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# | Reference Title | Reference Citation |
1. | Association of GNAS1 gene variant with hypertension depending on smoking status. | Abe M, etal., Hypertension. 2002 Sep;40(3):261-5. |
2. | Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. | Ahrens W, etal., J Clin Endocrinol Metab. 2001 Oct;86(10):4630-4. |
3. | GNAS locus and pseudohypoparathyroidism. | Bastepe M and Juppner H, Horm Res. 2005;63(2):65-74. Epub 2005 Feb 9. |
4. | The genetic association database. | Becker KG, etal., Nat Genet. 2004 May;36(5):431-2. |
5. | Physiology and pathophysiology of the vasopressin-regulated renal water reabsorption. | Boone M and Deen PM, Pflugers Arch. 2008 Sep;456(6):1005-24. Epub 2008 Apr 23. |
6. | The melanocortin system in control of inflammation. | Catania A, etal., ScientificWorldJournal. 2010 Sep 14;10:1840-53. |
7. | Alterations in hepatic glucagon receptor density and in Gsalpha and Gialpha2 protein content with diet-induced hepatic steatosis: effects of acute exercise. | Charbonneau A, etal., Am J Physiol Endocrinol Metab. 2005 Jul;289(1):E8-14. Epub 2005 Feb 1. |
8. | Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. | de Sanctis L, etal., J Clin Endocrinol Metab. 2004 Apr;89(4):1650-5. |
9. | Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. | De Sanctis L, etal., Pediatr Res. 2003 May;53(5):749-55. Epub 2003 Mar 5. |
10. | Beta-adrenergic stimulation and myocardial function in the failing heart. | El-Armouche A and Eschenhagen T, Heart Fail Rev. 2009 Dec;14(4):225-41. |
11. | Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. | Fragoso MC, etal., J Clin Endocrinol Metab. 2003 May;88(5):2147-51. |
12. | GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets. | Freson K, etal., J Clin Endocrinol Metab. 2008 Dec;93(12):4851-9. doi: 10.1210/jc.2008-0883. Epub 2008 Sep 23. |
13. | The GNAS1 T393C polymorphism is associated with disease progression and survival in chronic lymphocytic leukemia. | Frey UH, etal., Clin Cancer Res. 2006 Oct 1;12(19):5686-92. |
14. | The CC genotype of the GNAS T393C polymorphism is associated with obesity and insulin resistance in women with polycystic ovary syndrome. | Hahn S, etal., Eur J Endocrinol. 2006 Nov;155(5):763-70. |
15. | The molecular mechanisms underlying the regulation of the biological activity of corticotropin-releasing hormone receptors: implications for physiology and pathophysiology. | Hillhouse EW and Grammatopoulos DK, Endocr Rev. 2006 May;27(3):260-86. Epub 2006 Feb 16. |
16. | Science review: Vasopressin and the cardiovascular system part 1--receptor physiology. | Holmes CL, etal., Crit Care. 2003 Dec;7(6):427-34. Epub 2003 Jun 26. |
17. | Live cell imaging of Gs and the beta2-adrenergic receptor demonstrates that both alphas and beta1gamma7 internalize upon stimulation and exhibit similar trafficking patterns that differ from that of the beta2-adrenergic receptor. | Hynes TR, etal., J Biol Chem. 2004 Oct 15;279(42):44101-12. Epub 2004 Aug 5. |
18. | NESP55, a novel chromogranin-like peptide, is expressed in endocrine tumours of the pancreas and adrenal medulla but not in ileal carcinoids. | Jakobsen AM, etal., Br J Cancer. 2003 Jun 2;88(11):1746-54. |
19. | Angiotensin II regulates V2 receptor and pAQP2 during ureteral obstruction. | Jensen AM, etal., Am J Physiol Renal Physiol. 2009 Jan;296(1):F127-34. Epub 2008 Oct 29. |
20. | Indomethacin enhances shuttling of aquaporin-2 despite decreased abundance in rat kidney. | Kim SW, etal., J Am Soc Nephrol. 2004 Dec;15(12):2998-3005. |
21. | GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. | Landis CA, etal., Nature. 1989 Aug 31;340(6236):692-6. |
22. | Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. | Liu J, etal., Hum Mol Genet. 2005 Jan 1;14(1):95-102. Epub 2004 Nov 10. |
23. | Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. | Mantovani G, etal., J Clin Endocrinol Metab. 2000 Nov;85(11):4243-8. |
24. | Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors. | Mantovani G, etal., J Clin Endocrinol Metab. 2004 Jun;89(6):3007-9. |
25. | TGR5 contributes to hepatic cystogenesis in rodents with polycystic liver diseases through cyclic adenosine monophosphate/Gαs signaling. | Masyuk TV, etal., Hepatology. 2017 Oct;66(4):1197-1218. doi: 10.1002/hep.29284. Epub 2017 Aug 26. |
26. | Glucagon-mediated internalization of serine-phosphorylated glucagon receptor and Gsalpha in rat liver. | Merlen C, etal., FEBS Lett. 2006 Oct 16;580(24):5697-704. Epub 2006 Sep 20. |
27. | Regionally selective alterations in G protein subunit levels in the Alzheimer's disease brain. | O'Neill C, etal., Brain Res. 1994 Feb 14;636(2):193-201. |
28. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
29. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
30. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
31. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
32. | Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. | Rey RA, etal., Hum Mol Genet. 2006 Dec 15;15(24):3538-43. Epub 2006 Nov 13. |
33. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
34. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
35. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
36. | A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. | Richard N, etal., J Clin Endocrinol Metab. 2012 May;97(5):E863-7. doi: 10.1210/jc.2011-2804. Epub 2012 Feb 29. |
37. | Activating GNAS1 gene mutations in patients with premature thelarche. | Roman R, etal., J Pediatr. 2004 Aug;145(2):218-22. |
38. | Physiological roles for G protein-regulated adenylyl cyclase isoforms: insights from knockout and overexpression studies. | Sadana R and Dessauer CW, Neurosignals. 2009;17(1):5-22. Epub 2008 Oct 24. |
39. | GNAS1 T393C polymorphism is associated with clinical course in patients with intrahepatic cholangiocarcinoma. | Schmitz KJ, etal., Neoplasia. 2007 Feb;9(2):159-65. |
40. | Polymorphisms of genes encoding components of the sympathetic nervous system but not the renin-angiotensin system as risk factors for orthostatic hypotension. | Tabara Y, etal., J Hypertens. 2002 Apr;20(4):651-6. |
41. | Gs(alpha) mutations and imprinting defects in human disease. | Weinstein LS, etal., Ann N Y Acad Sci. 2002 Jun;968:173-97. |
42. | Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. | Weinstein LS, etal., Proc Natl Acad Sci U S A. 1990 Nov;87(21):8287-90. |
43. | Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. | Yu D, etal., J Clin Endocrinol Metab. 1999 Sep;84(9):3254-9. |
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PMID:39043181 | PMID:39305132 | PMID:39753132 | PMID:39884271 | PMID:40437099 |
GNAS (Homo sapiens - human) |
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Gnas (Mus musculus - house mouse) |
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Gnas (Rattus norvegicus - Norway rat) |
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GNAS (Pan paniscus - bonobo/pygmy chimpanzee) |
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GNAS (Canis lupus familiaris - dog) |
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LOC101971027 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GNAS (Sus scrofa - pig) |
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GNAS (Chlorocebus sabaeus - green monkey) |
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Gnas (Heterocephalus glaber - naked mole-rat) |
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Variants in GNAS
1072 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_000516.7(GNAS):c.891_905del (p.Glu299_Ala303del) | deletion | not provided [RCV000523258] | Chr20:58910000..58910014 [GRCh38] Chr20:57485055..57485069 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.1188_1196dup (p.Ala400_Asp401insAlaProAla) | duplication | not provided [RCV000968774]|not specified [RCV000121159] | Chr20:58854444..58854445 [GRCh38] Chr20:57429499..57429500 [GRCh37] Chr20:20q13.32 |
benign|not provided |
GNAS, 36-BP DUP, ALA138ASP, PRO161ARG | duplication | Prolonged bleeding time, brachydactyly, and intellectual disability [RCV000017325] | Chr20:20q13.2 | uncertain significance |
NM_000516.7(GNAS):c.839+1G>C | single nucleotide variant | Pseudohypoparathyroidism [RCV000017279]|Pseudopseudohypoparathyroidism [RCV000017280] | Chr20:58909805 [GRCh38] Chr20:57484860 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.725del (p.Thr242fs) | deletion | Progressive osseous heteroplasia [RCV000017283]|Pseudohypoparathyroidism [RCV000017281]|Pseudopseudohypoparathyroidism [RCV000017282] | Chr20:58909690 [GRCh38] Chr20:57484745 [GRCh37] Chr20:20q13.32 |
pathogenic |
GNAS, IVS3AS, A-G, -12 | single nucleotide variant | Pseudohypoparathyroidism [RCV000017284] | Chr20:20q13.2 | pathogenic |
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) | deletion | Disorders of GNAS Inactivation [RCV003389234]|GNAS-related disorder [RCV004532373]|Inborn genetic diseases [RCV003162254]|McCune-Albright syndrome [RCV002496387]|Progressive osseous heteroplasia [RCV000017301]|Pseudohypoparathyroidism [RCV000017300]|Pseudohypoparathyroidism type 1B [RCV001196108]|Pseudohypoparathyroidism type 1C [RCV003227604]|Pseudohypoparathyroidism type I A [RCV001731307]|Pseudopseudohypoparathyroidism [RCV000017302]|not provided [RCV001851884]|not specified [RCV000678707] | Chr20:58909194..58909197 [GRCh38] Chr20:57484249..57484252 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000516.7(GNAS):c.119_139+17del | deletion | Pseudohypoparathyroidism [RCV000017305]|Pseudopseudohypoparathyroidism [RCV000017304] | Chr20:58891845..58891882 [GRCh38] Chr20:57466900..57466937 [GRCh37] Chr20:20q13.32 |
pathogenic |
GNAS, GLN170ALA | variation | Pseudopseudohypoparathyroidism [RCV000017308] | Chr20:20q13.2 | pathogenic |
NM_000516.7(GNAS):c.617_618del (p.Gly206fs) | deletion | Pseudohypoparathyroidism [RCV000017312]|Pseudopseudohypoparathyroidism [RCV000017313] | Chr20:58909381..58909382 [GRCh38] Chr20:57484436..57484437 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.302_303del (p.Glu101fs) | microsatellite | Pseudohypoparathyroidism [RCV000017314]|Pseudopseudohypoparathyroidism [RCV000017315] | Chr20:58903573..58903574 [GRCh38] Chr20:57478628..57478629 [GRCh37] Chr20:20q13.32 |
pathogenic |
GNAS, 1-BP DEL, 348C | deletion | Progressive osseous heteroplasia [RCV000017316]|Pseudohypoparathyroidism [RCV000017317] | Chr20:20q13.2 | pathogenic |
NM_000516.7(GNAS):c.112del (p.Arg38fs) | deletion | Pseudohypoparathyroidism [RCV000017318]|Pseudopseudohypoparathyroidism [RCV000017319] | Chr20:58891837 [GRCh38] Chr20:57466892 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080426.4:c.818_819del | deletion | Pseudohypoparathyroidism [RCV000017320] | Chr20:20q13.2 | pathogenic |
NM_080425.4:c.2789_2790del | deletion | Progressive osseous heteroplasia [RCV000017321] | Chr20:20q13.2 | pathogenic |
GNAS, 4.7-KB DEL | deletion | Pseudohypoparathyroidism type 1B [RCV000017324] | Chr20:20q13.2 | pathogenic |
GNAS, 3-BP DEL, CAT, EXON 13 | deletion | Pseudohypoparathyroidism type 1B [RCV000017326] | Chr20:20q13.2 | pathogenic |
NM_000516.7(GNAS):c.254dup (p.Asp85fs) | duplication | Pseudohypoparathyroidism [RCV000017327] | Chr20:58898981..58898982 [GRCh38] Chr20:57474036..57474037 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr) | duplication | Pseudohypoparathyroidism [RCV000017328] | Chr20:58910739..58910740 [GRCh38] Chr20:57485794..57485795 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV000017329] | Chr20:58910817 [GRCh38] Chr20:57485872 [GRCh37] Chr20:20q13.32 |
pathogenic |
NG_016194.2:g.[6012_6117gom;19440_19569lom] | variation | Pseudohypoparathyroidism type 1B [RCV000017330] | Chr20:20q13.2 | pathogenic |
NM_000516.7(GNAS):c.-176G>T | single nucleotide variant | not provided [RCV000722940] | Chr20:58891551 [GRCh38] Chr20:57466606 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1150_1176dup (p.Ala392_Arg393insGlyAlaAlaSerAlaAspThrAlaAla) | duplication | not provided [RCV000722522] | Chr20:58854411..58854412 [GRCh38] Chr20:57429466..57429467 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1686C>T (p.Arg562=) | single nucleotide variant | GNAS-related disorder [RCV004540642]|not provided [RCV003324920] | Chr20:58854951 [GRCh38] Chr20:57430006 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) | single nucleotide variant | GNAS-related disorder [RCV004537885]|not provided [RCV000520886] | Chr20:58909738 [GRCh38] Chr20:57484793 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV000022597] | Chr20:58910818 [GRCh38] Chr20:57485873 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV000022598] | Chr20:58910807 [GRCh38] Chr20:57485862 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV000022599]|Pseudohypoparathyroidism type I A [RCV005234792]|not provided [RCV000174485] | Chr20:58910818 [GRCh38] Chr20:57485873 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.1A>G (p.Met1Val) | single nucleotide variant | Cushing syndrome [RCV000763448]|Pseudohypoparathyroidism [RCV000017278]|not provided [RCV000522303] | Chr20:58891727 [GRCh38] Chr20:57466782 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro) | single nucleotide variant | Pseudohypoparathyroidism [RCV000017285] | Chr20:58903569 [GRCh38] Chr20:57478624 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) | single nucleotide variant | Hereditary spastic paraplegia 4 [RCV001729350]|Pseudohypoparathyroidism [RCV000017286]|Pseudohypoparathyroidism type I A [RCV002288507]|not provided [RCV002054444] | Chr20:58905443 [GRCh38] Chr20:57480498 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) | single nucleotide variant | ACTH-independent macronodular adrenal hyperplasia 1 [RCV004558264]|McCune-Albright syndrome [RCV000017287]|Pituitary adenoma 3, multiple types [RCV000508635]|Pseudohypoparathyroidism type 1B [RCV004760335]|Sex cord-stromal tumor [RCV000017289]|not provided [RCV002513071] | Chr20:58909365 [GRCh38] Chr20:57484420 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|other |
NM_000516.7(GNAS):c.602G>A (p.Arg201His) | single nucleotide variant | ACTH-independent macronodular adrenal hyperplasia 1 [RCV004558265]|Inborn genetic diseases [RCV004018636]|McCune-Albright syndrome [RCV000017290]|McCune-Albright syndrome [RCV005025061]|Pituitary adenoma 3, multiple types [RCV000508670]|Pseudohypoparathyroidism type I A [RCV001813747]|Sex cord-stromal tumor [RCV000017293]|not provided [RCV001804738] | Chr20:58909366 [GRCh38] Chr20:57484421 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|other |
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) | single nucleotide variant | McCune-Albright syndrome [RCV000191995]|Pituitary adenoma 3, multiple types [RCV000017294] | Chr20:58909541 [GRCh38] Chr20:57484596 [GRCh37] Chr20:20q13.32 |
pathogenic|other|not provided |
NM_000516.7(GNAS):c.681G>C (p.Gln227His) | single nucleotide variant | Pituitary adenoma 3, multiple types [RCV000017296] | Chr20:58909542 [GRCh38] Chr20:57484597 [GRCh37] Chr20:20q13.32 |
pathogenic|other |
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) | single nucleotide variant | ACTH-independent macronodular adrenal hyperplasia 1 [RCV004558266]|McCune-Albright syndrome [RCV000191991]|PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC [RCV000017297]|Polyostotic fibrous dysplasia, somatic, mosaic [RCV000017298] | Chr20:58909365 [GRCh38] Chr20:57484420 [GRCh37] Chr20:20q13.32 |
pathogenic|other|not provided |
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg) | single nucleotide variant | Pseudohypoparathyroidism [RCV000017303] | Chr20:58909715 [GRCh38] Chr20:57484770 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) | single nucleotide variant | Inborn genetic diseases [RCV001265731]|Pseudohypoparathyroidism type I A [RCV001731308]|Pseudopseudohypoparathyroidism [RCV000017306]|not provided [RCV000595336] | Chr20:58909737 [GRCh38] Chr20:57484792 [GRCh37] Chr20:20q13.32 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala) | indel | Pseudopseudohypoparathyroidism [RCV000017307] | Chr20:58909737..58909738 [GRCh38] Chr20:57484792..57484793 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1096G>T (p.Ala366Ser) | single nucleotide variant | PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS [RCV000017309] | Chr20:58910740 [GRCh38] Chr20:57485795 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly) | single nucleotide variant | McCune-Albright syndrome [RCV000017310] | Chr20:58909365 [GRCh38] Chr20:57484420 [GRCh37] Chr20:20q13.32 |
pathogenic|other |
NM_000516.7(GNAS):c.692G>A (p.Arg231His) | single nucleotide variant | GNAS-related disorder [RCV004545870]|Pseudohypoparathyroidism [RCV000017311]|Pseudohypoparathyroidism type I A [RCV001731309]|not provided [RCV002514105] | Chr20:58909553 [GRCh38] Chr20:57484608 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) | single nucleotide variant | Pseudohypoparathyroidism [RCV000017323]|Pseudopseudohypoparathyroidism [RCV000017322]|not provided [RCV002243646] | Chr20:58903703 [GRCh38] Chr20:57478758 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) | microsatellite | GNAS-related disorder [RCV004535182]|not provided [RCV003436968]|not specified [RCV000173143] | Chr20:58891706..58891707 [GRCh38] Chr20:57466761..57466762 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 | copy number gain | See cases [RCV000053035] | Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33 |
pathogenic |
NM_016592.3(GNAS):c.*42+13645C>T | single nucleotide variant | Malignant melanoma [RCV000072722] | Chr20:58854531 [GRCh38] Chr20:57429586 [GRCh37] Chr20:56862981 [NCBI36] Chr20:20q13.32 |
not provided |
NM_001077490.2(GNAS):c.*1-16848C>T | single nucleotide variant | Lung cancer [RCV000101695] | Chr20:58878764 [GRCh38] Chr20:57453819 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001196518]|not provided [RCV003764842]|not specified [RCV000121155] | Chr20:58898945 [GRCh38] Chr20:57474000 [GRCh37] Chr20:20q13.32 |
uncertain significance|not provided |
NM_000516.7(GNAS):c.259G>A (p.Glu87Lys) | single nucleotide variant | not provided [RCV005089599]|not specified [RCV000121156] | Chr20:58903532 [GRCh38] Chr20:57478587 [GRCh37] Chr20:20q13.32 |
uncertain significance|not provided |
NM_000516.7(GNAS):c.432C>T (p.Pro144=) | single nucleotide variant | McCune-Albright syndrome [RCV002498564]|not provided [RCV000882967]|not specified [RCV000121157] | Chr20:58903791 [GRCh38] Chr20:57478846 [GRCh37] Chr20:20q13.32 |
benign|likely benign|not provided |
NM_080425.4(GNAS):c.500A>G (p.Asp167Gly) | single nucleotide variant | not provided [RCV001571810]|not specified [RCV000121160] | Chr20:58853765 [GRCh38] Chr20:57428820 [GRCh37] Chr20:20q13.32 |
benign|likely benign|not provided |
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) | single nucleotide variant | McCune-Albright syndrome [RCV002483218]|not provided [RCV000948056]|not specified [RCV000121161] | Chr20:58854572 [GRCh38] Chr20:57429627 [GRCh37] Chr20:20q13.32 |
benign|not provided |
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) | single nucleotide variant | GNAS-related disorder [RCV004542876]|McCune-Albright syndrome [RCV002492424]|not provided [RCV001547748]|not specified [RCV000121162] | Chr20:58854641 [GRCh38] Chr20:57429696 [GRCh37] Chr20:20q13.32 |
benign|likely benign|not provided |
NM_080425.4(GNAS):c.1427C>T (p.Ala476Val) | single nucleotide variant | GNAS-related disorder [RCV004530002]|not provided [RCV005243119]|not specified [RCV000121163] | Chr20:58854692 [GRCh38] Chr20:57429747 [GRCh37] Chr20:20q13.32 |
likely benign|not provided |
NM_080425.4(GNAS):c.1538C>T (p.Ala513Val) | single nucleotide variant | GNAS-related disorder [RCV004530003]|not specified [RCV000121164] | Chr20:58854803 [GRCh38] Chr20:57429858 [GRCh37] Chr20:20q13.32 |
uncertain significance|not provided |
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu) | single nucleotide variant | not provided [RCV001573620]|not specified [RCV000121165] | Chr20:58854392 [GRCh38] Chr20:57429447 [GRCh37] Chr20:20q13.32 |
benign|likely benign|not provided |
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) | single nucleotide variant | McCune-Albright syndrome [RCV002492425]|not provided [RCV000974148]|not specified [RCV000121166] | Chr20:58853893 [GRCh38] Chr20:57428948 [GRCh37] Chr20:20q13.32 |
benign|likely benign|not provided |
NM_080425.4(GNAS):c.1178G>A (p.Arg393Lys) | single nucleotide variant | not specified [RCV000121167] | Chr20:58854443 [GRCh38] Chr20:57429498 [GRCh37] Chr20:20q13.32 |
not provided |
NM_080425.4(GNAS):c.311T>G (p.Phe104Cys) | single nucleotide variant | not specified [RCV000121168] | Chr20:58853576 [GRCh38] Chr20:57428631 [GRCh37] Chr20:20q13.32 |
not provided |
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) | single nucleotide variant | GNAS-related disorder [RCV004528825]|not provided [RCV000224833]|not specified [RCV000121169] | Chr20:58853943 [GRCh38] Chr20:57428998 [GRCh37] Chr20:20q13.32 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_016592.5(GNAS):c.332C>T (p.Thr111Ile) | single nucleotide variant | not specified [RCV000121171] | Chr20:58840438 [GRCh38] Chr20:57415493 [GRCh37] Chr20:20q13.32 |
not provided |
NM_016592.5(GNAS):c.715C>A (p.Pro239Thr) | single nucleotide variant | not provided [RCV000514370]|not specified [RCV000121172] | Chr20:58840821 [GRCh38] Chr20:57415876 [GRCh37] Chr20:20q13.32 |
benign|not provided |
NM_080425.4(GNAS):c.484A>G (p.Met162Val) | single nucleotide variant | McCune-Albright syndrome [RCV002492426]|not provided [RCV000890289]|not specified [RCV000121173] | Chr20:58853749 [GRCh38] Chr20:57428804 [GRCh37] Chr20:20q13.32 |
benign|likely benign|not provided |
NM_080425.4(GNAS):c.988A>G (p.Ile330Val) | single nucleotide variant | GNAS-related disorder [RCV004528826]|McCune-Albright syndrome [RCV005400426]|not provided [RCV002467573]|not specified [RCV000121174] | Chr20:58854253 [GRCh38] Chr20:57429308 [GRCh37] Chr20:20q13.32 |
benign|uncertain significance|not provided |
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) | single nucleotide variant | McCune-Albright syndrome [RCV002492427]|not provided [RCV000514374]|not specified [RCV000121175] | Chr20:58855063 [GRCh38] Chr20:57430118 [GRCh37] Chr20:20q13.32 |
benign|likely benign|not provided |
NM_080425.4(GNAS):c.1135G>C (p.Gly379Arg) | single nucleotide variant | GNAS-related disorder [RCV004530005]|not specified [RCV000121176] | Chr20:58854400 [GRCh38] Chr20:57429455 [GRCh37] Chr20:20q13.32 |
likely benign|not provided |
NM_080425.4(GNAS):c.11G>A (p.Arg4His) | single nucleotide variant | GNAS-related disorder [RCV004542877]|not specified [RCV000121177] | Chr20:58853276 [GRCh38] Chr20:57428331 [GRCh37] Chr20:20q13.32 |
likely benign|not provided |
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) | single nucleotide variant | GNAS-related disorder [RCV004528827]|McCune-Albright syndrome [RCV002498565]|not provided [RCV001573945]|not specified [RCV000121178] | Chr20:58854727 [GRCh38] Chr20:57429782 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance|not provided |
NM_080425.4(GNAS):c.181G>A (p.Val61Ile) | single nucleotide variant | not specified [RCV000121179] | Chr20:58853446 [GRCh38] Chr20:57428501 [GRCh37] Chr20:20q13.32 |
not provided |
NM_080425.4(GNAS):c.196G>A (p.Glu66Lys) | single nucleotide variant | not provided [RCV001698964]|not specified [RCV000121180] | Chr20:58853461 [GRCh38] Chr20:57428516 [GRCh37] Chr20:20q13.32 |
benign|likely benign|not provided |
NM_080425.4(GNAS):c.661G>A (p.Glu221Lys) | single nucleotide variant | GNAS-related disorder [RCV004542878]|not specified [RCV000121181] | Chr20:58853926 [GRCh38] Chr20:57428981 [GRCh37] Chr20:20q13.32 |
uncertain significance|not provided |
NM_080425.4(GNAS):c.1233_1259del (p.Thr415_Gly423del) | deletion | GNAS-related disorder [RCV004542875]|not provided [RCV000962816]|not specified [RCV000121158] | Chr20:58854493..58854519 [GRCh38] Chr20:57429548..57429574 [GRCh37] Chr20:20q13.32 |
benign|likely benign|not provided |
NM_016592.5(GNAS):c.354_365del (p.Ile119_Glu122del) | deletion | GNAS-related disorder [RCV004530004]|not specified [RCV000121170] | Chr20:58840451..58840462 [GRCh38] Chr20:57415506..57415517 [GRCh37] Chr20:20q13.32 |
uncertain significance|not provided |
NM_000516.7(GNAS):c.433-18T>C | single nucleotide variant | not provided [RCV001512377]|not specified [RCV000179318] | Chr20:58905365 [GRCh38] Chr20:57480420 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.163A>G (p.Thr55Ala) | single nucleotide variant | Inborn genetic diseases [RCV000190719] | Chr20:58895635 [GRCh38] Chr20:57470690 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.349G>A (p.Val117Met) | single nucleotide variant | not provided [RCV000514466] | Chr20:58903708 [GRCh38] Chr20:57478763 [GRCh37] Chr20:20q13.32 |
pathogenic|conflicting interpretations of pathogenicity |
NM_000516.7(GNAS):c.1010C>A (p.Ala337Asp) | single nucleotide variant | not provided [RCV000174252] | Chr20:58910373 [GRCh38] Chr20:57485428 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 | copy number gain | See cases [RCV000135622] | Chr20:55630597..60941207 [GRCh38] Chr20:54220678..59516263 [GRCh37] Chr20:53639062..58949658 [NCBI36] Chr20:20q13.2-13.33 |
likely pathogenic |
GRCh38/hg38 20q13.32(chr20:58887879-58890870)x3 | copy number gain | See cases [RCV000137221] | Chr20:58887879..58890870 [GRCh38] Chr20:57462934..57465925 [GRCh37] Chr20:56896329..56899320 [NCBI36] Chr20:20q13.32 |
benign |
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 | copy number gain | See cases [RCV000138035] | Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33 |
pathogenic |
GRCh38/hg38 20q13.32(chr20:58889588-58890885)x1 | copy number loss | See cases [RCV000138424] | Chr20:58889588..58890885 [GRCh38] Chr20:57464643..57465940 [GRCh37] Chr20:56898038..56899335 [NCBI36] Chr20:20q13.32 |
likely benign |
GRCh38/hg38 20q13.32(chr20:58889496-58890544)x1 | copy number loss | See cases [RCV000139083] | Chr20:58889496..58890544 [GRCh38] Chr20:57464551..57465599 [GRCh37] Chr20:56897946..56898994 [NCBI36] Chr20:20q13.32 |
likely benign |
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 | copy number gain | See cases [RCV000141347] | Chr20:57229415..64273089 [GRCh38] Chr20:55804471..62904442 [GRCh37] Chr20:55237878..62374886 [NCBI36] Chr20:20q13.31-13.33 |
pathogenic |
GRCh38/hg38 20q13.32(chr20:58850610-58851543)x3 | copy number gain | See cases [RCV000141470] | Chr20:58850610..58851543 [GRCh38] Chr20:57425665..57426598 [GRCh37] Chr20:56859060..56859993 [NCBI36] Chr20:20q13.32 |
benign |
GRCh38/hg38 20q13.32(chr20:58630473-58881669)x3 | copy number gain | See cases [RCV000141642] | Chr20:58630473..58881669 [GRCh38] Chr20:57205529..57456724 [GRCh37] Chr20:56638935..56890119 [NCBI36] Chr20:20q13.32 |
uncertain significance |
GRCh38/hg38 20q13.32(chr20:58888479-58889699)x3 | copy number gain | See cases [RCV000142376] | Chr20:58888479..58889699 [GRCh38] Chr20:57463534..57464754 [GRCh37] Chr20:56896929..56898149 [NCBI36] Chr20:20q13.32 |
benign |
GRCh38/hg38 20q13.32(chr20:58888333-58893190)x1 | copy number loss | See cases [RCV000142959] | Chr20:58888333..58893190 [GRCh38] Chr20:57463388..57468245 [GRCh37] Chr20:56896783..56901640 [NCBI36] Chr20:20q13.32 |
likely benign |
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 | copy number gain | See cases [RCV000143584] | Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33 |
likely pathogenic |
NM_000516.7(GNAS):c.784C>T (p.Gln262Ter) | single nucleotide variant | not provided [RCV000254856] | Chr20:58909749 [GRCh38] Chr20:57484804 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.393C>T (p.Ile131=) | single nucleotide variant | Progressive osseous heteroplasia [RCV001701698]|Pseudohypoparathyroidism type 1B [RCV001701780]|Pseudohypoparathyroidism type 1C [RCV001701542]|Pseudohypoparathyroidism type I A [RCV001701629]|Pseudopseudohypoparathyroidism [RCV001701628]|not provided [RCV001519408]|not specified [RCV000178784] | Chr20:58903752 [GRCh38] Chr20:57478807 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.971-2A>G | single nucleotide variant | not provided [RCV000255276] | Chr20:58910332 [GRCh38] Chr20:57485387 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) | single nucleotide variant | GNAS-related disorder [RCV004530088]|Inborn genetic diseases [RCV001265981]|McCune-Albright syndrome [RCV002503750]|Pseudohypoparathyroidism [RCV000191090]|Pseudohypoparathyroidism type I A [RCV004786518]|Pseudopseudohypoparathyroidism [RCV002051824]|not provided [RCV003556238] | Chr20:58891760 [GRCh38] Chr20:57466815 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) | single nucleotide variant | McCune-Albright syndrome [RCV000191992] | Chr20:58909366 [GRCh38] Chr20:57484421 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|not provided |
NM_000516.7(GNAS):c.679C>A (p.Gln227Lys) | single nucleotide variant | McCune-Albright syndrome [RCV000191993] | Chr20:58909540 [GRCh38] Chr20:57484595 [GRCh37] Chr20:20q13.32 |
pathogenic|not provided |
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu) | single nucleotide variant | McCune-Albright syndrome [RCV000191994] | Chr20:58909541 [GRCh38] Chr20:57484596 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|not provided |
NM_000516.7(GNAS):c.681G>T (p.Gln227His) | single nucleotide variant | McCune-Albright syndrome [RCV000191996] | Chr20:58909542 [GRCh38] Chr20:57484597 [GRCh37] Chr20:20q13.32 |
pathogenic|not provided |
NM_000516.7(GNAS):c.138G>A (p.Leu46=) | single nucleotide variant | GNAS-related disorder [RCV004530115]|not specified [RCV000194490] | Chr20:58891864 [GRCh38] Chr20:57466919 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.880C>T (p.Gln294Ter) | single nucleotide variant | Pseudohypoparathyroidism [RCV000196321] | Chr20:58909991 [GRCh38] Chr20:57485046 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.1030_1032dup (p.Glu344dup) | duplication | Pseudohypoparathyroidism type 1B [RCV000758195] | Chr20:58910392..58910393 [GRCh38] Chr20:57485447..57485448 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.898A>T (p.Lys300Ter) | single nucleotide variant | not provided [RCV000519224] | Chr20:58910009 [GRCh38] Chr20:57485064 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) | single nucleotide variant | GNAS-related disorder [RCV004527666]|McCune-Albright syndrome [RCV002491150]|not provided [RCV000578725] | Chr20:58853363 [GRCh38] Chr20:57428418 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.10A>G (p.Arg4Gly) | single nucleotide variant | GNAS-related disorder [RCV004535210]|not specified [RCV000238748] | Chr20:58840116 [GRCh38] Chr20:57415171 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.657C>T (p.Pro219=) | single nucleotide variant | GNAS-related disorder [RCV004535207]|not specified [RCV000239168] | Chr20:58853922 [GRCh38] Chr20:57428977 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.432+1G>A | single nucleotide variant | Inborn genetic diseases [RCV000623168]|Pseudopseudohypoparathyroidism [RCV000515760]|not provided [RCV001857879] | Chr20:58903792 [GRCh38] Chr20:57478847 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.108C>T (p.Val36=) | single nucleotide variant | GNAS-related disorder [RCV004535393]|not provided [RCV000274539] | Chr20:58891834 [GRCh38] Chr20:57466889 [GRCh37] Chr20:20q13.32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000516.7(GNAS):c.213-5A>G | single nucleotide variant | not provided [RCV000319282] | Chr20:58898936 [GRCh38] Chr20:57473991 [GRCh37] Chr20:20q13.32 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000516.7(GNAS):c.312+7G>C | single nucleotide variant | not provided [RCV000357613] | Chr20:58903592 [GRCh38] Chr20:57478647 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.477_514del (p.Thr160fs) | deletion | not provided [RCV000366648] | Chr20:58840583..58840620 [GRCh38] Chr20:57415638..57415675 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) | single nucleotide variant | GNAS-related disorder [RCV004531152]|McCune-Albright syndrome [RCV002504569]|Progressive osseous heteroplasia [RCV001354967]|Pseudohypoparathyroidism [RCV001358646]|Pseudohypoparathyroidism type 1B [RCV001354116]|Pseudohypoparathyroidism type 1C [RCV001357204]|Pseudohypoparathyroidism type 1C [RCV005361558]|Pseudopseudohypoparathyroidism [RCV001358585]|not provided [RCV001698589]|not specified [RCV005236829] | Chr20:58853803 [GRCh38] Chr20:57428858 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.-178_-171del | deletion | not provided [RCV000722922] | Chr20:58891545..58891552 [GRCh38] Chr20:57466600..57466607 [GRCh37] Chr20:20q13.32 |
benign|uncertain significance |
