs730880874 RCV002390382 CA010786 RCV000158806 |
488 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs730880875 CA389050509 |
493 | M>L | No |
ClinGen Ensembl |
|
|
CA010834 RCV000154315 rs727504296 |
497 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389050456 rs1331230369 |
501 | Y>H | No |
ClinGen Ensembl |
|
|
CA257822949 rs3729813 |
502 | K>N | No |
ClinGen Ensembl |
|
|
rs999352464 CA257822944 |
504 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 504 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM432908 | 508 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 510 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs397516111 RCV000035730 COSM276215 CA010922 |
514 | G>D | liver Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs863224900 CA389050359 |
515 | M>K | No |
ClinGen Ensembl |
|
|
CA257822925 rs1053771131 |
515 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 519 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389050320 rs1261742590 |
521 | I>F | No |
ClinGen gnomAD |
|
| COSM3987587 | 521 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs727504328 CA389050319 |
521 | I>N | No |
ClinGen TOPMed |
|
|
rs773746317 CA389050309 |
522 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 522 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458328453 CA389050314 |
522 | D>Y | No |
ClinGen Ensembl |
|
|
CA389050306 rs1338344443 COSM1731252 |
523 | L>F | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV000154578 rs727504401 CA010967 |
524 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389050297 rs606231324 |
525 | E>Q | No |
ClinGen gnomAD |
|
|
rs1085307615 RCV000489980 CA389050283 |
526 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000618244 CA011028 RCV000035733 rs397516114 |
533 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA028937 rs778623838 |
534 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA011040 RCV003221249 rs730880877 |
536 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA028972 rs781288581 |
537 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA011060 rs397516116 RCV000035736 |
538 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM1300521 | 544 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389050161 rs397516119 |
544 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1208449412 CA389050138 |
547 | T>S | No |
ClinGen TOPMed |
|
|
rs1214637312 CA389050067 |
557 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 559 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs730880878 CA029125 |
561 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA029145 rs774163584 |
568 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs770682343 CA029152 |
570 | K>R | No |
ClinGen ExAC gnomAD |
|
| COSM3495237 | 575 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA029186 rs777672628 |
577 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA029202 rs755077350 |
577 | F>S | No |
ClinGen ExAC gnomAD |
|
| COSM954774 | 578 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000035742 rs397516120 CA011172 |
581 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000245961 CA10587776 rs886038845 |
585 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA029264 rs750628618 |
585 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM240791 rs754465530 CA029304 |
586 | V>M | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1206242158 CA389049869 |
588 | Y>* | No |
ClinGen gnomAD |
|
|
rs764669662 CA029344 |
589 | N>S | No |
ClinGen ExAC |
|
|
CA011238 rs786204372 |
590 | I>V | No |
ClinGen Ensembl |
|
|
CA389049845 rs1566534030 |
592 | G>D | No |
ClinGen Ensembl |
|
| COSM4887497 | 594 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1595085351 CA389049827 |
595 | Q>K | No |
ClinGen Ensembl |
|
|
rs730880931 CA011271 |
599 | D>V | No |
ClinGen Ensembl |
|
|
RCV000156881 CA011288 rs727505332 |
602 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389049780 rs727505332 |
602 | N>Y | No |
ClinGen Ensembl |
|
|
rs1243165126 CA389049769 |
603 | E>D | No |
ClinGen TOPMed |
|
|
rs1131691562 CA389049768 RCV000494567 |
604 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA011302 rs730880881 RCV002410187 |
604 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA501234 RCV000600631 rs1555338124 |
608 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389049732 rs1399475955 |
610 | Q>E | No |
ClinGen Ensembl |
|
|
rs730880882 RCV000158820 CA011337 |
617 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA029497 rs199862338 |
620 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA011371 RCV000158892 rs730880932 |
625 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1174863002 CA389049628 |
627 | A>S | No |
ClinGen gnomAD |
|
|
rs1595085190 RCV000788559 |
628 | D>missing | No |
ClinVar dbSNP |
|
|
rs376572023 COSM337381 |
629 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA029542 rs140824103 |
629 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389049598 rs1216277671 |
630 | P>L | No |
ClinGen gnomAD |
|
|
rs907483085 CA257821879 |
631 | I>L | No |
ClinGen gnomAD |
|
|
RCV000035754 CA011428 rs397516125 |
631 | I>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA030016 rs753305407 |
632 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA030028 rs781662393 |
632 | E>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000223753 rs876661371 CA10581175 |
636 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1337617115 CA389049555 |
637 | K>R | No |
ClinGen gnomAD |
|
|
CA389049535 rs1218027736 |
640 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 649 | A>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3885908 | 653 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA030524 rs760736597 |
657 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA389049413 rs1064793204 |
657 | K>R | No |
ClinGen gnomAD |
|
|
CA389049403 rs1450282560 |
659 | M>T | No |
ClinGen Ensembl |
|
|
rs775546775 CA030552 |
659 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA389049377 rs397516127 |
663 | R>G | No |
ClinGen Ensembl |
|
|
rs1374980600 CA389049357 |
666 | H>Q | No |
ClinGen gnomAD |
|
|
rs769919688 CA030637 |
666 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA389049340 rs1477456311 |
669 | F>I | No |
ClinGen TOPMed |
|
| COSM954770 | 670 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389049318 rs1358491454 |
672 | C>F | No |
ClinGen Ensembl |
|
|
CA011577 RCV000158825 rs730880884 |
673 | I>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389049314 rs1465065232 |
673 | I>V | No |
ClinGen gnomAD |
|
|
rs1188952771 CA389049306 |
674 | I>N | No |
ClinGen TOPMed |
|
|
CA389049290 rs145564868 |
676 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs554149826 CA030991 |
682 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1566532876 CA389049237 |
683 | V>M | No |
ClinGen Ensembl |
|
|
rs1595083889 CA389049212 |
686 | N>K | No |
ClinGen Ensembl |
|
|
rs747382784 CA389049208 |
687 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765634033 CA257821126 |
687 | P>T | No |
ClinGen Ensembl |
|
|
RCV002415693 RCV000158505 CA011627 rs730880731 |
688 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1892685560 RCV001311006 |
689 | V>L | No |
ClinVar dbSNP |
|
|
CA257821115 rs933377951 |
699 | L>R | No |
ClinGen TOPMed |
|
|
COSM1369232 rs756771147 CA031219 |
703 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM71745 CA389049113 rs1232358310 |
703 | R>H | ovary Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA011705 rs730880893 RCV000158836 |
704 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs3181426 CA257821089 |
706 | R>S | No |
ClinGen Ensembl |
|
|
rs397516133 RCV000035764 CA011712 RCV001753443 |
706 | R>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397516134 CA011739 RCV000035766 |
708 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs727504272 RCV000154269 CA011756 |
710 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA011765 rs730880885 |
713 | I>R | No |
ClinGen Ensembl |
|
|
CA389049036 rs146675572 |
715 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs397516135 CA389048982 |
723 | R>P | No |
ClinGen gnomAD |
|
|
CA389048977 rs397516136 |
724 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA031716 rs375911597 |
726 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1389128742 CA389048959 |
727 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 729 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs727504299 RCV000154322 CA011914 |
731 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1397870018 CA389048938 |
732 | E>K | No |
ClinGen gnomAD |
|
|
rs730880886 RCV000158827 |
733 | G>R | No |
ClinVar dbSNP |
|
|
RCV000158518 CA011936 rs727504241 |
733 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397516138 CA389048912 |
736 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000156209 rs727503261 CA011964 |
736 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389048882 rs1212346103 |
740 | K>N | No |
ClinGen Ensembl |
|
|
CA389048877 rs786205907 |
742 | A>G | No |
ClinGen Ensembl |
|
|
CA389048862 rs747848184 |
744 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230771917 CA389048868 |
