P20594
PR
Gene name |
NPR2 (ANPRB) |
Protein name |
Atrial natriuretic peptide receptor 2 |
Names |
Atrial natriuretic peptide receptor type B, ANP-B, ANPR-B, NPR-B, Guanylate cyclase B, GC-B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4882 |
EC number |
4.6.1.2: Phosphorus-oxygen lyases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P20594
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P20594-F1 | Predicted | AlphaFoldDB |
698 variants for P20594
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs749952755 RCV001260934 |
5 | S>* | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
CA200453 RCV000173314 RCV000952311 rs140014632 RCV000768034 |
22 | A>S | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001346394 rs1827813477 |
22 | A>V | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000019362 CA250692 rs28931581 VAR_022583 |
32 | P>T | Acromesomelic dysplasia 1, Maroteaux type AMD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs886063909 CA10627306 RCV000333349 |
33 | E>A | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1827817304 RCV001218352 |
52 | A>D | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_074678 CA204428 rs796065355 RCV000190429 |
76 | S>P | Short stature with nonspecific skeletal abnormalities SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; loss of localization to the plasma membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001294625 rs1349881219 |
88 | K>T | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753644648 CA373363024 RCV000856598 |
100 | G>S | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_074679 rs758478717 CA204432 RCV001781561 RCV000190431 RCV001263517 RCV001857670 |
110 | R>C | Acromesomelic dysplasia 1, Maroteaux type Short stature with nonspecific skeletal abnormalities SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; retained in the endoplasmic reticulum [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001260933 rs1827825533 |
110 | R>H | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_022584 CA250693 RCV000019363 rs28931582 |
115 | W>G | Acromesomelic dysplasia 1, Maroteaux type AMD1; markedly deficient activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001263519 rs1827828857 |
141 | R>H | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781334893 RCV001253507 RCV001859192 CA5051456 RCV001197478 |
165 | R>H | Acromesomelic dysplasia 1, Maroteaux type Short stature with nonspecific skeletal abnormalities [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA250694 rs28929479 RCV000019364 VAR_022585 |
176 | D>E | Acromesomelic dysplasia 1, Maroteaux type AMD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057519335 CA16044040 RCV000416349 |
187 | V>D | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000315791 RCV000946345 CA5051478 rs191155989 |
217 | I>F | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1285934866 RCV000988184 CA373365822 |
218 | R>Q | Acromesomelic dysplasia 1, Maroteaux type Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs746376766 RCV001340432 CA5051480 |
218 | R>W | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1440373349 RCV001298442 CA373365863 RCV001261880 |
221 | G>R | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs770808236 CA5051504 RCV000652335 |
234 | H>R | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5051505 RCV000375004 RCV002524598 RCV001230881 rs774099913 |
242 | R>K | Acromesomelic dysplasia 1, Maroteaux type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1827867580 RCV001263531 |
250 | Y>missing | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
CA373367165 RCV001301270 rs1243598210 RCV001595075 |
250 | Y>C | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16043443 rs757744435 RCV000414841 |
260 | E>V | Craniosynostosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139036657 CA5051510 RCV001358437 RCV001348167 |
263 | R>H | Acromesomelic dysplasia 1, Maroteaux type Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA204430 RCV000190430 VAR_074681 RCV002514080 rs139036657 |
263 | R>P | Acromesomelic dysplasia 1, Maroteaux type Short stature with nonspecific skeletal abnormalities SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; loss of localization to the plasma membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002491338 RCV000622943 RCV001049354 RCV001796144 RCV001168607 CA5051522 rs770531192 |
277 | N>S | Acromesomelic dysplasia 1, Maroteaux type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001168608 CA5051523 rs114995755 |
278 | R>H | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs886063911 RCV000266103 CA10633969 |
285 | A>T | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001263518 rs915823109 |
289 | A>D | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_022586 CA373369142 rs1313765432 |
297 | T>M | AMD1; markedly deficient activity [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV001296868 rs144940095 CA5051559 |
318 | R>Q | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003132246 RCV001873559 rs764711038 CA5051558 RCV001168609 |
318 | R>W | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_022587 rs1828087195 RCV001263097 |
338 | Y>C | Acromesomelic dysplasia 1, Maroteaux type AMD1 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1588057922 CA373369837 RCV000985134 |
344 | Y>* | Epilepsy, familial focal, with variable foci 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1828089061 RCV001248807 |
348 | L>P | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255257 RCV000190426 RCV001385132 RCV000190427 |
364 | I>missing | Acromesomelic dysplasia 1, Maroteaux type Short stature with nonspecific skeletal abnormalities [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217004 rs1828095529 |
375 | G>R | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001385133 RCV000019365 rs121912739 CA250695 |
388 | R>* | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1828106198 RCV001261879 |
388 | R>Q | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1828106743 RCV001253731 |
394 | L>F | Tall stature-scoliosis-macrodactyly of the great toes syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5051626 RCV001248019 rs758564951 |
400 | L>V | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001264761 rs1828107536 |
406 | Q>missing | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_022588 | 409 | A>T | AMD1 [UniProt] | Yes | UniProt |
| VAR_022589 | 413 | G>E | AMD1; markedly deficient activity [UniProt] | Yes | UniProt |
|
RCV002514081 rs796065356 RCV000190432 VAR_074682 CA204434 |
417 | Q>E | Acromesomelic dysplasia 1, Maroteaux type Short stature with nonspecific skeletal abnormalities SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; no effect on cell surface expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs796065356 CA373370997 RCV001293679 |
417 | Q>K | Short stature with nonspecific skeletal abnormalities [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5051646 RCV001214587 rs766433291 |
423 | R>Q | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA373371237 rs778410447 RCV000707442 |
438 | P>H | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5051652 rs778410447 RCV001046360 |
438 | P>L | Acromesomelic dysplasia 1, Maroteaux type Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10627307 RCV000380355 rs886063912 |
468 | I>S | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000416343 rs1057519324 RCV001572044 RCV001262820 CA16044039 |
479 | R>* | Acromesomelic dysplasia 1, Maroteaux type Short stature with nonspecific skeletal abnormalities [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA170077 VAR_071875 rs587777597 RCV000132562 |
488 | A>P | Tall stature-scoliosis-macrodactyly of the great toes syndrome ECDM; mutant and wild-type alleles have similar expression levels; the mutation results in increased guanylate cyclase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001045867 rs114115939 CA5051712 |
506 | R>H | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001218351 rs1828173261 |
516 | T>I | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338924 rs1828184008 |
530 | A>D | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5051770 RCV001222851 rs138315850 |
546 | N>Y | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751324720 RCV001261881 CA5051778 RCV001302840 |