NM_000516.7(GNAS):c.-4_2del (p.Met1del) | deletion | Disorders of GNAS Inactivation [RCV003389328]|not provided [RCV000490003] | Chr20:58891723..58891728 [GRCh38] Chr20:57466778..57466783 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.313-3C>G | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV003314440] | Chr20:58903669 [GRCh38] Chr20:57478724 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.531-13_531-10del | microsatellite | not provided [RCV000597562] | Chr20:58909144..58909147 [GRCh38] Chr20:57484204..57484207 [GRCh37] Chr20:20q13.32 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000516.7(GNAS):c.1124T>C (p.Val375Ala) | single nucleotide variant | not provided [RCV000598372] | Chr20:58910768 [GRCh38] Chr20:57485823 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.793C>T (p.Arg265Cys) | single nucleotide variant | GNAS-related disorder [RCV004735684]|Inborn genetic diseases [RCV000624182]|not provided [RCV005054229] | Chr20:58909758 [GRCh38] Chr20:57484813 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_016592.5(GNAS):c.409C>T (p.Pro137Ser) | single nucleotide variant | Inborn genetic diseases [RCV000624712] | Chr20:58840515 [GRCh38] Chr20:57415570 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.890del (p.Gly297fs) | deletion | GNAS-related disorder [RCV004735655]|Pseudopseudohypoparathyroidism [RCV004555871]|not specified [RCV000592657] | Chr20:58854153 [GRCh38] Chr20:57429208 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV003139897]|not provided [RCV000593306] | Chr20:58910740 [GRCh38] Chr20:57485795 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000516.7(GNAS):c.312+4C>T | single nucleotide variant | not provided [RCV000593542] | Chr20:58903589 [GRCh38] Chr20:57478644 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) | single nucleotide variant | Cushing syndrome [RCV000763449]|Obesity [RCV000414783]|Pseudohypoparathyroidism type 1B [RCV001270163]|not provided [RCV000760382] | Chr20:58891811 [GRCh38] Chr20:57466866 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.102G>A (p.Lys34=) | single nucleotide variant | GNAS-related disorder [RCV004735786]|not provided [RCV000733691] | Chr20:58891828 [GRCh38] Chr20:57466883 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.779A>G (p.Asp260Gly) | single nucleotide variant | not provided [RCV000729139] | Chr20:58909744 [GRCh38] Chr20:57484799 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1093del (p.Cys365fs) | deletion | not provided [RCV000414072] | Chr20:58910737 [GRCh38] Chr20:57485792 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.319G>C (p.Val107Leu) | single nucleotide variant | not provided [RCV000421661] | Chr20:58903678 [GRCh38] Chr20:57478733 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.125G>A (p.Arg42His) | single nucleotide variant | not provided [RCV000429080] | Chr20:58891851 [GRCh38] Chr20:57466906 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_080425.4(GNAS):c.919C>G (p.Pro307Ala) | single nucleotide variant | not provided [RCV000425831] | Chr20:58854184 [GRCh38] Chr20:57429239 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1136G>A (p.Cys379Tyr) | single nucleotide variant | not provided [RCV000481496] | Chr20:58910780 [GRCh38] Chr20:57485835 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.257+1G>T | single nucleotide variant | not provided [RCV000482442] | Chr20:58898986 [GRCh38] Chr20:57474041 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.1A>T (p.Met1Leu) | single nucleotide variant | not provided [RCV000483377] | Chr20:58891727 [GRCh38] Chr20:57466782 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.8G>C (p.Cys3Ser) | single nucleotide variant | not provided [RCV000484773] | Chr20:58891734 [GRCh38] Chr20:57466789 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) | single nucleotide variant | Cushing syndrome [RCV000477792] | Chr20:58854465 [GRCh38] Chr20:57429520 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) | single nucleotide variant | Cushing syndrome [RCV000477956]|McCune-Albright syndrome [RCV002481496]|not provided [RCV000879924]|not specified [RCV001726187] | Chr20:58854720 [GRCh38] Chr20:57429775 [GRCh37] Chr20:20q13.32 |
benign|likely benign|uncertain significance |
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys) | single nucleotide variant | Pseudohypoparathyroidism [RCV000496133]|not provided [RCV003313085] | Chr20:58853740 [GRCh38] Chr20:57428795 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_000516.7(GNAS):c.585+6C>T | single nucleotide variant | GNAS-related disorder [RCV004535595]|not provided [RCV001318417]|not specified [RCV000501587] | Chr20:58909222 [GRCh38] Chr20:57484277 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.306G>A (p.Ala102=) | single nucleotide variant | not provided [RCV000972192]|not specified [RCV000501728] | Chr20:58903579 [GRCh38] Chr20:57478634 [GRCh37] Chr20:20q13.32 |
likely pathogenic|benign|likely benign |
NM_000516.7(GNAS):c.530+10C>T | single nucleotide variant | GNAS-related disorder [RCV004535594]|not provided [RCV002056849]|not specified [RCV000500133] | Chr20:58905490 [GRCh38] Chr20:57480545 [GRCh37] Chr20:20q13.32 |
benign|likely benign|uncertain significance |
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 | copy number gain | See cases [RCV000511980] | Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33 |
likely pathogenic |
NM_000516.7(GNAS):c.305C>T (p.Ala102Val) | single nucleotide variant | not provided [RCV000493137] | Chr20:58903578 [GRCh38] Chr20:57478633 [GRCh37] Chr20:20q13.32 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_016592.5(GNAS):c.367A>G (p.Thr123Ala) | single nucleotide variant | not provided [RCV000493376] | Chr20:58840473 [GRCh38] Chr20:57415528 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_000516.7(GNAS):c.2T>C (p.Met1Thr) | single nucleotide variant | See cases [RCV002222189]|not provided [RCV000595919] | Chr20:58891728 [GRCh38] Chr20:57466783 [GRCh37] Chr20:20q13.32 |
pathogenic|uncertain significance |
NM_016592.5(GNAS):c.263dup (p.His88fs) | duplication | Inborn genetic diseases [RCV000624669] | Chr20:58840368..58840369 [GRCh38] Chr20:57415423..57415424 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.920A>T (p.Lys307Met) | single nucleotide variant | Inborn genetic diseases [RCV003261900] | Chr20:58910031 [GRCh38] Chr20:57485086 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_000516.7(GNAS):c.742G>A (p.Val248Met) | single nucleotide variant | Inborn genetic diseases [RCV000623120] | Chr20:58909707 [GRCh38] Chr20:57484762 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_016592.5(GNAS):c.3G>A (p.Met1Ile) | single nucleotide variant | not provided [RCV000681937] | Chr20:58840109 [GRCh38] Chr20:57415164 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.1006dup (p.Arg336fs) | duplication | not specified [RCV000678708] | Chr20:58910366..58910367 [GRCh38] Chr20:57485421..57485422 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) | single nucleotide variant | GNAS-related disorder [RCV004544954]|Pseudopseudohypoparathyroidism [RCV000708584] | Chr20:58854687 [GRCh38] Chr20:57429742 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_080425.4(GNAS):c.2069-5231C>T | single nucleotide variant | not provided [RCV004810478] | Chr20:58890381 [GRCh38] Chr20:57465436 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.627G>A (p.Lys209=) | single nucleotide variant | not provided [RCV001573508]|not specified [RCV001700787] | Chr20:58853892 [GRCh38] Chr20:57428947 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732171] | Chr20:58910388 [GRCh38] Chr20:57485443 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV001730120] | Chr20:58903723 [GRCh38] Chr20:57478778 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20q13.32(chr20:57463993-57469073)x0 | copy number loss | not provided [RCV000741295] | Chr20:57463993..57469073 [GRCh37] Chr20:20q13.32 |
benign |
GRCh37/hg19 20q13.32(chr20:57465451-57469073)x1 | copy number loss | not provided [RCV000741296] | Chr20:57465451..57469073 [GRCh37] Chr20:20q13.32 |
benign |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_000516.7(GNAS):c.976C>T (p.Pro326Ser) | single nucleotide variant | not provided [RCV001700614] | Chr20:58910339 [GRCh38] Chr20:57485394 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter) | single nucleotide variant | Pseudohypoparathyroidism [RCV000853231] | Chr20:58903544 [GRCh38] Chr20:57478599 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.319G>A (p.Val107Met) | single nucleotide variant | not provided [RCV001597488] | Chr20:58903678 [GRCh38] Chr20:57478733 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV000754872]|not provided [RCV005092169] | Chr20:58909718 [GRCh38] Chr20:57484773 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_000516.7(GNAS):c.120G>A (p.Thr40=) | single nucleotide variant | GNAS-related disorder [RCV004533535]|not provided [RCV000919563] | Chr20:58891846 [GRCh38] Chr20:57466901 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) | insertion | not provided [RCV001573787]|not specified [RCV001700790] | Chr20:58854641..58854642 [GRCh38] Chr20:57429696..57429697 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) | microsatellite | McCune-Albright syndrome [RCV000761303]|Pseudohypoparathyroidism type 1B [RCV002273823] | Chr20:58910787..58910789 [GRCh38] Chr20:57485842..57485844 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.526C>T (p.Gln176Ter) | single nucleotide variant | not provided [RCV000760383] | Chr20:58905476 [GRCh38] Chr20:57480531 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.585+1G>A | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV003314468] | Chr20:58909217 [GRCh38] Chr20:57484272 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.433G>T (p.Glu145Ter) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV003314347] | Chr20:58905383 [GRCh38] Chr20:57480438 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys) | single nucleotide variant | not provided [RCV003239066] | Chr20:58905428 [GRCh38] Chr20:57480483 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|uncertain significance |
NM_080425.4(GNAS):c.2069-6389CGGCG[3] | microsatellite | McCune-Albright syndrome [RCV000990322] | Chr20:58889222..58889223 [GRCh38] Chr20:57464277..57464278 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.-18GCC[8] (p.Met1_Gly2insAlaAla) | microsatellite | not provided [RCV001577060] | Chr20:58891706..58891707 [GRCh38] Chr20:57466761..57466762 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.348dup (p.Val117fs) | duplication | GNAS-related disorder [RCV004734008]|McCune-Albright syndrome [RCV002489729]|Pseudohypoparathyroidism type I A [RCV002250726]|not provided [RCV001090864] | Chr20:58903701..58903702 [GRCh38] Chr20:57478756..57478757 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080425.4(GNAS):c.1343A>C (p.Asp448Ala) | single nucleotide variant | GNAS-related disorder [RCV004528518]|Inborn genetic diseases [RCV004039403]|not provided [RCV001573237] | Chr20:58854608 [GRCh38] Chr20:57429663 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) | single nucleotide variant | McCune-Albright syndrome [RCV002495552]|not provided [RCV000925048] | Chr20:58910775 [GRCh38] Chr20:57485830 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.195C>A (p.Gly65=) | single nucleotide variant | GNAS-related disorder [RCV004543560]|not provided [RCV000949441] | Chr20:58853460 [GRCh38] Chr20:57428515 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.132G>A (p.Leu44=) | single nucleotide variant | not provided [RCV000967801] | Chr20:58891858 [GRCh38] Chr20:57466913 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1173C>T (p.Tyr391=) | single nucleotide variant | GNAS-related disorder [RCV004543455]|not provided [RCV000920346] | Chr20:58910817 [GRCh38] Chr20:57485872 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) | single nucleotide variant | GNAS-related disorder [RCV004735876]|McCune-Albright syndrome [RCV002479036]|not provided [RCV000902012] | Chr20:58854223 [GRCh38] Chr20:57429278 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.306G>T (p.Ala102=) | single nucleotide variant | GNAS-related disorder [RCV004536003]|not provided [RCV000983663] | Chr20:58903579 [GRCh38] Chr20:57478634 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_001077489.4(GNAS):c.929C>T (p.Thr310Ile) | single nucleotide variant | Esophageal atresia [RCV000984650] | Chr20:58910337 [GRCh38] Chr20:57485392 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) | copy number gain | not provided [RCV000767669] | Chr20:54143747..62194881 [GRCh37] Chr20:20q13.2-13.33 |
pathogenic |
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup) | microsatellite | GNAS-related disorder [RCV000767533]|Pseudohypoparathyroidism type I A [RCV005235479]|not provided [RCV001869055] | Chr20:58891852..58891853 [GRCh38] Chr20:57466907..57466908 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.366C>T (p.Pro122=) | single nucleotide variant | McCune-Albright syndrome [RCV002479039]|Pseudohypoparathyroidism [RCV001007597]|not provided [RCV000903826]|not specified [RCV001796813] | Chr20:58903725 [GRCh38] Chr20:57478780 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.384G>A (p.Val128=) | single nucleotide variant | GNAS-related disorder [RCV004541903]|McCune-Albright syndrome [RCV002495465]|not provided [RCV000903827]|not specified [RCV001796814] | Chr20:58903743 [GRCh38] Chr20:57478798 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.718+7T>C | single nucleotide variant | not provided [RCV000923778] | Chr20:58909586 [GRCh38] Chr20:57484641 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) | single nucleotide variant | McCune-Albright syndrome [RCV002489367]|not provided [RCV000962815] | Chr20:58854486 [GRCh38] Chr20:57429541 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.684C>T (p.Arg228=) | single nucleotide variant | GNAS-related disorder [RCV004735889]|McCune-Albright syndrome [RCV002495539]|not provided [RCV000921458] | Chr20:58909545 [GRCh38] Chr20:57484600 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.651T>A (p.Arg217=) | single nucleotide variant | not provided [RCV000964561] | Chr20:58840757 [GRCh38] Chr20:57415812 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) | single nucleotide variant | McCune-Albright syndrome [RCV002501470]|not provided [RCV000892313] | Chr20:58854178 [GRCh38] Chr20:57429233 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.18C>T (p.Asn6=) | single nucleotide variant | GNAS-related disorder [RCV004533531]|not provided [RCV000918628] | Chr20:58891744 [GRCh38] Chr20:57466799 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.951C>T (p.Arg317=) | single nucleotide variant | McCune-Albright syndrome [RCV002487962]|not provided [RCV000896678]|not specified [RCV001818720] | Chr20:58910062 [GRCh38] Chr20:57485117 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.219C>T (p.Gly73=) | single nucleotide variant | not provided [RCV000963396] | Chr20:58898947 [GRCh38] Chr20:57474002 [GRCh37] Chr20:20q13.32 |
likely benign |
NC_000020.11:g.58854453_58854461dup | duplication | not provided [RCV000968774] | benign | |
NM_080425.4(GNAS):c.525T>C (p.Ser175=) | single nucleotide variant | not provided [RCV000961706]|not specified [RCV001699483] | Chr20:58853790 [GRCh38] Chr20:57428845 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV000785915] | Chr20:58903573 [GRCh38] Chr20:57478628 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.970+2T>C | single nucleotide variant | not provided [RCV000799307] | Chr20:58910083 [GRCh38] Chr20:57485138 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) | single nucleotide variant | GNAS-related disorder [RCV004735924]|McCune-Albright syndrome [RCV000990321]|Pseudohypoparathyroidism type 1C [RCV003227882] | Chr20:58853770 [GRCh38] Chr20:57428825 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter) | single nucleotide variant | Pseudohypoparathyroidism [RCV000787033] | Chr20:58903550 [GRCh38] Chr20:57478605 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.139+1G>C | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001095787]|not provided [RCV002557972] | Chr20:58891866 [GRCh38] Chr20:57466921 [GRCh37] Chr20:20q13.32 |
pathogenic |
NC_000020.10:g.(?_56993257)_(57967907_?)dup | duplication | Amyotrophic lateral sclerosis type 8 [RCV004579447] | Chr20:56993257..57967907 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-5126G>A | single nucleotide variant | not provided [RCV004585640] | Chr20:58890486 [GRCh38] Chr20:57465541 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.2069-5381G>A | single nucleotide variant | not provided [RCV004585773] | Chr20:58890231 [GRCh38] Chr20:57465286 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.801_802dup (p.Glu268fs) | duplication | not provided [RCV001009205] | Chr20:58909765..58909766 [GRCh38] Chr20:57484820..57484821 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080425.4(GNAS):c.1642G>A (p.Ala548Thr) | single nucleotide variant | GNAS-related disorder [RCV004528382]|not provided [RCV001090863] | Chr20:58854907 [GRCh38] Chr20:57429962 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1039-4G>C | single nucleotide variant | not provided [RCV000915365] | Chr20:58910679 [GRCh38] Chr20:57485734 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg) | single nucleotide variant | Pseudohypoparathyroidism [RCV000850178]|Pseudohypoparathyroidism type 1C [RCV005054277] | Chr20:58891863 [GRCh38] Chr20:57466918 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_080425.4(GNAS):c.66C>T (p.Ile22=) | single nucleotide variant | not provided [RCV004809125] | Chr20:58853331 [GRCh38] Chr20:57428386 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.647A>T (p.Lys216Ile) | single nucleotide variant | not provided [RCV003318098] | Chr20:58909411 [GRCh38] Chr20:57484466 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) | single nucleotide variant | McCune-Albright syndrome [RCV002491595]|Pseudohypoparathyroidism type 1B [RCV001196583] | Chr20:58854588 [GRCh38] Chr20:57429643 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.531-2A>T | single nucleotide variant | not provided [RCV001200155] | Chr20:58909160 [GRCh38] Chr20:57484215 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) | single nucleotide variant | GNAS-related disorder [RCV004528410]|McCune-Albright syndrome [RCV002497679]|Pseudohypoparathyroidism type 1B [RCV001197837]|Pseudohypoparathyroidism type 1C [RCV003227930] | Chr20:58854541 [GRCh38] Chr20:57429596 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.541A>G (p.Lys181Glu) | single nucleotide variant | not provided [RCV003126964] | Chr20:58909172 [GRCh38] Chr20:57484227 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.149A>C (p.Glu50Ala) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004788497] | Chr20:58895621 [GRCh38] Chr20:57470676 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.751G>C (p.Gly251Arg) | single nucleotide variant | not specified [RCV003123394] | Chr20:58854016 [GRCh38] Chr20:57429071 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1130A>G (p.Asn377Ser) | single nucleotide variant | not provided [RCV001575960] | Chr20:58910774 [GRCh38] Chr20:57485829 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2068+180A>T | single nucleotide variant | not provided [RCV001665463] | Chr20:58855513 [GRCh38] Chr20:57430568 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) | single nucleotide variant | GNAS-related disorder [RCV004542017]|McCune-Albright syndrome [RCV002501916]|not provided [RCV001568915] | Chr20:58854660 [GRCh38] Chr20:57429715 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.101A>C (p.Lys34Thr) | single nucleotide variant | not provided [RCV001572222] | Chr20:58891827 [GRCh38] Chr20:57466882 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1095C>T (p.Cys365=) | single nucleotide variant | GNAS-related disorder [RCV004540613]|not provided [RCV003106932] | Chr20:58910739 [GRCh38] Chr20:57485794 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.294C>T (p.Pro98=) | single nucleotide variant | not provided [RCV001572666]|not specified [RCV001699818] | Chr20:58840400 [GRCh38] Chr20:57415455 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) | single nucleotide variant | McCune-Albright syndrome [RCV002501927]|not provided [RCV001572855] | Chr20:58854693 [GRCh38] Chr20:57429748 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr) | single nucleotide variant | not provided [RCV001570530] | Chr20:58903577 [GRCh38] Chr20:57478632 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_080425.4(GNAS):c.2069-5414GAA[7] | microsatellite | not provided [RCV004811793] | Chr20:58890197..58890198 [GRCh38] Chr20:57465252..57465253 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.2069-5722A>T | single nucleotide variant | not provided [RCV004810260] | Chr20:58889890 [GRCh38] Chr20:57464945 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.2069-5336CGA[3] | microsatellite | not provided [RCV004810299] | Chr20:58890276..58890278 [GRCh38] Chr20:57465331..57465333 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.192_195del (p.Phe64fs) | deletion | not provided [RCV003239198] | Chr20:58840295..58840298 [GRCh38] Chr20:57415350..57415353 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.840-72C>T | single nucleotide variant | not provided [RCV001677330] | Chr20:58909879 [GRCh38] Chr20:57484934 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.432+93G>A | single nucleotide variant | not provided [RCV001639020] | Chr20:58903884 [GRCh38] Chr20:58903884..58903885 [GRCh38] Chr20:57478939 [GRCh37] Chr20:57478939..57478940 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.936T>C (p.Phe312=) | single nucleotide variant | GNAS-related disorder [RCV004536257]|McCune-Albright syndrome [RCV002496023]|not provided [RCV001699761] | Chr20:58910047 [GRCh38] Chr20:57485102 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1117del (p.Arg373fs) | deletion | not provided [RCV001597554] | Chr20:58910760 [GRCh38] Chr20:57485815 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.258-138A>T | single nucleotide variant | not provided [RCV001649550] | Chr20:58903393 [GRCh38] Chr20:57478448 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.-106T>G | single nucleotide variant | not provided [RCV001691498] | Chr20:58853160 [GRCh38] Chr20:57428215 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.2069-4321C>T | single nucleotide variant | not provided [RCV001713842] | Chr20:58891291 [GRCh38] Chr20:57466346 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.357G>A (p.Leu119=) | single nucleotide variant | McCune-Albright syndrome [RCV002506737]|not provided [RCV001700611] | Chr20:58903716 [GRCh38] Chr20:57478771 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_016592.5(GNAS):c.*42+26G>A | single nucleotide variant | not provided [RCV001544950] | Chr20:58840912 [GRCh38] Chr20:57415967 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1335G>A (p.Ala445=) | single nucleotide variant | not provided [RCV001572687] | Chr20:58854600 [GRCh38] Chr20:57429655 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+2T>C | single nucleotide variant | not provided [RCV001582201] | Chr20:58891867 [GRCh38] Chr20:57466922 [GRCh37] Chr20:20q13.32 |
pathogenic |
NC_000020.11:g.58854498_58854524del | deletion | not provided [RCV000962816] | benign | |
NM_000516.7(GNAS):c.159A>G (p.Lys53=) | single nucleotide variant | GNAS-related disorder [RCV004531018]|not provided [RCV000900166] | Chr20:58895631 [GRCh38] Chr20:57470686 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.417C>T (p.Asp139=) | single nucleotide variant | not provided [RCV000918512] | Chr20:58903776 [GRCh38] Chr20:57478831 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.984C>T (p.Pro328=) | single nucleotide variant | not provided [RCV000900711] | Chr20:58910347 [GRCh38] Chr20:57485402 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.33C>T (p.Asp11=) | single nucleotide variant | not provided [RCV000975413] | Chr20:58891759 [GRCh38] Chr20:57466814 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.9C>T (p.Cys3=) | single nucleotide variant | not provided [RCV000960992]|not specified [RCV001701381] | Chr20:58891735 [GRCh38] Chr20:57466790 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.531-7C>T | single nucleotide variant | GNAS-related disorder [RCV004735862]|not provided [RCV000886246] | Chr20:58909155 [GRCh38] Chr20:57484210 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+9G>C | single nucleotide variant | not provided [RCV000937170] | Chr20:58891874 [GRCh38] Chr20:57466929 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.130C>T (p.Leu44=) | single nucleotide variant | not provided [RCV000903915] | Chr20:58891856 [GRCh38] Chr20:57466911 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.60T>G (p.Arg20=) | single nucleotide variant | GNAS-related disorder [RCV004530947]|not provided [RCV000887703] | Chr20:58891786 [GRCh38] Chr20:57466841 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.72A>G (p.Lys24=) | single nucleotide variant | GNAS-related disorder [RCV004530948]|not provided [RCV000887704] | Chr20:58891798 [GRCh38] Chr20:57466853 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.75G>A (p.Lys25=) | single nucleotide variant | GNAS-related disorder [RCV004530949]|McCune-Albright syndrome [RCV002507573]|not provided [RCV000887705] | Chr20:58891801 [GRCh38] Chr20:57466856 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) | single nucleotide variant | GNAS-related disorder [RCV004541809]|McCune-Albright syndrome [RCV002501436]|not provided [RCV000887706] | Chr20:58891837 [GRCh38] Chr20:57466892 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.112C>A (p.Arg38=) | single nucleotide variant | GNAS-related disorder [RCV004541810]|not provided [RCV000887707] | Chr20:58891838 [GRCh38] Chr20:57466893 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.126C>G (p.Arg42=) | single nucleotide variant | GNAS-related disorder [RCV004735866]|not provided [RCV000887708] | Chr20:58891852 [GRCh38] Chr20:57466907 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.129G>C (p.Leu43=) | single nucleotide variant | GNAS-related disorder [RCV004735867]|not provided [RCV000887709] | Chr20:58891855 [GRCh38] Chr20:57466910 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.891C>T (p.Leu297=) | single nucleotide variant | GNAS-related disorder [RCV004533475]|not provided [RCV000908255] | Chr20:58910002 [GRCh38] Chr20:57485057 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.562del (p.Ala188fs) | deletion | not provided [RCV001221154] | Chr20:58909192 [GRCh38] Chr20:57484247 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1036C>T (p.Leu346=) | single nucleotide variant | GNAS-related disorder [RCV004533587]|not provided [RCV000933679] | Chr20:58910399 [GRCh38] Chr20:57485454 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1115T>C (p.Ile372Thr) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732175] | Chr20:58910759 [GRCh38] Chr20:57485814 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del) | deletion | GNAS-related disorder [RCV004538931]|not provided [RCV003236970] | Chr20:58840488..58840511 [GRCh38] Chr20:57415543..57415566 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.531-295C>G | single nucleotide variant | not provided [RCV001570381] | Chr20:58908867 [GRCh38] Chr20:57483922 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.689C>T (p.Ser230Phe) | single nucleotide variant | not provided [RCV001563164] | Chr20:58840795 [GRCh38] Chr20:57415850 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.998G>A (p.Arg333His) | single nucleotide variant | not provided [RCV001558622] | Chr20:58910361 [GRCh38] Chr20:57485416 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.479G>C (p.Arg160Pro) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV003108240]|not provided [RCV005099230] | Chr20:58905429 [GRCh38] Chr20:57480484 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|uncertain significance |
NM_080425.4(GNAS):c.1431_1456del (p.Ala478fs) | deletion | not provided [RCV002464939] | Chr20:58854693..58854718 [GRCh38] Chr20:57429748..57429773 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|uncertain significance |
NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV002468469] | Chr20:58854956 [GRCh38] Chr20:57430011 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn) | single nucleotide variant | GNAS-related disorder [RCV004534107]|Pseudohypoparathyroidism type 1C [RCV002468500] | Chr20:58854013 [GRCh38] Chr20:57429068 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.518_521del (p.Asp173fs) | deletion | not provided [RCV001553000] | Chr20:58905466..58905469 [GRCh38] Chr20:57480521..57480524 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.213-268C>T | single nucleotide variant | not provided [RCV001561384] | Chr20:58898673 [GRCh38] Chr20:57473728 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.2069-4340CCT[6] | microsatellite | not provided [RCV001547551] | Chr20:58891272..58891274 [GRCh38] Chr20:57466327..57466329 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1399G>T (p.Ala467Ser) | single nucleotide variant | GNAS-related disorder [RCV004541982]|not provided [RCV001530572] | Chr20:58854664 [GRCh38] Chr20:57429719 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.90G>A (p.Leu30=) | single nucleotide variant | not provided [RCV001727958]|not specified [RCV001699888] | Chr20:58891816 [GRCh38] Chr20:57466871 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_016592.5(GNAS):c.*42+21C>T | single nucleotide variant | not provided [RCV001659331] | Chr20:58840907 [GRCh38] Chr20:57415962 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.140-150G>A | single nucleotide variant | not provided [RCV001597632] | Chr20:58895462 [GRCh38] Chr20:57470517 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.2068+169A>T | single nucleotide variant | not provided [RCV001686441] | Chr20:58855502 [GRCh38] Chr20:57430557 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.432+287A>G | single nucleotide variant | not provided [RCV001619734] | Chr20:58904078 [GRCh38] Chr20:58904078..58904079 [GRCh38] Chr20:57479133 [GRCh37] Chr20:57479133..57479134 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.433-71G>T | single nucleotide variant | not provided [RCV001676790] | Chr20:58905312 [GRCh38] Chr20:57480367 [GRCh37] Chr20:20q13.32 |
benign |
NM_016592.5(GNAS):c.537G>A (p.Pro179=) | single nucleotide variant | GNAS-related disorder [RCV004536255]|McCune-Albright syndrome [RCV002506736]|not provided [RCV001726644]|not specified [RCV001699985] | Chr20:58840643 [GRCh38] Chr20:57415698 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.*136G>A | single nucleotide variant | not provided [RCV001636143] | Chr20:58910965 [GRCh38] Chr20:57486020 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) | single nucleotide variant | GNAS-related disorder [RCV004528525]|not provided [RCV001596612] | Chr20:58909206 [GRCh38] Chr20:57484261 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_000516.7(GNAS):c.312+36C>T | single nucleotide variant | Pseudohypoparathyroidism [RCV001007583] | Chr20:58903621 [GRCh38] Chr20:57478676 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.530+1G>T | single nucleotide variant | Pseudohypoparathyroidism [RCV001007584] | Chr20:58905481 [GRCh38] Chr20:57480536 [GRCh37] Chr20:20q13.32 |
pathogenic |
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 | copy number gain | not provided [RCV001007098] | Chr20:56788101..62762405 [GRCh37] Chr20:20q13.32-13.33 |
pathogenic |
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) | single nucleotide variant | GNAS-related disorder [RCV004536045]|Inborn genetic diseases [RCV002549273]|McCune-Albright syndrome [RCV002497329]|Pseudohypoparathyroidism [RCV001007922]|Pseudohypoparathyroidism type 1C [RCV003336225]|Pseudohypoparathyroidism type I A [RCV002283517]|Pseudopseudohypoparathyroidism [RCV004761863]|not provided [RCV001269956] | Chr20:58909552 [GRCh38] Chr20:57484607 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_016592.5(GNAS):c.*42+54A>G | single nucleotide variant | not provided [RCV001682102] | Chr20:58840940 [GRCh38] Chr20:57415995 [GRCh37] Chr20:20q13.32 |
benign |
NM_016592.5(GNAS):c.-52A>G | single nucleotide variant | not provided [RCV001695486] | Chr20:58840055 [GRCh38] Chr20:58840055..58840056 [GRCh38] Chr20:57415110 [GRCh37] Chr20:57415110..57415111 [GRCh37] Chr20:20q13.32 |
benign |
NM_016592.5(GNAS):c.-295C>G | single nucleotide variant | not provided [RCV001696245] | Chr20:58839812 [GRCh38] Chr20:57414867 [GRCh37] Chr20:20q13.32 |
benign |
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 | copy number gain | not provided [RCV001007097] | Chr20:55743522..62032989 [GRCh37] Chr20:20q13.31-13.33 |
pathogenic |