744 | K>Q | No |
ClinGen gnomAD |
|
|
CA389048848 rs1595083424 |
747 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 748 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM698146 | 752 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA257820658 rs768684538 |
753 | H>D | No |
ClinGen Ensembl |
|
|
rs1280784457 CA389048806 |
753 | H>R | No |
ClinGen gnomAD |
|
|
rs1222933849 CA389048801 |
754 | N>H | No |
ClinGen gnomAD |
|
|
rs746821063 CA031873 |
755 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA389048793 rs746821063 |
755 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA389048786 rs1223446575 |
756 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 756 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344114536 CA389048766 |
758 | F>C | No |
ClinGen Ensembl |
|
| COSM6075518 | 762 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs397516140 CA012062 RCV000035781 |
762 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389048715 rs1595083186 RCV000788317 |
765 | F>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1327129886 CA389048702 |
766 | K>N | No |
ClinGen Ensembl |
|
|
rs397516141 RCV000035782 CA012101 |
766 | K>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 766 | K>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775308260 CA032230 |
771 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1393200173 CA389048632 |
777 | R>S | No |
ClinGen gnomAD |
|
|
CA389048625 rs1427104281 |
779 | E>* | No |
ClinGen Ensembl |
|
|
CA012152 rs727503259 RCV000151275 |
781 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1202046777 CA389048591 |
785 | I>V | No |
ClinGen Ensembl |
|
|
rs781082864 CA032327 |
786 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389048555 rs550570026 |
791 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA257819681 rs1015031034 |
795 | V>L | No |
ClinGen TOPMed |
|
|
CA389048523 rs3218716 |
797 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389048522 rs3218716 |
797 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM432907 | 798 | R>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs397516145 CA257819671 |
801 | Y>D | No |
ClinGen TOPMed |
|
|
rs397516145 RCV000035791 CA012286 |
801 | Y>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
| COSM954767 | 802 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1408157651 CA389048461 |
806 | E>A | No |
ClinGen gnomAD |
|
| COSM6075519 | 807 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs778155895 CA257819549 |
809 | D>E | No |
ClinGen Ensembl |
|
|
RCV000151270 CA012339 rs727503256 |
811 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 812 | L>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16621655 rs1064797184 RCV000487997 |
815 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA032959 rs762996522 |
818 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs730880740 RCV000158537 CA012344 |
820 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs730880741 RCV000158538 CA012350 |
820 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM6075520 | 822 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000035795 rs397516149 CA012395 |
824 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 825 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs730880897 CA012431 |
825 | K>R | No |
ClinGen Ensembl |
|
|
rs730880898 CA012437 RCV000158844 |
826 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 826 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001589131 RCV000618221 rs542565151 CA033052 RCV000217265 |
827 | W>L | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA012445 rs730880744 |
827 | W>R | No |
ClinGen Ensembl |
|
|
rs45526433 CA257819508 |
828 | P>S | No |
ClinGen Ensembl |
|
| COSM432906 | 829 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA012461 RCV000158542 rs730880745 |
832 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000155703 CA012487 rs727504546 |
833 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1336234541 CA389048279 |
834 | F>Y | No |
ClinGen Ensembl |
|
|
RCV000158544 rs730880747 CA012529 |
840 | L>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389048244 rs1131691577 RCV000492999 |
840 | L>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA389048213 RCV000788836 rs1595082612 |
845 | R>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs876657881 CA501236 RCV000217657 |
846 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs397516155 | 847 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM954765 | 847 | K>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389048179 rs1161316457 |
850 | A>D | No |
ClinGen Ensembl |
|
|
rs1406755867 CA389048161 |
853 | K>* | No |
ClinGen TOPMed |
|
|
rs372918112 CA033204 |
854 | E>A | No |
ClinGen ESP ExAC |
|
|
rs372918112 CA389048151 |
854 | E>G | No |
ClinGen ESP ExAC |
|
|
rs730880887 RCV000158828 |
855 | E>missing | No |
ClinVar dbSNP |
|
|
CA389048139 rs1555337717 RCV000620889 |
856 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs2856897 CA033255 |
858 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA012639 RCV000151264 rs2754158 |
858 | R>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA033264 rs759225115 |
860 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389048039 rs727504356 |
868 | A>S | No |
ClinGen gnomAD |
|
|
CA012708 rs730880750 |
869 | R>S | No |
ClinGen TOPMed |
|
|
CA389048020 rs36211715 |
870 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 872 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1515097 | 875 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000154505 rs727504368 |
876 | K>missing | No |
ClinVar dbSNP |
|
| COSM4918965 | 876 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs902687469 CA257819358 |
877 | M>L | No |
ClinGen TOPMed |
|
| COSM1707196 | 879 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs145417343 CA033534 |
879 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs397516160 CA257819348 |
882 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1212642361 CA389047896 |
883 | E>* | No |
ClinGen gnomAD |
|
|
CA257819337 rs765948561 |
886 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 886 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs730880752 CA012795 |
887 | L>R | No |
ClinGen Ensembl |
|
|
CA389047840 COSM552666 COSM6075521 rs372875657 |
888 | Q>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
|
rs758006914 CA033660 |
889 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs730880888 RCV000158829 CA012800 |
889 | L>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1367484535 CA389047812 |
891 | V>A | No |
ClinGen TOPMed |
|
|
rs1367484535 CA389047814 |
891 | V>G | No |
ClinGen TOPMed |
|
|
rs1452212789 CA389047395 |
894 | E>D | No |
ClinGen gnomAD |
|
|
CA034027 rs397516161 |
894 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000035813 rs397516162 CA012847 |
895 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389047377 rs1248055152 |
896 | D>E | No |
ClinGen gnomAD |
|
|
rs766453153 CA034040 |
897 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 898 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 899 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000035814 rs397516163 CA012883 |
900 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA012874 rs730880754 RCV000158562 |
900 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389047340 rs1156750219 |
901 | A>P | No |
ClinGen Ensembl |
|
|
RCV000035815 CA012930 rs397516164 |
906 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA012962 rs730880900 |
908 | L>P | No |
ClinGen Ensembl |
|
|
CA012975 rs377722048 RCV000158850 |
909 | I>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000035821 rs397516168 CA012966 |
909 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000158571 rs730880758 CA012978 |
912 | K>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1360649783 CA389047215 |
913 | I>T | No |
ClinGen Ensembl |
|
|
CA389047207 rs1412226831 |
914 | Q>P | No |
ClinGen gnomAD |
|
|
RCV000035822 rs397516169 CA013010 |
916 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA034174 rs769169704 |
917 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA257818979 rs886082785 |
919 | V>A | No |
ClinGen TOPMed |
|
| COSM3885905 | 919 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA034194 rs730880759 |
921 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1595081779 RCV000995154 |
921 | E>missing | No |
ClinVar dbSNP |
|
|
rs771599539 CA389047135 |
922 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257818957 rs36211716 |
923 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389047123 rs1595081771 |
923 | N>T | No |
ClinGen Ensembl |
|
|
CA389047084 rs397516170 |
927 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756048387 CA034303 |
927 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV002433681 RCV000155723 CA013057 rs727504558 |
928 | D>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389047071 rs727504558 |
928 | D>G | No |
ClinGen Ensembl |
|
|
rs752659706 CA034324 |
929 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 929 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1131691514 CA389047047 RCV000506916 |