558 | I>T | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000728874 RCV001345857 CA5051780 rs566096931 |
562 | R>W | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1057519334 RCV000416331 |
585 | A>* | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003106040 CA373374828 rs1563988849 RCV000728870 |
601 | R>C | Acromesomelic dysplasia 1, Maroteaux type Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001348302 rs180950551 CA5051814 |
601 | R>H | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001166428 CA373374840 rs180950551 RCV001859083 |
601 | R>L | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001343671 rs951956774 CA192768829 |
613 | I>M | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1828223846 RCV001319063 |
615 | L>W | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001760291 rs202053091 RCV001249316 CA5051856 |
641 | S>L | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000132561 COSM1701076 COSM1701075 rs587777596 CA170076 VAR_071876 |
655 | R>C | skin Tall stature-scoliosis-macrodactyly of the great toes syndrome ECDM; the mutation results in increased guanylate cyclase activity [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
VAR_076481 CA373376715 rs1314542724 |
658 | L>F | AMD1; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity; loss of natriuretic peptide receptor activity; dominant negative effect [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV002066177 rs200129431 CA5051900 |
702 | M>K | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_022590 CA373378444 rs1305337032 |
708 | Y>C | AMD1; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
rs1828356952 RCV001263532 |
715 | Q>* | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760946888 RCV001303062 CA5051904 |
717 | I>T | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057518817 RCV000415200 |
721 | S>missing | Craniosynostosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs567992526 RCV001253681 CA5051921 |
749 | R>Q | Short stature with nonspecific skeletal abnormalities [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001166430 rs114207425 CA5051924 |
751 | S>N | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs763488261 COSM3848520 CA5051927 RCV000347047 COSM3848519 |
754 | R>Q | Acromesomelic dysplasia 1, Maroteaux type Variant assessed as Somatic; 0.0 impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs371968545 CA5051925 RCV000792814 |
754 | R>W | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001255361 RCV001253230 rs1828368702 |
756 | Q>* | Intellectual disability Tall stature-scoliosis-macrodactyly of the great toes syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293708 rs753472316 RCV002241666 CA373379126 |
767 | R>* | Acromesomelic dysplasia 1, Maroteaux type Variant assessed as Somatic; 0.0 impact. Short stature with nonspecific skeletal abnormalities [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA16044042 rs1057519333 RCV000416364 |
768 | C>R | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs369154896 CA5051936 RCV000513739 RCV001050909 |
774 | A>V | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001166431 RCV000328406 rs780293535 CA5051937 RCV001300728 |
776 | R>Q | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA373379257 VAR_022591 rs1303913631 |
776 | R>W | AMD1; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
rs771399009 RCV001166432 RCV001338330 CA5051945 |
784 | G>D | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000952008 RCV001166960 rs114147262 CA5051948 |
787 | R>W | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5051950 rs761484215 RCV001339247 |
788 | R>C | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5051969 rs764876586 RCV001349035 RCV003169715 |
810 | N>S | Acromesomelic dysplasia 1, Maroteaux type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001362476 RCV000190428 rs766256429 CA204426 VAR_074683 |
819 | R>C | Acromesomelic dysplasia 1, Maroteaux type Short stature with nonspecific skeletal abnormalities SNSK; loss of C-type natriuretic peptide-induced signaling; dominant negative effect; no effect on cell surface expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001008619 RCV001860592 rs1588068987 |
843 | A>missing | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
CA373380918 RCV001051659 rs1245545691 |
854 | A>S | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001295789 CA192771674 rs1012739989 |
877 | S>G | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000652336 rs55700371 RCV001198873 VAR_042220 CA5052037 COSM293315 |
882 | V>I | Acromesomelic dysplasia 1, Maroteaux type Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_071877 | 882 | V>M | ECDM; the mutation results in higher guanylate cyclase activity; causes a 15-fold increase in basal Vmax; has higher affinity for GTP than wild-type in the presence of NPPC; might lead to a structural change that locks the enzyme in a conformation mimicking the ATP-bound state [UniProt] | Yes | UniProt |
|
rs587777595 RCV000132560 CA170074 |
883 | V>M | Tall stature-scoliosis-macrodactyly of the great toes syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1357724443 CA373384672 RCV000784968 |
905 | V>L | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM3664348 RCV002283524 COSM3664347 RCV001597245 RCV001262118 CA373384753 RCV001385134 rs1311857509 |
907 | T>M | Acromesomelic dysplasia 1, Maroteaux type liver Variant assessed as Somatic; impact. Short stature with nonspecific skeletal abnormalities [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA241195 rs369313283 RCV000175437 RCV001319753 |
908 | I>T | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA373384949 rs1554674642 RCV000521525 RCV001851496 |
921 | R>* | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781398693 COSM1217725 RCV000390082 CA5052134 RCV001850938 |
945 | R>C | Acromesomelic dysplasia 1, Maroteaux type Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5052138 RCV001168676 rs145008570 RCV001859092 |
947 | R>H | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs145008570 RCV001064788 CA5052139 |
947 | R>P | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_022592 CA192773213 rs370158184 |
957 | R>C | AMD1 [UniProt] | Yes |
ClinGen UniProt ESP dbSNP gnomAD |
|
rs1828565145 RCV001264759 |
957 | R>H | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_022593 | 959 | G>A | AMD1; no effect on subcellular location; changed glycosylation; no effect on C-type natriuretic peptide binding; decreased guanylate cyclase activity [UniProt] | Yes | UniProt |
|
rs1057519336 CA16044043 RCV000416371 |
982 | D>N | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985136 RCV002469165 rs771373457 RCV000480765 CA16618861 |
989 | R>L | Epilepsy, familial focal, with variable foci 2 NPR2-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1108820 CA5052162 rs771373457 RCV001805952 RCV000985135 COSM1598327 |
989 | R>Q | Epilepsy, familial focal, with variable foci 2 Acromesomelic dysplasia 1, Maroteaux type Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001262119 rs1828609114 |
1010 | D>G | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1108822 COSM1598325 RCV001283791 CA5052188 rs770815149 |
1020 | R>Q | Epilepsy, familial focal, with variable foci 2 Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1828636535 RCV001348515 |
1035 | W>C | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001263098 rs1828637001 |
1038 | G>missing | Acromesomelic dysplasia 1, Maroteaux type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs961345204 CA192760485 |
2 | A>T | No |
ClinGen TOPMed |
|
|
rs985571248 CA192760500 |
4 | P>L | No |
ClinGen TOPMed |
|
|
rs749952755 CA5051389 |
5 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA373361128 rs1167035345 |
12 | A>G | No |
ClinGen gnomAD |
|
|
rs765872359 CA5051391 |
12 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs765872359 CA192760507 |
12 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1463201021 CA373361166 |
14 | A>V | No |
ClinGen gnomAD |
|
|
CA373361196 rs1393795657 |
16 | G>E | No |
ClinGen gnomAD |
|
|
rs1298404303 CA373361217 |
17 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5051394 rs781081563 |
17 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041113337 CA192760554 |
18 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5051396 rs756091299 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747857824 CA5051395 |