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) | single nucleotide variant | GNAS-related disorder [RCV004536205]|Inborn genetic diseases [RCV004039388]|McCune-Albright syndrome [RCV002488395]|not provided [RCV001572791] | Chr20:58853419 [GRCh38] Chr20:57428474 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.531-132T>C | single nucleotide variant | not provided [RCV001690623] | Chr20:58909030 [GRCh38] Chr20:57484085 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.140-247_140-243del | deletion | not provided [RCV001708133] | Chr20:58895362..58895366 [GRCh38] Chr20:57470417..57470421 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) | single nucleotide variant | Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis [RCV005253866]|GNAS-related disorder [RCV004734243]|McCune-Albright syndrome [RCV002488424]|not provided [RCV001585161] | Chr20:58910348 [GRCh38] Chr20:57485403 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.473G>A (p.Gly158Glu) | single nucleotide variant | not provided [RCV001200154] | Chr20:58905423 [GRCh38] Chr20:57480478 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_000516.7(GNAS):c.296del (p.Leu99fs) | deletion | Pseudohypoparathyroidism type 1B [RCV001196820] | Chr20:58903569 [GRCh38] Chr20:57478624 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_016592.5(GNAS):c.362C>T (p.Ser121Phe) | single nucleotide variant | GNAS-related disorder [RCV004726945]|Pseudohypoparathyroidism type 1B [RCV001198565] | Chr20:58840468 [GRCh38] Chr20:57415523 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 | copy number gain | not provided [RCV001537917] | Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33 |
pathogenic |
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) | deletion | Intellectual disability [RCV001255350]|Pseudohypoparathyroidism [RCV001253618] | Chr20:58854019..58854026 [GRCh38] Chr20:57429074..57429081 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.212+3_212+6del | deletion | Pseudohypoparathyroidism [RCV001260991] | Chr20:58895684..58895687 [GRCh38] Chr20:57470739..57470742 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.1005G>T (p.Pro335=) | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV001262637] | Chr20:58854270 [GRCh38] Chr20:57429325 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter) | single nucleotide variant | Inborn genetic diseases [RCV001267237]|not provided [RCV001760312] | Chr20:58891829 [GRCh38] Chr20:57466884 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.257+197_531-8del | deletion | Pseudopseudohypoparathyroidism [RCV001260996] | Chr20:58899177..58909149 [GRCh38] Chr20:57474232..57484204 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.5:c.(?_-424)_(257_?)dup | duplication | Pseudopseudohypoparathyroidism [RCV004800949] | pathogenic | |
NM_000516.7(GNAS):c.494G>A (p.Arg165His) | single nucleotide variant | not provided [RCV001269785] | Chr20:58905444 [GRCh38] Chr20:57480499 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_080425.4(GNAS):c.2069-4200A>G | single nucleotide variant | not provided [RCV001568252] | Chr20:58891412 [GRCh38] Chr20:58891412..58891413 [GRCh38] Chr20:57466467 [GRCh37] Chr20:57466467..57466468 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV001336870] | Chr20:58853518 [GRCh38] Chr20:57428573 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.432+1G>T | single nucleotide variant | McCune-Albright syndrome [RCV001329336] | Chr20:58903792 [GRCh38] Chr20:57478847 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.499_501del (p.Asn167del) | deletion | not provided [RCV001269717] | Chr20:58905448..58905450 [GRCh38] Chr20:57480503..57480505 [GRCh37] Chr20:20q13.32 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000516.7(GNAS):c.31del (p.Asp11fs) | deletion | not provided [RCV001269973] | Chr20:58891756 [GRCh38] Chr20:57466811 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.178A>G (p.Met60Val) | single nucleotide variant | not provided [RCV001369325] | Chr20:58895650 [GRCh38] Chr20:57470705 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1680C>A (p.Gly560=) | single nucleotide variant | not provided [RCV001795783] | Chr20:58854945 [GRCh38] Chr20:57430000 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1524C>T (p.Ala508=) | single nucleotide variant | GNAS-related disorder [RCV004734273]|not provided [RCV001795792]|not specified [RCV001796935] | Chr20:58854789 [GRCh38] Chr20:57429844 [GRCh37] Chr20:20q13.32 |
benign|likely benign|uncertain significance |
NM_080425.4(GNAS):c.1146C>T (p.Ala382=) | single nucleotide variant | McCune-Albright syndrome [RCV005400517]|not provided [RCV001794791] | Chr20:58854411 [GRCh38] Chr20:57429466 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.422C>G (p.Pro141Arg) | single nucleotide variant | not provided [RCV001358427] | Chr20:58853687 [GRCh38] Chr20:57428742 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NC_000020.10:g.(?_56993257)_(57967907_?)dup | duplication | Amyotrophic lateral sclerosis type 8 [RCV001324796] | Chr20:56993257..57967907 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs) | deletion | Pseudohypoparathyroidism [RCV001335369]|not provided [RCV002546729] | Chr20:58910751..58910752 [GRCh38] Chr20:57485806..57485807 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del) | microsatellite | Pseudopseudohypoparathyroidism [RCV001289548] | Chr20:58909984..58909986 [GRCh38] Chr20:57485039..57485041 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.329T>C (p.Met110Thr) | single nucleotide variant | not provided [RCV001353366] | Chr20:58903688 [GRCh38] Chr20:57478743 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.555C>T (p.Ile185=) | single nucleotide variant | not provided [RCV001514029]|not specified [RCV001700768] | Chr20:58909186 [GRCh38] Chr20:57484241 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) | single nucleotide variant | not provided [RCV001514030]|not specified [RCV001699795] | Chr20:58910757 [GRCh38] Chr20:57485812 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.955GAC[1] (p.Asp320del) | microsatellite | not provided [RCV001528248] | Chr20:58854219..58854221 [GRCh38] Chr20:57429274..57429276 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) | single nucleotide variant | GNAS-related disorder [RCV004734181]|McCune-Albright syndrome [RCV002476746]|not provided [RCV001420663] | Chr20:58854395 [GRCh38] Chr20:57429450 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.794G>A (p.Arg265His) | single nucleotide variant | GNAS-related disorder [RCV004734159]|Pseudohypoparathyroidism type I A [RCV001732169]|not provided [RCV001379069] | Chr20:58909759 [GRCh38] Chr20:57484814 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000516.7(GNAS):c.139+1G>A | single nucleotide variant | not provided [RCV001384387] | Chr20:58891866 [GRCh38] Chr20:57466921 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.114G>A (p.Arg38=) | single nucleotide variant | GNAS-related disorder [RCV004540330]|not provided [RCV001439276] | Chr20:58891840 [GRCh38] Chr20:57466895 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1039-127T>C | single nucleotide variant | not provided [RCV001714695] | Chr20:58910556 [GRCh38] Chr20:57485611 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.2068+89C>G | single nucleotide variant | not provided [RCV001649602] | Chr20:58855422 [GRCh38] Chr20:57430477 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.257+159A>G | single nucleotide variant | not provided [RCV001649644] | Chr20:58899144 [GRCh38] Chr20:57474199 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.897C>A (p.Ser299Arg) | single nucleotide variant | GNAS-related disorder [RCV004536260]|not provided [RCV001700561] | Chr20:58854162 [GRCh38] Chr20:57429217 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.585+55C>G | single nucleotide variant | not provided [RCV001671877] | Chr20:58909271 [GRCh38] Chr20:57484326 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.2069-4371GCC[7] | microsatellite | not provided [RCV001698633] | Chr20:58891240..58891241 [GRCh38] Chr20:57466295..57466296 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) | single nucleotide variant | GNAS-related disorder [RCV004734244]|McCune-Albright syndrome [RCV002501956]|not provided [RCV001589997] | Chr20:58891817 [GRCh38] Chr20:57466872 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.432+2_432+15del | deletion | not provided [RCV001587176] | Chr20:58903789..58903802 [GRCh38] Chr20:57478844..57478857 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.531-269G>A | single nucleotide variant | not provided [RCV001609915] | Chr20:58908893 [GRCh38] Chr20:57483948 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.586-42G>A | single nucleotide variant | not provided [RCV001590203] | Chr20:58909308 [GRCh38] Chr20:57484363 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.432+15G>A | single nucleotide variant | not provided [RCV001520420] | Chr20:58903806 [GRCh38] Chr20:57478861 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del) | deletion | Pseudohypoparathyroidism type 1C [RCV001376073] | Chr20:58903759..58903767 [GRCh38] Chr20:57478814..57478822 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_016592.5(GNAS):c.58dup (p.Leu20fs) | duplication | GNAS-related disorder [RCV004536305]|not provided [RCV001755693] | Chr20:58840162..58840163 [GRCh38] Chr20:57415217..57415218 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732162] | Chr20:58910794 [GRCh38] Chr20:57485849 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732172] | Chr20:58910684 [GRCh38] Chr20:57485739 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.576G>T (p.Pro192=) | single nucleotide variant | McCune-Albright syndrome [RCV002506753]|not provided [RCV001730361]|not specified [RCV001730362] | Chr20:58909207 [GRCh38] Chr20:57484262 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732163]|not provided [RCV003558827] | Chr20:58905439 [GRCh38] Chr20:57480494 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732164] | Chr20:58905457 [GRCh38] Chr20:57480512 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.917C>T (p.Ser306Leu) | single nucleotide variant | GNAS-related disorder [RCV004531185]|Pseudohypoparathyroidism type I A [RCV001732170] | Chr20:58910028 [GRCh38] Chr20:57485083 [GRCh37] Chr20:20q13.32 |
pathogenic|uncertain significance |
NM_000516.7(GNAS):c.1039-1G>A | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV002251256] | Chr20:58910682 [GRCh38] Chr20:57485737 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.791A>G (p.Asn264Ser) | single nucleotide variant | not provided [RCV001755632] | Chr20:58909756 [GRCh38] Chr20:57484811 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1067G>A (p.Arg356His) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732174] | Chr20:58910711 [GRCh38] Chr20:57485766 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.154G>A (p.Gly52Ser) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV002226845] | Chr20:58895626 [GRCh38] Chr20:57470681 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV002227596] | Chr20:58855138 [GRCh38] Chr20:57430193 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.355dup (p.Ile119fs) | duplication | not provided [RCV001755663] | Chr20:58840458..58840459 [GRCh38] Chr20:57415513..57415514 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.124C>A (p.Arg42Ser) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732160] | Chr20:58891850 [GRCh38] Chr20:57466905 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732167]|not provided [RCV003130513] | Chr20:58909563 [GRCh38] Chr20:57484618 [GRCh37] Chr20:20q13.32 |
pathogenic|uncertain significance |
NM_000516.7(GNAS):c.773G>T (p.Arg258Leu) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732168] | Chr20:58909738 [GRCh38] Chr20:57484793 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1130A>C (p.Asn377Thr) | single nucleotide variant | not provided [RCV001755436] | Chr20:58910774 [GRCh38] Chr20:57485829 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-5153G>A | single nucleotide variant | not provided [RCV005242673] | Chr20:58890459 [GRCh38] Chr20:57465514 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.595C>T (p.Arg199Cys) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732165] | Chr20:58909359 [GRCh38] Chr20:57484414 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.127C>G (p.Leu43Val) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732161] | Chr20:58891853 [GRCh38] Chr20:57466908 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys) | single nucleotide variant | GNAS-related disorder [RCV004734158]|Pseudohypoparathyroidism type 1B [RCV003989689]|Pseudohypoparathyroidism type I A [RCV001732166]|not provided [RCV002254963] | Chr20:58909543 [GRCh38] Chr20:57484598 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001732173] | Chr20:58910701 [GRCh38] Chr20:57485756 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080425.4(GNAS):c.2068+160_2068+161insTT | insertion | not provided [RCV001732248] | Chr20:58855492..58855493 [GRCh38] Chr20:57430547..57430548 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.1397_1398insC (p.Ala467fs) | insertion | not specified [RCV002247869] | Chr20:58854662..58854663 [GRCh38] Chr20:57429717..57429718 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.410C>T (p.Pro137Leu) | single nucleotide variant | not provided [RCV001776760] | Chr20:58840516 [GRCh38] Chr20:57415571 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.470_472del (p.Glu157del) | deletion | Pseudohypoparathyroidism type I A [RCV002255782] | Chr20:58905419..58905421 [GRCh38] Chr20:57480474..57480476 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_000516.7(GNAS):c.662T>C (p.Met221Thr) | single nucleotide variant | not provided [RCV001759169] | Chr20:58909523 [GRCh38] Chr20:57484578 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1007G>A (p.Arg336Gln) | single nucleotide variant | GNAS-related disorder [RCV004536306]|not provided [RCV001779725] | Chr20:58910370 [GRCh38] Chr20:57485425 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.580G>A (p.Asp194Asn) | single nucleotide variant | not provided [RCV001774940] | Chr20:58909211 [GRCh38] Chr20:57484266 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.514G>A (p.Asp172Asn) | single nucleotide variant | GNAS-related disorder [RCV004734272]|not provided [RCV001795523] | Chr20:58840620 [GRCh38] Chr20:57415675 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_080425.4(GNAS):c.207A>G (p.Gly69=) | single nucleotide variant | not provided [RCV001768429] | Chr20:58853472 [GRCh38] Chr20:57428527 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.356T>G (p.Ile119Ser) | single nucleotide variant | not provided [RCV001776354] | Chr20:58840462 [GRCh38] Chr20:57415517 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1001G>A (p.Gly334Asp) | single nucleotide variant | not provided [RCV001795499] | Chr20:58854266 [GRCh38] Chr20:57429321 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.821C>T (p.Pro274Leu) | single nucleotide variant | not provided [RCV001795730] | Chr20:58854086 [GRCh38] Chr20:57429141 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.441G>A (p.Pro147=) | single nucleotide variant | not provided [RCV001796924]|not specified [RCV001795495] | Chr20:58840547 [GRCh38] Chr20:57415602 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.677G>A (p.Gly226Asp) | single nucleotide variant | not provided [RCV001757336] | Chr20:58909538 [GRCh38] Chr20:57484593 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_080425.4(GNAS):c.2068+219A>G | single nucleotide variant | not provided [RCV001776738] | Chr20:58855552 [GRCh38] Chr20:57430607 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) | single nucleotide variant | McCune-Albright syndrome [RCV002488612]|not provided [RCV001757415] | Chr20:58854540 [GRCh38] Chr20:57429595 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.314C>T (p.Thr105Ile) | single nucleotide variant | not provided [RCV001817674] | Chr20:58903673 [GRCh38] Chr20:57478728 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.55C>T (p.Gln19Ter) | single nucleotide variant | not provided [RCV001817685] | Chr20:58891781 [GRCh38] Chr20:57466836 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.880dup (p.Gln294fs) | duplication | Progressive osseous heteroplasia [RCV001808886] | Chr20:58909990..58909991 [GRCh38] Chr20:57485045..57485046 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.823A>G (p.Ser275Gly) | single nucleotide variant | not provided [RCV001819306] | Chr20:58909788 [GRCh38] Chr20:57484843 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.124dup (p.Arg42fs) | duplication | Pseudohypoparathyroidism type 1C [RCV001814752] | Chr20:58891848..58891849 [GRCh38] Chr20:57466903..57466904 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.283del (p.Ile95fs) | deletion | not provided [RCV001817702] | Chr20:58903556 [GRCh38] Chr20:57478611 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1012_1013insT (p.Lys338fs) | insertion | not provided [RCV001817979] | Chr20:58910375..58910376 [GRCh38] Chr20:57485430..57485431 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.257+5G>A | single nucleotide variant | not specified [RCV001822359] | Chr20:58898990 [GRCh38] Chr20:57474045 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.809_810del (p.Leu270fs) | deletion | Pseudohypoparathyroidism type I A [RCV004799099] | Chr20:58909774..58909775 [GRCh38] Chr20:57484829..57484830 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.756C>A (p.Ser252Arg) | single nucleotide variant | not provided [RCV001814877] | Chr20:58909721 [GRCh38] Chr20:57484776 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.3G>T (p.Met1Ile) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV001806426] | Chr20:58891729 [GRCh38] Chr20:57466784 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.212+1_212+3del | deletion | Pseudopseudohypoparathyroidism [RCV001814684] | Chr20:58895684..58895686 [GRCh38] Chr20:57470739..57470741 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.312delA (p.Thr105fs) | deletion | not provided [RCV001946704] | Chr20:58903584 [GRCh38] Chr20:57478639 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.312+5G>A | single nucleotide variant | GNAS-related disorder [RCV004542142]|not provided [RCV001874011] | Chr20:58903590 [GRCh38] Chr20:57478645 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1068dup (p.His357fs) | duplication | not provided [RCV001967920] | Chr20:58910711..58910712 [GRCh38] Chr20:57485766..57485767 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.536T>G (p.Leu179Arg) | single nucleotide variant | not provided [RCV002040895] | Chr20:58909167 [GRCh38] Chr20:57484222 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.-18_-16GCC[9] | microsatellite | GNAS-related disorder [RCV004536351]|not provided [RCV001837129] | Chr20:58891706..58891707 [GRCh38] Chr20:57466761..57466762 [GRCh37] Chr20:20q13.32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000516.7(GNAS):c.950G>A (p.Arg317His) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV002052086] | Chr20:58910061 [GRCh38] Chr20:57485116 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365) | copy number loss | not specified [RCV002052712] | Chr20:55292205..57866365 [GRCh37] Chr20:20q13.31-13.32 |
pathogenic |
NM_000516.7(GNAS):c.458T>A (p.Leu153Gln) | single nucleotide variant | not provided [RCV002005759] | Chr20:58905408 [GRCh38] Chr20:57480463 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) | copy number gain | not specified [RCV002052713] | Chr20:56835739..62915555 [GRCh37] Chr20:20q13.32-13.33 |
pathogenic |
NC_000020.10:g.(?_57484385)_(57485156_?)del | deletion | not provided [RCV001949473] | Chr20:57484385..57485156 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1128del (p.Phe376fs) | deletion | not provided [RCV002024717] | Chr20:58910772 [GRCh38] Chr20:57485827 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.458T>G (p.Leu153Arg) | single nucleotide variant | not provided [RCV001914214] | Chr20:58905408 [GRCh38] Chr20:57480463 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) | single nucleotide variant | not provided [RCV001959665] | Chr20:58909994 [GRCh38] Chr20:57485049 [GRCh37] Chr20:20q13.32 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000516.7(GNAS):c.928del (p.Asp310fs) | deletion | not provided [RCV001944565] | Chr20:58910038 [GRCh38] Chr20:57485093 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1024C>T (p.Arg342Ter) | single nucleotide variant | McCune-Albright syndrome [RCV005032006]|not provided [RCV001962955] | Chr20:58910387 [GRCh38] Chr20:57485442 [GRCh37] Chr20:20q13.32 |
pathogenic |
NC_000020.10:g.(?_54823900)_(57899514_?)del | deletion | not provided [RCV001900543] | Chr20:54823900..57899514 [GRCh37] Chr20:20q13.2-13.32 |
uncertain significance |
NM_000516.7(GNAS):c.301G>A (p.Glu101Lys) | single nucleotide variant | not provided [RCV001870487] | Chr20:58903574 [GRCh38] Chr20:57478629 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.348del (p.Val117fs) | deletion | Progressive osseous heteroplasia [RCV002273842]|Pseudohypoparathyroidism [RCV002273841]|not provided [RCV001876377] | Chr20:58903702 [GRCh38] Chr20:57478757 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) | single nucleotide variant | McCune-Albright syndrome [RCV002479482]|not provided [RCV001931633] | Chr20:58903726 [GRCh38] Chr20:57478781 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.679C>T (p.Gln227Ter) | single nucleotide variant | not provided [RCV001951289] | Chr20:58909540 [GRCh38] Chr20:57484595 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.139+3_139+4delinsGC | indel | not provided [RCV002051010] | Chr20:58891868..58891869 [GRCh38] Chr20:57466923..57466924 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.21dup (p.Lys8Ter) | duplication | not provided [RCV001915812] | Chr20:58891746..58891747 [GRCh38] Chr20:57466801..57466802 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.659+1G>A | single nucleotide variant | not provided [RCV002015758] | Chr20:58909424 [GRCh38] Chr20:57484479 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV003138029]|Pseudohypoparathyroidism type I A [RCV005235629]|not provided [RCV002015767] | Chr20:58910369 [GRCh38] Chr20:57485424 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.461G>A (p.Trp154Ter) | single nucleotide variant | not provided [RCV001972496] | Chr20:58905411 [GRCh38] Chr20:57480466 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.343C>T (p.Pro115Ser) | single nucleotide variant | not provided [RCV001958988] | Chr20:58903702 [GRCh38] Chr20:57478757 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.739G>A (p.Val247Met) | single nucleotide variant | GNAS-related disorder [RCV004728930]|not provided [RCV001939963] | Chr20:58909704 [GRCh38] Chr20:57484759 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.91_93del (p.Gln31del) | deletion | not provided [RCV001924464] | Chr20:58891816..58891818 [GRCh38] Chr20:57466871..57466873 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.432+2T>G | single nucleotide variant | not provided [RCV001939673] | Chr20:58903793 [GRCh38] Chr20:57478848 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.157A>G (p.Lys53Glu) | single nucleotide variant | not provided [RCV001994567] | Chr20:58895629 [GRCh38] Chr20:57470684 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.840-17G>A | single nucleotide variant | not provided [RCV002193042] | Chr20:58909934 [GRCh38] Chr20:57484989 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.201G>A (p.Gly67=) | single nucleotide variant | GNAS-related disorder [RCV004543743]|not provided [RCV002207567] | Chr20:58895673 [GRCh38] Chr20:57470728 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1352C>A (p.Ala451Asp) | single nucleotide variant | GNAS-related disorder [RCV004734477]|not provided [RCV002223672] | Chr20:58854617 [GRCh38] Chr20:57429672 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.252C>T (p.Ser84=) | single nucleotide variant | GNAS-related disorder [RCV004543809]|not provided [RCV002127184] | Chr20:58898980 [GRCh38] Chr20:57474035 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.310G>T (p.Glu104Ter) | single nucleotide variant | not provided [RCV002223452] | Chr20:58903583 [GRCh38] Chr20:57478638 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.840-12C>A | single nucleotide variant | not provided [RCV002084710] | Chr20:58909939 [GRCh38] Chr20:57484994 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV002250022] | Chr20:58909360 [GRCh38] Chr20:57484415 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.602dup (p.Val202fs) | duplication | Pseudohypoparathyroidism type I A [RCV002250023] | Chr20:58909365..58909366 [GRCh38] Chr20:57484420..57484421 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.549C>T (p.Asp183=) | single nucleotide variant | GNAS-related disorder [RCV004734406]|not provided [RCV002087159] | Chr20:58909180 [GRCh38] Chr20:57484235 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.999C>T (p.Arg333=) | single nucleotide variant | not provided [RCV002191247] | Chr20:58910362 [GRCh38] Chr20:57485417 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.669C>T (p.Asp223=) | single nucleotide variant | not provided [RCV002073529] | Chr20:58909530 [GRCh38] Chr20:57484585 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.660-19C>T | single nucleotide variant | McCune-Albright syndrome [RCV002500320]|not provided [RCV002153672] | Chr20:58909502 [GRCh38] Chr20:57484557 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.213-11C>T | single nucleotide variant | McCune-Albright syndrome [RCV002500264]|not provided [RCV002128938] | Chr20:58898930 [GRCh38] Chr20:57473985 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.363C>T (p.Asn121=) | single nucleotide variant | not provided [RCV002208085] | Chr20:58903722 [GRCh38] Chr20:57478777 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.718+9C>T | single nucleotide variant | not provided [RCV002149830] | Chr20:58909588 [GRCh38] Chr20:57484643 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.312+19T>C | single nucleotide variant | not provided [RCV002134615] | Chr20:58903604 [GRCh38] Chr20:57478659 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.738C>T (p.Phe246=) | single nucleotide variant | GNAS-related disorder [RCV004531299]|McCune-Albright syndrome [RCV002494102]|not provided [RCV002195461] | Chr20:58909703 [GRCh38] Chr20:57484758 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.660-15C>A | single nucleotide variant | McCune-Albright syndrome [RCV002500196]|not provided [RCV002116353] | Chr20:58909506 [GRCh38] Chr20:57484561 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.839+15C>T | single nucleotide variant | not provided [RCV002213902] | Chr20:58909819 [GRCh38] Chr20:57484874 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.530+11G>A | single nucleotide variant | GNAS-related disorder [RCV004734461]|Inborn genetic diseases [RCV003053466]|McCune-Albright syndrome [RCV002494397]|not provided [RCV002116615] | Chr20:58905491 [GRCh38] Chr20:57480546 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.312+17T>C | single nucleotide variant | McCune-Albright syndrome [RCV002508103]|not provided [RCV002131404] | Chr20:58903602 [GRCh38] Chr20:57478657 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.258-7A>C | single nucleotide variant | GNAS-related disorder [RCV004531455]|McCune-Albright syndrome [RCV002500185]|not provided [RCV002132772] | Chr20:58903524 [GRCh38] Chr20:57478579 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1038+17_1038+20del | deletion | McCune-Albright syndrome [RCV002480959]|not provided [RCV002127360] | Chr20:58910418..58910421 [GRCh38] Chr20:57485473..57485476 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.570T>C (p.Tyr190=) | single nucleotide variant | not provided [RCV002137176]|not specified [RCV005058040] | Chr20:58909201 [GRCh38] Chr20:57484256 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.840-18C>T | single nucleotide variant | not provided [RCV002104217] | Chr20:58909933 [GRCh38] Chr20:57484988 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.803C>G (p.Pro268Arg) | single nucleotide variant | not specified [RCV002247868] | Chr20:58854068 [GRCh38] Chr20:57429123 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1039-4G>A | single nucleotide variant | GNAS-related disorder [RCV004734444]|McCune-Albright syndrome [RCV002494250]|not provided [RCV002117456] | Chr20:58910679 [GRCh38] Chr20:57485734 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.683G>A (p.Arg228His) | single nucleotide variant | McCune-Albright syndrome [RCV002488630]|not provided [RCV002247220] | Chr20:58909544 [GRCh38] Chr20:57484599 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.586-12A>G | single nucleotide variant | not provided [RCV002117987] | Chr20:58909338 [GRCh38] Chr20:57484393 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV002272602] | Chr20:58909956 [GRCh38] Chr20:57485011 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.1039-5C>T | single nucleotide variant | GNAS-related disorder [RCV004531496]|not provided [RCV002138721] | Chr20:58910678 [GRCh38] Chr20:57485733 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.433-9C>G | single nucleotide variant | not provided [RCV002201489] | Chr20:58905374 [GRCh38] Chr20:57480429 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.136C>T (p.Leu46=) | single nucleotide variant | GNAS-related disorder [RCV004734445]|McCune-Albright syndrome [RCV002494255]|not provided [RCV002117728] | Chr20:58891862 [GRCh38] Chr20:57466917 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.579C>T (p.Ser193=) | single nucleotide variant | not provided [RCV002120397] | Chr20:58909210 [GRCh38] Chr20:57484265 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+18del | deletion | not provided [RCV002122865] | Chr20:58891878 [GRCh38] Chr20:57466933 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.718+17T>C | single nucleotide variant | not provided [RCV002219826] | Chr20:58909596 [GRCh38] Chr20:57484651 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.226G>C (p.Asp76His) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV004785218] | Chr20:58898954 [GRCh38] Chr20:57474009 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.124C>G (p.Arg42Gly) | single nucleotide variant | Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis [RCV004783154] | Chr20:58891850 [GRCh38] Chr20:57466905 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NC_000020.10:g.(?_57466782)_(57485884_?)del | deletion | not provided [RCV003111327] | Chr20:57466782..57485884 [GRCh37] Chr20:20q13.32 |
pathogenic |
NC_000020.10:g.(?_57466782)_(57466940_?)del | deletion | not provided [RCV003111328] | Chr20:57466782..57466940 [GRCh37] Chr20:20q13.32 |
pathogenic |
NC_000020.10:g.(?_57478707)_(57478866_?)del | deletion | not provided [RCV003111329] | Chr20:57478707..57478866 [GRCh37] Chr20:20q13.32 |
pathogenic |
NC_000020.10:g.(?_57466782)_(57466940_?)dup | duplication | not provided [RCV003111330] | Chr20:57466782..57466940 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NC_000020.10:g.(?_57485079)_(57487993_?)del | deletion | not provided [RCV003111331] | Chr20:57485079..57487993 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.153del (p.Gly52fs) | deletion | Progressive osseous heteroplasia [RCV004788261] | Chr20:58895625 [GRCh38] Chr20:57470680 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.992A>T (p.Asp331Val) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004788459] | Chr20:58910355 [GRCh38] Chr20:57485410 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.476T>C (p.Val159Ala) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004789889] | Chr20:58905426 [GRCh38] Chr20:57480481 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV002245509] | Chr20:58840113 [GRCh38] Chr20:57415168 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG | indel | Pseudohypoparathyroidism type I A [RCV002259424] | Chr20:58909655..58909671 [GRCh38] Chr20:57484710..57484726 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.446A>G (p.His149Arg) | single nucleotide variant | GNAS-related disorder [RCV004533998]|Pseudohypoparathyroidism type I A [RCV002253068]|not provided [RCV004763344] | Chr20:58905396 [GRCh38] Chr20:57480451 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_000516.7(GNAS):c.325G>A (p.Ala109Thr) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV005254049]|not provided [RCV002279089] | Chr20:58903684 [GRCh38] Chr20:57478739 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.266AGG[1] (p.Glu90del) | microsatellite | not provided [RCV002276257] | Chr20:58840371..58840373 [GRCh38] Chr20:57415426..57415428 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.284T>A (p.Ile95Asn) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV002283915] | Chr20:58903557 [GRCh38] Chr20:57478612 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV003447623]|not provided [RCV002265100] | Chr20:58903748 [GRCh38] Chr20:57478803 [GRCh37] Chr20:20q13.32 |
pathogenic|uncertain significance |