931 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000489911 rs765458590 CA389046933 |
941 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1262334618 CA389046923 |
942 | K>R | No |
ClinGen TOPMed |
|
| COSM3495229 | 944 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 947 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350140484 CA389046849 |
948 | S>L | No |
ClinGen gnomAD |
|
| COSM3419726 | 953 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs140718120 CA389046760 RCV000620665 |
956 | D>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA013164 RCV000154523 rs727504374 |
961 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1427382792 CA389046721 |
961 | L>V | No |
ClinGen Ensembl |
|
|
rs778517353 CA034546 RCV000617582 |
964 | V>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs778517353 CA389046687 |
964 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA389046680 rs1473734002 |
965 | E>G | No |
ClinGen gnomAD |
|
|
CA389046633 rs1268647188 |
969 | H>P | No |
ClinGen Ensembl |
|
| COSM6140181 | 969 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389046529 rs1595081435 |
975 | V>G | No |
ClinGen Ensembl |
|
|
CA257818761 rs866198067 |
981 | E>K | No |
ClinGen Ensembl |
|
|
CA389046459 rs1189665932 |
982 | M>I | No |
ClinGen gnomAD |
|
| COSM4541164 | 986 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389046378 rs1595081377 |
990 | A>V | No |
ClinGen Ensembl |
|
|
CA035021 rs549102911 |
991 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA035120 rs762554117 |
994 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1707194 rs1268553099 CA389046337 |
995 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs1437574157 CA389046319 |
996 | K>R | No |
ClinGen TOPMed |
|
|
rs1381730326 CA389046306 |
997 | K>R | No |
ClinGen TOPMed |
|
|
CA389046274 rs1367775839 |
1000 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1002 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6075523 | 1002 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs569520562 CA035198 |
1002 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1005 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1008 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566530227 CA389045859 |
1009 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1012 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867965432 CA257818711 |
1013 | E>D | No |
ClinGen Ensembl |
|
|
rs777675103 CA035343 |
1014 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA035369 rs752843308 |
1016 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs781665004 CA035382 |
1017 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs200714763 CA013327 RCV000172048 RCV000609062 |
1019 | T>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA035407 rs751904168 |
1020 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA389045726 rs1595081240 |
1023 | A>T | No |
ClinGen Ensembl |
|
| COSM1323550 | 1028 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001267642 rs1892569039 |
1029 | Q>P | No |
ClinVar dbSNP |
|
|
rs1351767887 CA389045655 |
1030 | Q>* | No |
ClinGen gnomAD |
|
|
rs749976647 CA035461 |
1030 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1304301925 CA389045632 |
1032 | D>V | No |
ClinGen gnomAD |
|
|
CA389045621 rs1379310472 |
1033 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1035 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257817954 rs551897533 |
1038 | L>P | No |
ClinGen Ensembl |
|
|
rs1364421047 CA389045495 |
1039 | E>Q | No |
ClinGen gnomAD |
|
|
rs397516178 CA389045425 |
1045 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3885902 | 1047 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs759579652 CA035905 |
1050 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA389045363 rs727504358 |
1051 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209381803 CA389045369 |
1051 | A>T | No |
ClinGen TOPMed |
|
|
rs1295046089 CA389045338 |
1054 | K>N | No |
ClinGen gnomAD |
|
|
RCV000158592 rs730880769 CA013428 |
1055 | L>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1432273859 CA389045304 |
1059 | L>M | No |
ClinGen TOPMed |
|
| COSM1477484 | 1062 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389045249 rs550258745 |
1064 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389045245 rs1399305722 COSM3936477 |
1065 | S>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 1065 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296163901 CA389045242 |
1065 | S>T | No |
ClinGen TOPMed |
|
|
CA389045232 rs1327943846 |
1066 | I>T | No |
ClinGen TOPMed |
|
|
rs753321342 CA036113 RCV000484625 |
1066 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 1067 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs137857131 COSM109110 CA036158 |
1070 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs878908005 CA257817897 |
1075 | Q>E | No |
ClinGen Ensembl |
|
|
rs1268821892 CA389045103 CA389045101 |
1077 | D>E | No |
ClinGen gnomAD |
|
| COSM1300519 | 1078 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000766443 RCV000151251 CA013459 rs192722540 |
1079 | R>G | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA389045068 rs1566529102 |
1081 | K>R | No |
ClinGen Ensembl |
|
|
rs1412422808 CA389044590 |
1083 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1084 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4398861 | 1088 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1566528510 CA389044520 |
1089 | A>V | No |
ClinGen Ensembl |
|
|
RCV000158599 CA013512 rs730880772 |
1090 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA036542 rs764335885 |
1090 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200664031 CA389044502 |
1091 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903645509 CA257816463 |
1091 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772216320 CA036593 |
1092 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389044467 rs1281039788 |
1095 | E>G | No |
ClinGen gnomAD |
|
| COSM469830 | 1096 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389044462 rs45478699 |
1096 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA036711 rs747677662 |
1104 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA036734 rs575577624 |
1106 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| COSM698151 | 1107 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389044347 rs1232767641 |
1107 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 1107 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389044332 rs1446336011 |
1108 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1109 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4398433 | 1111 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA257815839 rs727504274 |
1116 | E>Q | No |
ClinGen Ensembl |
|
|
rs1214782514 CA389044193 |
1116 | E>V | No |
ClinGen gnomAD |
|
|
CA037089 rs778821604 |
1117 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA389044134 rs1366071195 |
1121 | E>V | No |
ClinGen gnomAD |
|
|
RCV000151249 VAR_017753 CA013644 rs1041961 |
1124 | A>S | No |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
|
CA389044108 rs1041961 |
1124 | A>T | No |
ClinGen gnomAD |
|
|
rs1005639082 CA257815799 |
1126 | R>H | No |
ClinGen gnomAD |
|
|
CA389044082 rs1595078538 |
1127 | T>A | No |
ClinGen Ensembl |
|
|
CA037183 rs751538114 |
1130 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1595078492 CA389043972 |
1138 | D>A | No |
ClinGen Ensembl |
|
|
rs763119156 CA037252 |
1140 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs773604076 CA037275 |
1141 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA013692 RCV000158606 rs730880774 |
1142 | E>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA389043938 rs730880774 |
1142 | E>Q | No |
ClinGen TOPMed |
|
|
CA389043924 rs1462712111 |
1143 | L>V | No |
ClinGen gnomAD |
|
|
rs762361166 CA037306 |
1146 | I>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1147 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777190219 CA037344 |
1147 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA013712 RCV000172047 rs786205355 |
1148 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA389043875 rs786205355 |
1148 | E>Q | No |
ClinGen gnomAD |
|
|
CA037355 rs768978215 |
1149 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1331075686 CA389043792 |
1156 | A>V | No |
ClinGen gnomAD |
|
|
rs1395277862 CA389043772 |
1159 | V>A | No |
ClinGen gnomAD |
|
|
CA037601 rs748972327 |
1163 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA037632 rs777783900 |
1165 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA389043707 rs777783900 |
1165 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA037643 rs755958710 |
1166 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA037664 rs751695298 |
1167 | R>C | No |
ClinGen ExAC |
|
|
rs758666816 CA037700 |
1169 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1423656410 CA389043658 |
1169 | A>V | No |
ClinGen gnomAD |
|
|
rs765653395 CA037742 |
1173 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1246908259 CA389043618 |