19 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777786340 CA5051397 |
20 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA373361265 rs1228691213 |
21 | G>R | No |
ClinGen TOPMed |
|
|
CA373361297 rs1263762640 |
23 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1263762640 CA373361300 |
23 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373361351 rs1227290353 |
26 | T>M | No |
ClinGen TOPMed |
|
|
rs746138473 CA5051400 |
28 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs74868000 CA192760632 |
29 | V>G | No |
ClinGen Ensembl |
|
|
rs1588050041 CA373361394 |
30 | V>G | No |
ClinGen Ensembl |
|
|
rs28931581 CA373361406 |
32 | P>A | No |
ClinGen Ensembl |
|
|
CA5051404 rs764593059 |
34 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1290639649 CA373361450 |
34 | H>Y | No |
ClinGen gnomAD |
|
|
CA373361652 rs1258275667 |
43 | P>T | No |
ClinGen gnomAD |
|
|
CA373361683 rs1588050104 |
45 | V>E | No |
ClinGen Ensembl |
|
|
CA373361696 rs1308820608 |
46 | G>E | No |
ClinGen TOPMed |
|
|
RCV000490251 rs1085308030 CA373361725 |
47 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA373361750 rs1291088275 |
48 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373361748 rs1291088275 |
48 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5051407 rs765925496 |
51 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5051408 rs751040203 |
55 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5051409 rs754690811 |
57 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458860778 CA373361975 |
57 | G>S | No |
ClinGen gnomAD |
|
|
rs752540860 CA5051411 |
58 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192760671 rs752540860 RCV000519551 |
58 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs767019654 CA5051410 |
58 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs755927876 CA5051412 |
59 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1255743426 CA373362061 |
62 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA373362116 rs1161458774 |
65 | R>L | No |
ClinGen gnomAD |
|
|
CA192760706 rs906456007 |
65 | R>W | No |
ClinGen gnomAD |
|
|
rs1253030996 CA373362174 |
68 | S>G | No |
ClinGen TOPMed |
|
|
rs3729730 CA192760709 |
68 | S>N | No |
ClinGen Ensembl |
|
|
rs61758516 CA192760713 |
70 | E>Q | No |
ClinGen Ensembl |
|
|
CA5051416 rs779161200 |
71 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs745882275 CA5051417 |
74 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM455932 CA373362449 COSM455931 rs1289231317 |
76 | S>C | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA373362436 rs796065355 |
76 | S>T | No |
ClinGen TOPMed |
|
|
CA373362485 rs1588050275 |
78 | Y>N | No |
ClinGen Ensembl |
|
|
CA5051420 rs376736547 |
82 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333458988 CA373362618 |
83 | S>C | No |
ClinGen gnomAD |
|
|
CA192760730 rs3729731 |
83 | S>I | No |
ClinGen Ensembl |
|
|
rs1238734284 CA373362626 |
83 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA373362633 rs1349595520 |
84 | A>T | No |
ClinGen TOPMed |
|
|
rs1280994313 CA373362674 |
85 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349881219 CA373362743 |
88 | K>R | No |
ClinGen gnomAD |
|
|
CA5051421 rs769069525 |
89 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5051423 rs762350474 |
90 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5051425 rs773934765 |
93 | P>S | No |
ClinGen ExAC |
|
|
CA5051426 rs369590513 |
94 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760351665 CA5051429 |
97 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5051430 rs764017273 |
99 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753644648 CA5051431 |
100 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA373363105 rs1419028234 |
103 | Y>H | No |
ClinGen TOPMed |
|
|
rs1588050431 CA373363111 |
103 | Y>S | No |
ClinGen Ensembl |
|
|
rs778932244 CA5051433 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM273022 rs1373177985 CA373363190 |
106 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA192760769 rs1051968083 |
108 | V>A | No |
ClinGen TOPMed |
|
|
CA373363273 rs1184745327 |
111 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 116 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208873761 COSM313338 CA373363390 |
116 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs147291944 CA192760785 |
119 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563983343 CA373363455 |
121 | T>I | No |
ClinGen Ensembl |
|
|
rs748462929 CA5051440 |
122 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs773658385 CA5051442 |
123 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs763502307 CA5051443 |
123 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5051444 rs771529504 |
130 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA373363730 rs1266719825 |
134 | D>N | No |
ClinGen TOPMed |
|
|
CA192760797 rs115064396 |
137 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA373363822 rs115064396 |
137 | R>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1213090151 CA373363804 |
137 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 138 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396002750 CA373363882 |
141 | R>C | No |
ClinGen gnomAD |
|
|
rs1362485782 CA373363976 |
145 | S>T | No |
ClinGen gnomAD |
|
|
CA5051448 rs753695561 |
150 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA373364218 rs1563983411 |
154 | V>L | No |
ClinGen Ensembl |
|
|
CA373364271 rs1317588933 |
156 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5051451 rs780448567 |
158 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780448567 CA192760811 |
158 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051452 rs758337726 |
159 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA5051453 rs202085166 |
161 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373364489 rs1277084795 |
163 | T>I | No |
ClinGen gnomAD |
|
|
rs62637657 CA5051455 |
164 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5051454 rs62637657 |
164 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200256956 CA192760833 |
164 | A>S | No |
ClinGen Ensembl |
|
|
rs62637657 CA192760840 |
164 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA192760846 rs995457759 |
165 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA373364514 rs995457759 |
165 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373364592 rs1563983455 |
169 | L>V | No |
ClinGen Ensembl |
|
|
rs866010799 CA192760869 |
172 | D>N | No |
ClinGen Ensembl |
|
|
CA192760875 rs376412987 |
173 | A>S | No |
ClinGen Ensembl |
|
|
CA5051457 rs748364573 |
174 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA373364699 rs748364573 |
174 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 174 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373364831 rs770202059 |
178 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA5051458 rs770202059 |
178 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771425603 CA5051461 |
184 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373364994 rs1163388238 |
184 | I>V | No |
ClinGen gnomAD |
|
|
CA5051464 VAR_074680 rs768423636 |
187 | V>I | does not affect C-type natriuretic peptide-induced signaling [UniProt] | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA5051465 rs201417165 |
193 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1227824025 CA373365368 |
195 | N>K | No |
ClinGen gnomAD |
|
|
rs761548470 CA5051466 |
195 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764993090 CA5051467 |
197 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192760962 rs959636453 |
197 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5051468 rs773032517 |
199 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs766293488 CA5051470 |
204 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5051471 rs186005212 |
204 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1180840764 CA373365629 |
205 | R>G | No |
ClinGen gnomAD |
|
|
CA192760977 rs985602541 |
205 | R>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 205 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767570311 CA5051473 |
209 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5051474 rs114783400 |
209 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756296820 CA5051475 |
210 | P>H | No |
ClinGen ExAC |
|
|
CA5051476 rs201027721 |