NM_016592.5(GNAS):c.470_474dup (p.Leu159fs) | duplication | not provided [RCV002284847] | Chr20:58840573..58840574 [GRCh38] Chr20:57415628..57415629 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.390_425del (p.Thr131_Glu142del) | deletion | not provided [RCV002266747] | Chr20:58840481..58840516 [GRCh38] Chr20:57415536..57415571 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.730C>T (p.Arg244Ter) | single nucleotide variant | not provided [RCV002265241] | Chr20:58853995 [GRCh38] Chr20:57429050 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1340C>T (p.Pro447Leu) | single nucleotide variant | not provided [RCV002288127] | Chr20:58854605 [GRCh38] Chr20:57429660 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.207A>T (p.Gly69=) | single nucleotide variant | not provided [RCV002293057] | Chr20:58853472 [GRCh38] Chr20:57428527 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.460_461del (p.Trp154fs) | microsatellite | Pseudohypoparathyroidism type 1C [RCV002284004] | Chr20:58905408..58905409 [GRCh38] Chr20:57480463..57480464 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080425.4(GNAS):c.1738G>A (p.Glu580Lys) | single nucleotide variant | not provided [RCV002287067] | Chr20:58855003 [GRCh38] Chr20:57430058 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.415_418del (p.Asp139fs) | deletion | Pseudohypoparathyroidism type I A [RCV002283660] | Chr20:58903772..58903775 [GRCh38] Chr20:57478827..57478830 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.569_570del (p.Tyr190fs) | deletion | not provided [RCV002293719] | Chr20:58909199..58909200 [GRCh38] Chr20:57484254..57484255 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1100T>G (p.Val367Gly) | single nucleotide variant | not provided [RCV002297664] | Chr20:58910744 [GRCh38] Chr20:57485799 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs) | microsatellite | GNAS-related disorder [RCV004529118]|Pseudopseudohypoparathyroidism [RCV002282784] | Chr20:58910765..58910766 [GRCh38] Chr20:57485820..57485821 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080425.4(GNAS):c.2068+323_2068+353del | deletion | not provided [RCV002263269] | Chr20:58855653..58855683 [GRCh38] Chr20:57430708..57430738 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV002468488] | Chr20:58840719 [GRCh38] Chr20:57415774 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg) | single nucleotide variant | GNAS-related disorder [RCV004534037]|Inborn genetic diseases [RCV003097689]|not provided [RCV002285696] | Chr20:58854532 [GRCh38] Chr20:57429587 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1164G>T (p.Ala388=) | single nucleotide variant | not specified [RCV004587695] | Chr20:58854429 [GRCh38] Chr20:57429484 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.96G>A (p.Lys32=) | single nucleotide variant | not provided [RCV002727062] | Chr20:58891822 [GRCh38] Chr20:57466877 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1190C>A (p.Ala397Glu) | single nucleotide variant | not provided [RCV002461809] | Chr20:58854455 [GRCh38] Chr20:57429510 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly) | single nucleotide variant | GNAS-related disorder [RCV004545328]|Pseudohypoparathyroidism type 1C [RCV002468462]|not provided [RCV004546733] | Chr20:58853972 [GRCh38] Chr20:57429027 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV002468475] | Chr20:58854052 [GRCh38] Chr20:57429107 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV002468481] | Chr20:58855063 [GRCh38] Chr20:57430118 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.305dup (p.Met102fs) | duplication | not specified [RCV003230924] | Chr20:58853569..58853570 [GRCh38] Chr20:57428624..57428625 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.447T>C (p.His149=) | single nucleotide variant | GNAS-related disorder [RCV004735069] | Chr20:58905397 [GRCh38] Chr20:57480452 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1093T>C (p.Cys365Arg) | single nucleotide variant | not provided [RCV002296212] | Chr20:58910737 [GRCh38] Chr20:57485792 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.166A>T (p.Ile56Phe) | single nucleotide variant | not provided [RCV002305294] | Chr20:58895638 [GRCh38] Chr20:57470693 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.628A>G (p.Thr210Ala) | single nucleotide variant | not provided [RCV002300899] | Chr20:58909392 [GRCh38] Chr20:57484447 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.245del (p.Asn82fs) | deletion | not provided [RCV002305938] | Chr20:58853509 [GRCh38] Chr20:57428564 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.969C>T (p.Val323=) | single nucleotide variant | GNAS-related disorder [RCV004736292]|Inborn genetic diseases [RCV002840145] | Chr20:58854234 [GRCh38] Chr20:57429289 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.743T>A (p.Val248Glu) | single nucleotide variant | not provided [RCV003032748] | Chr20:58909708 [GRCh38] Chr20:57484763 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.10dup (p.Leu4fs) | duplication | not provided [RCV002880682] | Chr20:58891734..58891735 [GRCh38] Chr20:57466789..57466790 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.315C>T (p.Thr105=) | single nucleotide variant | not provided [RCV003033679] | Chr20:58903674 [GRCh38] Chr20:57478729 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.324C>T (p.Ala108=) | single nucleotide variant | GNAS-related disorder [RCV004540580]|not provided [RCV002616252] | Chr20:58903683 [GRCh38] Chr20:57478738 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.484T>C (p.Cys162Arg) | single nucleotide variant | Inborn genetic diseases [RCV002794396] | Chr20:58905434 [GRCh38] Chr20:57480489 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1121G>A (p.Arg374His) | single nucleotide variant | McCune-Albright syndrome [RCV005028126]|not provided [RCV003035037] | Chr20:58910765 [GRCh38] Chr20:57485820 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.860_861del (p.Val287fs) | microsatellite | Progressive osseous heteroplasia [RCV002510563]|Pseudohypoparathyroidism [RCV000017320]|not provided [RCV002513072] | Chr20:58909969..58909970 [GRCh38] Chr20:57485024..57485025 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.432+9C>T | single nucleotide variant | not provided [RCV002996650] | Chr20:58903800 [GRCh38] Chr20:57478855 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.5G>T (p.Gly2Val) | single nucleotide variant | not provided [RCV002842048] | Chr20:58891731 [GRCh38] Chr20:57466786 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.313-7T>C | single nucleotide variant | not provided [RCV002614705] | Chr20:58903665 [GRCh38] Chr20:57478720 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.585+17C>T | single nucleotide variant | not provided [RCV002881360] | Chr20:58909233 [GRCh38] Chr20:57484288 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser) | single nucleotide variant | Duane retraction syndrome [RCV003883209]|Inborn genetic diseases [RCV002946596]|not provided [RCV005256894] | Chr20:58854856 [GRCh38] Chr20:57429911 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.189G>A (p.Leu63=) | single nucleotide variant | not provided [RCV002880828] | Chr20:58895661 [GRCh38] Chr20:57470716 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.198T>G (p.Asn66Lys) | single nucleotide variant | not provided [RCV003034642] | Chr20:58895670 [GRCh38] Chr20:57470725 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.140-15dup | duplication | not provided [RCV002947300] | Chr20:58895596..58895597 [GRCh38] Chr20:57470651..57470652 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.699G>A (p.Lys233=) | single nucleotide variant | GNAS-related disorder [RCV004540576]|not provided [RCV002615532] | Chr20:58909560 [GRCh38] Chr20:57484615 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.45G>A (p.Glu15=) | single nucleotide variant | GNAS-related disorder [RCV004545375]|not provided [RCV002740249] | Chr20:58891771 [GRCh38] Chr20:57466826 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.318T>G (p.Ile106Met) | single nucleotide variant | not provided [RCV003003071] | Chr20:58903677 [GRCh38] Chr20:57478732 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.840-11C>T | single nucleotide variant | not provided [RCV002706351] | Chr20:58909940 [GRCh38] Chr20:57484995 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.140-6T>A | single nucleotide variant | not provided [RCV002796245] | Chr20:58895606 [GRCh38] Chr20:57470661 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.917G>A (p.Gly306Glu) | single nucleotide variant | Inborn genetic diseases [RCV002782457] | Chr20:58854182 [GRCh38] Chr20:57429237 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.757A>G (p.Ser253Gly) | single nucleotide variant | Inborn genetic diseases [RCV002783307] | Chr20:58854022 [GRCh38] Chr20:57429077 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.324C>G (p.Ala108=) | single nucleotide variant | GNAS-related disorder [RCV004536610]|not provided [RCV003100239] | Chr20:58903683 [GRCh38] Chr20:57478738 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.474_475dup (p.Val159fs) | duplication | not provided [RCV003038065] | Chr20:58905422..58905423 [GRCh38] Chr20:57480477..57480478 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1_2delinsGC (p.Met1Ala) | indel | not provided [RCV002847558] | Chr20:58891727..58891728 [GRCh38] Chr20:57466782..57466783 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.659+11_659+14dup | duplication | not provided [RCV002694843] | Chr20:58909433..58909434 [GRCh38] Chr20:57484488..57484489 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.212+10A>T | single nucleotide variant | not provided [RCV002706276] | Chr20:58895694 [GRCh38] Chr20:57470749 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.654C>A (p.Asn218Lys) | single nucleotide variant | not provided [RCV002927628] | Chr20:58909418 [GRCh38] Chr20:57484473 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.140-1G>C | single nucleotide variant | Inborn genetic diseases [RCV002761749] | Chr20:58895611 [GRCh38] Chr20:57470666 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.312+15C>T | single nucleotide variant | not provided [RCV002636413] | Chr20:58903600 [GRCh38] Chr20:57478655 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+18G>C | single nucleotide variant | not provided [RCV002590922] | Chr20:58891883 [GRCh38] Chr20:57466938 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.917C>A (p.Ser306Ter) | single nucleotide variant | not provided [RCV003021580] | Chr20:58910028 [GRCh38] Chr20:57485083 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.711C>T (p.Cys237=) | single nucleotide variant | GNAS-related disorder [RCV004725399]|not provided [RCV002852264] | Chr20:58909572 [GRCh38] Chr20:57484627 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.971-20T>C | single nucleotide variant | not provided [RCV002918947] | Chr20:58910314 [GRCh38] Chr20:57485369 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.153T>C (p.Ser51=) | single nucleotide variant | not provided [RCV002576196] | Chr20:58895625 [GRCh38] Chr20:57470680 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.585+10del | deletion | not provided [RCV002597230] | Chr20:58909223 [GRCh38] Chr20:57484278 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.970+17C>T | single nucleotide variant | not provided [RCV002593803] | Chr20:58910098 [GRCh38] Chr20:57485153 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.81G>A (p.Glu27=) | single nucleotide variant | GNAS-related disorder [RCV004736227]|not provided [RCV002958604] | Chr20:58891807 [GRCh38] Chr20:57466862 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.551T>C (p.Val184Ala) | single nucleotide variant | GNAS-related disorder [RCV004736197]|not provided [RCV002740846] | Chr20:58909182 [GRCh38] Chr20:57484237 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.706C>A (p.Gln236Lys) | single nucleotide variant | not provided [RCV002851732] | Chr20:58909567 [GRCh38] Chr20:57484622 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.717C>T (p.Asn239=) | single nucleotide variant | GNAS-related disorder [RCV004534132]|not provided [RCV002596687] | Chr20:58909578 [GRCh38] Chr20:57484633 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.524C>A (p.Ala175Asp) | single nucleotide variant | not provided [RCV002917183] | Chr20:58905474 [GRCh38] Chr20:57480529 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.607C>G (p.Gln203Glu) | single nucleotide variant | Inborn genetic diseases [RCV002788271] | Chr20:58853872 [GRCh38] Chr20:57428927 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys) | single nucleotide variant | not provided [RCV003064613] | Chr20:58905452 [GRCh38] Chr20:57480507 [GRCh37] Chr20:20q13.32 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000516.7(GNAS):c.1007G>C (p.Arg336Pro) | single nucleotide variant | GNAS-related disorder [RCV004529175]|not provided [RCV002811775] | Chr20:58910370 [GRCh38] Chr20:57485425 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.317T>C (p.Ile106Thr) | single nucleotide variant | GNAS-associated disease [RCV005227807]|not provided [RCV003064612] | Chr20:58903676 [GRCh38] Chr20:57478731 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.971-15T>C | single nucleotide variant | not provided [RCV003049428] | Chr20:58910319 [GRCh38] Chr20:57485374 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.121C>T (p.His41Tyr) | single nucleotide variant | not provided [RCV003031619] | Chr20:58891847 [GRCh38] Chr20:57466902 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1201G>A (p.Asp401Asn) | single nucleotide variant | GNAS-related disorder [RCV004736289]|Inborn genetic diseases [RCV002717812]|McCune-Albright syndrome [RCV005400550] | Chr20:58854466 [GRCh38] Chr20:57429521 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.432+10A>T | single nucleotide variant | not provided [RCV002675865] | Chr20:58903801 [GRCh38] Chr20:57478856 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.1663T>C (p.Ser555Pro) | single nucleotide variant | Inborn genetic diseases [RCV002807882] | Chr20:58854928 [GRCh38] Chr20:57429983 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.840-3T>G | single nucleotide variant | not provided [RCV003028744] | Chr20:58909948 [GRCh38] Chr20:57485003 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.659+16C>T | single nucleotide variant | not provided [RCV002857330] | Chr20:58909439 [GRCh38] Chr20:57484494 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu) | single nucleotide variant | GNAS-related disorder [RCV004534167]|McCune-Albright syndrome [RCV005025955]|not provided [RCV002672054] | Chr20:58898958 [GRCh38] Chr20:57474013 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.702G>A (p.Trp234Ter) | single nucleotide variant | not provided [RCV003009918] | Chr20:58909563 [GRCh38] Chr20:57484618 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1079A>G (p.Tyr360Cys) | single nucleotide variant | not provided [RCV003028123] | Chr20:58910723 [GRCh38] Chr20:57485778 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.139+18G>A | single nucleotide variant | not provided [RCV002576473] | Chr20:58891883 [GRCh38] Chr20:57466938 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.530+20C>T | single nucleotide variant | not provided [RCV003026865] | Chr20:58905500 [GRCh38] Chr20:57480555 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.719-1G>A | single nucleotide variant | not provided [RCV003028551] | Chr20:58909683 [GRCh38] Chr20:57484738 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.220G>A (p.Glu74Lys) | single nucleotide variant | not provided [RCV002810346] | Chr20:58898948 [GRCh38] Chr20:57474003 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.154G>C (p.Gly52Arg) | single nucleotide variant | not provided [RCV002938937] | Chr20:58895626 [GRCh38] Chr20:57470681 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.670G>T (p.Val224Leu) | single nucleotide variant | Inborn genetic diseases [RCV002809924] | Chr20:58909531 [GRCh38] Chr20:57484586 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.312+7G>A | single nucleotide variant | GNAS-related disorder [RCV004534133]|not provided [RCV002600259] | Chr20:58903592 [GRCh38] Chr20:57478647 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1826G>A (p.Arg609His) | single nucleotide variant | Inborn genetic diseases [RCV002702673] | Chr20:58855091 [GRCh38] Chr20:57430146 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.697A>G (p.Lys233Glu) | single nucleotide variant | not provided [RCV002627607] | Chr20:58909558 [GRCh38] Chr20:57484613 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.78C>T (p.Ile26=) | single nucleotide variant | GNAS-related disorder [RCV004545347]|not provided [RCV002601017] | Chr20:58891804 [GRCh38] Chr20:57466859 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.848G>A (p.Arg283His) | single nucleotide variant | not provided [RCV002807192] | Chr20:58909959 [GRCh38] Chr20:57485014 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.570T>C (p.Gly190=) | single nucleotide variant | Inborn genetic diseases [RCV002965163] | Chr20:58853835 [GRCh38] Chr20:57428890 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1473G>A (p.Ala491=) | single nucleotide variant | Inborn genetic diseases [RCV002679504] | Chr20:58854738 [GRCh38] Chr20:57429793 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1700A>G (p.Glu567Gly) | single nucleotide variant | GNAS-related disorder [RCV004538862]|Inborn genetic diseases [RCV002678571] | Chr20:58854965 [GRCh38] Chr20:57430020 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1161C>T (p.His387=) | single nucleotide variant | GNAS-related disorder [RCV004736188]|not provided [RCV002654283] | Chr20:58910805 [GRCh38] Chr20:57485860 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+4A>C | single nucleotide variant | GNAS-related disorder [RCV004736257]|not provided [RCV003068784] | Chr20:58891869 [GRCh38] Chr20:57466924 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.124C>T (p.Arg42Cys) | single nucleotide variant | GNAS-related disorder [RCV004536549]|not provided [RCV003050558] | Chr20:58891850 [GRCh38] Chr20:57466905 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.637C>T (p.Gln213Ter) | single nucleotide variant | not provided [RCV003050560] | Chr20:58909401 [GRCh38] Chr20:57484456 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1156A>G (p.Met386Val) | single nucleotide variant | not provided [RCV002605451] | Chr20:58910800 [GRCh38] Chr20:57485855 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.212+6T>G | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV003153122] | Chr20:58895690 [GRCh38] Chr20:57470745 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1039-18C>G | single nucleotide variant | not provided [RCV002636015] | Chr20:58910665 [GRCh38] Chr20:57485720 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.93G>A (p.Gln31=) | single nucleotide variant | GNAS-related disorder [RCV004736187]|not provided [RCV002654122] | Chr20:58891819 [GRCh38] Chr20:57466874 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.877_878dup (p.Gln294fs) | duplication | not provided [RCV003050177] | Chr20:58909987..58909988 [GRCh38] Chr20:57485042..57485043 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.433-16T>C | single nucleotide variant | not provided [RCV002680804] | Chr20:58905367 [GRCh38] Chr20:57480422 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.17G>A (p.Cys6Tyr) | single nucleotide variant | not provided [RCV003129539] | Chr20:58853282 [GRCh38] Chr20:57428337 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.839+18C>T | single nucleotide variant | not provided [RCV002604840] | Chr20:58909822 [GRCh38] Chr20:57484877 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.127C>T (p.Leu43=) | single nucleotide variant | not provided [RCV002635293] | Chr20:58891853 [GRCh38] Chr20:57466908 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004786809]|not provided [RCV003050559] | Chr20:58903581 [GRCh38] Chr20:57478636 [GRCh37] Chr20:20q13.32 |
pathogenic|uncertain significance |
NM_080425.4(GNAS):c.1463C>G (p.Ala488Gly) | single nucleotide variant | not provided [RCV003129403] | Chr20:58854728 [GRCh38] Chr20:57429783 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.416T>C (p.Met139Thr) | single nucleotide variant | not provided [RCV003135407] | Chr20:58853681 [GRCh38] Chr20:57428736 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.286A>G (p.Lys96Glu) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004780732] | Chr20:58903559 [GRCh38] Chr20:57478614 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.424G>T (p.Gly142Ter) | single nucleotide variant | not provided [RCV004786209] | Chr20:58853689 [GRCh38] Chr20:57428744 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.338T>A (p.Leu113Gln) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004788513] | Chr20:58903697 [GRCh38] Chr20:57478752 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_016592.5(GNAS):c.175C>T (p.Gln59Ter) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004794727]|not specified [RCV005241039] | Chr20:58840281 [GRCh38] Chr20:57415336 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_080425.4(GNAS):c.849C>A (p.Ser283Arg) | single nucleotide variant | not provided [RCV004776747] | Chr20:58854114 [GRCh38] Chr20:57429169 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1154G>A (p.Arg385His) | single nucleotide variant | not provided [RCV003229204] | Chr20:58910798 [GRCh38] Chr20:57485853 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_016592.5(GNAS):c.4G>A (p.Asp2Asn) | single nucleotide variant | not provided [RCV003223097] | Chr20:58840110 [GRCh38] Chr20:57415165 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.298T>C (p.Cys100Arg) | single nucleotide variant | not provided [RCV003156589] | Chr20:58840404 [GRCh38] Chr20:57415459 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.780_786del (p.Ser261fs) | deletion | not provided [RCV003159357] | Chr20:58854045..58854051 [GRCh38] Chr20:57429100..57429106 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.437T>C (p.Phe146Ser) | single nucleotide variant | not provided [RCV003142562] | Chr20:58905387 [GRCh38] Chr20:57480442 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly) | single nucleotide variant | GNAS-related disorder [RCV004538926]|Pseudohypoparathyroidism type 1C [RCV003228649] | Chr20:58840113 [GRCh38] Chr20:57415168 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_016592.5(GNAS):c.616G>C (p.Glu206Gln) | single nucleotide variant | not provided [RCV003225304] | Chr20:58840722 [GRCh38] Chr20:57415777 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1165C>T (p.Arg389Cys) | single nucleotide variant | not provided [RCV003322995] | Chr20:58910809 [GRCh38] Chr20:57485864 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.605T>C (p.Val202Ala) | single nucleotide variant | not provided [RCV003318925] | Chr20:58909369 [GRCh38] Chr20:57484424 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg) | single nucleotide variant | GNAS-related disorder [RCV004723265]|Pseudohypoparathyroidism type I A [RCV003322695] | Chr20:58909989 [GRCh38] Chr20:57485044 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys) | single nucleotide variant | not provided [RCV003325148] | Chr20:58909200 [GRCh38] Chr20:57484255 [GRCh37] Chr20:20q13.32 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000516.7(GNAS):c.258-6C>G | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV003320433] | Chr20:58903525 [GRCh38] Chr20:57478580 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1058C>T (p.Pro353Leu) | single nucleotide variant | not provided [RCV003322217] | Chr20:58854323 [GRCh38] Chr20:57429378 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GNAS, 4.7-KB DEL | deletion | Pseudohypoparathyroidism type 1B [RCV000001271] | Chr20:20q13.2 | pathogenic |
NM_080425.4(GNAS):c.200C>T (p.Ala67Val) | single nucleotide variant | not provided [RCV003325073] | Chr20:58853465 [GRCh38] Chr20:57428520 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1366_1367insAGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCG (p.Ser455_Gly456insGluAlaAlaProAspAlaProAlaAspProAspSer) | microsatellite | GNAS-related disorder [RCV004529627]|not specified [RCV003331855] | Chr20:58854596..58854597 [GRCh38] Chr20:57429651..57429652 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu) | single nucleotide variant | Pseudohypoparathyroidism type 1C [RCV003335991] | Chr20:58855264 [GRCh38] Chr20:57430319 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 | copy number gain | See cases [RCV003329549] | Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33 |
uncertain significance |
NM_000516.7(GNAS):c.658del (p.His220fs) | deletion | Pseudohypoparathyroidism type I A [RCV003338035] | Chr20:58909421 [GRCh38] Chr20:57484476 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.97G>A (p.Asp33Asn) | single nucleotide variant | not provided [RCV003332510] | Chr20:58891823 [GRCh38] Chr20:57466878 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1530C>T (p.Val510=) | single nucleotide variant | GNAS-related disorder [RCV004528617] | Chr20:58854795 [GRCh38] Chr20:57429850 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.634GAG[1] (p.Glu213del) | microsatellite | GNAS-related disorder [RCV004531680] | Chr20:58840738..58840740 [GRCh38] Chr20:57415793..57415795 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-5457AGA[2] | microsatellite | not provided [RCV003431381] | Chr20:58890155..58890157 [GRCh38] Chr20:57465210..57465212 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.925T>C (p.Phe309Leu) | single nucleotide variant | GNAS-related disorder [RCV004536657] | Chr20:58854190 [GRCh38] Chr20:57429245 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-5679A>C | single nucleotide variant | not provided [RCV003431379] | Chr20:58889933 [GRCh38] Chr20:57464988 [GRCh37] Chr20:20q13.32 |
benign |
NM_016592.5(GNAS):c.720C>G (p.Ile240Met) | single nucleotide variant | GNAS-related disorder [RCV004527885] | Chr20:58840826 [GRCh38] Chr20:57415881 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1453G>A (p.Ala485Thr) | single nucleotide variant | GNAS-related disorder [RCV004527898] | Chr20:58854718 [GRCh38] Chr20:57429773 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATTC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspSerAsp) | insertion | GNAS-related disorder [RCV004531732] | Chr20:58854658..58854659 [GRCh38] Chr20:57429713..57429714 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.745G>C (p.Val249Leu) | single nucleotide variant | GNAS-related disorder [RCV004531577] | Chr20:58854010 [GRCh38] Chr20:57429065 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1719C>T (p.Asp573=) | single nucleotide variant | GNAS-related disorder [RCV004538962] | Chr20:58854984 [GRCh38] Chr20:57430039 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1420C>T (p.Pro474Ser) | single nucleotide variant | GNAS-related disorder [RCV004536751] | Chr20:58854685 [GRCh38] Chr20:57429740 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.265G>A (p.Gly89Arg) | single nucleotide variant | GNAS-related disorder [RCV004531731] | Chr20:58853530 [GRCh38] Chr20:57428585 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.586G>A (p.Asp196Asn) | single nucleotide variant | not provided [RCV003332808] | Chr20:58909350 [GRCh38] Chr20:57484405 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.397G>C (p.Ala133Pro) | single nucleotide variant | GNAS-related disorder [RCV004527988] | Chr20:58853662 [GRCh38] Chr20:57428717 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1352C>G (p.Ala451Gly) | single nucleotide variant | GNAS-related disorder [RCV004528598] | Chr20:58854617 [GRCh38] Chr20:57429672 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1516C>T (p.Arg506Trp) | single nucleotide variant | GNAS-related disorder [RCV004534319] | Chr20:58854781 [GRCh38] Chr20:57429836 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV003333319] | Chr20:58909958 [GRCh38] Chr20:57485013 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-5306C>T | single nucleotide variant | not provided [RCV003457095] | Chr20:58890306 [GRCh38] Chr20:57465361 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.347_348dup (p.Val117fs) | duplication | not provided [RCV003457335] | Chr20:58903701..58903702 [GRCh38] Chr20:57478756..57478757 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.445_446del (p.His149fs) | deletion | McCune-Albright syndrome [RCV005038830]|not provided [RCV004778758] | Chr20:58905395..58905396 [GRCh38] Chr20:57480450..57480451 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.888_890del (p.Leu297del) | deletion | not provided [RCV003570453] | Chr20:58909997..58909999 [GRCh38] Chr20:57485052..57485054 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.816G>A (p.Ala272=) | single nucleotide variant | GNAS-related disorder [RCV004529364] | Chr20:58854081 [GRCh38] Chr20:57429136 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.598G>A (p.Glu200Lys) | single nucleotide variant | GNAS-related disorder [RCV004534206] | Chr20:58853863 [GRCh38] Chr20:57428918 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_080425.4(GNAS):c.1448G>A (p.Arg483Gln) | single nucleotide variant | GNAS-related disorder [RCV004531665] | Chr20:58854713 [GRCh38] Chr20:57429768 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1323CGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCC[1] (p.443SGAAPDAPADPD[1]) | microsatellite | GNAS-related disorder [RCV004531707] | Chr20:58854573..58854608 [GRCh38] Chr20:57429628..57429663 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1681_1682delinsTT (p.Arg561Phe) | indel | GNAS-related disorder [RCV004536720]|Pseudopseudohypoparathyroidism [RCV004560166] | Chr20:58854946..58854947 [GRCh38] Chr20:57430001..57430002 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-5316_2069-5305del | deletion | not provided [RCV003431382] | Chr20:58890286..58890297 [GRCh38] Chr20:57465341..57465352 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.*42+10000C>T | single nucleotide variant | not provided [RCV003440457] | Chr20:58850886 [GRCh38] Chr20:57425941 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.2069-5304_2069-5281del | deletion | not provided [RCV003440462] | Chr20:58890288..58890311 [GRCh38] Chr20:57465343..57465366 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_080425.4(GNAS):c.338G>C (p.Gly113Ala) | single nucleotide variant | not provided [RCV003443665] | Chr20:58853603 [GRCh38] Chr20:57428658 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.380G>C (p.Arg127Thr) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV003458970] | Chr20:58903739 [GRCh38] Chr20:57478794 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.531C>G (p.Arg177=) | single nucleotide variant | not provided [RCV003457334] | Chr20:58840637 [GRCh38] Chr20:57415692 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.320T>G (p.Val107Gly) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV003455836] | Chr20:58903679 [GRCh38] Chr20:57478734 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.923C>T (p.Pro308Leu) | single nucleotide variant | not specified [RCV003479872] | Chr20:58854188 [GRCh38] Chr20:57429243 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.127C>T (p.Arg43Cys) | single nucleotide variant | GNAS-related disorder [RCV004529666] | Chr20:58840233 [GRCh38] Chr20:57415288 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.82A>T (p.Lys28Ter) | single nucleotide variant | GNAS-related disorder [RCV004534334] | Chr20:58891808 [GRCh38] Chr20:57466863 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_080425.4(GNAS):c.1280C>A (p.Ala427Asp) | single nucleotide variant | GNAS-related disorder [RCV004528728] | Chr20:58854545 [GRCh38] Chr20:57429600 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_080425.4(GNAS):c.1787G>A (p.Arg596Gln) | single nucleotide variant | GNAS-related disorder [RCV004534198] | Chr20:58855052 [GRCh38] Chr20:57430107 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.326C>A (p.Pro109His) | single nucleotide variant | GNAS-related disorder [RCV004538967] | Chr20:58853591 [GRCh38] Chr20:57428646 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.398C>T (p.Pro133Leu) | single nucleotide variant | GNAS-related disorder [RCV004534356] | Chr20:58840504 [GRCh38] Chr20:57415559 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.531-1162A>C | single nucleotide variant | not provided [RCV003431383] | Chr20:58908000 [GRCh38] Chr20:57483055 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_080425.4(GNAS):c.234T>C (p.Phe78=) | single nucleotide variant | GNAS-related disorder [RCV004528595] | Chr20:58853499 [GRCh38] Chr20:57428554 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.44A>G (p.His15Arg) | single nucleotide variant | GNAS-related disorder [RCV004536638] | Chr20:58840150 [GRCh38] Chr20:57415205 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.713G>T (p.Gly238Val) | single nucleotide variant | GNAS-related disorder [RCV004528549] | Chr20:58840819 [GRCh38] Chr20:57415874 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.556C>G (p.Pro186Ala) | single nucleotide variant | GNAS-related disorder [RCV004528553] | Chr20:58853821 [GRCh38] Chr20:57428876 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1323CGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCC[3] (p.Asp466_Ala467insSerGlyAlaAlaProAspAlaProAlaAspProAsp) | microsatellite | GNAS-related disorder [RCV004529334] | Chr20:58854572..58854573 [GRCh38] Chr20:57429627..57429628 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1302C>A (p.Ala434=) | single nucleotide variant | GNAS-related disorder [RCV004534219] | Chr20:58854567 [GRCh38] Chr20:57429622 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.72A>G (p.Ile24Met) | single nucleotide variant | GNAS-related disorder [RCV004529269] | Chr20:58840178 [GRCh38] Chr20:57415233 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.455G>A (p.Gly152Glu) | single nucleotide variant | GNAS-related disorder [RCV004528618] | Chr20:58853720 [GRCh38] Chr20:57428775 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.355G>C (p.Glu119Gln) | single nucleotide variant | GNAS-related disorder [RCV004531695] | Chr20:58853620 [GRCh38] Chr20:57428675 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.412G>A (p.Glu138Lys) | single nucleotide variant | GNAS-related disorder [RCV004531670] | Chr20:58840518 [GRCh38] Chr20:57415573 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.677T>C (p.Phe226Ser) | single nucleotide variant | GNAS-related disorder [RCV004531684] | Chr20:58853942 [GRCh38] Chr20:57428997 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1682G>A (p.Arg561His) | single nucleotide variant | GNAS-related disorder [RCV004531691] | Chr20:58854947 [GRCh38] Chr20:57430002 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.184G>A (p.Glu62Lys) | single nucleotide variant | GNAS-related disorder [RCV004534309] | Chr20:58853449 [GRCh38] Chr20:57428504 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.888G>T (p.Thr296=) | single nucleotide variant | GNAS-related disorder [RCV004538975] | Chr20:58854153 [GRCh38] Chr20:57429208 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.563G>A (p.Gly188Asp) | single nucleotide variant | GNAS-related disorder [RCV004534347] | Chr20:58853828 [GRCh38] Chr20:57428883 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.111T>C (p.Ala37=) | single nucleotide variant | not provided [RCV003440458] | Chr20:58853376 [GRCh38] Chr20:57428431 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.2069-5657_2069-5646del | deletion | not provided [RCV003440459] | Chr20:58889946..58889957 [GRCh38] Chr20:57465001..57465012 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_080425.4(GNAS):c.2069-5515A>C | single nucleotide variant | not provided [RCV003431380] | Chr20:58890097 [GRCh38] Chr20:57465152 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.334G>C (p.Glu112Gln) | single nucleotide variant | not provided [RCV003440454] | Chr20:58840440 [GRCh38] Chr20:57415495 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.