1173 | K>R | No |
ClinGen gnomAD |
|
|
rs776802481 CA037775 |
1175 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| COSM954762 | 1176 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389043584 rs1243958077 |
1177 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA037791 rs764682780 |
1178 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA389043565 rs1252968086 |
1179 | E>Q | No |
ClinGen TOPMed |
|
|
CA389043549 rs1314524948 |
1180 | E>A | No |
ClinGen gnomAD |
|
|
rs1248459607 CA389043533 |
1181 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1383737531 CA389043524 |
1182 | T>M | No |
ClinGen gnomAD |
|
|
CA037799 rs761045243 |
1183 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1290041752 CA389043490 |
1186 | E>* | No |
ClinGen gnomAD |
|
|
rs1457787531 CA389043486 |
1186 | E>G | No |
ClinGen gnomAD |
|
|
rs1405385498 CA389043464 |
1188 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1189 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444900556 CA389043439 |
1190 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1352759754 COSM403355 CA389043430 |
1191 | A>D | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs774151903 CA037869 |
1191 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000845530 rs886039090 CA389043416 |
1193 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389043383 rs1431515973 |
1196 | H>Y | No |
ClinGen TOPMed |
|
|
rs1307360729 CA389043355 |
1198 | D>G | No |
ClinGen Ensembl |
|
|
rs1222899350 CA389043350 |
1199 | S>G | No |
ClinGen gnomAD |
|
|
CA389043347 rs1341157676 |
1199 | S>N | No |
ClinGen gnomAD |
|
|
CA013829 RCV000158613 rs730880779 |
1199 | S>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1341157676 CA389043346 |
1199 | S>T | No |
ClinGen gnomAD |
|
|
CA037993 rs748011341 |
1202 | E>* | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA038018 rs780161213 |
1202 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA038065 rs750435565 |
1204 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs397516188 CA038038 |
1204 | G>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000482397 rs961038594 CA16619847 |
1205 | E>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs757370100 CA038093 |
1206 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000035860 CA013898 rs397516189 |
1209 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA038184 rs397516189 |
1209 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA389043210 rs1595078119 |
1213 | V>G | No |
ClinGen Ensembl |
|
|
CA257815434 rs915081927 |
1215 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA038247 rs727504647 |
1222 | S>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000155910 rs727504647 CA013937 |
1222 | S>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 1226 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769460736 CA038269 |
1227 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1231 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA038296 rs768521734 |
1233 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA389042968 rs1232672266 |
1235 | M>I | No |
ClinGen gnomAD |
|
|
CA389042973 rs1595078054 |
1235 | M>T | No |
ClinGen Ensembl |
|
|
CA038337 rs778922437 |
1240 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753994801 CA038360 |
1242 | K>R | No |
ClinGen ExAC |
|
|
rs540263945 CA038693 |
1250 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389042751 rs1320289690 |
1252 | L>S | No |
ClinGen gnomAD |
|
| COSM3495224 | 1256 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs149103761 CA038769 |
1259 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780435225 CA038835 |
1261 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1463884447 CA389042623 |
1263 | A>T | No |
ClinGen gnomAD |
|
| COSM3495223 | 1265 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs753486249 CA038945 |
1266 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1595077623 CA389042053 |
1266 | T>P | No |
ClinGen Ensembl |
|
|
CA039008 rs775308431 |
1270 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000598623 rs1555337023 |
1271 | N>missing | No |
ClinVar dbSNP |
|
|
RCV000158621 rs730880783 CA014115 |
1271 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389041995 rs1595077597 |
1272 | D>A | No |
ClinGen Ensembl |
|
|
CA389041976 rs1566527235 |
1274 | T>N | No |
ClinGen Ensembl |
|
|
rs1271376197 CA389041980 |
1274 | T>P | No |
ClinGen gnomAD |
|
|
rs1431426557 CA389041966 |
1275 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1276 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389041929 rs1183512373 |
1279 | K>R | No |
ClinGen gnomAD |
|
|
CA389041894 rs1595077544 |
1282 | T>A | No |
ClinGen Ensembl |
|
|
rs1432333290 CA389041816 |
1285 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 1288 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6075524 | 1290 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389041747 rs1264056356 |
1292 | D>V | No |
ClinGen TOPMed |
|
|
rs1555336976 RCV000604054 |
1294 | K>missing | No |
ClinVar dbSNP |
|
|
rs1206951641 CA389041705 |
1296 | A>T | No |
ClinGen TOPMed |
|
|
rs1566527011 CA389041689 |
1297 | L>Q | No |
ClinGen Ensembl |
|
|
rs1353720792 CA389041663 |
1300 | Q>P | No |
ClinGen gnomAD |
|
|
rs730880934 RCV000158895 |
1301 | L>missing | No |
ClinVar dbSNP |
|
|
CA389041596 rs1595077193 |
1307 | T>S | No |
ClinGen Ensembl |
|
|
CA039462 rs775776635 |
1311 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs886050419 TCGA novel CA389041551 |
1312 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
| COSM3885900 | 1313 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1410616733 CA389041515 |
1315 | L>F | No |
ClinGen gnomAD |
|
|
rs1566526957 CA389041474 |
1318 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 1321 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10587770 RCV000243416 rs886038864 |
1321 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389041428 rs1240762183 |
1322 | E>D | No |
ClinGen gnomAD |
|
|
rs1595077135 CA389041420 |
1323 | V>G | No |
ClinGen Ensembl |
|
|
CA014251 RCV000151244 rs727503247 |
1323 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749775509 CA257814527 |
1324 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA039790 rs768393069 |
1325 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364747700 CA389041353 |
1325 | A>T | No |
ClinGen gnomAD |
|
|
rs1165088306 CA389041337 |
1326 | K>N | No |
ClinGen gnomAD |
|
|
CA389041314 rs1190352255 |
1328 | A>V | No |
ClinGen gnomAD |
|
|
CA389041300 rs1262406064 |
1330 | A>D | No |
ClinGen gnomAD |
|
|
rs906988456 CA257813942 |
1330 | A>T | No |
ClinGen TOPMed |
|
|
RCV000412792 CA16042848 rs1057517881 |
1331 | H>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs755254294 CA039982 |
1335 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1336 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762191995 CA040058 |
1340 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs775285385 CA040117 |
1341 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA389041196 rs746724436 |
1341 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs746724436 CA040099 |
1341 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1054788007 CA257813893 |
1343 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs730880787 RCV002372035 RCV000158629 CA014382 |
1346 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389041112 rs1316692489 |
1350 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 1352 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6140184 | 1353 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA257813833 rs376040196 |
1353 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA389041064 rs1481659240 |
1354 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA040229 rs781402024 |
1354 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs730880788 RCV000158631 CA014407 |
1357 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs551493326 CA389041018 |
1358 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1335436245 COSM3495218 CA389040982 |
1362 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA257813811 rs112771600 |
1362 | S>T | No |
ClinGen Ensembl |
|
|
rs764594122 CA040373 |
1364 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs730880907 CA014452 RCV000158861 |
1365 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA257813773 rs948630591 |
1368 | V>G | No |
ClinGen Ensembl |
|
|
rs764079012 CA257813759 |
1369 | A>S | No |
ClinGen Ensembl |
|
| COSM2153959 | 1369 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3814554 | 1369 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389040904 rs1361779196 |
1370 | Q>H | No |
ClinGen gnomAD |
|
|
CA389040910 rs1381445832 |
1370 | Q>K | No |
ClinGen Ensembl |
|
| COSM3495217 | 1371 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs730880908 CA014462 RCV000158862 |
1373 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs730880791 RCV000158635 RCV002326900 CA014488 |
1376 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA014517 rs730880909 |
1381 | Q>E | No |
ClinGen ExAC gnomAD |
|