211 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200830983 CA192760987 |
211 | E>V | No |
ClinGen 1000Genomes |
|
|
CA5051477 rs749613619 |
212 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977025873 CA192761005 |
213 | A>T | No |
ClinGen gnomAD |
|
|
CA5051481 rs151336675 |
219 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5051482 rs776260822 |
222 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA373365882 rs1233051153 |
222 | R>H | No |
ClinGen gnomAD |
|
|
rs746430224 CA5051497 |
223 | I>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464254926 CA373366679 |
224 | V>M | No |
ClinGen gnomAD |
|
|
rs1395276029 CA373366719 |
226 | I>N | No |
ClinGen gnomAD |
|
|
rs758946221 CA5051498 |
226 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5051500 rs747613650 |
228 | G>D | No |
ClinGen ExAC |
|
|
rs1322183461 CA373366747 |
228 | G>S | No |
ClinGen gnomAD |
|
|
rs529018569 CA5051501 |
230 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
VAR_042219 CA192762919 rs55747238 |
232 | M>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA5051502 rs772855700 |
232 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770808236 CA373366854 |
234 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373366842 rs1319643121 |
234 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192762929 rs1036200556 |
242 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs759498964 CA5051506 COSM283344 |
243 | E>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5051507 rs756998921 |
247 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193711026 CA373367088 |
247 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 248 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279178017 CA373367169 |
250 | Y>* | No |
ClinGen gnomAD |
|
|
rs1031104361 CA192762944 |
254 | Y>H | No |
ClinGen TOPMed |
|
|
rs1418801040 CA373367423 |
259 | G>A | No |
ClinGen gnomAD |
|
|
rs757744435 CA192762953 |
260 | E>G | No |
ClinGen Ensembl |
|
|
CA373367477 rs1205239254 |
261 | S>I | No |
ClinGen TOPMed |
|
|
CA5051509 rs775557668 |
263 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5051511 rs764072797 |
265 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1383265272 CA373367559 |
265 | G>V | No |
ClinGen gnomAD |
|
|
CA5051513 rs761921881 |
267 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs750781508 CA5051515 |
268 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373367675 rs1379866182 |
270 | T>I | No |
ClinGen TOPMed |
|
|
rs61758519 CA373367700 |
272 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752154441 CA5051518 COSM1734356 COSM1734355 |
272 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM3848511 rs61758519 COSM3848512 CA5051517 |
272 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA192762983 rs768101143 |
273 | P>L | No |
ClinGen Ensembl |
|
|
rs755718353 CA5051519 |
274 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs777123865 CA5051520 |
276 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373367795 rs1288009295 |
277 | N>D | No |
ClinGen gnomAD |
|
|
CA373367818 rs1192585936 |
278 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs750846692 CA192763013 |
279 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs771997028 CA5051526 |
280 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192763033 rs920376052 COSM334940 |
280 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5051525 rs771997028 |
280 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051527 rs371946199 |
282 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373367929 rs1359144678 |
284 | Q>* | No |
ClinGen gnomAD |
|
|
rs768832746 CA5051528 |
284 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs765509984 CA5051532 |
288 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765509984 CA5051531 |
288 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373368047 rs1355769917 |
288 | E>K | No |
ClinGen gnomAD |
|
|
CA192763078 rs915823109 |
289 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763342263 CA5051533 |
291 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA192765120 rs889615587 |
296 | I>V | No |
ClinGen Ensembl |
|
|
CA373369152 rs1255635522 |
299 | R>* | No |
ClinGen gnomAD |
|
|
rs1481073248 CA373369153 |
299 | R>Q | No |
ClinGen gnomAD |
|
|
CA373369171 rs1236394937 |
302 | P>S | No |
ClinGen gnomAD |
|
|
CA373369183 rs1457745304 |
303 | N>S | No |
ClinGen gnomAD |
|
|
rs763255852 CA5051551 |
307 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM186447 rs766889818 CA5051552 |
312 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs774537988 CA5051553 |
312 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA373369352 rs1332839403 |
315 | I>T | No |
ClinGen gnomAD |
|
|
rs753389361 CA5051556 |
315 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5051557 rs368830314 |
317 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1300325335 CA373369429 |
320 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 321 | F>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308339080 CA373369453 |
322 | G>C | No |
ClinGen gnomAD |
|
|
rs779933560 CA5051561 |
322 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308339080 CA373369449 |
322 | G>S | No |
ClinGen gnomAD |
|
|
CA373369482 rs1317406534 |
324 | E>Q | No |
ClinGen gnomAD |
|
|
CA373369503 rs1368356207 |
325 | L>P | No |
ClinGen TOPMed |
|
|
CA373369528 rs1164737099 |
327 | P>R | No |
ClinGen TOPMed |
|
|
CA5051584 rs778020322 |
330 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051583 rs778020322 |
330 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464170906 CA373369632 |
331 | N>D | No |
ClinGen TOPMed |
|
|
CA373369656 rs1199446417 |
332 | L>F | No |
ClinGen TOPMed |
|
|
rs1296101280 CA373369696 |
334 | A>T | No |
ClinGen gnomAD |
|
|
rs1377100654 CA373369795 |
342 | L>V | No |
ClinGen gnomAD |
|
|
rs1049474634 CA192765244 |
344 | Y>H | No |
ClinGen Ensembl |
|
|
rs1235772555 CA373369862 |
346 | E>Q | No |
ClinGen gnomAD |
|
|
rs1308349252 CA373369889 |
347 | V>A | No |
ClinGen gnomAD |
|
|
CA373369964 rs1356402204 |
352 | I>V | No |
ClinGen gnomAD |
|
|
CA5051593 rs772725792 |
357 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051595 rs375970096 |
358 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140870470 CA5051594 |
358 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471526299 CA373370111 |
360 | D>N | No |
ClinGen gnomAD |
|
|
rs751229207 CA5051596 |
361 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051597 rs759207364 |
362 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1108795 CA5051598 COSM1108794 rs767258629 |
363 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5051600 rs554019454 |
363 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554019454 CA5051599 COSM2774846 COSM2774845 |
363 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1040860096 CA192765262 |
364 | I>T | No |
ClinGen Ensembl |
|
|
rs1447414752 CA373370202 |
365 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 368 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753822520 CA5051603 |
368 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1277713665 CA373370283 |
369 | Q>E | No |
ClinGen TOPMed |
|
|
CA373370308 rs1418410058 |
370 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5051605 rs779025695 |
370 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373370317 rs1309103350 |
371 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5051606 rs144675513 |
372 | R>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1222501476 CA373370488 |
376 | V>I | No |
ClinGen gnomAD |
|
|
CA373370510 rs1588058368 |
377 | T>N | No |
ClinGen Ensembl |
|
|
CA373370518 rs1085307906 RCV000489591 |
378 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5051622 rs763963978 |
380 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051623 rs368930674 |
381 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA192765348 rs368930674 |
381 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373370566 rs1196141719 |
384 | K>R | No |
ClinGen gnomAD |
|
|
CA5051625 rs747731734 |
389 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA192765352 rs931006759 |
390 | T>A | No |
ClinGen Ensembl |
|
|
rs1477544632 CA373370702 |
396 | A>T | No |
ClinGen gnomAD |
|
|
CA373370715 rs1222379811 |
397 | M>V | No |
ClinGen TOPMed |
|
|
rs1360876530 CA373370749 |
399 | D>G | No |
ClinGen TOPMed |
|
|