*42+9924G>A | single nucleotide variant | not provided [RCV003440456] | Chr20:58850810 [GRCh38] Chr20:57425865 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.2069-5435G>A | single nucleotide variant | not provided [RCV003440460] | Chr20:58890177 [GRCh38] Chr20:57465232 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.-23_-14del | deletion | not provided [RCV003440464] | Chr20:58891699..58891708 [GRCh38] Chr20:57466754..57466763 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_016592.5(GNAS):c.364G>A (p.Glu122Lys) | single nucleotide variant | not provided [RCV003440455] | Chr20:58840470 [GRCh38] Chr20:57415525 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.2069-5337C>A | single nucleotide variant | not provided [RCV003440461] | Chr20:58890275 [GRCh38] Chr20:57465330 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_016592.5(GNAS):c.354_383del (p.Ile119_Glu128del) | deletion | not provided [RCV003443705] | Chr20:58840456..58840485 [GRCh38] Chr20:57415511..57415540 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.967G>C (p.Asp323His) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV003444501] | Chr20:58910078 [GRCh38] Chr20:57485133 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1018_1020dup (p.Phe340_Ile341insPhe) | duplication | GNAS-related disorder [RCV004527838] | Chr20:58910379..58910380 [GRCh38] Chr20:57485434..57485435 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_000516.7(GNAS):c.330G>C (p.Met110Ile) | single nucleotide variant | GNAS-related disorder [RCV004536731] | Chr20:58903689 [GRCh38] Chr20:57478744 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.707A>C (p.Gln236Pro) | single nucleotide variant | GNAS-related disorder [RCV004528605] | Chr20:58909568 [GRCh38] Chr20:57484623 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.506A>G (p.Tyr169Cys) | single nucleotide variant | not provided [RCV004590691] | Chr20:58905456 [GRCh38] Chr20:57480511 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.819C>G (p.Phe273Leu) | single nucleotide variant | Disorders of GNAS Inactivation [RCV003389351] | Chr20:58909784 [GRCh38] Chr20:57484839 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.1860C>T (p.Phe620=) | single nucleotide variant | GNAS-related disorder [RCV004534369] | Chr20:58855125 [GRCh38] Chr20:57430180 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1532G>C (p.Arg511Pro) | single nucleotide variant | GNAS-related disorder [RCV004527877] | Chr20:58854797 [GRCh38] Chr20:57429852 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1364C>T (p.Ser455Phe) | single nucleotide variant | GNAS-related disorder [RCV004531713] | Chr20:58854629 [GRCh38] Chr20:57429684 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.611C>T (p.Pro204Leu) | single nucleotide variant | GNAS-related disorder [RCV004531561] | Chr20:58840717 [GRCh38] Chr20:57415772 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.286C>G (p.Pro96Ala) | single nucleotide variant | GNAS-related disorder [RCV004534337] | Chr20:58853551 [GRCh38] Chr20:57428606 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1307_1342del (p.Ala436_Pro447del) | deletion | GNAS-related disorder [RCV004529735] | Chr20:58854565..58854600 [GRCh38] Chr20:57429620..57429655 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.701C>T (p.Pro234Leu) | single nucleotide variant | GNAS-related disorder [RCV004531685] | Chr20:58840807 [GRCh38] Chr20:57415862 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.631A>G (p.Lys211Glu) | single nucleotide variant | GNAS-related disorder [RCV004531712] | Chr20:58840737 [GRCh38] Chr20:57415792 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.531-1143G>A | single nucleotide variant | not provided [RCV003440465] | Chr20:58908019 [GRCh38] Chr20:57483074 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.529T>A (p.Tyr177Asn) | single nucleotide variant | GNAS-related disorder [RCV004531721]|McCune-Albright syndrome [RCV005036788] | Chr20:58905479 [GRCh38] Chr20:57480534 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.568T>G (p.Tyr190Asp) | single nucleotide variant | not provided [RCV003441405] | Chr20:58909199 [GRCh38] Chr20:57484254 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.703GAC[1] (p.Asp236del) | microsatellite | GNAS-related disorder [RCV004531697] | Chr20:58853968..58853970 [GRCh38] Chr20:57429023..57429025 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-4915C>T | single nucleotide variant | not provided [RCV003440463] | Chr20:58890697 [GRCh38] Chr20:57465752 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.666dup (p.Asp223Ter) | duplication | GNAS-related disorder [RCV004528631] | Chr20:58909524..58909525 [GRCh38] Chr20:57484579..57484580 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.543C>T (p.Val181=) | single nucleotide variant | not specified [RCV003489711] | Chr20:58853808 [GRCh38] Chr20:57428863 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1038+3G>A | single nucleotide variant | not provided [RCV003575259] | Chr20:58910404 [GRCh38] Chr20:57485459 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1144A>T (p.Ile382Phe) | single nucleotide variant | not provided [RCV003578954] | Chr20:58910788 [GRCh38] Chr20:57485843 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.989A>G (p.Glu330Gly) | single nucleotide variant | not provided [RCV003576526] | Chr20:58910352 [GRCh38] Chr20:57485407 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.312+7G>T | single nucleotide variant | not provided [RCV003715325] | Chr20:58903592 [GRCh38] Chr20:57478647 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.432+11C>T | single nucleotide variant | not provided [RCV003662267] | Chr20:58903802 [GRCh38] Chr20:57478857 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.651C>T (p.Val217=) | single nucleotide variant | not provided [RCV003740195] | Chr20:58909415 [GRCh38] Chr20:57484470 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.531-105_599del | deletion | not provided [RCV003689459] | Chr20:58909054..58909360 [GRCh38] Chr20:57484109..57484415 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.46G>A (p.Glu16Lys) | single nucleotide variant | not provided [RCV003879558] | Chr20:58891772 [GRCh38] Chr20:57466827 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.585+12C>T | single nucleotide variant | McCune-Albright syndrome [RCV005038539]|not provided [RCV003825320] | Chr20:58909228 [GRCh38] Chr20:57484283 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_000516.7(GNAS):c.415G>A (p.Asp139Asn) | single nucleotide variant | not provided [RCV003662943] | Chr20:58903774 [GRCh38] Chr20:57478829 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu) | single nucleotide variant | Duane retraction syndrome [RCV003883442]|GNAS-related disorder [RCV004736429] | Chr20:58840819 [GRCh38] Chr20:57415874 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1717G>C (p.Asp573His) | single nucleotide variant | Duane retraction syndrome [RCV003883443]|GNAS-related disorder [RCV004736430] | Chr20:58854982 [GRCh38] Chr20:57430037 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.695G>A (p.Arg232His) | single nucleotide variant | McCune-Albright syndrome [RCV005030069]|not provided [RCV003543978] | Chr20:58909556 [GRCh38] Chr20:57484611 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.234G>A (p.Gln78=) | single nucleotide variant | not provided [RCV003571938] | Chr20:58898962 [GRCh38] Chr20:57474017 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.585+11C>A | single nucleotide variant | not provided [RCV003825446] | Chr20:58909227 [GRCh38] Chr20:57484282 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1038+1G>C | single nucleotide variant | not provided [RCV003693032] | Chr20:58910402 [GRCh38] Chr20:57485457 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.139+8_139+14dup | duplication | not provided [RCV003688251] | Chr20:58891870..58891871 [GRCh38] Chr20:57466925..57466926 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.408del (p.Asn136fs) | deletion | not provided [RCV003547221] | Chr20:58903767 [GRCh38] Chr20:57478822 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.574C>A (p.Pro192Thr) | single nucleotide variant | not provided [RCV003689295] | Chr20:58909205 [GRCh38] Chr20:57484260 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln) | single nucleotide variant | Duane retraction syndrome [RCV003883441]|GNAS-related disorder [RCV004736428] | Chr20:58840410 [GRCh38] Chr20:57415465 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.432+2T>C | single nucleotide variant | not provided [RCV003572029] | Chr20:58903793 [GRCh38] Chr20:57478848 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.-1_2del (p.Met1del) | deletion | not provided [RCV003689379] | Chr20:58891726..58891728 [GRCh38] Chr20:57466781..57466783 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.150_154del (p.Glu50_Ser51insTer) | deletion | not provided [RCV003692139] | Chr20:58895622..58895626 [GRCh38] Chr20:57470677..57470681 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.915A>G (p.Lys305=) | single nucleotide variant | not provided [RCV003661773] | Chr20:58910026 [GRCh38] Chr20:57485081 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.718+18T>C | single nucleotide variant | not provided [RCV003880036] | Chr20:58909597 [GRCh38] Chr20:57484652 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1110_1111del (p.Asn371fs) | microsatellite | GNAS-related disorder [RCV004736373]|not provided [RCV003692597] | Chr20:58910752..58910753 [GRCh38] Chr20:57485807..57485808 [GRCh37] Chr20:20q13.32 |
pathogenic|likely pathogenic |
NM_000516.7(GNAS):c.1011C>T (p.Ala337=) | single nucleotide variant | not provided [RCV003827903] | Chr20:58910374 [GRCh38] Chr20:57485429 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.84G>A (p.Lys28=) | single nucleotide variant | not provided [RCV003690239] | Chr20:58891810 [GRCh38] Chr20:57466865 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.927C>T (p.Phe309=) | single nucleotide variant | GNAS-related disorder [RCV004539043]|not provided [RCV003572053] | Chr20:58854192 [GRCh38] Chr20:57429247 [GRCh37] Chr20:20q13.32 |
benign|likely benign |
NM_000516.7(GNAS):c.970+1G>A | single nucleotide variant | not provided [RCV003580842] | Chr20:58910082 [GRCh38] Chr20:57485137 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.312+12C>T | single nucleotide variant | not provided [RCV005062237] | Chr20:58903597 [GRCh38] Chr20:57478652 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.476T>A (p.Val159Glu) | single nucleotide variant | not provided [RCV003701335] | Chr20:58905426 [GRCh38] Chr20:57480481 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.432+14C>T | single nucleotide variant | not provided [RCV003701116] | Chr20:58903805 [GRCh38] Chr20:57478860 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1147del (p.Ile383fs) | deletion | not provided [RCV003550025] | Chr20:58910791 [GRCh38] Chr20:57485846 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.507C>T (p.Tyr169=) | single nucleotide variant | not provided [RCV003849983] | Chr20:58905457 [GRCh38] Chr20:57480512 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.718+8G>A | single nucleotide variant | GNAS-related disorder [RCV004736411]|not provided [RCV003812107] | Chr20:58909587 [GRCh38] Chr20:57484642 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.257+4G>A | single nucleotide variant | not provided [RCV003833153] | Chr20:58898989 [GRCh38] Chr20:57474044 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1120C>T (p.Arg374Cys) | single nucleotide variant | not provided [RCV003549730] | Chr20:58910764 [GRCh38] Chr20:57485819 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.719-6G>C | single nucleotide variant | not provided [RCV003725094] | Chr20:58909678 [GRCh38] Chr20:57484733 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.661dup (p.Met221fs) | duplication | not provided [RCV003561669] | Chr20:58909521..58909522 [GRCh38] Chr20:57484576..57484577 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.93G>C (p.Gln31His) | single nucleotide variant | not provided [RCV003699155] | Chr20:58891819 [GRCh38] Chr20:57466874 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.531-19G>A | single nucleotide variant | not provided [RCV003816216] | Chr20:58909143 [GRCh38] Chr20:57484198 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.12C>T (p.Leu4=) | single nucleotide variant | not provided [RCV003833880] | Chr20:58891738 [GRCh38] Chr20:57466793 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.258-19C>G | single nucleotide variant | not provided [RCV003665725] | Chr20:58903512 [GRCh38] Chr20:57478567 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.971-4A>G | single nucleotide variant | not provided [RCV003816528] | Chr20:58910330 [GRCh38] Chr20:57485385 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.312+5G>C | single nucleotide variant | not provided [RCV003560147] | Chr20:58903590 [GRCh38] Chr20:57478645 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.659+22dup | duplication | not provided [RCV003723359] | Chr20:58909440..58909441 [GRCh38] Chr20:57484495..57484496 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.718+13_718+24del | deletion | not provided [RCV003717568] | Chr20:58909587..58909598 [GRCh38] Chr20:57484642..57484653 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+23_139+26del | deletion | not provided [RCV003723753] | Chr20:58891885..58891888 [GRCh38] Chr20:57466940..57466943 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.257+16del | deletion | not provided [RCV003667221] | Chr20:58898998 [GRCh38] Chr20:57474053 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.660-8C>T | single nucleotide variant | not provided [RCV003725579] | Chr20:58909513 [GRCh38] Chr20:57484568 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.864C>T (p.Ile288=) | single nucleotide variant | not provided [RCV003698206] | Chr20:58909975 [GRCh38] Chr20:57485030 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.586-6T>C | single nucleotide variant | not provided [RCV003832489] | Chr20:58909344 [GRCh38] Chr20:57484399 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.432+16A>C | single nucleotide variant | not provided [RCV003837918] | Chr20:58903807 [GRCh38] Chr20:57478862 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.332G>A (p.Ser111Asn) | single nucleotide variant | not provided [RCV003701775] | Chr20:58903691 [GRCh38] Chr20:57478746 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.732C>T (p.Ile244=) | single nucleotide variant | not provided [RCV003839103] | Chr20:58909697 [GRCh38] Chr20:57484752 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.167T>C (p.Ile56Thr) | single nucleotide variant | not provided [RCV003560146] | Chr20:58895639 [GRCh38] Chr20:57470694 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.952T>C (p.Tyr318His) | single nucleotide variant | not provided [RCV003560149] | Chr20:58910063 [GRCh38] Chr20:57485118 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.585+13C>T | single nucleotide variant | not provided [RCV003836616] | Chr20:58909229 [GRCh38] Chr20:57484284 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.123C>T (p.His41=) | single nucleotide variant | not provided [RCV003734443] | Chr20:58891849 [GRCh38] Chr20:57466904 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.889C>A (p.Leu297Ile) | single nucleotide variant | not provided [RCV003678667] | Chr20:58910000 [GRCh38] Chr20:57485055 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.508C>T (p.Gln170Ter) | single nucleotide variant | not provided [RCV003567921] | Chr20:58905458 [GRCh38] Chr20:57480513 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.313-2A>C | single nucleotide variant | not provided [RCV003681143] | Chr20:58903670 [GRCh38] Chr20:57478725 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.342G>A (p.Val114=) | single nucleotide variant | not provided [RCV003728529] | Chr20:58903701 [GRCh38] Chr20:57478756 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1032G>A (p.Glu344=) | single nucleotide variant | not provided [RCV003675042] | Chr20:58910395 [GRCh38] Chr20:57485450 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.140-4C>T | single nucleotide variant | not provided [RCV003674898] | Chr20:58895608 [GRCh38] Chr20:57470663 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.441del (p.Phe146_Tyr147insTer) | deletion | not provided [RCV003550699] | Chr20:58905391 [GRCh38] Chr20:57480446 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.133C>T (p.Leu45=) | single nucleotide variant | GNAS-related disorder [RCV004542307]|not provided [RCV003858602] | Chr20:58891859 [GRCh38] Chr20:57466914 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.393_394delinsTT (p.Ile131_Leu132=) | indel | not provided [RCV003733015] | Chr20:58903752..58903753 [GRCh38] Chr20:57478807..57478808 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.313-3_313-2del | deletion | not provided [RCV003683464] | Chr20:58903669..58903670 [GRCh38] Chr20:57478724..57478725 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.531-13_531-11del | deletion | not provided [RCV003861821] | Chr20:58909147..58909149 [GRCh38] Chr20:57484202..57484204 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.432+3A>G | single nucleotide variant | not provided [RCV003556740] | Chr20:58903794 [GRCh38] Chr20:57478849 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.27C>T (p.Thr9=) | single nucleotide variant | not provided [RCV003682609] | Chr20:58891753 [GRCh38] Chr20:57466808 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.660-14C>G | single nucleotide variant | not provided [RCV003707871] | Chr20:58909507 [GRCh38] Chr20:57484562 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1017C>T (p.Tyr339=) | single nucleotide variant | GNAS-related disorder [RCV004539079]|not provided [RCV003707543] | Chr20:58910380 [GRCh38] Chr20:57485435 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.231G>A (p.Pro77=) | single nucleotide variant | not provided [RCV003819349] | Chr20:58898959 [GRCh38] Chr20:57474014 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.257+970_257+972del | microsatellite | GNAS-related disorder [RCV004532248]|Pseudohypoparathyroidism type 1B [RCV003989869] | Chr20:58899952..58899954 [GRCh38] Chr20:57475007..57475009 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.719-6G>A | single nucleotide variant | not provided [RCV003542682] | Chr20:58909678 [GRCh38] Chr20:57484733 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.871C>T (p.Leu291Phe) | single nucleotide variant | not provided [RCV003868152] | Chr20:58909982 [GRCh38] Chr20:57485037 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.258-20T>G | single nucleotide variant | not provided [RCV003683308] | Chr20:58903511 [GRCh38] Chr20:57478566 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.996A>G (p.Pro332=) | single nucleotide variant | not provided [RCV003677958] | Chr20:58910359 [GRCh38] Chr20:57485414 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+14G>C | single nucleotide variant | not provided [RCV003867189] | Chr20:58891879 [GRCh38] Chr20:57466934 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.731T>A (p.Ile244Asn) | single nucleotide variant | not provided [RCV003564527] | Chr20:58909696 [GRCh38] Chr20:57484751 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.489C>T (p.Tyr163=) | single nucleotide variant | GNAS-related disorder [RCV004736357]|not provided [RCV003563275] | Chr20:58905439 [GRCh38] Chr20:57480494 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.66C>T (p.Ala22=) | single nucleotide variant | not provided [RCV003843212] | Chr20:58891792 [GRCh38] Chr20:57466847 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.15G>A (p.Gly5=) | single nucleotide variant | GNAS-related disorder [RCV004539083]|not provided [RCV003719978] | Chr20:58891741 [GRCh38] Chr20:57466796 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.550G>A (p.Val184Met) | single nucleotide variant | GNAS-related disorder [RCV004736422]|not provided [RCV003865528] | Chr20:58909181 [GRCh38] Chr20:57484236 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1039-20C>A | single nucleotide variant | not provided [RCV003711912] | Chr20:58910663 [GRCh38] Chr20:57485718 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.878del (p.Lys293fs) | deletion | not provided [RCV003550479] | Chr20:58909988 [GRCh38] Chr20:57485043 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.217G>T (p.Gly73Cys) | single nucleotide variant | not provided [RCV003685588] | Chr20:58898945 [GRCh38] Chr20:57474000 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.840-20C>T | single nucleotide variant | not provided [RCV003852930] | Chr20:58909931 [GRCh38] Chr20:57484986 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.660-10dup | duplication | not provided [RCV003567160] | Chr20:58909510..58909511 [GRCh38] Chr20:57484565..57484566 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.839+20A>G | single nucleotide variant | not provided [RCV003710616] | Chr20:58909824 [GRCh38] Chr20:57484879 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+5GGGC[3] | microsatellite | not provided [RCV003705359] | Chr20:58891869..58891870 [GRCh38] Chr20:57466924..57466925 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.576G>A (p.Pro192=) | single nucleotide variant | GNAS-related disorder [RCV004736423]|not provided [RCV003861546] | Chr20:58909207 [GRCh38] Chr20:57484262 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+20_139+25dup | duplication | not provided [RCV003705349] | Chr20:58891881..58891882 [GRCh38] Chr20:57466936..57466937 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg) | single nucleotide variant | McCune-Albright syndrome [RCV005030172]|not provided [RCV003706558] | Chr20:58903551 [GRCh38] Chr20:57478606 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.794_795dup (p.Leu266fs) | duplication | not provided [RCV003566460] | Chr20:58909757..58909758 [GRCh38] Chr20:57484812..57484813 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.140-16T>G | single nucleotide variant | not provided [RCV003866540] | Chr20:58895596 [GRCh38] Chr20:57470651 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.432+17C>A | single nucleotide variant | not provided [RCV003863319] | Chr20:58903808 [GRCh38] Chr20:57478863 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1398T>C (p.Asp466=) | single nucleotide variant | GNAS-related disorder [RCV004542532] | Chr20:58854663 [GRCh38] Chr20:57429718 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1594A>G (p.Ser532Gly) | single nucleotide variant | not provided [RCV003887384] | Chr20:58854859 [GRCh38] Chr20:57429914 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.*10C>G | single nucleotide variant | GNAS-related disorder [RCV004532003] | Chr20:58910839 [GRCh38] Chr20:57485894 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.195C>T (p.Gly65=) | single nucleotide variant | GNAS-related disorder [RCV004536888]|not provided [RCV004723538] | Chr20:58853460 [GRCh38] Chr20:57428515 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_016592.5(GNAS):c.206A>T (p.His69Leu) | single nucleotide variant | GNAS-related disorder [RCV004537052]|not provided [RCV005230604] | Chr20:58840312 [GRCh38] Chr20:57415367 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_080425.4(GNAS):c.939C>G (p.Ser313Arg) | single nucleotide variant | GNAS-related disorder [RCV004542411] | Chr20:58854204 [GRCh38] Chr20:57429259 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.628G>A (p.Ala210Thr) | single nucleotide variant | GNAS-related disorder [RCV004543938] | Chr20:58853893 [GRCh38] Chr20:57428948 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.628G>T (p.Ala210Ser) | single nucleotide variant | GNAS-related disorder [RCV004532139] | Chr20:58853893 [GRCh38] Chr20:57428948 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1064A>G (p.Glu355Gly) | single nucleotide variant | GNAS-related disorder [RCV004542402] | Chr20:58854329 [GRCh38] Chr20:57429384 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1534C>T (p.Arg512Trp) | single nucleotide variant | GNAS-related disorder [RCV004542335]|Pseudopseudohypoparathyroidism [RCV005052076] | Chr20:58854799 [GRCh38] Chr20:57429854 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_080425.4(GNAS):c.1479C>T (p.Asp493=) | single nucleotide variant | GNAS-related disorder [RCV004542332] | Chr20:58854744 [GRCh38] Chr20:57429799 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.126C>T (p.Leu42=) | single nucleotide variant | GNAS-related disorder [RCV004545548] | Chr20:58840232 [GRCh38] Chr20:57415287 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.366G>C (p.Glu122Asp) | single nucleotide variant | GNAS-related disorder [RCV004544110]|not provided [RCV005412638] | Chr20:58840472 [GRCh38] Chr20:57415527 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer) | deletion | Pseudohypoparathyroidism type 1B [RCV003990730] | Chr20:58853913 [GRCh38] Chr20:57428968 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.945C>T (p.Pro315=) | single nucleotide variant | GNAS-related disorder [RCV004542586] | Chr20:58854210 [GRCh38] Chr20:57429265 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.805G>A (p.Ala269Thr) | single nucleotide variant | GNAS-related disorder [RCV004540941] | Chr20:58854070 [GRCh38] Chr20:57429125 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.768G>C (p.Ala256=) | single nucleotide variant | GNAS-related disorder [RCV004534671] | Chr20:58854033 [GRCh38] Chr20:57429088 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.369C>A (p.Thr123=) | single nucleotide variant | GNAS-related disorder [RCV004531818] | Chr20:58840475 [GRCh38] Chr20:57415530 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1732G>A (p.Gly578Arg) | single nucleotide variant | GNAS-related disorder [RCV004531792] | Chr20:58854997 [GRCh38] Chr20:57430052 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1571G>A (p.Arg524His) | single nucleotide variant | GNAS-related disorder [RCV004531923] | Chr20:58854836 [GRCh38] Chr20:57429891 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.257+974C>T | single nucleotide variant | GNAS-related disorder [RCV004544170] | Chr20:58899959 [GRCh38] Chr20:57475014 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.453G>A (p.Lys151=) | single nucleotide variant | GNAS-related disorder [RCV004537090] | Chr20:58840559 [GRCh38] Chr20:57415614 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.783G>A (p.Ser261=) | single nucleotide variant | GNAS-related disorder [RCV004537005] | Chr20:58854048 [GRCh38] Chr20:57429103 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.747C>T (p.Ala249=) | single nucleotide variant | GNAS-related disorder [RCV004540746] | Chr20:58909712 [GRCh38] Chr20:57484767 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1886A>C (p.Lys629Thr) | single nucleotide variant | GNAS-related disorder [RCV004537045]|Pseudohypoparathyroidism type 1B [RCV004560327] | Chr20:58855151 [GRCh38] Chr20:57430206 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1440T>A (p.Ala480=) | single nucleotide variant | GNAS-related disorder [RCV004539413] | Chr20:58854705 [GRCh38] Chr20:57429760 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1164G>A (p.Ala388=) | single nucleotide variant | GNAS-related disorder [RCV004539450] | Chr20:58854429 [GRCh38] Chr20:57429484 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.168C>T (p.Asn56=) | single nucleotide variant | GNAS-related disorder [RCV004539516] | Chr20:58853433 [GRCh38] Chr20:57428488 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.-58G>A | single nucleotide variant | GNAS-related disorder [RCV004532172] | Chr20:58853208 [GRCh38] Chr20:57428263 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1923G>C (p.Leu641=) | single nucleotide variant | GNAS-related disorder [RCV004532184]|not provided [RCV005256952] | Chr20:58855188 [GRCh38] Chr20:57430243 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.505C>T (p.Arg169Ter) | single nucleotide variant | GNAS-related disorder [RCV004542355] | Chr20:58840611 [GRCh38] Chr20:57415666 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-5346_2069-5335del | deletion | not provided [RCV003993205] | Chr20:58890256..58890267 [GRCh38] Chr20:57465311..57465322 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.685G>C (p.Ala229Pro) | single nucleotide variant | GNAS-related disorder [RCV004545531] | Chr20:58840791 [GRCh38] Chr20:57415846 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.231G>T (p.Pro77=) | single nucleotide variant | GNAS-related disorder [RCV004542428] | Chr20:58898959 [GRCh38] Chr20:57474014 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.570A>G (p.Glu190=) | single nucleotide variant | GNAS-related disorder [RCV004542557] | Chr20:58840676 [GRCh38] Chr20:57415731 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.-70T>C | single nucleotide variant | GNAS-related disorder [RCV004542494] | Chr20:58853196 [GRCh38] Chr20:57428251 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1491C>T (p.Pro497=) | single nucleotide variant | GNAS-related disorder [RCV004536910] | Chr20:58854756 [GRCh38] Chr20:57429811 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1803A>C (p.Arg601=) | single nucleotide variant | GNAS-related disorder [RCV004537070] | Chr20:58855068 [GRCh38] Chr20:57430123 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.26C>T (p.Thr9Ile) | single nucleotide variant | not provided [RCV003887214] | Chr20:58891752 [GRCh38] Chr20:57466807 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.60T>C (p.Arg20=) | single nucleotide variant | GNAS-related disorder [RCV004536983] | Chr20:58891786 [GRCh38] Chr20:57466841 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1729A>G (p.Ser577Gly) | single nucleotide variant | GNAS-related disorder [RCV004539481] | Chr20:58854994 [GRCh38] Chr20:57430049 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.780C>T (p.Asp260=) | single nucleotide variant | GNAS-related disorder [RCV004532198] | Chr20:58909745 [GRCh38] Chr20:57484800 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.645C>T (p.Asp215=) | single nucleotide variant | GNAS-related disorder [RCV004534505] | Chr20:58909409 [GRCh38] Chr20:57484464 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.21T>C (p.Ser7=) | single nucleotide variant | GNAS-related disorder [RCV004532151] | Chr20:58891747 [GRCh38] Chr20:57466802 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.-8C>T | single nucleotide variant | GNAS-related disorder [RCV004545688] | Chr20:58891719 [GRCh38] Chr20:57466774 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.854C>T (p.Ser285Phe) | single nucleotide variant | GNAS-related disorder [RCV004539523]|not specified [RCV005419741] | Chr20:58854119 [GRCh38] Chr20:57429174 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.774C>G (p.Val258=) | single nucleotide variant | GNAS-related disorder [RCV004532051] | Chr20:58854039 [GRCh38] Chr20:57429094 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.336C>A (p.Asn112Lys) | single nucleotide variant | GNAS-related disorder [RCV004534685] | Chr20:58903695 [GRCh38] Chr20:57478750 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.729G>A (p.Arg243=) | single nucleotide variant | GNAS-related disorder [RCV004534662] | Chr20:58840835 [GRCh38] Chr20:57415890 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.639G>A (p.Glu213=) | single nucleotide variant | GNAS-related disorder [RCV004537056]|not provided [RCV004598284] | Chr20:58840745 [GRCh38] Chr20:57415800 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.420del (p.Phe140fs) | deletion | GNAS-related disorder [RCV004542660] | Chr20:58903777 [GRCh38] Chr20:57478832 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.-18GCC[5] | microsatellite | GNAS-related disorder [RCV004542541] | Chr20:58891707..58891709 [GRCh38] Chr20:57466762..57466764 [GRCh37] Chr20:20q13.32 |