| COSM1300518 | 1385 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs727504703 CA389040746 |
1386 | L>V | No |
ClinGen Ensembl |
|
| COSM954756 | 1387 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3495216 | 1390 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6140185 | 1391 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM432904 | 1394 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs730880891 RCV000158833 |
1397 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1398 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776362267 CA041145 |
1399 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA014639 rs727505025 RCV000156451 |
1402 | E>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA014643 rs397516204 RCV000035891 |
1403 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA041281 rs781659682 |
1406 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1383499462 CA389040395 |
1413 | S>T | No |
ClinGen TOPMed |
|
| COSM5300499 | 1415 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6075526 COSM552674 rs1183549974 CA389040379 |
1415 | E>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1213440014 CA389040360 |
1416 | K>N | No |
ClinGen gnomAD |
|
| COSM4050066 | 1420 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1595075319 CA389040317 |
1421 | L>I | No |
ClinGen Ensembl |
|
|
rs730880798 CA014734 RCV000158649 |
1424 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA014757 rs730880799 |
1427 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1427 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389040220 rs1380579794 |
1429 | M>I | No |
ClinGen gnomAD |
|
|
CA389040227 RCV000788802 rs1595075282 |
1429 | M>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs770176963 CA041505 |
1429 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs45560242 CA389040199 |
1431 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144200285 CA389040196 |
1432 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs797044599 CA347256 |
1439 | A>P | No |
ClinGen Ensembl |
|
|
CA389040107 rs1382886554 |
1440 | A>V | No |
ClinGen gnomAD |
|
|
CA014823 rs397516210 RCV000035902 |
1444 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1444 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566525485 CA389040014 |
1448 | N>K | No |
ClinGen Ensembl |
|
|
CA389040018 rs753484341 |
1448 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM698155 | 1455 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs771377530 CA042046 |
1455 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA389038878 rs1459134903 |
1456 | W>* | No |
ClinGen gnomAD |
|
|
rs1382626483 CA389038862 |
1457 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs190577943 CA042063 |
1458 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1219432403 CA389038817 |
1459 | K>R | No |
ClinGen TOPMed |
|
|
rs995126992 CA257811807 |
1461 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1033511138 CA257811798 |
1465 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1595074843 CA389038708 |
1466 | E>K | No |
ClinGen Ensembl |
|
|
rs876657884 RCV000216261 CA10576953 |
1468 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389038632 rs1468116782 |
1470 | S>L | No |
ClinGen gnomAD |
|
|
RCV000035910 CA014945 rs397516215 |
1470 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1318269801 CA389038575 |
1473 | E>G | No |
ClinGen Ensembl |
|
|
CA389038572 rs1318269801 |
1473 | E>V | No |
ClinGen Ensembl |
|
|
rs529657543 CA257811764 |
1474 | A>S | No |
ClinGen gnomAD |
|
| COSM3495212 | 1477 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1176486596 CA389038506 |
1478 | S>G | No |
ClinGen TOPMed |
|
|
CA042253 rs752867429 |
1479 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1480 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA042274 rs767666398 RCV000494246 |
1481 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA389038450 rs767666398 |
1481 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389038383 rs1595074754 |
1485 | K>Q | No |
ClinGen Ensembl |
|
|
CA257811689 rs200855376 |
1486 | N>D | No |
ClinGen 1000Genomes |
|
| COSM262223 | 1489 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1369220 | 1490 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000158866 CA015001 rs730880911 RCV000219927 |
1490 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA042359 rs763343366 |
1491 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1488630967 CA389038302 |
1497 | T>N | No |
ClinGen TOPMed gnomAD |
|
| COSM4050063 | 1498 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389038297 rs1445128471 |
1498 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA389038289 rs1334722181 |
1499 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs121913647 CA257811620 |
1500 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM1369219 | 1503 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6140187 | 1504 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1381038165 CA389038240 |
1506 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA257811422 rs543139794 |
1507 | E>D | No |
ClinGen TOPMed |
|
| COSM1323551 | 1507 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3495210 | 1507 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1033543834 CA257811415 |
1508 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA389038216 rs397516221 |
1509 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257811391 rs938363422 |
1510 | S>F | No |
ClinGen Ensembl |
|
|
CA015090 rs730880802 RCV000158662 |
1511 | D>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs780259714 CA042803 |
1512 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000035920 CA015102 rs397516223 |
1514 | E>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs765697662 CA042855 |
1515 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA389038168 CA389038167 rs1398810841 |
1516 | L>F | No |
ClinGen gnomAD |
|
| VAR_042831 | 1519 | S>C | No | UniProt | |
|
rs1426916207 CA389038136 |
1521 | K>N | No |
ClinGen TOPMed |
|
|
RCV001092196 rs1892237346 |
1526 | L>P | No |
ClinVar dbSNP |
|
|
rs1469748218 CA389038101 |
1527 | E>Q | No |
ClinGen TOPMed |
|
|
rs1595074307 CA389038086 |
1529 | V>I | No |
ClinGen Ensembl |
|
|
CA042978 RCV000498132 rs397516225 |
1530 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs758608878 CA043041 |
1535 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779315151 CA389038044 RCV000598792 |
1536 | E>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs779315151 CA043069 COSM172540 |
1536 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1595074257 CA389038028 |
1538 | M>L | No |
ClinGen Ensembl |
|
|
RCV001193365 RCV003132256 rs1446214564 CA389038016 |
1539 | E>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 1542 | S>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3885899 | 1543 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1333965416 CA389037974 |
1546 | E>Q | No |
ClinGen gnomAD |
|
|
CA257811218 rs1025023496 |
1548 | E>Q | No |
ClinGen TOPMed |
|
|
CA043434 rs142694139 |
1554 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM4050062 | 1557 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA043503 rs201326686 |
1558 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1064796334 RCV000481324 CA16619846 |
1561 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1263708425 CA389037866 |
1562 | Q>* | No |
ClinGen gnomAD |
|
|
rs1263708425 CA389037865 |
1562 | Q>E | No |
ClinGen gnomAD |
|
|
rs988401698 CA257810700 |
1566 | N>S | No |
ClinGen TOPMed |
|
| COSM432903 | 1567 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA015240 rs199557822 CA043659 RCV000172043 |
1569 | K>N | No |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
|
rs730880807 CA389037806 |
1570 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000035927 rs397516227 CA015258 RCV002336117 |
1574 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA389037771 rs1399530883 |
1576 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1577 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5692528 | 1578 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs201469051 CA389037738 |
1580 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM3885898 | 1580 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6140189 | 1582 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389037717 rs1595073539 |
1583 | M>T | No |
ClinGen Ensembl |
|
|
rs765004831 CA043766 |
1584 | E>G | No |
ClinGen ExAC gnomAD |
|
| COSM5005741 | 1587 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs797044600 CA347259 |
1588 | R>P | No |
ClinGen gnomAD |
|
|
CA389037683 rs1194197356 |
1588 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs730880808 CA347262 RCV000484676 |
1591 | L>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1595073478 CA389037644 |
1594 | V>G | No |
ClinGen Ensembl |
|
|
rs763882473 CA043815 |
1594 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs763882473 CA389037647 |
1594 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA043838 rs759691931 |
1596 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1605 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389037578 rs1238460260 |