CA5051627 rs780187546 |
401 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1464143400 CA373370797 |
403 | G>R | No |
ClinGen gnomAD |
|
|
CA373370885 rs1390562991 |
407 | P>T | No |
ClinGen gnomAD |
|
|
CA373370911 rs1420712837 |
409 | A>V | No |
ClinGen gnomAD |
|
|
CA5051639 rs760376888 |
410 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764017328 CA5051640 |
412 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575052079 CA192765460 |
414 | A>D | No |
ClinGen Ensembl |
|
|
CA373370993 rs1340579773 |
416 | K>N | No |
ClinGen gnomAD |
|
|
CA373371026 rs1282365060 |
419 | W>* | No |
ClinGen gnomAD |
|
|
rs1276742633 CA373371046 |
421 | T>A | No |
ClinGen gnomAD |
|
|
CA5051643 rs140361919 |
421 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373371054 rs1287850400 |
422 | G>R | No |
ClinGen gnomAD |
|
|
CA5051645 rs143599560 |
423 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs976478088 CA192765483 |
424 | P>S | No |
ClinGen Ensembl |
|
|
rs1185438999 CA373371166 |
432 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756582549 COSM1217733 COSM1217732 CA5051651 |
434 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA373371209 rs1419436726 |
436 | N>D | No |
ClinGen gnomAD |
|
|
rs1287925826 CA373371214 |
436 | N>S | No |
ClinGen gnomAD |
|
|
rs778410447 CA373371238 |
438 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 439 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381998030 CA373371294 |
442 | D>G | No |
ClinGen gnomAD |
|
|
rs1331619875 CA373371286 |
442 | D>N | No |
ClinGen gnomAD |
|
|
rs775106580 CA5051655 |
445 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 446 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256826878 CA373371374 |
449 | D>G | No |
ClinGen gnomAD |
|
|
rs552757821 CA192765519 |
449 | D>Y | No |
ClinGen gnomAD |
|
|
rs370990768 CA5051671 |
452 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754405138 CA5051670 |
452 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746462699 CA5051673 |
456 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373371473 rs1269882442 |
457 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA373371471 rs1192176885 |
457 | A>S | No |
ClinGen gnomAD |
|
|
CA373371472 rs1192176885 |
457 | A>T | No |
ClinGen gnomAD |
|
|
rs756087597 CA5051675 |
458 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051674 rs570890949 |
458 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs986100379 CA192765767 |
464 | G>E | No |
ClinGen TOPMed |
|
|
rs886042851 RCV000331647 |
465 | I>missing | No |
ClinVar dbSNP |
|
|
CA5051676 rs747747234 |
466 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA373371600 rs1352762529 |
468 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs772852755 CA5051678 |
469 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293948745 CA373371608 |
469 | M>T | No |
ClinGen gnomAD |
|
|
rs769679194 CA5051677 |
469 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA373371719 rs1282894007 |
478 | F>L | No |
ClinGen gnomAD |
|
|
CA192765811 rs1017960696 |
479 | R>Q | No |
ClinGen gnomAD |
|
|
CA5051703 rs775388822 |
480 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415954212 CA373372141 |
483 | L>P | No |
ClinGen gnomAD |
|
|
CA192767958 rs1048438857 |
485 | K>E | No |
ClinGen Ensembl |
|
|
CA192767964 rs587777597 |
488 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA373372353 rs956477924 |
490 | M>K | No |
ClinGen gnomAD |
|
|
CA192767965 rs956477924 |
490 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764163202 CA5051705 |
493 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA192767980 rs762074063 |
493 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1436133890 CA373372469 |
495 | R>C | No |
ClinGen TOPMed |
|
|
CA373372475 rs1344772039 |
495 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA373372481 rs1344772039 |
495 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373372478 rs1344772039 |
495 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1194975898 CA373372487 |
496 | W>R | No |
ClinGen Ensembl |
|
|
CA373372522 rs1344938222 |
497 | E>G | No |
ClinGen TOPMed |
|
|
rs1028622759 CA192768008 |
501 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 504 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765684562 CA5051708 |
504 | S>A | No |
ClinGen ExAC |
|
|
CA5051711 rs114330365 |
506 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA373372723 rs1210253875 |
507 | Y>H | No |
ClinGen gnomAD |
|
|
CA373372750 rs1238676358 |
508 | H>D | No |
ClinGen gnomAD |
|
|
rs565266558 CA192768042 |
514 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777466300 CA5051715 |
514 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5051717 rs757089428 |
518 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370299485 CA192768166 |
520 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1462304 CA373373062 rs1563988222 COSM1462303 |
520 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1266923625 CA373373081 |
521 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 521 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171466410 CA373373134 |
524 | Y>N | No |
ClinGen gnomAD |
|
|
CA5051736 rs756858649 |
526 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA5051739 rs758360086 |
527 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA373373269 rs1253032007 |
528 | M>I | No |
ClinGen TOPMed |
|
|
rs779920108 CA5051740 |
528 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs746954271 CA5051742 |
529 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1214117239 CA373373302 |
529 | T>I | No |
ClinGen TOPMed |
|
|
rs746954271 CA5051741 |
529 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1341447576 CA373373306 |
530 | A>T | No |
ClinGen gnomAD |
|
|
rs1314723602 CA373373343 |
531 | H>R | No |
ClinGen TOPMed |
|
|
CA373373372 rs1588060703 |
532 | G>E | No |
ClinGen Ensembl |
|
|
rs763163290 CA5051747 |
539 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5051748 rs771311110 |
539 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5051751 rs369386073 |
541 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5051750 rs369386073 |
541 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1108802 CA5051773 COSM1108803 rs774161439 |
549 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA373373825 rs960638155 |
552 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs960638155 CA192768447 |
552 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373373920 rs1240528940 |
557 | R>C | No |
ClinGen gnomAD |
|
|
COSM753475 COSM753474 CA5051777 rs766118843 |
557 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5051779 rs751324720 |
558 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA373373959 rs1381428453 |
559 | E>G | No |
ClinGen TOPMed |
|
|
CA373374002 rs1204671832 |
561 | T>I | No |
ClinGen gnomAD |
|
|
rs1204671832 CA373374005 |
561 | T>N | No |
ClinGen gnomAD |
|
|
CA373374038 rs1461872898 |
563 | Q>H | No |
ClinGen TOPMed |
|
|
CA5051782 rs756307894 |
570 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 571 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373374293 RCV000520346 rs1554673485 |
572 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA373374309 rs1470699338 |
573 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5051800 rs759474693 |
577 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051801 rs767409259 |
578 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs767409259 CA373374421 |
578 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5051802 rs752719844 |
579 | L>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000493917 rs1131692010 CA373374461 |
580 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5051804 rs374250772 |
581 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374250772 CA5051803 |
581 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200645852 CA5051805 |
581 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5051806 rs757424970 |
583 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA192768693 rs746601736 |
585 | A>T | No |
ClinGen gnomAD |
|
|
rs1588061692 CA373374539 |
585 | A>V | No |
ClinGen Ensembl |
|
|
CA373374570 rs1282716435 |
587 | I>V | No |
ClinGen gnomAD |
|
|
rs746074836 CA5051808 |
588 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5051809 rs758809990 |
589 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1480525288 CA373374665 |