benign |
NM_080425.4(GNAS):c.158C>G (p.Pro53Arg) | single nucleotide variant | GNAS-related disorder [RCV004531837] | Chr20:58853423 [GRCh38] Chr20:57428478 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1654C>T (p.Arg552Trp) | single nucleotide variant | GNAS-related disorder [RCV004537115] | Chr20:58854919 [GRCh38] Chr20:57429974 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1985A>G (p.Glu662Gly) | single nucleotide variant | GNAS-related disorder [RCV004537002] | Chr20:58855250 [GRCh38] Chr20:57430305 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.586-4T>G | single nucleotide variant | GNAS-related disorder [RCV004531899]|not provided [RCV005064723] | Chr20:58909346 [GRCh38] Chr20:57484401 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1980C>T (p.Arg660=) | single nucleotide variant | GNAS-related disorder [RCV004542449] | Chr20:58855245 [GRCh38] Chr20:57430300 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.581T>C (p.Val194Ala) | single nucleotide variant | GNAS-related disorder [RCV004537044] | Chr20:58853846 [GRCh38] Chr20:57428901 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1255G>T (p.Asp419Tyr) | single nucleotide variant | GNAS-related disorder [RCV004537024] | Chr20:58854520 [GRCh38] Chr20:57429575 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.266A>G (p.Glu89Gly) | single nucleotide variant | GNAS-related disorder [RCV004539478]|not provided [RCV005426266] | Chr20:58840372 [GRCh38] Chr20:57415427 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1150G>A (p.Gly384Arg) | single nucleotide variant | GNAS-related disorder [RCV004539427] | Chr20:58854415 [GRCh38] Chr20:57429470 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1306G>T (p.Ala436Ser) | single nucleotide variant | GNAS-related disorder [RCV004540920] | Chr20:58854571 [GRCh38] Chr20:57429626 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.139G>A (p.Gly47Ser) | single nucleotide variant | GNAS-related disorder [RCV004536906] | Chr20:58891865 [GRCh38] Chr20:57466920 [GRCh37] Chr20:20q13.32 |
likely pathogenic|uncertain significance |
NM_000516.7(GNAS):c.432+14C>G | single nucleotide variant | not specified [RCV004526354] | Chr20:58903805 [GRCh38] Chr20:57478860 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.-3G>A | single nucleotide variant | GNAS-related disorder [RCV004532162] | Chr20:58891724 [GRCh38] Chr20:57466779 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.589G>A (p.Glu197Lys) | single nucleotide variant | GNAS-related disorder [RCV004544036] | Chr20:58840695 [GRCh38] Chr20:57415750 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.592G>A (p.Asp198Asn) | single nucleotide variant | GNAS-related disorder [RCV004542447]|not provided [RCV004585089] | Chr20:58840698 [GRCh38] Chr20:57415753 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1092C>G (p.Ala364=) | single nucleotide variant | not provided [RCV003887157] | Chr20:58854357 [GRCh38] Chr20:57429412 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.87G>A (p.Gln29=) | single nucleotide variant | GNAS-related disorder [RCV004537106]|not provided [RCV005242472] | Chr20:58891813 [GRCh38] Chr20:57466868 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1163C>A (p.Ala388Glu) | single nucleotide variant | GNAS-related disorder [RCV004540982] | Chr20:58854428 [GRCh38] Chr20:57429483 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.303A>G (p.Leu101=) | single nucleotide variant | GNAS-related disorder [RCV004539236] | Chr20:58840409 [GRCh38] Chr20:57415464 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.48C>G (p.Arg16=) | single nucleotide variant | GNAS-related disorder [RCV004531996] | Chr20:58853313 [GRCh38] Chr20:57428368 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.6C>T (p.Gly2=) | single nucleotide variant | GNAS-related disorder [RCV004534639] | Chr20:58853271 [GRCh38] Chr20:57428326 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1100_1132delinsATGTC (p.Val367fs) | indel | GNAS-related disorder [RCV004544207] | Chr20:58910744..58910776 [GRCh38] Chr20:57485799..57485831 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.140G>A (p.Gly47Asp) | single nucleotide variant | See cases [RCV003886327] | Chr20:58895612 [GRCh38] Chr20:57470667 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_016592.5(GNAS):c.511C>T (p.Pro171Ser) | single nucleotide variant | GNAS-related disorder [RCV004539250] | Chr20:58840617 [GRCh38] Chr20:57415672 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.366G>A (p.Glu122=) | single nucleotide variant | GNAS-related disorder [RCV004531919] | Chr20:58840472 [GRCh38] Chr20:57415527 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.88C>T (p.Leu30=) | single nucleotide variant | GNAS-related disorder [RCV004539527] | Chr20:58891814 [GRCh38] Chr20:57466869 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.27G>A (p.Gln9=) | single nucleotide variant | GNAS-related disorder [RCV004531914] | Chr20:58840133 [GRCh38] Chr20:57415188 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.723G>T (p.Gly241=) | single nucleotide variant | GNAS-related disorder [RCV004542535] | Chr20:58853988 [GRCh38] Chr20:57429043 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.41A>G (p.Asn14Ser) | single nucleotide variant | GNAS-related disorder [RCV004531806]|McCune-Albright syndrome [RCV005030358] | Chr20:58891767 [GRCh38] Chr20:57466822 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.139+9G>A | single nucleotide variant | GNAS-related disorder [RCV004531864] | Chr20:58891874 [GRCh38] Chr20:57466929 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1642G>C (p.Ala548Pro) | single nucleotide variant | not specified [RCV003988315] | Chr20:58854907 [GRCh38] Chr20:57429962 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.231del (p.Gln78fs) | deletion | McCune-Albright syndrome [RCV003988604] | Chr20:58898959 [GRCh38] Chr20:57474014 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.402G>A (p.Val134=) | single nucleotide variant | GNAS-related disorder [RCV004531990] | Chr20:58903761 [GRCh38] Chr20:57478816 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.286T>G (p.Ser96Ala) | single nucleotide variant | GNAS-related disorder [RCV004534447] | Chr20:58840392 [GRCh38] Chr20:57415447 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1830C>A (p.Asn610Lys) | single nucleotide variant | GNAS-related disorder [RCV004539256] | Chr20:58855095 [GRCh38] Chr20:57430150 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.621G>A (p.Ser207=) | single nucleotide variant | GNAS-related disorder [RCV004539260] | Chr20:58840727 [GRCh38] Chr20:57415782 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1517G>A (p.Arg506Gln) | single nucleotide variant | GNAS-related disorder [RCV004534482] | Chr20:58854782 [GRCh38] Chr20:57429837 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.642G>T (p.Lys214Asn) | single nucleotide variant | GNAS-related disorder [RCV004531856] | Chr20:58840748 [GRCh38] Chr20:57415803 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.23A>C (p.Gln8Pro) | single nucleotide variant | GNAS-related disorder [RCV004531847] | Chr20:58840129 [GRCh38] Chr20:57415184 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1513A>G (p.Thr505Ala) | single nucleotide variant | GNAS-related disorder [RCV004536955] | Chr20:58854778 [GRCh38] Chr20:57429833 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.724C>T (p.Leu242Phe) | single nucleotide variant | GNAS-related disorder [RCV004537009] | Chr20:58853989 [GRCh38] Chr20:57429044 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.-18GCC[4] | microsatellite | GNAS-related disorder [RCV004539475] | Chr20:58891707..58891712 [GRCh38] Chr20:57466762..57466767 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.585+3G>A | single nucleotide variant | GNAS-related disorder [RCV004534583]|not provided [RCV005101604] | Chr20:58909219 [GRCh38] Chr20:57484274 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_080425.4(GNAS):c.78C>A (p.Pro26=) | single nucleotide variant | GNAS-related disorder [RCV004539391] | Chr20:58853343 [GRCh38] Chr20:57428398 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.309C>T (p.Tyr103=) | single nucleotide variant | GNAS-related disorder [RCV004539461] | Chr20:58840415 [GRCh38] Chr20:57415470 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1797C>T (p.Arg599=) | single nucleotide variant | GNAS-related disorder [RCV004532153] | Chr20:58855062 [GRCh38] Chr20:57430117 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.506G>A (p.Arg169Gln) | single nucleotide variant | GNAS-related disorder [RCV004532175] | Chr20:58840612 [GRCh38] Chr20:57415667 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1299_1334del (p.Ala436_Pro447del) | deletion | GNAS-related disorder [RCV004532177] | Chr20:58854542..58854577 [GRCh38] Chr20:57429597..57429632 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1589C>G (p.Pro530Arg) | single nucleotide variant | GNAS-related disorder [RCV004543994] | Chr20:58854854 [GRCh38] Chr20:57429909 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.417C>A (p.Thr139=) | single nucleotide variant | GNAS-related disorder [RCV004532201] | Chr20:58840523 [GRCh38] Chr20:57415578 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1725C>T (p.Asp575=) | single nucleotide variant | GNAS-related disorder [RCV004532188] | Chr20:58854990 [GRCh38] Chr20:57430045 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.126C>T (p.Arg42=) | single nucleotide variant | GNAS-related disorder [RCV004532008] | Chr20:58891852 [GRCh38] Chr20:57466907 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.30G>A (p.Glu10=) | single nucleotide variant | GNAS-related disorder [RCV004534439] | Chr20:58891756 [GRCh38] Chr20:57466811 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.514A>G (p.Arg172Gly) | single nucleotide variant | GNAS-related disorder [RCV004544072] | Chr20:58853779 [GRCh38] Chr20:57428834 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.139+9_139+11del | deletion | GNAS-related disorder [RCV004536949] | Chr20:58891874..58891876 [GRCh38] Chr20:57466929..57466931 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1359C>T (p.Pro453=) | single nucleotide variant | GNAS-related disorder [RCV004542373] | Chr20:58854624 [GRCh38] Chr20:57429679 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.375C>T (p.Phe125=) | single nucleotide variant | GNAS-related disorder [RCV004544019] | Chr20:58840481 [GRCh38] Chr20:57415536 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1276G>A (p.Ala426Thr) | single nucleotide variant | GNAS-related disorder [RCV004544086] | Chr20:58854541 [GRCh38] Chr20:57429596 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1199C>A (p.Ala400Asp) | single nucleotide variant | GNAS-related disorder [RCV004540974] | Chr20:58854464 [GRCh38] Chr20:57429519 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1629G>A (p.Pro543=) | single nucleotide variant | GNAS-related disorder [RCV004545685] | Chr20:58854894 [GRCh38] Chr20:57429949 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.78C>A (p.Ile26=) | single nucleotide variant | GNAS-related disorder [RCV004543911] | Chr20:58891804 [GRCh38] Chr20:57466859 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.986C>A (p.Pro329Gln) | single nucleotide variant | not provided [RCV004592235] | Chr20:58854251 [GRCh38] Chr20:57429306 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135) | copy number gain | 20q13.13qter duplication [RCV004555205] | Chr20:50805746..64334135 [GRCh38] Chr20:20q13.13-13.33 |
pathogenic |
NM_080425.4(GNAS):c.2069-5298G>A | single nucleotide variant | not provided [RCV004546391] | Chr20:58890314 [GRCh38] Chr20:57465369 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-5205C>A | single nucleotide variant | not provided [RCV004585774] | Chr20:58890407 [GRCh38] Chr20:57465462 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1792C>T (p.Arg598Cys) | single nucleotide variant | McCune-Albright syndrome [RCV004566503] | Chr20:58855057 [GRCh38] Chr20:57430112 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.152C>G (p.Ser51Cys) | single nucleotide variant | Inborn genetic diseases [RCV004395442] | Chr20:58895624 [GRCh38] Chr20:57470679 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.716A>G (p.Asn239Ser) | single nucleotide variant | Inborn genetic diseases [RCV004395443] | Chr20:58909577 [GRCh38] Chr20:57484632 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.938del (p.Pro313fs) | deletion | not provided [RCV004697653] | Chr20:58910048 [GRCh38] Chr20:57485103 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.66C>G (p.Ala22=) | single nucleotide variant | GNAS-related disorder [RCV004736449]|not provided [RCV005103534]|not specified [RCV004690844] | Chr20:58891792 [GRCh38] Chr20:57466847 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.660-1G>A | single nucleotide variant | Inborn genetic diseases [RCV004629882] | Chr20:58909520 [GRCh38] Chr20:57484575 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_016592.5(GNAS):c.693G>A (p.Pro231=) | single nucleotide variant | not provided [RCV004585407] | Chr20:58840799 [GRCh38] Chr20:57415854 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.536C>T (p.Pro179Leu) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV004560433] | Chr20:58840642 [GRCh38] Chr20:57415697 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV004577195] | Chr20:58840140 [GRCh38] Chr20:57415195 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.31_38del (p.Asp11fs) | deletion | Pseudohypoparathyroidism type I A [RCV004596056] | Chr20:58891756..58891763 [GRCh38] Chr20:57466811..57466818 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.699dup (p.Gly234fs) | duplication | not provided [RCV004573131] | Chr20:58853961..58853962 [GRCh38] Chr20:57429016..57429017 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.285C>T (p.Ser95=) | single nucleotide variant | GNAS-related disorder [RCV004736444]|Pseudopseudohypoparathyroidism [RCV004560396] | Chr20:58853550 [GRCh38] Chr20:57428605 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.212+3A>T | single nucleotide variant | not specified [RCV004597270] | Chr20:58895687 [GRCh38] Chr20:57470742 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.322G>C (p.Ala108Pro) | single nucleotide variant | not provided [RCV004699091] | Chr20:58903681 [GRCh38] Chr20:57478736 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.586G>A (p.Gly196Arg) | single nucleotide variant | GNAS-related disorder [RCV004735293] | Chr20:58853851 [GRCh38] Chr20:57428906 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.701G>C (p.Gly234Ala) | single nucleotide variant | GNAS-related disorder [RCV004735346] | Chr20:58853966 [GRCh38] Chr20:57429021 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2000del (p.Lys667fs) | deletion | GNAS-related disorder [RCV004735405] | Chr20:58855264 [GRCh38] Chr20:57430319 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.6T>C (p.Asp2=) | single nucleotide variant | GNAS-related disorder [RCV004735437] | Chr20:58840112 [GRCh38] Chr20:57415167 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1864C>G (p.Arg622Gly) | single nucleotide variant | GNAS-related disorder [RCV004735460] | Chr20:58855129 [GRCh38] Chr20:57430184 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1622C>G (p.Pro541Arg) | single nucleotide variant | GNAS-related disorder [RCV004735464] | Chr20:58854887 [GRCh38] Chr20:57429942 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.419_420del (p.Asp139_Phe140insTer) | deletion | GNAS-related disorder [RCV004727821] | Chr20:58903777..58903778 [GRCh38] Chr20:57478832..57478833 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_016592.5(GNAS):c.479C>T (p.Thr160Ile) | single nucleotide variant | GNAS-related disorder [RCV004736077] | Chr20:58840585 [GRCh38] Chr20:57415640 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1112G>A (p.Gly371Glu) | single nucleotide variant | GNAS-related disorder [RCV004736110] | Chr20:58854377 [GRCh38] Chr20:57429432 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1895G>A (p.Arg632His) | single nucleotide variant | GNAS-related disorder [RCV004736138] | Chr20:58855160 [GRCh38] Chr20:57430215 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1103C>G (p.Ala368Gly) | single nucleotide variant | GNAS-related disorder [RCV004736568] | Chr20:58854368 [GRCh38] Chr20:57429423 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.139+8_139+9del | deletion | GNAS-related disorder [RCV004735225] | Chr20:58891872..58891873 [GRCh38] Chr20:57466927..57466928 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.719-10T>G | single nucleotide variant | GNAS-related disorder [RCV004735267] | Chr20:58909674 [GRCh38] Chr20:57484729 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.*253T>C | single nucleotide variant | GNAS-related disorder [RCV004735288] | Chr20:58911082 [GRCh38] Chr20:57486137 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1170G>A (p.Gln390=) | single nucleotide variant | GNAS-related disorder [RCV004735429] | Chr20:58910814 [GRCh38] Chr20:57485869 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.997C>T (p.Arg333Cys) | single nucleotide variant | GNAS-related disorder [RCV004736574] | Chr20:58910360 [GRCh38] Chr20:57485415 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.10C>T (p.Leu4Phe) | single nucleotide variant | GNAS-related disorder [RCV004736637] | Chr20:58891736 [GRCh38] Chr20:57466791 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.909T>G (p.Ala303=) | single nucleotide variant | GNAS-related disorder [RCV004735297] | Chr20:58910020 [GRCh38] Chr20:57485075 [GRCh37] Chr20:20q13.32 |
likely benign |
NR_002785.2(GNAS-AS1):n.819+1831C>T | single nucleotide variant | GNAS-AS1-related condition [RCV004758969] | Chr20:58840106 [GRCh38] Chr20:57415161 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.809C>T (p.Ala270Val) | single nucleotide variant | not provided [RCV004760257] | Chr20:58854074 [GRCh38] Chr20:57429129 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1084C>T (p.His362Tyr) | single nucleotide variant | GNAS-related disorder [RCV004735316] | Chr20:58910728 [GRCh38] Chr20:57485783 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.6C>G (p.Gly2=) | single nucleotide variant | GNAS-related disorder [RCV004735356] | Chr20:58891732 [GRCh38] Chr20:57466787 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.111_112delinsTA (p.Tyr37_Arg38=) | indel | GNAS-related disorder [RCV004735366] | Chr20:58891837..58891838 [GRCh38] Chr20:57466892..57466893 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.-5C>T | single nucleotide variant | GNAS-related disorder [RCV004735977] | Chr20:58891722 [GRCh38] Chr20:57466777 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.-30_-4del | deletion | GNAS-related disorder [RCV004736559] | Chr20:58891694..58891720 [GRCh38] Chr20:57466749..57466775 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1074A>G (p.Ala358=) | single nucleotide variant | not provided [RCV004766277] | Chr20:58854339 [GRCh38] Chr20:57429394 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.685G>A (p.Asp229Asn) | single nucleotide variant | GNAS-related disorder [RCV004735024] | Chr20:58909546 [GRCh38] Chr20:57484601 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.257+965A>G | single nucleotide variant | GNAS-related disorder [RCV004735064] | Chr20:58899950 [GRCh38] Chr20:57475005 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.13G>A (p.Gly5Arg) | single nucleotide variant | GNAS-related disorder [RCV004735073] | Chr20:58891739 [GRCh38] Chr20:57466794 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1044C>T (p.Ile348=) | single nucleotide variant | GNAS-related disorder [RCV004735262] | Chr20:58910688 [GRCh38] Chr20:57485743 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1447C>T (p.Arg483Trp) | single nucleotide variant | GNAS-related disorder [RCV004736452]|not provided [RCV004722728] | Chr20:58854712 [GRCh38] Chr20:57429767 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.285C>T (p.Ile95=) | single nucleotide variant | GNAS-related disorder [RCV004736061]|not provided [RCV005059889] | Chr20:58903558 [GRCh38] Chr20:57478613 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.313-15C>G | single nucleotide variant | GNAS-related disorder [RCV004736583] | Chr20:58903657 [GRCh38] Chr20:57478712 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.253G>A (p.Asp85Asn) | single nucleotide variant | GNAS-related disorder [RCV004736604] | Chr20:58898981 [GRCh38] Chr20:57474036 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.109G>A (p.Ala37Thr) | single nucleotide variant | GNAS-related disorder [RCV004724322] | Chr20:58853374 [GRCh38] Chr20:57428429 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1362_1363delinsTG (p.Ser455Ala) | indel | GNAS-related disorder [RCV004727887] | Chr20:58854627..58854628 [GRCh38] Chr20:57429682..57429683 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.-5G>A | single nucleotide variant | GNAS-related disorder [RCV004735018] | Chr20:58853261 [GRCh38] Chr20:57428316 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1945C>T (p.Arg649Cys) | single nucleotide variant | GNAS-related disorder [RCV004735081] | Chr20:58855210 [GRCh38] Chr20:57430265 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.322C>A (p.Gln108Lys) | single nucleotide variant | GNAS-related disorder [RCV004735091] | Chr20:58853587 [GRCh38] Chr20:57428642 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.264C>G (p.His88Gln) | single nucleotide variant | GNAS-related disorder [RCV004735125] | Chr20:58840370 [GRCh38] Chr20:57415425 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.338_385dup (p.Glu128_Pro129insArgGluThrGluSerGluIleGluSerGluThrAspPheGluThrGlu) | duplication | GNAS-related disorder [RCV004735287] | Chr20:58840443..58840444 [GRCh38] Chr20:57415498..57415499 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.778G>T (p.Ala260Ser) | single nucleotide variant | GNAS-related disorder [RCV004735312] | Chr20:58854043 [GRCh38] Chr20:57429098 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1737_1739del (p.Asp579del) | deletion | GNAS-related disorder [RCV004735334] | Chr20:58855000..58855002 [GRCh38] Chr20:57430055..57430057 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.796C>T (p.Leu266Phe) | single nucleotide variant | GNAS-related disorder [RCV004735427] | Chr20:58854061 [GRCh38] Chr20:57429116 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1445C>T (p.Thr482Ile) | single nucleotide variant | GNAS-related disorder [RCV004736002] | Chr20:58854710 [GRCh38] Chr20:57429765 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1163C>G (p.Ala388Gly) | single nucleotide variant | GNAS-related disorder [RCV004736009] | Chr20:58854428 [GRCh38] Chr20:57429483 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1156G>A (p.Ala386Thr) | single nucleotide variant | GNAS-related disorder [RCV004736473] | Chr20:58854421 [GRCh38] Chr20:57429476 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.377A>G (p.Glu126Gly) | single nucleotide variant | GNAS-related disorder [RCV004736581]|not provided [RCV005103688] | Chr20:58840483 [GRCh38] Chr20:57415538 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.107C>A (p.Ala36Glu) | single nucleotide variant | GNAS-related disorder [RCV004736639] | Chr20:58853372 [GRCh38] Chr20:57428427 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.288C>T (p.Ser96=) | single nucleotide variant | GNAS-related disorder [RCV004724566] | Chr20:58840394 [GRCh38] Chr20:57415449 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1825C>T (p.Arg609Cys) | single nucleotide variant | GNAS-related disorder [RCV004726535] | Chr20:58855090 [GRCh38] Chr20:57430145 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1620G>T (p.Pro540=) | single nucleotide variant | GNAS-related disorder [RCV004734999] | Chr20:58854885 [GRCh38] Chr20:57429940 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1784G>A (p.Arg595Gln) | single nucleotide variant | GNAS-related disorder [RCV004735042] | Chr20:58855049 [GRCh38] Chr20:57430104 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1677C>T (p.Arg559=) | single nucleotide variant | GNAS-related disorder [RCV004735118] | Chr20:58854942 [GRCh38] Chr20:57429997 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.647G>C (p.Arg216Pro) | single nucleotide variant | GNAS-related disorder [RCV004735174] | Chr20:58840753 [GRCh38] Chr20:57415808 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.957C>T (p.Asp319=) | single nucleotide variant | GNAS-related disorder [RCV004735236]|Inborn genetic diseases [RCV005353354] | Chr20:58854222 [GRCh38] Chr20:57429277 [GRCh37] Chr20:20q13.32 |
likely benign|uncertain significance |
NM_016592.5(GNAS):c.240del (p.Glu81fs) | deletion | GNAS-related disorder [RCV004735243] | Chr20:58840342 [GRCh38] Chr20:57415397 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1648G>A (p.Ala550Thr) | single nucleotide variant | GNAS-related disorder [RCV004735263] | Chr20:58854913 [GRCh38] Chr20:57429968 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1337C>T (p.Ala446Val) | single nucleotide variant | GNAS-related disorder [RCV004735269] | Chr20:58854602 [GRCh38] Chr20:57429657 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1971C>G (p.Ala657=) | single nucleotide variant | GNAS-related disorder [RCV004735362] | Chr20:58855236 [GRCh38] Chr20:57430291 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.550C>G (p.Leu184Val) | single nucleotide variant | GNAS-related disorder [RCV004736010] | Chr20:58853815 [GRCh38] Chr20:57428870 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.3_5delinsAAT (p.Met1_Asp2delinsIleIle) | indel | GNAS-related disorder [RCV004736021] | Chr20:58840109..58840111 [GRCh38] Chr20:57415164..57415166 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.163C>T (p.His55Tyr) | single nucleotide variant | GNAS-related disorder [RCV004736037] | Chr20:58853428 [GRCh38] Chr20:57428483 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.970A>C (p.Asn324His) | single nucleotide variant | GNAS-related disorder [RCV004736048] | Chr20:58854235 [GRCh38] Chr20:57429290 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.*4A>T | single nucleotide variant | GNAS-related disorder [RCV004736054] | Chr20:58840848 [GRCh38] Chr20:57415903 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1879C>G (p.Gln627Glu) | single nucleotide variant | GNAS-related disorder [RCV004736469] | Chr20:58855144 [GRCh38] Chr20:57430199 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1664C>A (p.Ser555Tyr) | single nucleotide variant | GNAS-related disorder [RCV004736487] | Chr20:58854929 [GRCh38] Chr20:57429984 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1277C>G (p.Ala426Gly) | single nucleotide variant | GNAS-related disorder [RCV004736622] | Chr20:58854542 [GRCh38] Chr20:57429597 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1107T>A (p.Thr369=) | single nucleotide variant | not provided [RCV004811305] | Chr20:58910751 [GRCh38] Chr20:57485806 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.2008G>T (p.Asp670Tyr) | single nucleotide variant | GNAS-related disorder [RCV004724587] | Chr20:58855273 [GRCh38] Chr20:57430328 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.479G>A (p.Arg160His) | single nucleotide variant | not provided [RCV004727558] | Chr20:58905429 [GRCh38] Chr20:57480484 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.1821A>T (p.Leu607Phe) | single nucleotide variant | GNAS-related disorder [RCV004726409] | Chr20:58855086 [GRCh38] Chr20:57430141 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2026G>A (p.Glu676Lys) | single nucleotide variant | GNAS-related disorder [RCV004726442] | Chr20:58855291 [GRCh38] Chr20:57430346 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.645C>G (p.Gly215=) | single nucleotide variant | GNAS-related disorder [RCV004730291] | Chr20:58853910 [GRCh38] Chr20:57428965 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.117del (p.Gly40fs) | deletion | GNAS-related disorder [RCV004734998] | Chr20:58853378 [GRCh38] Chr20:57428433 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1309G>T (p.Ala437Ser) | single nucleotide variant | GNAS-related disorder [RCV004735040] | Chr20:58854574 [GRCh38] Chr20:57429629 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1448G>T (p.Arg483Leu) | single nucleotide variant | GNAS-related disorder [RCV004735123] | Chr20:58854713 [GRCh38] Chr20:57429768 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.731G>A (p.Arg244Gln) | single nucleotide variant | GNAS-related disorder [RCV004735172] | Chr20:58853996 [GRCh38] Chr20:57429051 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1255G>A (p.Asp419Asn) | single nucleotide variant | GNAS-related disorder [RCV004735187] | Chr20:58854520 [GRCh38] Chr20:57429575 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.28A>G (p.Asn10Asp) | single nucleotide variant | GNAS-related disorder [RCV004735331] | Chr20:58853293 [GRCh38] Chr20:57428348 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1035G>C (p.Lys345Asn) | single nucleotide variant | GNAS-related disorder [RCV004735365] | Chr20:58854300 [GRCh38] Chr20:57429355 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.618G>A (p.Glu206=) | single nucleotide variant | GNAS-related disorder [RCV004735394] | Chr20:58840724 [GRCh38] Chr20:57415779 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1932G>A (p.Lys644=) | single nucleotide variant | GNAS-related disorder [RCV004735397] | Chr20:58855197 [GRCh38] Chr20:57430252 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.466G>A (p.Gly156Ser) | single nucleotide variant | GNAS-related disorder [RCV004735402] | Chr20:58840572 [GRCh38] Chr20:57415627 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.699T>A (p.Phe233Leu) | single nucleotide variant | GNAS-related disorder [RCV004735407] | Chr20:58853964 [GRCh38] Chr20:57429019 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2042T>C (p.Met681Thr) | single nucleotide variant | GNAS-related disorder [RCV004735424] | Chr20:58855307 [GRCh38] Chr20:57430362 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.28G>A (p.Glu10Lys) | single nucleotide variant | GNAS-related disorder [RCV004735090] | Chr20:58891754 [GRCh38] Chr20:57466809 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.438C>T (p.Phe146=) | single nucleotide variant | GNAS-related disorder [RCV004735279] | Chr20:58905388 [GRCh38] Chr20:57480443 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.27C>G (p.Thr9=) | single nucleotide variant | GNAS-related disorder [RCV004735291] | Chr20:58891753 [GRCh38] Chr20:57466808 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.5(GNAS):c.433delG | deletion | GNAS-related disorder [RCV004724531] | Chr20:58905382 [GRCh38] Chr20:57480437 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_080425.4(GNAS):c.78C>G (p.Pro26=) | single nucleotide variant | GNAS-related disorder [RCV004735965] | Chr20:58853343 [GRCh38] Chr20:57428398 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.536_543dup (p.Thr182fs) | duplication | GNAS-related disorder [RCV004735966] | Chr20:58840639..58840640 [GRCh38] Chr20:57415694..57415695 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2008G>A (p.Asp670Asn) | single nucleotide variant | GNAS-related disorder [RCV004735998] | Chr20:58855273 [GRCh38] Chr20:57430328 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.315A>G (p.Glu105=) | single nucleotide variant | GNAS-related disorder [RCV004736012] | Chr20:58840421 [GRCh38] Chr20:57415476 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.10C>T (p.Arg4Cys) | single nucleotide variant | GNAS-related disorder [RCV004736086] | Chr20:58853275 [GRCh38] Chr20:57428330 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.114C>T (p.Ser38=) | single nucleotide variant | GNAS-related disorder [RCV004736602] | Chr20:58840220 [GRCh38] Chr20:57415275 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.575A>G (p.Glu192Gly) | single nucleotide variant | GNAS-related disorder [RCV004736616] | Chr20:58840681 [GRCh38] Chr20:57415736 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1819T>C (p.Leu607=) | single nucleotide variant | GNAS-related disorder [RCV004736618] | Chr20:58855084 [GRCh38] Chr20:57430139 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.313-21_313-20insA | insertion | GNAS-related disorder [RCV004735997] | Chr20:58903651..58903652 [GRCh38] Chr20:57478706..57478707 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.