1605 | T>R | No |
ClinGen TOPMed |
|
|
rs1595073439 CA389037580 |
1605 | T>S | No |
ClinGen Ensembl |
|
|
rs769006978 CA043942 |
1607 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs951187471 CA257810583 |
1607 | S>T | No |
ClinGen Ensembl |
|
|
CA043977 COSM2031754 rs587779391 |
1608 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs587779391 CA043989 |
1608 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454771889 CA389037564 |
1609 | N>H | No |
ClinGen gnomAD |
|
|
CA389037558 rs587781085 |
1609 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000523739 rs1555336439 |
1609 | N>SRNQ | No |
ClinVar dbSNP |
|
|
CA389037532 rs1595073347 |
1614 | V>G | No |
ClinGen Ensembl |
|
|
CA389037535 rs1200299259 |
1614 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389037537 rs1200299259 |
1614 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1257400566 CA389037504 |
1618 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1620 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389037482 rs1595073304 |
1621 | D>A | No |
ClinGen Ensembl |
|
|
rs751747383 CA044085 |
1621 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000493336 CA389037459 rs766561921 RCV000618238 |
1624 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1373288802 CA389037456 |
1625 | M>L | No |
ClinGen TOPMed |
|
|
CA389037447 rs1333419431 |
1626 | E>* | No |
ClinGen gnomAD |
|
|
rs1445124103 CA389037440 |
1627 | I>L | No |
ClinGen TOPMed |
|
|
rs1311931350 CA389037436 |
1627 | I>S | No |
ClinGen TOPMed |
|
|
CA389037433 rs1394145113 |
1628 | Q>K | No |
ClinGen gnomAD |
|
|
rs1435525455 RCV000617490 CA389037403 |
1632 | A>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
COSM6075528 CA389037401 COSM552676 rs1435525455 |
1632 | A>V | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1595073255 CA389037397 |
1633 | N>S | No |
ClinGen Ensembl |
|
|
rs397516232 CA389037393 |
1634 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs769259796 CA044177 |
1635 | M>V | No |
ClinGen ExAC gnomAD |
|
| COSM4050060 | 1636 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1350764949 CA389037354 |
1640 | Q>H | No |
ClinGen gnomAD |
|
|
CA044243 rs756827282 |
1640 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389037355 rs756827282 |
1640 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA044261 rs777416671 |
1648 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA044271 rs756142583 |
1650 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1651 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs397516233 CA044527 |
1652 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1654 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM954744 | 1654 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1006534868 CA389037203 |
1660 | A>V | No |
ClinGen TOPMed |
|
|
rs1358266100 CA389037201 |
1661 | V>I | No |
ClinGen TOPMed |
|
|
CA389037200 rs1358266100 |
1661 | V>L | No |
ClinGen TOPMed |
|
|
rs1398693075 CA389037184 |
1664 | N>S | No |
ClinGen gnomAD |
|
|
CA389037160 rs1476838032 |
1668 | K>E | No |
ClinGen Ensembl |
|
|
CA389037158 rs1455202717 |
1668 | K>R | No |
ClinGen gnomAD |
|
|
rs786204381 CA015551 |
1671 | I>T | No |
ClinGen Ensembl |
|
|
rs397516234 RCV000035945 |
1672 | A>missing | No |
ClinVar dbSNP |
|
|
rs753907340 RCV002341228 RCV000522797 CA044805 |
1673 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA389037123 rs397516235 |
1674 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389037095 rs1300410707 |
1679 | N>H | No |
ClinGen gnomAD |
|
|
CA045106 rs762398027 |
1679 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs762398027 CA389037092 |
1679 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs772745454 CA045118 |
1680 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA389037067 rs1478620063 |
1683 | A>V | No |
ClinGen TOPMed |
|
| COSM2031747 | 1684 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs776639582 CA045149 |
1685 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1410160839 CA389037040 |
1687 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1687 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA045171 rs730880915 |
1689 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389037025 rs1211929659 |
1690 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| COSM6075529 | 1691 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs727505033 RCV000156459 CA015637 |
1692 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM697424 | 1693 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389036990 rs1224778623 |
1696 | E>K | No |
ClinGen gnomAD |
|
| COSM6075530 | 1697 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1282833804 CA389036983 |
1697 | R>W | No |
ClinGen gnomAD |
|
| COSM954742 | 1698 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1297199116 CA389036972 |
1699 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA045298 rs750013359 |
1702 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA045310 rs750013359 |
1702 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000156190 RCV000766466 rs727504844 CA015687 |
1704 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1705 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257809772 rs869225593 |
1708 | E>D | No |
ClinGen Ensembl |
|
|
CA257809766 rs869279274 |
1710 | S>N | No |
ClinGen gnomAD |
|
|
CA045393 rs771954434 |
1710 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs193922390 COSM4401455 CA389036893 |
1712 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs869124259 CA257809697 |
1714 | Q>H | No |
ClinGen Ensembl |
|
| COSM3885897 | 1718 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776666954 | 1720 | N>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595072384 CA389036827 |
1721 | T>P | No |
ClinGen Ensembl |
|
| COSM6075531 | 1723 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000296105 rs886044910 |
1724 | I>missing | No |
ClinVar dbSNP |
|
|
rs1437987804 CA389036801 |
1724 | I>M | No |
ClinGen Ensembl |
|
|
CA389036803 rs1399417992 |
1724 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1725 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM954740 | 1727 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA045671 rs780076678 |
1729 | K>N | No |
ClinGen ExAC gnomAD |
|
| COSM4850286 | 1733 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1734 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA045696 rs772504062 |
1734 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1251170415 CA389036725 |
1735 | S>F | No |
ClinGen gnomAD |
|
|
rs1469341108 CA389036303 |
1739 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1196094448 CA389036308 |
1739 | T>P | No |
ClinGen gnomAD |
|
| COSM4551191 | 1740 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1742 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1743 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA045751 rs752406339 |
1744 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA045746 rs777325314 |
1744 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA045759 rs752406339 |
1744 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs893202710 CA257809423 |
1751 | A>D | No |
ClinGen Ensembl |
|
| COSM1515107 | 1753 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1290890790 CA389036143 |
1753 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs545585809 CA389036149 |
1753 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA16622067 rs1566522855 |
1756 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1758 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299007223 CA389036067 |
1759 | I>T | No |
ClinGen gnomAD |
|
|
CA389036050 rs1306082414 COSM1707191 |
1761 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA389035983 rs1301238571 |
1762 | A>T | No |
ClinGen TOPMed |
|
|
rs773795845 CA046126 |
1763 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA389035953 rs1284464290 |
1764 | M>K | No |
ClinGen Ensembl |
|
|
CA389035928 rs1214071158 |
1765 | M>I | No |
ClinGen TOPMed |
|
|
rs267606909 CA389035924 |
1766 | A>S | No |
ClinGen Ensembl |
|
|
RCV000221385 CA10576951 rs876657886 |
1768 | E>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA046213 rs780553495 |
1768 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA389035865 rs1326035646 |
1772 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| COSM3793594 | 1772 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM416236 | 1775 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1778 | H>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165241588 CA389035781 |
1780 | E>V | No |
ClinGen gnomAD |
|
|
CA046537 rs759628313 |
1783 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1437580706 CA389035755 |
1784 | K>R | No |
ClinGen TOPMed |
|
|
CA389035733 RCV000489988 rs1085308025 |
1787 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs876661179 RCV000219460 |
1788 | Q>H | No |
ClinVar dbSNP |
|
|
CA046577 rs763412364 |
1788 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA046595 rs773427105 |
1790 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA389035707 rs1362660967 |
1791 | K>Q | No |
ClinGen TOPMed |
|