591 | N>K | No |
ClinGen gnomAD |
|
|
rs557573284 CA5051811 |
592 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1290363739 CA373374685 |
592 | I>T | No |
ClinGen TOPMed |
|
|
CA192768697 rs557573284 |
592 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373374724 rs1563988827 |
594 | I>N | No |
ClinGen Ensembl |
|
|
CA5051812 rs769159553 |
595 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1481211414 CA373374744 |
596 | T>A | No |
ClinGen gnomAD |
|
|
CA373374861 rs1324563974 |
603 | S>N | No |
ClinGen TOPMed |
|
|
CA192768715 RCV000598797 rs969576919 |
605 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5051838 rs771787963 |
607 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5051840 rs374029484 |
609 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290640402 CA373375228 |
614 | N>S | No |
ClinGen gnomAD |
|
|
CA373375276 rs1388954473 |
615 | L>F | No |
ClinGen TOPMed |
|
|
rs1317105292 CA373375333 |
617 | W>* | No |
ClinGen gnomAD |
|
|
COSM273023 CA373375418 rs1217392431 |
620 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1108807 COSM1108806 rs768322392 CA5051841 |
620 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA373375549 rs1184173402 |
625 | N>D | No |
ClinGen gnomAD |
|
|
rs1173073949 CA373375597 |
628 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 629 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373376047 rs1264975277 |
631 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 632 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459924370 CA373376189 |
636 | N>S | No |
ClinGen gnomAD |
|
|
CA5051854 rs745306738 |
638 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5051855 rs771703881 |
640 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1407467754 CA373376309 |
643 | G>R | No |
ClinGen gnomAD |
|
|
CA373376325 rs1480832280 |
644 | S>N | No |
ClinGen gnomAD |
|
|
rs768534422 CA5051858 |
644 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA192770012 rs963386380 |
648 | S>F | No |
ClinGen Ensembl |
|
|
rs878971202 CA192770019 |
649 | N>D | No |
ClinGen Ensembl |
|
|
rs761833821 CA5051860 |
649 | N>T | No |
ClinGen ExAC |
|
|
rs766437370 CA5051864 |
656 | F>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000479206 rs1554673888 |
657 | V>missing | No |
ClinVar dbSNP |
|
|
rs1395113535 CA373376710 |
657 | V>G | No |
ClinGen TOPMed |
|
|
rs1378218537 CA373376774 |
661 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759649545 CA5051867 |
664 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA373376843 rs1216492384 |
667 | S>I | No |
ClinGen TOPMed |
|
|
rs752945073 CA5051869 |
668 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756689850 CA5051870 |
669 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277940364 CA373376866 COSM212937 |
669 | R>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 670 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 670 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210374955 CA373376894 |
670 | S>L | No |
ClinGen TOPMed |
|
|
CA373376930 rs1242972554 |
672 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373376933 rs1232560816 |
673 | E>K | No |
ClinGen gnomAD |
|
|
rs1212858817 CA373376969 |
674 | P>R | No |
ClinGen TOPMed |
|
|
CA373376963 rs1201753135 |
674 | P>S | No |
ClinGen gnomAD |
|
|
CA373377003 rs1554673917 |
676 | D>N | No |
ClinGen Ensembl |
|
|
CA373377053 rs1271286161 |
678 | H>Q | No |
ClinGen TOPMed |
|
|
rs1316663800 CA373377049 |
678 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA192770156 rs921680629 |
678 | H>Y | No |
ClinGen Ensembl |
|
|
CA373377074 rs1480110839 |
680 | L>F | No |
ClinGen gnomAD |
|
|
rs1006427417 CA192770159 |
680 | L>P | No |
ClinGen TOPMed |
|
|
CA5051874 rs779677821 |
682 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1411195771 CA373378102 |
683 | K>R | No |
ClinGen TOPMed |
|
|
CA373378121 rs1178037349 |
684 | K>N | No |
ClinGen gnomAD |
|
|
rs780776158 CA5051894 |
684 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5051895 rs747789678 |
688 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051896 rs755955756 |
691 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373378214 rs1289922603 |
692 | L>F | No |
ClinGen gnomAD |
|
|
rs777515241 CA5051897 |
693 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA373378272 rs1286448442 |
696 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749258669 CA5051898 |
697 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs770794809 CA5051899 |
698 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA373378314 rs1175647880 |
700 | T>A | No |
ClinGen TOPMed |
|
|
rs1480444271 CA373378333 |
701 | G>A | No |
ClinGen TOPMed |
|
|
rs200129431 CA373378346 |
702 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206686849 CA373378364 |
703 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 705 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373378392 rs1446873044 |
705 | A>T | No |
ClinGen gnomAD |
|
|
rs190656775 CA5051902 |
707 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373378429 rs190656775 |
707 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775622039 CA5051903 |
709 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs113165537 CA192770336 |
710 | F>L | No |
ClinGen Ensembl |
|
|
CA192770353 rs923245039 |
716 | E>K | No |
ClinGen TOPMed |
|
|
rs764583462 CA5051905 |
718 | A>S | No |
ClinGen ExAC |
|
|
rs1319830472 CA373378595 |
720 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5051906 rs568622084 |
720 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5051907 rs762425106 |
721 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051908 rs765596977 |
722 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA373378663 rs1588066316 |
730 | D>A | No |
ClinGen Ensembl |
|
|
rs1176768962 CA373378673 |
731 | L>R | No |
ClinGen Ensembl |
|
|
rs368407938 CA192770436 |
733 | P>R | No |
ClinGen ESP |
|
| TCGA novel | 735 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778771581 CA5051917 |
736 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs954473446 CA192770494 |
739 | K>E | No |
ClinGen Ensembl |
|
|
CA5051918 rs745794844 |
741 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772083131 CA5051919 |
745 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61758531 CA5051920 |
749 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs371968545 CA5051926 |
754 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs912958267 CA192770539 |
756 | Q>P | No |
ClinGen TOPMed |
|
|
rs1202664141 CA373378960 |
757 | L>R | No |
ClinGen gnomAD |
|
|
CA5051929 rs576964878 |
758 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5051930 rs539647497 |
760 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763799241 CA373379106 |
766 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763799241 CA5051931 |
766 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375273933 CA5051933 |
767 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192770623 VAR_011968 rs5816 |
771 | Q>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1394679241 CA373379209 |
772 | D>E | No |
ClinGen gnomAD |
|
|
rs1001774324 CA192770626 |
773 | P>L | No |
ClinGen TOPMed |
|
|
rs369154896 CA192770627 |
774 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192770644 rs1009939756 |
777 | P>L | No |
ClinGen TOPMed |
|
|
CA373379322 rs1232221557 |
780 | G>R | No |
ClinGen gnomAD |
|
|
CA5051939 rs768852284 |
781 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5051942 CA5051941 rs149416695 |
781 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5051940 rs768852284 |
781 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5051944 rs763396540 |
782 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5051943 rs544587520 |
782 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373379397 rs1204043192 |
785 | F>V | No |
ClinGen gnomAD |
|
|
CA5051947 rs760234431 |
786 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370822948 CA5051949 |
787 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764963912 CA5051951 |
788 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373379452 rs1388094804 |
789 | F>L | No |
ClinGen gnomAD |
|
|
rs1279151220 CA373379570 |
793 | G>A | No |
ClinGen TOPMed |
|
|
rs768185612 CA5051966 |
794 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA373379586 rs1354394960 |
795 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1249133293 CA373379629 |