-7C>A | single nucleotide variant | GNAS-related disorder [RCV004736122] | Chr20:58891720 [GRCh38] Chr20:57466775 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.128C>A (p.Pro43His) | single nucleotide variant | GNAS-related disorder [RCV004735041] | Chr20:58853393 [GRCh38] Chr20:57428448 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1861G>C (p.Gly621Arg) | single nucleotide variant | GNAS-related disorder [RCV004735103] | Chr20:58855126 [GRCh38] Chr20:57430181 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.318_319inv (p.Glu107Lys) | inversion | GNAS-related disorder [RCV004735132] | Chr20:58853583..58853584 [GRCh38] Chr20:57428638..57428639 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1408G>A (p.Ala470Thr) | single nucleotide variant | GNAS-related disorder [RCV004735149] | Chr20:58854673 [GRCh38] Chr20:57429728 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1860C>G (p.Phe620Leu) | single nucleotide variant | GNAS-related disorder [RCV004735157] | Chr20:58855125 [GRCh38] Chr20:57430180 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1818C>T (p.Asn606=) | single nucleotide variant | GNAS-related disorder [RCV004735201] | Chr20:58855083 [GRCh38] Chr20:57430138 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2068+6G>A | single nucleotide variant | GNAS-related disorder [RCV004735241] | Chr20:58855339 [GRCh38] Chr20:57430394 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+5G>A | single nucleotide variant | GNAS-related disorder [RCV004728381] | Chr20:58891870 [GRCh38] Chr20:57466925 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1211C>G (p.Ser404Cys) | single nucleotide variant | not provided [RCV004760068] | Chr20:58854476 [GRCh38] Chr20:57429531 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.455del (p.Gly152fs) | deletion | not provided [RCV004762627] | Chr20:58853718 [GRCh38] Chr20:57428773 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.113G>C (p.Arg38Pro) | single nucleotide variant | not provided [RCV004724204] | Chr20:58891839 [GRCh38] Chr20:57466894 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.344G>A (p.Trp115Ter) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004759349] | Chr20:58853609 [GRCh38] Chr20:57428664 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.971-7T>C | single nucleotide variant | GNAS-related disorder [RCV004724419] | Chr20:58910327 [GRCh38] Chr20:57485382 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1062T>C (p.Asp354=) | single nucleotide variant | GNAS-related disorder [RCV004735094] | Chr20:58910706 [GRCh38] Chr20:57485761 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.12C>G (p.Leu4=) | single nucleotide variant | GNAS-related disorder [RCV004735211] | Chr20:58891738 [GRCh38] Chr20:57466793 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.825C>T (p.Ser275=) | single nucleotide variant | GNAS-related disorder [RCV004735248] | Chr20:58909790 [GRCh38] Chr20:57484845 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.105G>A (p.Gln35=) | single nucleotide variant | GNAS-related disorder [RCV004735301] | Chr20:58891831 [GRCh38] Chr20:57466886 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.978C>T (p.Pro326=) | single nucleotide variant | GNAS-related disorder [RCV004736111] | Chr20:58910341 [GRCh38] Chr20:57485396 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.854T>C (p.Ile285Thr) | single nucleotide variant | not provided [RCV004769857] | Chr20:58909965 [GRCh38] Chr20:57485020 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.432+5G>A | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004771379] | Chr20:58903796 [GRCh38] Chr20:57478851 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_016592.5(GNAS):c.322G>C (p.Asp108His) | single nucleotide variant | GNAS-related disorder [RCV004724260] | Chr20:58840428 [GRCh38] Chr20:57415483 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.327C>T (p.Tyr109=) | single nucleotide variant | GNAS-related disorder [RCV004724461] | Chr20:58840433 [GRCh38] Chr20:57415488 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.699C>G (p.Ser233=) | single nucleotide variant | GNAS-related disorder [RCV004726491] | Chr20:58840805 [GRCh38] Chr20:57415860 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1336_1337insTCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGG (p.Ala445_Ala446insValProAspAlaProAlaAspProAspSerGlyAla) | insertion | GNAS-related disorder [RCV004728429] | Chr20:58854572..58854573 [GRCh38] Chr20:57429627..57429628 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1052_1053del (p.Arg351fs) | microsatellite | GNAS-related disorder [RCV004730183] | Chr20:58854312..58854313 [GRCh38] Chr20:57429367..57429368 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1797C>A (p.Arg599=) | single nucleotide variant | GNAS-related disorder [RCV004735031] | Chr20:58855062 [GRCh38] Chr20:57430117 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1148C>A (p.Ala383Asp) | single nucleotide variant | GNAS-related disorder [RCV004735038] | Chr20:58854413 [GRCh38] Chr20:57429468 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1142C>T (p.Pro381Leu) | single nucleotide variant | GNAS-related disorder [RCV004735044] | Chr20:58854407 [GRCh38] Chr20:57429462 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.669G>A (p.Lys223=) | single nucleotide variant | GNAS-related disorder [RCV004735053] | Chr20:58840775 [GRCh38] Chr20:57415830 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.132C>A (p.Ala44=) | single nucleotide variant | GNAS-related disorder [RCV004735056] | Chr20:58840238 [GRCh38] Chr20:57415293 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.308A>G (p.Tyr103Cys) | single nucleotide variant | GNAS-related disorder [RCV004735085] | Chr20:58840414 [GRCh38] Chr20:57415469 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.73G>A (p.Gly25Ser) | single nucleotide variant | GNAS-related disorder [RCV004735117] | Chr20:58840179 [GRCh38] Chr20:57415234 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1944G>A (p.Met648Ile) | single nucleotide variant | GNAS-related disorder [RCV004735175] | Chr20:58855209 [GRCh38] Chr20:57430264 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1405G>A (p.Ala469Thr) | single nucleotide variant | GNAS-related disorder [RCV004735199] | Chr20:58854670 [GRCh38] Chr20:57429725 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.463T>G (p.Phe155Val) | single nucleotide variant | GNAS-related disorder [RCV004735202] | Chr20:58840569 [GRCh38] Chr20:57415624 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1539G>A (p.Ala513=) | single nucleotide variant | GNAS-related disorder [RCV004735216] | Chr20:58854804 [GRCh38] Chr20:57429859 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1720G>T (p.Asp574Tyr) | single nucleotide variant | GNAS-related disorder [RCV004735332] | Chr20:58854985 [GRCh38] Chr20:57430040 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.337_348del (p.111TESE[1]) | deletion | GNAS-related disorder [RCV004736075] | Chr20:58840433..58840444 [GRCh38] Chr20:57415488..57415499 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-3905CCG[10] | microsatellite | GNAS-related disorder [RCV004736080] | Chr20:58891706..58891707 [GRCh38] Chr20:57466761..57466762 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.2002C>T (p.Leu668Phe) | single nucleotide variant | GNAS-related disorder [RCV004736093] | Chr20:58855267 [GRCh38] Chr20:57430322 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1628_1639del (p.Pro543_Thr546del) | deletion | GNAS-related disorder [RCV004736456] | Chr20:58854885..58854896 [GRCh38] Chr20:57429940..57429951 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.245C>G (p.Ser82Trp) | single nucleotide variant | GNAS-related disorder [RCV004736507] | Chr20:58840351 [GRCh38] Chr20:57415406 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.326C>T (p.Pro109Leu) | single nucleotide variant | GNAS-related disorder [RCV004736571] | Chr20:58853591 [GRCh38] Chr20:57428646 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.175C>G (p.Gln59Glu) | single nucleotide variant | not provided [RCV004760827] | Chr20:58895647 [GRCh38] Chr20:57470702 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.788C>T (p.Ala263Val) | single nucleotide variant | McCune-Albright syndrome [RCV004788230] | Chr20:58854053 [GRCh38] Chr20:57429108 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1328C>T (p.Ser443Phe) | single nucleotide variant | McCune-Albright syndrome [RCV004790029] | Chr20:58854593 [GRCh38] Chr20:57429648 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.885C>G (p.Phe295Leu) | single nucleotide variant | Pseudohypoparathyroidism type I A [RCV004795597] | Chr20:58854150 [GRCh38] Chr20:57429205 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_016592.5(GNAS):c.610C>G (p.Pro204Ala) | single nucleotide variant | GNAS-related disorder [RCV004724700] | Chr20:58840716 [GRCh38] Chr20:57415771 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1509T>C (p.Ser503=) | single nucleotide variant | GNAS-related disorder [RCV004728056] | Chr20:58854774 [GRCh38] Chr20:57429829 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.485G>A (p.Arg162His) | single nucleotide variant | GNAS-related disorder [RCV004728515] | Chr20:58840591 [GRCh38] Chr20:57415646 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1304C>T (p.Pro435Leu) | single nucleotide variant | GNAS-related disorder [RCV004729660] | Chr20:58854569 [GRCh38] Chr20:57429624 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.923del (p.Pro308fs) | deletion | GNAS-related disorder [RCV004734989] | Chr20:58854184 [GRCh38] Chr20:57429239 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1380C>T (p.Asp460=) | single nucleotide variant | GNAS-related disorder [RCV004734996] | Chr20:58854645 [GRCh38] Chr20:57429700 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1047A>G (p.Ala349=) | single nucleotide variant | GNAS-related disorder [RCV004735063] | Chr20:58854312 [GRCh38] Chr20:57429367 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.633G>A (p.Lys211=) | single nucleotide variant | GNAS-related disorder [RCV004735145] | Chr20:58840739 [GRCh38] Chr20:57415794 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1055C>G (p.Pro352Arg) | single nucleotide variant | GNAS-related disorder [RCV004735154] | Chr20:58854320 [GRCh38] Chr20:57429375 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1294G>A (p.Gly432Arg) | single nucleotide variant | GNAS-related disorder [RCV004735246] | Chr20:58854559 [GRCh38] Chr20:57429614 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.41G>A (p.Arg14His) | single nucleotide variant | GNAS-related disorder [RCV004735308] | Chr20:58840147 [GRCh38] Chr20:57415202 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1289A>G (p.Asp430Gly) | single nucleotide variant | GNAS-related disorder [RCV004735970] | Chr20:58854554 [GRCh38] Chr20:57429609 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.32A>G (p.Asn11Ser) | single nucleotide variant | GNAS-related disorder [RCV004736001] | Chr20:58853297 [GRCh38] Chr20:57428352 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1876C>A (p.Pro626Thr) | single nucleotide variant | GNAS-related disorder [RCV004736038] | Chr20:58855141 [GRCh38] Chr20:57430196 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1167T>A (p.Asp389Glu) | single nucleotide variant | GNAS-related disorder [RCV004736064] | Chr20:58854432 [GRCh38] Chr20:57429487 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.178C>A (p.Pro60Thr) | single nucleotide variant | GNAS-related disorder [RCV004736099] | Chr20:58853443 [GRCh38] Chr20:57428498 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1893G>A (p.Ser631=) | single nucleotide variant | GNAS-related disorder [RCV004736134] | Chr20:58855158 [GRCh38] Chr20:57430213 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.624A>G (p.Ala208=) | single nucleotide variant | GNAS-related disorder [RCV004736563] | Chr20:58853889 [GRCh38] Chr20:57428944 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1184AAG[1] (p.Ter395=) | microsatellite | GNAS-related disorder [RCV004735215] | Chr20:58910828..58910830 [GRCh38] Chr20:57485883..57485885 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1031A>G (p.Asp344Gly) | single nucleotide variant | GNAS-related disorder [RCV004728177] | Chr20:58854296 [GRCh38] Chr20:57429351 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.768G>T (p.Ala256=) | single nucleotide variant | GNAS-related disorder [RCV004728489] | Chr20:58854033 [GRCh38] Chr20:57429088 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1300G>T (p.Ala434Ser) | single nucleotide variant | GNAS-related disorder [RCV004730329] | Chr20:58854565 [GRCh38] Chr20:57429620 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.445C>A (p.Pro149Thr) | single nucleotide variant | GNAS-related disorder [RCV004735003] | Chr20:58853710 [GRCh38] Chr20:57428765 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.990C>T (p.Ile330=) | single nucleotide variant | GNAS-related disorder [RCV004735019] | Chr20:58854255 [GRCh38] Chr20:57429310 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.115C>T (p.Pro39Ser) | single nucleotide variant | GNAS-related disorder [RCV004735039] | Chr20:58853380 [GRCh38] Chr20:57428435 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.693G>C (p.Pro231=) | single nucleotide variant | GNAS-related disorder [RCV004735043] | Chr20:58840799 [GRCh38] Chr20:57415854 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.41G>T (p.Arg14Leu) | single nucleotide variant | GNAS-related disorder [RCV004735057] | Chr20:58840147 [GRCh38] Chr20:57415202 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1149C>T (p.Ala383=) | single nucleotide variant | GNAS-related disorder [RCV004735075] | Chr20:58854414 [GRCh38] Chr20:57429469 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.943C>T (p.Pro315Ser) | single nucleotide variant | GNAS-related disorder [RCV004735093] | Chr20:58854208 [GRCh38] Chr20:57429263 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.813C>T (p.Asn271=) | single nucleotide variant | GNAS-related disorder [RCV004735100] | Chr20:58854078 [GRCh38] Chr20:57429133 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.320T>G (p.Phe107Cys) | single nucleotide variant | GNAS-related disorder [RCV004735165] | Chr20:58840426 [GRCh38] Chr20:57415481 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.183C>T (p.Val61=) | single nucleotide variant | GNAS-related disorder [RCV004735167] | Chr20:58853448 [GRCh38] Chr20:57428503 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1796G>A (p.Arg599His) | single nucleotide variant | GNAS-related disorder [RCV004735229] | Chr20:58855061 [GRCh38] Chr20:57430116 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1473G>T (p.Ala491=) | single nucleotide variant | GNAS-related disorder [RCV004735963] | Chr20:58854738 [GRCh38] Chr20:57429793 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1042C>A (p.Arg348=) | single nucleotide variant | GNAS-related disorder [RCV004735996] | Chr20:58854307 [GRCh38] Chr20:57429362 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.426A>G (p.Gly142=) | single nucleotide variant | GNAS-related disorder [RCV004736148] | Chr20:58853691 [GRCh38] Chr20:57428746 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1511C>T (p.Ala504Val) | single nucleotide variant | GNAS-related disorder [RCV004736151] | Chr20:58854776 [GRCh38] Chr20:57429831 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.595A>G (p.Lys199Glu) | single nucleotide variant | GNAS-related disorder [RCV004736470] | Chr20:58840701 [GRCh38] Chr20:57415756 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.638A>G (p.Glu213Gly) | single nucleotide variant | GNAS-related disorder [RCV004736479] | Chr20:58840744 [GRCh38] Chr20:57415799 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2050C>A (p.His684Asn) | single nucleotide variant | GNAS-related disorder [RCV004736484] | Chr20:58855315 [GRCh38] Chr20:57430370 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.286C>T (p.Pro96Ser) | single nucleotide variant | GNAS-related disorder [RCV004736537] | Chr20:58853551 [GRCh38] Chr20:57428606 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.879T>C (p.Ser293=) | single nucleotide variant | GNAS-related disorder [RCV004736586] | Chr20:58854144 [GRCh38] Chr20:57429199 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1598C>G (p.Pro533Arg) | single nucleotide variant | GNAS-related disorder [RCV004736607] | Chr20:58854863 [GRCh38] Chr20:57429918 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1307_1376delinsACGCCCCAGCCGATCCCGACTCCGGGGCGGTCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG (p.Ala436_Pro459delinsAspAlaProAlaAspProAspSerGlyAlaValProAspAlaProAlaAspProAspSerGlyAlaAlaProAspAlaProAlaAspProAspSerGlyAlaAlaArg) | indel | GNAS-related disorder [RCV004736614] | Chr20:58854572..58854641 [GRCh38] Chr20:57429627..57429696 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1117C>T (p.Arg373Cys) | single nucleotide variant | not provided [RCV004762814] | Chr20:58910761 [GRCh38] Chr20:57485816 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.507C>G (p.Tyr169Ter) | single nucleotide variant | not provided [RCV004702085] | Chr20:58905457 [GRCh38] Chr20:57480512 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_016592.5(GNAS):c.536C>G (p.Pro179Arg) | single nucleotide variant | not provided [RCV004761610] | Chr20:58840642 [GRCh38] Chr20:57415697 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.945del (p.Ala316fs) | deletion | not provided [RCV004764185] | Chr20:58854206 [GRCh38] Chr20:57429261 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1072G>A (p.Ala358Thr) | single nucleotide variant | not provided [RCV004776245] | Chr20:58854337 [GRCh38] Chr20:57429392 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.453G>A (p.Lys151=) | single nucleotide variant | GNAS-related disorder [RCV004734995] | Chr20:58905403 [GRCh38] Chr20:57480458 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.-9G>C | single nucleotide variant | GNAS-related disorder [RCV004735028] | Chr20:58891718 [GRCh38] Chr20:57466773 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1104C>T (p.Asp368=) | single nucleotide variant | GNAS-related disorder [RCV004735440] | Chr20:58910748 [GRCh38] Chr20:57485803 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1155C>T (p.Arg385=) | single nucleotide variant | GNAS-related disorder [RCV004735462] | Chr20:58910799 [GRCh38] Chr20:57485854 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.840-5T>C | single nucleotide variant | GNAS-related disorder [RCV004736036]|not provided [RCV005103872] | Chr20:58909946 [GRCh38] Chr20:57485001 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.53C>T (p.Ala18Val) | single nucleotide variant | GNAS-related disorder [RCV004735964] | Chr20:58891779 [GRCh38] Chr20:57466834 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.763A>T (p.Met255Leu) | single nucleotide variant | GNAS-related disorder [RCV004736464] | Chr20:58909728 [GRCh38] Chr20:57484783 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.658C>T (p.His220Tyr) | single nucleotide variant | GNAS-related disorder [RCV004736565] | Chr20:58909422 [GRCh38] Chr20:57484477 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.722T>C (p.Val241Ala) | single nucleotide variant | GNAS-related disorder [RCV004736603] | Chr20:58909687 [GRCh38] Chr20:57484742 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.380dup (p.Val128fs) | duplication | GNAS-related disorder [RCV004726660] | Chr20:58903738..58903739 [GRCh38] Chr20:57478793..57478794 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_016592.5(GNAS):c.415A>T (p.Thr139Ser) | single nucleotide variant | GNAS-related disorder [RCV004724263] | Chr20:58840521 [GRCh38] Chr20:57415576 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.785G>T (p.Ser262Ile) | single nucleotide variant | GNAS-related disorder [RCV004724378] | Chr20:58854050 [GRCh38] Chr20:57429105 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1768C>A (p.Arg590Ser) | single nucleotide variant | GNAS-related disorder [RCV004724437] | Chr20:58855033 [GRCh38] Chr20:57430088 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1000G>A (p.Val334Met) | single nucleotide variant | GNAS-related disorder [RCV004730132] | Chr20:58910363 [GRCh38] Chr20:57485418 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1359C>A (p.Pro453=) | single nucleotide variant | GNAS-related disorder [RCV004726382] | Chr20:58854624 [GRCh38] Chr20:57429679 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1691A>G (p.Tyr564Cys) | single nucleotide variant | GNAS-related disorder [RCV004726489] | Chr20:58854956 [GRCh38] Chr20:57430011 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.932T>C (p.Ile311Thr) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV005052238] | Chr20:58854197 [GRCh38] Chr20:57429252 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.238G>A (p.Ala80Thr) | single nucleotide variant | Pseudohypoparathyroidism type 1B [RCV004821153] | Chr20:58898966 [GRCh38] Chr20:57474021 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.910A>G (p.Ile304Val) | single nucleotide variant | McCune-Albright syndrome [RCV005029150] | Chr20:58854175 [GRCh38] Chr20:57429230 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.249C>G (p.Asn83Lys) | single nucleotide variant | McCune-Albright syndrome [RCV005029152] | Chr20:58898977 [GRCh38] Chr20:57474032 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.411G>A (p.Val137=) | single nucleotide variant | McCune-Albright syndrome [RCV005029153] | Chr20:58903770 [GRCh38] Chr20:57478825 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1135T>C (p.Cys379Arg) | single nucleotide variant | McCune-Albright syndrome [RCV005029157] | Chr20:58910779 [GRCh38] Chr20:57485834 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.106G>A (p.Val36Ile) | single nucleotide variant | Inborn genetic diseases [RCV004982650] | Chr20:58891832 [GRCh38] Chr20:57466887 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1381G>T (p.Ala461Ser) | single nucleotide variant | not provided [RCV004823410] | Chr20:58854646 [GRCh38] Chr20:57429701 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.112C>T (p.Arg38Trp) | single nucleotide variant | McCune-Albright syndrome [RCV005029151]|not provided [RCV005054499] | Chr20:58891838 [GRCh38] Chr20:57466893 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1058G>A (p.Gly353Glu) | single nucleotide variant | McCune-Albright syndrome [RCV005029156] | Chr20:58910702 [GRCh38] Chr20:57485757 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.870C>T (p.Phe290=) | single nucleotide variant | McCune-Albright syndrome [RCV005029154] | Chr20:58909981 [GRCh38] Chr20:57485036 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.970+1G>C | single nucleotide variant | McCune-Albright syndrome [RCV005029155] | Chr20:58910082 [GRCh38] Chr20:57485137 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.979G>A (p.Glu327Lys) | single nucleotide variant | not provided [RCV005196159] | Chr20:58910342 [GRCh38] Chr20:57485397 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.531-15T>G | single nucleotide variant | not provided [RCV005066132] | Chr20:58909147 [GRCh38] Chr20:57484202 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.179C>T (p.Pro60Leu) | single nucleotide variant | not provided [RCV005227453] | Chr20:58853444 [GRCh38] Chr20:57428499 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.345C>T (p.Pro115=) | single nucleotide variant | not provided [RCV005066473] | Chr20:58903704 [GRCh38] Chr20:57478759 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.100A>T (p.Lys34Ter) | single nucleotide variant | not provided [RCV005196138] | Chr20:58891826 [GRCh38] Chr20:57466881 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.501C>T (p.Asn167=) | single nucleotide variant | not provided [RCV005062242] | Chr20:58905451 [GRCh38] Chr20:57480506 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.660-11C>T | single nucleotide variant | not provided [RCV005066834] | Chr20:58909510 [GRCh38] Chr20:57484565 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.839+16G>A | single nucleotide variant | not provided [RCV005147294] | Chr20:58909820 [GRCh38] Chr20:57484875 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.1166G>A (p.Arg389His) | single nucleotide variant | not provided [RCV005063954] | Chr20:58910810 [GRCh38] Chr20:57485865 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.97del (p.Asp33fs) | deletion | not provided [RCV005195675] | Chr20:58891822 [GRCh38] Chr20:57466877 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.258-6C>T | single nucleotide variant | not provided [RCV005180565] | Chr20:58903525 [GRCh38] Chr20:57478580 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1706_1708del (p.Val569del) | deletion | not provided [RCV005243045] | Chr20:58854969..58854971 [GRCh38] Chr20:57430024..57430026 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.718+19G>C | single nucleotide variant | not provided [RCV005201966] | Chr20:58909598 [GRCh38] Chr20:57484653 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.269del (p.Glu90fs) | deletion | not provided [RCV005250756] | Chr20:58840375 [GRCh38] Chr20:57415430 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.865del (p.Leu289fs) | deletion | not provided [RCV005123854] | Chr20:58909975 [GRCh38] Chr20:57485030 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.719-15C>T | single nucleotide variant | not provided [RCV005158236] | Chr20:58909669 [GRCh38] Chr20:57484724 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.213-14TC[2] | microsatellite | not provided [RCV005119958] | Chr20:58898927..58898928 [GRCh38] Chr20:57473982..57473983 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1098T>C (p.Ala366=) | single nucleotide variant | not provided [RCV005160451] | Chr20:58910742 [GRCh38] Chr20:57485797 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_016592.5(GNAS):c.240C>G (p.Pro80=) | single nucleotide variant | not specified [RCV005238637] | Chr20:58840346 [GRCh38] Chr20:57415401 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.930C>T (p.Asp310=) | single nucleotide variant | not provided [RCV005198469] | Chr20:58910041 [GRCh38] Chr20:57485096 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.1394_1395insCGGGCCGCCCCGGAGTCGGGATCGGCTGGGGCGTCA (p.Pro465_Asp466insGlyProProArgSerArgAspArgLeuGlyArgGln) | insertion | not specified [RCV005231727] | Chr20:58854659..58854660 [GRCh38] Chr20:57429714..57429715 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.1039-15T>C | single nucleotide variant | not provided [RCV005203081] | Chr20:58910668 [GRCh38] Chr20:57485723 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_080425.4(GNAS):c.2069-5357_2069-5346del | deletion | not provided [RCV005244048] | Chr20:58890253..58890264 [GRCh38] Chr20:57465308..57465319 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.433-3C>G | single nucleotide variant | not provided [RCV005126985] | Chr20:58905380 [GRCh38] Chr20:57480435 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.988G>A (p.Glu330Lys) | single nucleotide variant | not provided [RCV005143156] | Chr20:58910351 [GRCh38] Chr20:57485406 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.312+11G>T | single nucleotide variant | not provided [RCV005167954] | Chr20:58903596 [GRCh38] Chr20:57478651 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.568del (p.Tyr190fs) | deletion | PHP Type 1a / PPHP [RCV005250994] | Chr20:58909199 [GRCh38] Chr20:57484254 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.694C>T (p.Arg232Cys) | single nucleotide variant | not provided [RCV005168182] | Chr20:58909555 [GRCh38] Chr20:57484610 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2069-4898G>T | single nucleotide variant | not provided [RCV005244068] | Chr20:58890714 [GRCh38] Chr20:57465769 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.878A>C (p.Lys293Thr) | single nucleotide variant | not provided [RCV005123232] | Chr20:58909989 [GRCh38] Chr20:57485044 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.75del (p.Ile26fs) | deletion | not provided [RCV005138770] | Chr20:58891801 [GRCh38] Chr20:57466856 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.530+14A>G | single nucleotide variant | not provided [RCV005077699] | Chr20:58905494 [GRCh38] Chr20:57480549 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.30G>C (p.Glu10Asp) | single nucleotide variant | not provided [RCV005121276] | Chr20:58891756 [GRCh38] Chr20:57466811 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.433-2A>C | single nucleotide variant | McCune-Albright syndrome [RCV005233144] | Chr20:58905381 [GRCh38] Chr20:57480436 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.718+6A>G | single nucleotide variant | not provided [RCV005137102] | Chr20:58909585 [GRCh38] Chr20:57484640 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.393_394delinsTG (p.Leu132Val) | indel | not provided [RCV005128892] | Chr20:58903752..58903753 [GRCh38] Chr20:57478807..57478808 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.682C>A (p.Arg228Ser) | single nucleotide variant | not provided [RCV005154588] | Chr20:58909543 [GRCh38] Chr20:57484598 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
NM_000516.7(GNAS):c.799C>T (p.Gln267Ter) | single nucleotide variant | not provided [RCV005154589] | Chr20:58909764 [GRCh38] Chr20:57484819 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.1020C>T (p.Phe340=) | single nucleotide variant | not provided [RCV005164496] | Chr20:58910383 [GRCh38] Chr20:57485438 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.313-14T>G | single nucleotide variant | not provided [RCV005134307] | Chr20:58903658 [GRCh38] Chr20:57478713 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.660-9C>T | single nucleotide variant | not provided [RCV005138994] | Chr20:58909512 [GRCh38] Chr20:57484567 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.647A>G (p.Lys216Arg) | single nucleotide variant | not provided [RCV005158718] | Chr20:58909411 [GRCh38] Chr20:57484466 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.746C>T (p.Ala249Val) | single nucleotide variant | not provided [RCV005187573] | Chr20:58909711 [GRCh38] Chr20:57484766 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.840A>G (p.Arg280=) | single nucleotide variant | not provided [RCV005077469] | Chr20:58909951 [GRCh38] Chr20:57485006 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.201G>C (p.Gly67=) | single nucleotide variant | not provided [RCV005161349] | Chr20:58895673 [GRCh38] Chr20:57470728 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+18G>T | single nucleotide variant | not provided [RCV005134905] | Chr20:58891883 [GRCh38] Chr20:57466938 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.313-4T>C | single nucleotide variant | not provided [RCV005137282] | Chr20:58903668 [GRCh38] Chr20:57478723 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.139+23_139+53dup | duplication | not provided [RCV005124934] | Chr20:58891880..58891881 [GRCh38] Chr20:57466935..57466936 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.433-14G>A | single nucleotide variant | not provided [RCV005150431] | Chr20:58905369 [GRCh38] Chr20:57480424 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.570T>G (p.Tyr190Ter) | single nucleotide variant | not provided [RCV005127336] | Chr20:58909201 [GRCh38] Chr20:57484256 [GRCh37] Chr20:20q13.32 |
pathogenic |