|
CA389035697 rs1595071843 |
1792 | D>A | No |
ClinGen Ensembl |
|
|
rs770389433 CA046609 |
1792 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA389035656 rs1433063251 |
1796 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777053791 CA389035621 |
1798 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000158873 rs730880917 CA016063 |
1800 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs730880817 RCV000158699 RCV000214438 CA016070 |
1800 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM3495203 rs745729408 CA046717 |
1807 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs45594737 CA257808971 |
1808 | G>A | No |
ClinGen Ensembl |
|
| COSM432900 | 1813 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389035383 rs1237492738 |
1814 | K>E | No |
ClinGen TOPMed |
|
|
rs755136990 CA046786 |
1816 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1819 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1369215 | 1823 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA046876 rs769112519 |
1824 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769112519 CA389035257 |
1824 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3814551 | 1825 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs368848344 CA389035198 |
1827 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM1258468 | 1827 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs143562243 CA046922 |
1829 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA257808876 rs113137192 |
1830 | Q>R | No |
ClinGen Ensembl |
|
|
CA046932 rs201865159 |
1832 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777893031 CA046966 |
1833 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA389035114 rs1204906428 |
1835 | E>G | No |
ClinGen gnomAD |
|
|
RCV000172040 rs758436258 CA016161 |
1835 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV000158705 CA016167 rs727503242 |
1836 | S>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA389035105 rs1181562416 |
1837 | V>M | No |
ClinGen TOPMed |
|
| COSM4816923 | 1840 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1350134416 CA389035084 |
1840 | M>V | No |
ClinGen gnomAD |
|
|
rs761162402 CA389035056 |
1843 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1443313324 CA389035049 |
1844 | E>D | No |
ClinGen gnomAD |
|
|
CA389035023 rs1173287224 |
1849 | E>G | No |
ClinGen TOPMed |
|
|
rs1177582236 CA389035016 |
1850 | L>H | No |
ClinGen gnomAD |
|
|
CA389035009 rs1257157954 |
1851 | T>S | No |
ClinGen gnomAD |
|
|
rs1555336125 RCV000519585 CA389035004 |
1852 | Y>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM2031723 rs368706722 |
1854 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| COSM3495201 | 1855 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389034934 rs1595070775 |
1860 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1862 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368710110 CA389034921 |
1862 | L>P | No |
ClinGen gnomAD |
|
|
rs1595070745 CA389034900 |
1866 | D>A | No |
ClinGen Ensembl |
|
|
RCV000788632 CA389034887 rs1595070738 |
1868 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs560939959 CA047637 |
1868 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| COSM6140192 | 1871 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs778008286 CA389034819 |
1878 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1878 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1879 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1286436 | 1880 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA389034792 rs1595070704 |
1882 | A>V | No |
ClinGen Ensembl |
|
|
rs1892080169 RCV001280564 |
1885 | A>G | No |
ClinVar dbSNP |
|
|
rs1314857358 CA389034755 |
1886 | E>G | No |
ClinGen gnomAD |
|
|
rs730880892 RCV000158834 |
1887 | E>missing | No |
ClinVar dbSNP |
|
|
CA016357 rs375404554 RCV000035975 |
1887 | E>G | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs1455720399 CA389034733 |
1889 | A>V | No |
ClinGen gnomAD |
|
|
rs1216145006 CA389034726 |
1890 | N>S | No |
ClinGen TOPMed |
|
|
CA257807584 rs868275632 |
1895 | K>R | No |
ClinGen Ensembl |
|
|
rs778562229 CA047967 |
1896 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA016376 RCV000154543 rs727504384 |
1899 | V>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs763606475 CA048008 |
1900 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA257807514 rs45570635 |
1901 | H>Q | No |
ClinGen gnomAD |
|
|
CA389034588 rs1396486231 |
1912 | I>V | No |
ClinGen TOPMed |
|
|
CA389034578 rs1389958123 |
1913 | A>V | No |
ClinGen gnomAD |
|
|
rs1892067860 RCV001268964 |
1918 | N>missing | No |
ClinVar dbSNP |
|
|
rs397516256 CA257807344 |
1921 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1924 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257807342 rs755706526 |
1925 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1350272976 CA389034495 |
1927 | I>T | No |
ClinGen TOPMed |
|
|
CA389034491 rs1469642680 |
1928 | G>C | No |
ClinGen gnomAD |
|
|
rs754705892 CA048231 |
1928 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA389034488 rs1595070350 |
1929 | T>A | No |
ClinGen Ensembl |
|
|
CA257805641 rs369781318 |
1931 | G>A | No |
ClinGen ESP |
|
|
rs1595069649 CA389033432 |
1931 | G>C | No |
ClinGen Ensembl |
|
|
rs907589577 CA257805623 |
1935 | E>K | No |
ClinGen Ensembl |
6 associated diseases with P12883
[MIM: 192600]: Cardiomyopathy, familial hypertrophic, 1 (CMH1)
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 608358]: Congenital myopathy 7A, myosin storage, autosomal dominant (CMYP7A)
A skeletal muscle disorder characterized by prominent axial and proximal weakening, spinal stiffness, severe scoliosis, with or without respiratory and cardiac involvement. The age at symptom onset can range from early childhood to late adulthood, and disease severity ranges from asymptomatic to severe muscular weakness and respiratory insufficiency. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613426]: Cardiomyopathy, dilated, 1S (CMD1S)
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 160500]: Myopathy, distal, 1 (MPD1)
A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 255160]: Congenital myopathy 7B, myosin storage, autosomal recessive (CMYP7B)
A skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable. Most patients develop respiratory insufficiency and restrictive lung disease. Some develop hypertrophic cardiomyopathy. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613426]: Left ventricular non-compaction 5 (LVNC5)
A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. . Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
Without disease ID
- A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A skeletal muscle disorder characterized by prominent axial and proximal weakening, spinal stiffness, severe scoliosis, with or without respiratory and cardiac involvement. The age at symptom onset can range from early childhood to late adulthood, and disease severity ranges from asymptomatic to severe muscular weakness and respiratory insufficiency. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable. Most patients develop respiratory insufficiency and restrictive lung disease. Some develop hypertrophic cardiomyopathy. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. . Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
11 regional properties for P12883
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| binding_site | IQ motif, EF-hand binding site | 765 - 787 | IPR000048-1 |
| binding_site | IQ motif, EF-hand binding site | 788 - 810 | IPR000048-2 |
| binding_site | IQ motif, EF-hand binding site | 813 - 835 | IPR000048-3 |
| binding_site | IQ motif, EF-hand binding site | 836 - 858 | IPR000048-4 |
| binding_site | IQ motif, EF-hand binding site | 861 - 883 | IPR000048-5 |
| binding_site | IQ motif, EF-hand binding site | 884 - 906 | IPR000048-6 |
| domain | Myosin head, motor domain | 63 - 764 | IPR001609 |
| domain | Dilute domain | 1524 - 1801 | IPR002710 |
| domain | Myosin, N-terminal, SH3-like | 8 - 60 | IPR004009 |
| domain | Class V myosin, motor domain | 83 - 751 | IPR036103 |
| domain | Myosin 5b, cargo-binding domain | 1472 - 1843 | IPR037990 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR45615 | MYOSIN HEAVY CHAIN, NON-MUSCLE |
| PANTHER Subfamily | PTHR45615:SF1 | MYOSIN-7 |
| PANTHER Protein Class |
cytoskeletal protein
actin or actin-binding cytoskeletal protein |
|
| PANTHER Pathway Category |
Inflammation mediated by chemokine and cytokine signaling pathway Myosin Wnt signaling pathway NFAT Target Genes Cytoskeletal regulation by Rho GTPase Myosin Nicotinic acetylcholine receptor signaling pathway Myosin |
|
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| muscle myosin complex | A filament of myosin found in a muscle cell of any type. |
| myofibril | The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. |
| myosin complex | A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes. |
| myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
| myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
| sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| adult heart development | The process whose specific outcome is the progression of the adult heart over time, from its formation to the mature structure. |
| ATP metabolic process | The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. |
| cardiac muscle contraction | Muscle contraction of cardiac muscle tissue. |
| cardiac muscle hypertrophy in response to stress | The physiological enlargement or overgrowth of all or part of the heart muscle due to an increase in size (not length) of individual cardiac muscle fibers, without cell division, as a result of a disturbance in organismal or cellular homeostasis. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| muscle filament sliding | The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of slow-twitch skeletal muscle fiber contraction | Any process that modulates the frequency, rate or extent of slow-twitch skeletal muscle contraction. |
| regulation of the force of heart contraction | Any process that modulates the extent of heart contraction, changing the force with which blood is propelled. |
| regulation of the force of skeletal muscle contraction | Any process that modulates the frequency, rate or extent of the force of skeletal muscle contraction. The force of skeletal muscle contraction is produced by acto-myosin interaction processes through the formation of cross bridges. |
| sarcomere organization | The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
| skeletal muscle contraction | A process in which force is generated within skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control. |
| striated muscle contraction | A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. |
| transition between fast and slow fiber | The process of conversion of fast-contracting muscle fibers to a slower character. This may involve slowing of contractile rate, slow myosin gene induction, increase in oxidative metabolic properties, altered electrophysiology and altered innervation. This process also regulates skeletal muscle adapatation. |
| ventricular cardiac muscle tissue morphogenesis | The process in which the anatomical structures of cardiac ventricle muscle is generated and organized. |
48 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BE40 | MYH1 | Myosin-1 | Bos taurus (Bovine) | SS |
| Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
| Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
| Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
| P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
| P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
| P02565 | MYH1B | Myosin-1B | Gallus gallus (Chicken) | SS |
| P13538 | Myosin heavy chain, skeletal muscle, adult | Gallus gallus (Chicken) | SS | |
| P49824 | MYH7 | Myosin-7 | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
| Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
| P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
| Q8MJU9 | MYH7 | Myosin-7 | Equus caballus (Horse) | SS |
| A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
| P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
| P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
| P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
| P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
| Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
| Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
| Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
| Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
| P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
| P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
| P35579 | MYH9 | Myosin-9 | Homo sapiens (Human) | SS |
| Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
| Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | SS |
| Q5SX39 | Myh4 | Myosin-4 | Mus musculus (Mouse) | SS |
| P13542 | Myh8 | Myosin-8 | Mus musculus (Mouse) | SS |
| Q02566 | Myh6 | Myosin-6 | Mus musculus (Mouse) | SS |
| O08638 | Myh11 | Myosin-11 | Mus musculus (Mouse) | SS |
| A2AQP0 | Myh7b | Myosin-7B | Mus musculus (Mouse) | SS |
| Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
| Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
| P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
| Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
| Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
| Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
| P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
| P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
| P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
| Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
| Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
| Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
| P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
| P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
| P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
| P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
| P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDSEMAVFG | AAAPYLRKSE | KERLEAQTRP | FDLKKDVFVP | DDKQEFVKAK | IVSREGGKVT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AETEYGKTVT | VKEDQVMQQN | PPKFDKIEDM | AMLTFLHEPA | VLYNLKDRYG | SWMIYTYSGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FCVTVNPYKW | LPVYTPEVVA | AYRGKKRSEA | PPHIFSISDN | AYQYMLTDRE | NQSILITGES |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAGKTVNTKR | VIQYFAVIAA | IGDRSKKDQS | PGKGTLEDQI | IQANPALEAF | GNAKTVRNDN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSRFGKFIRI | HFGATGKLAS | ADIETYLLEK | SRVIFQLKAE | RDYHIFYQIL | SNKKPELLDM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLITNNPYDY | AFISQGETTV | ASIDDAEELM | ATDNAFDVLG | FTSEEKNSMY | KLTGAIMHFG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NMKFKLKQRE | EQAEPDGTEE | ADKSAYLMGL | NSADLLKGLC | HPRVKVGNEY | VTKGQNVQQV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IYATGALAKA | VYERMFNWMV | TRINATLETK | QPRQYFIGVL | DIAGFEIFDF | NSFEQLCINF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TNEKLQQFFN | HHMFVLEQEE | YKKEGIEWTF | IDFGMDLQAC | IDLIEKPMGI | MSILEEECMF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PKATDMTFKA | KLFDNHLGKS | ANFQKPRNIK | GKPEAHFSLI | HYAGIVDYNI | IGWLQKNKDP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LNETVVGLYQ | KSSLKLLSTL | FANYAGADAP | IEKGKGKAKK | GSSFQTVSAL | HRENLNKLMT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NLRSTHPHFV | RCIIPNETKS | PGVMDNPLVM | HQLRCNGVLE | GIRICRKGFP | NRILYGDFRQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RYRILNPAAI | PEGQFIDSRK | GAEKLLSSLD | IDHNQYKFGH | TKVFFKAGLL | GLLEEMRDER |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LSRIITRIQA | QSRGVLARME | YKKLLERRDS | LLVIQWNIRA | FMGVKNWPWM | KLYFKIKPLL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KSAEREKEMA | SMKEEFTRLK | EALEKSEARR | KELEEKMVSL | LQEKNDLQLQ | VQAEQDNLAD |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AEERCDQLIK | NKIQLEAKVK | EMNERLEDEE | EMNAELTAKK | RKLEDECSEL | KRDIDDLELT |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LAKVEKEKHA | TENKVKNLTE | EMAGLDEIIA | KLTKEKKALQ | EAHQQALDDL | QAEEDKVNTL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TKAKVKLEQQ | VDDLEGSLEQ | EKKVRMDLER | AKRKLEGDLK | LTQESIMDLE | NDKQQLDERL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KKKDFELNAL | NARIEDEQAL | GSQLQKKLKE | LQARIEELEE | ELEAERTARA | KVEKLRSDLS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| RELEEISERL | EEAGGATSVQ | IEMNKKREAE | FQKMRRDLEE | ATLQHEATAA | ALRKKHADSV |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| AELGEQIDNL | QRVKQKLEKE | KSEFKLELDD | VTSNMEQIIK | AKANLEKMCR | TLEDQMNEHR |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| SKAEETQRSV | NDLTSQRAKL | QTENGELSRQ | LDEKEALISQ | LTRGKLTYTQ | QLEDLKRQLE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| EEVKAKNALA | HALQSARHDC | DLLREQYEEE | TEAKAELQRV | LSKANSEVAQ | WRTKYETDAI |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| QRTEELEEAK | KKLAQRLQEA | EEAVEAVNAK | CSSLEKTKHR | LQNEIEDLMV | DVERSNAAAA |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| ALDKKQRNFD | KILAEWKQKY | EESQSELESS | QKEARSLSTE | LFKLKNAYEE | SLEHLETFKR |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| ENKNLQEEIS | DLTEQLGSSG | KTIHELEKVR | KQLEAEKMEL | QSALEEAEAS | LEHEEGKILR |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| AQLEFNQIKA | EIERKLAEKD | EEMEQAKRNH | LRVVDSLQTS | LDAETRSRNE | ALRVKKKMEG |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| DLNEMEIQLS | HANRMAAEAQ | KQVKSLQSLL | KDTQIQLDDA | VRANDDLKEN | IAIVERRNNL |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| LQAELEELRA | VVEQTERSRK | LAEQELIETS | ERVQLLHSQN | TSLINQKKKM | DADLSQLQTE |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| VEEAVQECRN | AEEKAKKAIT | DAAMMAEELK | KEQDTSAHLE | RMKKNMEQTI | KDLQHRLDEA |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| EQIALKGGKK | QLQKLEARVR | ELENELEAEQ | KRNAESVKGM | RKSERRIKEL | TYQTEEDRKN |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| LLRLQDLVDK | LQLKVKAYKR | QAEEAEEQAN | TNLSKFRKVQ | HELDEAEERA | DIAESQVNKL |
| 1930 | |||||
| RAKSRDIGTK | GLNEE |