798 | L>W | No |
ClinGen TOPMed |
|
|
CA373379652 rs1317596588 |
799 | D>E | No |
ClinGen gnomAD |
|
|
rs759694185 CA192770899 |
804 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA192770934 rs144829537 |
807 | Q>R | No |
ClinGen ESP |
|
|
CA373379905 rs1588067577 |
816 | V>G | No |
ClinGen Ensembl |
|
|
rs1828390338 RCV001091825 |
817 | E>A | No |
ClinVar dbSNP |
|
|
CA373379908 rs1412687741 |
817 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5051972 rs766256429 |
819 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5051974 rs767730180 |
821 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA192771002 rs967115849 |
828 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 840 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 844 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5052001 rs747451602 |
845 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs368849630 CA192771609 |
848 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5052003 rs368849630 |
848 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769386938 CA5052002 RCV000487025 |
848 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1251294531 CA373380856 |
850 | E>D | No |
ClinGen gnomAD |
|
|
rs1490117942 CA373380874 |
851 | T>S | No |
ClinGen gnomAD |
|
|
CA5052004 rs748972938 |
852 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1477979334 CA373381019 |
858 | D>N | No |
ClinGen gnomAD |
|
|
rs1187549632 CA373381048 |
859 | S>G | No |
ClinGen gnomAD |
|
|
CA5052006 rs774295578 |
861 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 862 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759474898 CA5052007 |
864 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5052008 rs771738009 |
864 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1194186544 CA373381219 |
866 | D>E | No |
ClinGen gnomAD |
|
|
CA192771631 rs765330978 |
869 | G>V | No |
ClinGen Ensembl |
|
|
rs1424821418 CA373381342 |
871 | T>I | No |
ClinGen gnomAD |
|
|
rs775535401 CA5052009 |
872 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA373381405 rs1328793600 |
875 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA373381460 rs1588069130 |
878 | T>P | No |
ClinGen Ensembl |
|
|
rs760487550 CA5052010 |
879 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 880 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270653436 CA373381501 |
880 | M>R | No |
ClinGen gnomAD |
|
|
CA373381730 rs1467499826 |
884 | T>I | No |
ClinGen TOPMed |
|
|
CA373381734 rs1554674374 RCV000520387 |
885 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1406575071 CA373381828 |
890 | Y>H | No |
ClinGen gnomAD |
|
|
rs765278778 CA5052038 |
891 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs766790400 CA5052041 |
896 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763046800 CA5052040 |
896 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373381998 rs1290307919 |
897 | I>V | No |
ClinGen gnomAD |
|
|
rs1357724443 CA373384673 |
905 | V>M | No |
ClinGen gnomAD |
|
|
CA192773058 rs757655301 |
911 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1349785301 CA373384808 |
911 | A>V | No |
ClinGen gnomAD |
|
|
rs747212759 CA5052120 |
913 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA192773064 rs919659730 |
915 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5052123 rs748606293 |
919 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA373384936 rs1181563118 |
920 | G>S | No |
ClinGen TOPMed |
|
|
rs770276670 CA5052124 |
921 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373384977 rs1478648632 |
923 | G>D | No |
ClinGen gnomAD |
|
|
rs773576490 CA192773104 |
925 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773576490 CA5052125 |
925 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423543656 CA373385008 |
925 | R>H | No |
ClinGen gnomAD |
|
|
CA373385020 rs1470757644 |
926 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373385047 rs1259290679 |
928 | P>A | No |
ClinGen TOPMed |
|
|
CA373385066 rs1200846157 |
930 | I>S | No |
ClinGen TOPMed |
|
|
rs760285654 CA373385081 |
932 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5052130 rs150358845 |
932 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5052129 COSM753471 rs760285654 COSM1648168 |
932 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA192773151 rs943921606 |
933 | M>V | No |
ClinGen Ensembl |
|
|
rs753615028 CA5052131 |
935 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1588073056 CA373385160 |
939 | D>E | No |
ClinGen Ensembl |
|
|
rs1379226971 CA373385166 |
940 | A>E | No |
ClinGen TOPMed |
|
|
CA5052133 rs765287874 |
940 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316488724 CA373385209 |
943 | S>C | No |
ClinGen TOPMed |
|
|
RCV000498863 CA373385236 rs781398693 |
945 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1233257228 CA373385238 |
945 | R>H | No |
ClinGen gnomAD |
|
|
CA5052137 rs747265881 |
947 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373385307 rs1452208078 |
949 | R>* | No |
ClinGen gnomAD |
|
|
rs748601422 CA5052140 |
951 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770047763 CA5052141 |
953 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs149104074 CA5052142 |
956 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373385490 rs1450948834 |
958 | I>T | No |
ClinGen gnomAD |
|
|
CA373385530 rs1166290322 |
960 | V>G | No |
ClinGen gnomAD |
|
|
CA16618860 rs1064796553 RCV000479953 |
961 | H>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 962 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5052143 rs201806512 |
962 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5052159 rs756547227 |
968 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 969 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237241843 CA373385769 |
970 | V>A | No |
ClinGen TOPMed |
|
|
CA373385887 rs1472880421 |
976 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA373385897 rs1309870543 |
976 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 977 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373385963 rs1393116466 |
979 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 981 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365183863 CA373386120 |
985 | N>K | No |
ClinGen TOPMed |
|
|
CA373386123 rs1292691259 |
986 | T>S | No |
ClinGen TOPMed |
|
|
CA5052161 rs749804166 |
986 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA373386323 rs1381057256 |
994 | G>D | No |
ClinGen TOPMed |
|
|
rs779382712 CA5052163 |
995 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5052179 rs143187530 |
996 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1002 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866959603 CA192773507 |
1003 | S>C | No |
ClinGen Ensembl |
|
|
rs371926904 CA5052181 |
1004 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5052182 rs746341457 |
1005 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1349163835 CA373386614 |
1006 | K>T | No |
ClinGen gnomAD |
|
|
CA5052183 rs768235885 |
1007 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780528803 CA5052184 |
1010 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs771955209 CA192773525 |
1011 | E>K | No |
ClinGen TOPMed |
|
|
CA5052187 rs772984583 |
1012 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1485081591 CA373386765 |
1014 | C>S | No |
ClinGen gnomAD |
|
|
CA232240 COSM3685618 COSM1132490 RCV000122514 rs386352338 |
1016 | Q>H | prostate breast [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
CA192773542 rs75891671 |
1022 | D>N | No |
ClinGen Ensembl |
|
|
rs759338876 CA5052190 |
1025 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA373387139 rs1378002065 |
1029 | G>V | No |
ClinGen TOPMed |
|
|
rs1305298572 CA373387176 |
1031 | M>T | No |
ClinGen gnomAD |
|
|
rs143876283 CA5052219 |
1032 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1033 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766860402 CA5052220 |
1035 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA5052221 rs752073130 |
1038 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5052224 COSM381676 rs146546770 |
1040 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5052223 rs146546770 |
1040 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755731628 CA5052222 |
1040 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1048 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
3 associated diseases with P20594
[MIM: 602875]: Acromesomelic dysplasia 1 (AMD1)
A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth. {ECO:0000269|PubMed:15146390, ECO:0000269|PubMed:17652215, ECO:0000269|PubMed:26980729}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615923]: Epiphyseal chondrodysplasia, Miura type (ECDM)
An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. {ECO:0000269|PubMed:22870295, ECO:0000269|PubMed:23827346, ECO:0000269|PubMed:24057292, ECO:0000269|PubMed:24259409}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616255]: Short stature with non-specific skeletal abnormalities (SNSK)
A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. {ECO:0000269|PubMed:24001744, ECO:0000269|PubMed:24471569}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth. {ECO:0000269|PubMed:15146390, ECO:0000269|PubMed:17652215, ECO:0000269|PubMed:26980729}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. {ECO:0000269|PubMed:22870295, ECO:0000269|PubMed:23827346, ECO:0000269|PubMed:24057292, ECO:0000269|PubMed:24259409}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. {ECO:0000269|PubMed:24001744, ECO:0000269|PubMed:24471569}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P20594
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P20594 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 4.6.1.2 | Phosphorus-oxygen lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| GTP binding | Binding to GTP, guanosine triphosphate. |
| guanylate cyclase activity | Catalysis of the reaction: GTP = 3',5'-cyclic GMP + diphosphate. |
| hormone binding | Binding to an hormone, a naturally occurring substance secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor. |
| identical protein binding | Binding to an identical protein or proteins. |
| natriuretic peptide receptor activity | Combining with a natriuretic peptide and transmitting the signal to initiate a change in cell activity. |
| peptide hormone binding | Binding to a peptide with hormonal activity in animals. |
| peptide receptor activity | Combining with an extracellular or intracellular peptide to initiate a change in cell activity. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| bone development | The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. |
| cellular response to granulocyte macrophage colony-stimulating factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a granulocyte macrophage colony-stimulating factor stimulus. |
| cGMP biosynthetic process | The chemical reactions and pathways resulting in the formation of cyclic GMP, guanosine 3',5'-phosphate. |
| cGMP-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via cyclic GMP (cGMP). Includes production of cGMP, and downstream effectors that further transmit the signal within the cell. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| negative regulation of meiotic cell cycle | Any process that stops, prevents or reduces the rate or extent of progression through the meiotic cell cycle. |
| negative regulation of oocyte maturation | Any process that stops, prevents or reduces the frequency, rate or extent of oocyte maturation. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| positive regulation of cGMP-mediated signaling | Any process that increases the rate, frequency or extent of cGMP-mediated signaling. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| receptor guanylyl cyclase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses guanylyl cyclase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O02740 | GUCY2F | Retinal guanylyl cyclase 2 | Bos taurus (Bovine) | PR |
| P46197 | NPR2 | Atrial natriuretic peptide receptor 2 | Bos taurus (Bovine) | PR |
| Q02846 | GUCY2D | Retinal guanylyl cyclase 1 | Homo sapiens (Human) | PR |
| P51841 | GUCY2F | Retinal guanylyl cyclase 2 | Homo sapiens (Human) | PR |
| P52785 | Gucy2e | Retinal guanylyl cyclase 1 | Mus musculus (Mouse) | PR |
| Q5SDA5 | Gucy2f | Retinal guanylyl cyclase 2 | Mus musculus (Mouse) | PR |
| Q6VVW5 | Npr2 | Atrial natriuretic peptide receptor 2 | Mus musculus (Mouse) | PR |
| P51840 | Gucy2e | Retinal guanylyl cyclase 1 | Rattus norvegicus (Rat) | PR |
| P18910 | Npr1 | Atrial natriuretic peptide receptor 1 | Rattus norvegicus (Rat) | PR |
| P51842 | Gucy2f | Retinal guanylyl cyclase 2 | Rattus norvegicus (Rat) | PR |
| P16067 | Npr2 | Atrial natriuretic peptide receptor 2 | Rattus norvegicus (Rat) | PR |
| Q09435 | gcy-1 | Receptor-type guanylate cyclase gcy-1 | Caenorhabditis elegans | PR |
| O16544 | gcy-19 | Receptor-type guanylate cyclase gcy-19 | Caenorhabditis elegans | PR |
| Q18331 | gcy-11 | Receptor-type guanylate cyclase gcy-11 | Caenorhabditis elegans | PR |
| Q10029 | gcy-2 | Receptor-type guanylate cyclase gcy-2 | Caenorhabditis elegans | PR |
| X5M8U1 | gcy-17 | Receptor-type guanylate cyclase gcy-17 | Caenorhabditis elegans | PR |
| Q23682 | gcy-5 | Receptor-type guanylate cyclase gcy-5 | Caenorhabditis elegans | PR |
| Q9LIG2 | At3g21340 | Receptor-like protein kinase At3g21340 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| C0LGG3 | At1g51820 | Probable LRR receptor-like serine/threonine-protein kinase At1g51820 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FN93 | At5g59680 | Probable LRR receptor-like serine/threonine-protein kinase At5g59680 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| C0LGW2 | PAM74 | Probable LRR receptor-like serine/threonine-protein kinase PAM74 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SNA3 | At3g46340 | Putative receptor-like protein kinase At3g46340 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQR3 | At2g14510 | Leucine-rich repeat receptor-like serine/threonine-protein kinase At2g14510 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FN94 | At5g59670 | Receptor-like protein kinase At5g59670 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64556 | At2g19230 | Putative leucine-rich repeat receptor-like serine/threonine-protein kinase At2g19230 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| C0LGI2 | At1g67720 | Probable LRR receptor-like serine/threonine-protein kinase At1g67720 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALPSLLLLV | AALAGGVRPP | GARNLTLAVV | LPEHNLSYAW | AWPRVGPAVA | LAVEALGRAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVDLRFVSSE | LEGACSEYLA | PLSAVDLKLY | HDPDLLLGPG | CVYPAASVAR | FASHWRLPLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TAGAVASGFS | AKNDHYRTLV | RTGPSAPKLG | EFVVTLHGHF | NWTARAALLY | LDARTDDRPH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YFTIEGVFEA | LQGSNLSVQH | QVYAREPGGP | EQATHFIRAN | GRIVYICGPL | EMLHEILLQA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QRENLTNGDY | VFFYLDVFGE | SLRAGPTRAT | GRPWQDNRTR | EQAQALREAF | QTVLVITYRE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPNPEYQEFQ | NRLLIRARED | FGVELGPSLM | NLIAGCFYDG | ILLYAEVLNE | TIQEGGTRED |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLRIVEKMQG | RRYHGVTGLV | VMDKNNDRET | DFVLWAMGDL | DSGDFQPAAH | YSGAEKQIWW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TGRPIPWVKG | APPSDNPPCA | FDLDDPSCDK | TPLSTLAIVA | LGTGITFIMF | GVSSFLIFRK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LMLEKELASM | LWRIRWEELQ | FGNSERYHKG | AGSRLTLSLR | GSSYGSLMTA | HGKYQIFANT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GHFKGNVVAI | KHVNKKRIEL | TRQVLFELKH | MRDVQFNHLT | RFIGACIDPP | NICIVTEYCP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RGSLQDILEN | DSINLDWMFR | YSLINDLVKG | MAFLHNSIIS | SHGSLKSSNC | VVDSRFVLKI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TDYGLASFRS | TAEPDDSHAL | YAKKLWTAPE | LLSGNPLPTT | GMQKADVYSF | GIILQEIALR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SGPFYLEGLD | LSPKEIVQKV | RNGQRPYFRP | SIDRTQLNEE | LVLLMERCWA | QDPAERPDFG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QIKGFIRRFN | KEGGTSILDN | LLLRMEQYAN | NLEKLVEERT | QAYLEEKRKA | EALLYQILPH |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SVAEQLKRGE | TVQAEAFDSV | TIYFSDIVGF | TALSAESTPM | QVVTLLNDLY | TCFDAIIDNF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DVYKVETIGD | AYMVVSGLPG | RNGQRHAPEI | ARMALALLDA | VSSFRIRHRP | HDQLRLRIGV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| HTGPVCAGVV | GLKMPRYCLF | GDTVNTASRM | ESNGQALKIH | VSSTTKDALD | ELGCFQLELR |
| 1030 | 1040 | ||||
| GDVEMKGKGK | MRTYWLLGER | KGPPGLL |