NM_000516.7(GNAS):c.313-5T>C | single nucleotide variant | not provided [RCV005156512] | Chr20:58903667 [GRCh38] Chr20:57478722 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.586-16C>T | single nucleotide variant | not provided [RCV005069753] | Chr20:58909334 [GRCh38] Chr20:57484389 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.660-15C>T | single nucleotide variant | not provided [RCV005110715] | Chr20:58909506 [GRCh38] Chr20:57484561 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.36G>C (p.Gln12His) | single nucleotide variant | not provided [RCV005197152] | Chr20:58891762 [GRCh38] Chr20:57466817 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.432+11C>A | single nucleotide variant | not provided [RCV005073150] | Chr20:58903802 [GRCh38] Chr20:57478857 [GRCh37] Chr20:20q13.32 |
benign |
NM_000516.7(GNAS):c.3G>C (p.Met1Ile) | single nucleotide variant | Pseudopseudohypoparathyroidism [RCV005253263] | Chr20:58891729 [GRCh38] Chr20:57466784 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.334G>C (p.Gly112Arg) | single nucleotide variant | McCune-Albright syndrome [RCV005400635] | Chr20:58853599 [GRCh38] Chr20:57428654 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.617G>A (p.Gly206Glu) | single nucleotide variant | not provided [RCV005256387] | Chr20:58909381 [GRCh38] Chr20:57484436 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1851G>A (p.Gly617=) | single nucleotide variant | McCune-Albright syndrome [RCV005400634] | Chr20:58855116 [GRCh38] Chr20:57430171 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1848C>T (p.Phe616=) | single nucleotide variant | McCune-Albright syndrome [RCV005400633] | Chr20:58855113 [GRCh38] Chr20:57430168 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.568G>C (p.Gly190Arg) | single nucleotide variant | McCune-Albright syndrome [RCV005400636] | Chr20:58853833 [GRCh38] Chr20:57428888 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1952A>G (p.Glu651Gly) | single nucleotide variant | not provided [RCV005415888] | Chr20:58855217 [GRCh38] Chr20:57430272 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.2048C>T (p.Thr683Met) | single nucleotide variant | not provided [RCV005416943] | Chr20:58855313 [GRCh38] Chr20:57430368 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.561C>T (p.Ser187=) | single nucleotide variant | not provided [RCV005425401] | Chr20:58840667 [GRCh38] Chr20:57415722 [GRCh37] Chr20:20q13.32 |
likely benign |
NM_000516.7(GNAS):c.258-1G>A | single nucleotide variant | not provided [RCV005410647] | Chr20:58903530 [GRCh38] Chr20:57478585 [GRCh37] Chr20:20q13.32 |
pathogenic |
NC_000020.10:g.55906911_58646228del | deletion | Pseudohypoparathyroidism type 1C [RCV005416264] | Chr20:55906911..58646228 [GRCh37] Chr20:20q13.31-13.33 |
pathogenic |
NM_080425.4(GNAS):c.2069-5423G>C | single nucleotide variant | not provided [RCV005413791] | Chr20:58890189 [GRCh38] Chr20:57465244 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.256A>G (p.Arg86Gly) | single nucleotide variant | not provided [RCV005413690] | Chr20:58853521 [GRCh38] Chr20:57428576 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_016592.5(GNAS):c.263A>G (p.His88Arg) | single nucleotide variant | not provided [RCV005415852] | Chr20:58840369 [GRCh38] Chr20:57415424 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_080425.4(GNAS):c.1546G>A (p.Ala516Thr) | single nucleotide variant | not provided [RCV005411838] | Chr20:58854811 [GRCh38] Chr20:57429866 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_000516.7(GNAS):c.1126T>G (p.Phe376Val) | single nucleotide variant | not provided [RCV005414189] | Chr20:58910770 [GRCh38] Chr20:57485825 [GRCh37] Chr20:20q13.32 |
likely pathogenic |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D20S459 |
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SHGC-58255 |
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RH98861 |
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RH75699 |
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RH93711 |
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GDB:180724 |
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GDB:203981 |
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GDB:393268 |
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WI-11711 |
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GNAS1 |
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PMC182207P1 |
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PMC22380P2 |
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PMC301417P1 |
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PMC301417P2 |
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SHGC-60147 |
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STS-M21142 |
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RH68035 |
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WI-18315 |
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RH47664 |
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RH11717 |
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SHGC-59923 |
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MARC_5561-5562:1031675650:1 |
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GNAS_3080 |
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D13S1553 |
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D20S541E |
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Gnas |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2438 | 2788 | 2253 | 4973 | 1726 | 2349 | 6 | 624 | 1951 | 465 | 2269 | 7305 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1615 | 175 | 1 |
RefSeq Transcripts | NG_016194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_000516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001077488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001077489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001077490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001309840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001309842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001309861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001309883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001410912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001410913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001438273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001438274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001438275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001438276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001439291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_016592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_080425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_080426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_132272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_132273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024451873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024451874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024451875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440116 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440117 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047440125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323373 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323374 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323377 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054323378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002958471 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA948160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF064092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF088184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF088185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF105253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF107846 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF246983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF493897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF493898 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH002748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ009849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ224867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ224868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ251760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK054862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK093534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK122771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL109840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL121917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL132655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL537118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AV751821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY898804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC008855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC022875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC036081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC066923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC089157 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC104928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC108315 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF800576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF879848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM894355 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ029639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ230306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT009905 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU857975 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA335150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB530031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN273438 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN295544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN403086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CX869731 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB037677 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB483472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU307657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU307658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU307659 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU307660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU307661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU307662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU307663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU307664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU307665 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY141824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF456967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC724059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M14631 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M77026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW503931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U12466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X04408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X04409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X07036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X56009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000265620 ⟹ ENSP00000265620 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000306090 ⟹ ENSP00000304472 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000306120 ⟹ ENSP00000302237 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000313949 ⟹ ENSP00000323571 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000338783 ⟹ ENSP00000345971 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000349036 ⟹ ENSP00000265621 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000354359 ⟹ ENSP00000346328 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000371075 ⟹ ENSP00000360115 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000371081 ⟹ ENSP00000360122 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000371085 ⟹ ENSP00000360126 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000371095 ⟹ ENSP00000360136 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000371098 ⟹ ENSP00000360139 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000371099 ⟹ ENSP00000360140 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000371100 ⟹ ENSP00000360141 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000371102 ⟹ ENSP00000360143 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000419558 ⟹ ENSP00000416234 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000423897 ⟹ ENSP00000412356 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000450130 ⟹ ENSP00000412424 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000453292 ⟹ ENSP00000392000 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000461152 ⟹ ENSP00000499274 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000462499 ⟹ ENSP00000499758 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000464624 ⟹ ENSP00000499607 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000464788 ⟹ ENSP00000499239 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000464960 ⟹ ENSP00000499613 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000467227 ⟹ ENSP00000499681 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000467321 ⟹ ENSP00000499523 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000468895 ⟹ ENSP00000499551 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000469431 ⟹ ENSP00000499654 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000470512 ⟹ ENSP00000499552 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000472183 ⟹ ENSP00000499673 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000475610 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000476196 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000476935 ⟹ ENSP00000499409 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000477931 ⟹ ENSP00000499660 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000478585 ⟹ ENSP00000499762 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000479025 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000480232 ⟹ ENSP00000499545 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000480975 ⟹ ENSP00000499392 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000481039 ⟹ ENSP00000499767 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000481768 ⟹ ENSP00000499644 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000482112 ⟹ ENSP00000499794 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000483387 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000484504 ⟹ ENSP00000499259 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000485673 ⟹ ENSP00000499334 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000487862 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000487981 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000488546 ⟹ ENSP00000499332 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000488652 ⟹ ENSP00000499435 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000490374 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000491348 ⟹ ENSP00000499272 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000492907 ⟹ ENSP00000499443 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000493744 ⟹ ENSP00000499376 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000493958 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000494081 ⟹ ENSP00000499352 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000496934 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000603546 ⟹ ENSP00000474802 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000604005 ⟹ ENSP00000474219 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000656419 ⟹ ENSP00000499614 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000657090 ⟹ ENSP00000499380 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000663479 ⟹ ENSP00000499353 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000667293 ⟹ ENSP00000499293 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676826 ⟹ ENSP00000504675 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682092 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682134 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682411 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682590 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682680 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682803 ⟹ ENSP00000507069 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682829 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682917 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682986 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000683015 ⟹ ENSP00000506815 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000683632 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000683932 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000684284 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000684466 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000684644 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000684761 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_000516 ⟹ NP_000507 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001077488 ⟹ NP_001070956 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001077489 ⟹ NP_001070957 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001077490 ⟹ NP_001070958 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001309840 ⟹ NP_001296769 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001309842 ⟹ NP_001296771 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001309861 ⟹ NP_001296790 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001309883 ⟹ NP_001296812 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001410912 ⟹ NP_001397841 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001410913 ⟹ NP_001397842 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_016592 ⟹ NP_057676 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_080425 ⟹ NP_536350 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_080426 ⟹ NP_536351 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_132272 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_132273 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017027812 ⟹ XP_016883301 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017027813 ⟹ XP_016883302 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017027815 ⟹ XP_016883304 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017027817 ⟹ XP_016883306 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017027818 ⟹ XP_016883307 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017027819 ⟹ XP_016883308 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017027820 ⟹ XP_016883309 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024451873 ⟹ XP_024307641 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024451875 ⟹ XP_024307643 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047440113 ⟹ XP_047296069 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440114 ⟹ XP_047296070 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440115 ⟹ XP_047296071 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440116 ⟹ XP_047296072 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440117 ⟹ XP_047296073 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440118 ⟹ XP_047296074 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440119 ⟹ XP_047296075 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440120 ⟹ XP_047296076 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440121 ⟹ XP_047296077 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440122 ⟹ XP_047296078 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440123 ⟹ XP_047296079 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440124 ⟹ XP_047296080 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047440125 ⟹ XP_047296081 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323365 ⟹ XP_054179340 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323366 ⟹ XP_054179341 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323367 ⟹ XP_054179342 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323368 ⟹ XP_054179343 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323369 ⟹ XP_054179344 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323370 ⟹ XP_054179345 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323371 ⟹ XP_054179346 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323372 ⟹ XP_054179347 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323373 ⟹ XP_054179348 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323374 ⟹ XP_054179349 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323375 ⟹ XP_054179350 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323376 ⟹ XP_054179351 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323377 ⟹ XP_054179352 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054323378 ⟹ XP_054179353 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_000507 | (Get FASTA) | NCBI Sequence Viewer |
NP_001070956 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001070957 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001070958 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001296769 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001296771 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001296790 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001296812 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001397841 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001397842 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001425202 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001425203 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001425204 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001425205 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001426220 | (Get FASTA) | NCBI Sequence Viewer | |
NP_057676 | (Get FASTA) | NCBI Sequence Viewer | |
NP_536350 | (Get FASTA) | NCBI Sequence Viewer | |
NP_536351 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883301 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883302 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883304 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883306 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883307 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883308 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883309 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024307641 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024307643 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296069 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296070 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296071 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296072 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296073 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296074 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296075 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296076 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296077 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296078 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296079 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296080 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047296081 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179340 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179341 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179342 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179343 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179344 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179345 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179346 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179347 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179348 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179349 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179350 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179351 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179352 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054179353 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA52583 | (Get FASTA) | NCBI Sequence Viewer |
AAA53146 | (Get FASTA) | NCBI Sequence Viewer | |
AAA53147 | (Get FASTA) | NCBI Sequence Viewer | |
AAA53148 | (Get FASTA) | NCBI Sequence Viewer | |
AAA53149 | (Get FASTA) | NCBI Sequence Viewer | |
AAB60334 | (Get FASTA) | NCBI Sequence Viewer | |
AAC16860 | (Get FASTA) | NCBI Sequence Viewer | |
AAC34896 | (Get FASTA) | NCBI Sequence Viewer | |
AAC34897 | (Get FASTA) | NCBI Sequence Viewer | |
AAD11804 | (Get FASTA) | NCBI Sequence Viewer | |
AAF63226 | (Get FASTA) | NCBI Sequence Viewer | |
AAH02722 | (Get FASTA) | NCBI Sequence Viewer | |
AAH08855 | (Get FASTA) | NCBI Sequence Viewer | |
AAH22875 | (Get FASTA) | NCBI Sequence Viewer | |
AAH66923 | (Get FASTA) | NCBI Sequence Viewer | |
AAH89157 | (Get FASTA) | NCBI Sequence Viewer | |
AAI04929 | (Get FASTA) | NCBI Sequence Viewer | |
AAI08316 | (Get FASTA) | NCBI Sequence Viewer | |
AAM12611 | (Get FASTA) | NCBI Sequence Viewer | |
AAM12612 | (Get FASTA) | NCBI Sequence Viewer | |
AAP88907 | (Get FASTA) | NCBI Sequence Viewer | |
AAX51890 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ33553 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ33554 | (Get FASTA) | NCBI Sequence Viewer | |
BAF98751 | (Get FASTA) | NCBI Sequence Viewer | |
BAF98765 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37135 | (Get FASTA) | NCBI Sequence Viewer | |
CAA08889 | (Get FASTA) | NCBI Sequence Viewer | |
CAA12164 | (Get FASTA) | NCBI Sequence Viewer | |
CAA12165 | (Get FASTA) | NCBI Sequence Viewer | |
CAA27996 | (Get FASTA) | NCBI Sequence Viewer | |
CAA27997 | (Get FASTA) | NCBI Sequence Viewer | |
CAA30084 | (Get FASTA) | NCBI Sequence Viewer | |
CAA39484 | (Get FASTA) | NCBI Sequence Viewer | |
CAB83214 | (Get FASTA) | NCBI Sequence Viewer | |
CAB83215 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75457 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75458 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75459 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75460 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75461 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75462 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75463 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75464 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75465 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75466 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75467 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75468 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75469 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75470 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75471 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000265620 | ||
ENSP00000265620.7 | |||
ENSP00000265621 | |||
ENSP00000302237 | |||
ENSP00000304472 | |||
ENSP00000323571.7 | |||
ENSP00000346328 | |||
ENSP00000346328.7 | |||
ENSP00000360115 | |||
ENSP00000360115.3 | |||
ENSP00000360122 | |||
ENSP00000360126 | |||
ENSP00000360126.3 | |||
ENSP00000360136 | |||
ENSP00000360136.3 | |||
ENSP00000360139.2 | |||
ENSP00000360141 | |||
ENSP00000360141.3 | |||
ENSP00000360143 | |||
ENSP00000360143.4 | |||
ENSP00000392000.2 | |||
ENSP00000416234.2 | |||
ENSP00000474219 | |||
ENSP00000499353 | |||
ENSP00000499392 | |||
ENSP00000499409 | |||
ENSP00000499435 | |||
ENSP00000499443 | |||
ENSP00000499552 | |||
ENSP00000499644.2 | |||
ENSP00000499660 | |||
ENSP00000499673 | |||
ENSP00000499762 | |||
ENSP00000499794 | |||
ENSP00000504675 | |||
GenBank Protein | O95467 | (Get FASTA) | NCBI Sequence Viewer |
P63092 | (Get FASTA) | NCBI Sequence Viewer | |
P84996 | (Get FASTA) | NCBI Sequence Viewer | |
Q5JWF2 | (Get FASTA) | NCBI Sequence Viewer | |
UQU74479 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_057676 ⟸ NM_016592 |
- Peptide Label: | isoform SCG6 |
- UniProtKB: | E1P5G2 (UniProtKB/Swiss-Prot), B2RB88 (UniProtKB/Swiss-Prot), O95417 (UniProtKB/Swiss-Prot), O95467 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_536350 ⟸ NM_080425 |
- Peptide Label: | isoform XLas |
- UniProtKB: | Q5JWF1 (UniProtKB/Swiss-Prot), Q5JW67 (UniProtKB/Swiss-Prot), O75685 (UniProtKB/Swiss-Prot), O75684 (UniProtKB/Swiss-Prot), E1P5G3 (UniProtKB/Swiss-Prot), A2A2S3 (UniProtKB/Swiss-Prot), Q9NY42 (UniProtKB/Swiss-Prot), Q5JWF2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001070958 ⟸ NM_001077490 |
- Peptide Label: | isoform Alex |
- UniProtKB: | A2A2S4 (UniProtKB/Swiss-Prot), P84996 (UniProtKB/Swiss-Prot), A0A8I5F5B5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001070956 ⟸ NM_001077488 |
- Peptide Label: | isoform f |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_000507 ⟸ NM_000516 |
- Peptide Label: | isoform GNASL |
- UniProtKB: | Q5JWD2 (UniProtKB/Swiss-Prot), Q32P26 (UniProtKB/Swiss-Prot), Q14433 (UniProtKB/Swiss-Prot), Q12927 (UniProtKB/Swiss-Prot), P04895 (UniProtKB/Swiss-Prot), E1P5G5 (UniProtKB/Swiss-Prot), A6NI00 (UniProtKB/Swiss-Prot), Q8TBC0 (UniProtKB/Swiss-Prot), Q6NXS0 (UniProtKB/Swiss-Prot), Q6NR75 (UniProtKB/Swiss-Prot), Q5JWD5 (UniProtKB/Swiss-Prot), Q5JWD4 (UniProtKB/Swiss-Prot), Q96H70 (UniProtKB/Swiss-Prot), P63092 (UniProtKB/Swiss-Prot), A0A0S2Z3H8 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_536351 ⟸ NM_080426 |
- Peptide Label: | isoform GNASS |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL), A0A0S2Z3S5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001070957 ⟸ NM_001077489 |
- Peptide Label: | isoform g |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001296790 ⟸ NM_001309861 |
- Peptide Label: | isoform h |
- UniProtKB: | B0AZR9 (UniProtKB/TrEMBL), S4R3V9 (UniProtKB/TrEMBL), A0A9K3Y787 (UniProtKB/TrEMBL), A0A590UJ22 (UniProtKB/TrEMBL), A0A590UJ58 (UniProtKB/TrEMBL), A0A590UJI6 (UniProtKB/TrEMBL), A0A590UJQ2 (UniProtKB/TrEMBL), A0A590UJY8 (UniProtKB/TrEMBL), S4R3E3 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001296812 ⟸ NM_001309883 |
- Peptide Label: | isoform Alex |
- UniProtKB: | A2A2S4 (UniProtKB/Swiss-Prot), P84996 (UniProtKB/Swiss-Prot), A0A8I5F5B5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001296769 ⟸ NM_001309840 |
- Peptide Label: | isoform h |
- UniProtKB: | B0AZR9 (UniProtKB/TrEMBL), S4R3V9 (UniProtKB/TrEMBL), A0A9K3Y787 (UniProtKB/TrEMBL), A0A590UJ22 (UniProtKB/TrEMBL), A0A590UJ58 (UniProtKB/TrEMBL), A0A590UJI6 (UniProtKB/TrEMBL), A0A590UJQ2 (UniProtKB/TrEMBL), A0A590UJY8 (UniProtKB/TrEMBL), S4R3E3 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001296771 ⟸ NM_001309842 |
- Peptide Label: | isoform i |
- UniProtKB: | Q5JWD1 (UniProtKB/TrEMBL), A2A2R6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016883304 ⟸ XM_017027815 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016883301 ⟸ XM_017027812 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A7I2V5R6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016883302 ⟸ XM_017027813 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q5JWF2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016883306 ⟸ XM_017027817 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_016883308 ⟸ XM_017027819 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_016883307 ⟸ XM_017027818 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_016883309 ⟸ XM_017027820 |
- Peptide Label: | isoform X9 |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_024307643 ⟸ XM_024451875 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_024307641 ⟸ XM_024451873 |
- Peptide Label: | isoform X6 |
- Sequence: |
Ensembl Acc Id: | ENSP00000412356 ⟸ ENST00000423897 |
Ensembl Acc Id: | ENSP00000499660 ⟸ ENST00000477931 |
Ensembl Acc Id: | ENSP00000304472 ⟸ ENST00000306090 |
Ensembl Acc Id: | ENSP00000302237 ⟸ ENST00000306120 |
Ensembl Acc Id: | ENSP00000360141 ⟸ ENST00000371100 |
Ensembl Acc Id: | ENSP00000360143 ⟸ ENST00000371102 |
Ensembl Acc Id: | ENSP00000360136 ⟸ ENST00000371095 |
Ensembl Acc Id: | ENSP00000360139 ⟸ ENST00000371098 |
Ensembl Acc Id: | ENSP00000360140 ⟸ ENST00000371099 |
Ensembl Acc Id: | ENSP00000360115 ⟸ ENST00000371075 |
Ensembl Acc Id: | ENSP00000360122 ⟸ ENST00000371081 |
Ensembl Acc Id: | ENSP00000360126 ⟸ ENST00000371085 |
Ensembl Acc Id: | ENSP00000499607 ⟸ ENST00000464624 |
Ensembl Acc Id: | ENSP00000499239 ⟸ ENST00000464788 |
Ensembl Acc Id: | ENSP00000412424 ⟸ ENST00000450130 |
Ensembl Acc Id: | ENSP00000499613 ⟸ ENST00000464960 |
Ensembl Acc Id: | ENSP00000499762 ⟸ ENST00000478585 |
Ensembl Acc Id: | ENSP00000499272 ⟸ ENST00000491348 |
Ensembl Acc Id: | ENSP00000499353 ⟸ ENST00000663479 |
Ensembl Acc Id: | ENSP00000499681 ⟸ ENST00000467227 |
Ensembl Acc Id: | ENSP00000499523 ⟸ ENST00000467321 |
Ensembl Acc Id: | ENSP00000265621 ⟸ ENST00000349036 |
Ensembl Acc Id: | ENSP00000499443 ⟸ ENST00000492907 |
Ensembl Acc Id: | ENSP00000392000 ⟸ ENST00000453292 |
Ensembl Acc Id: | ENSP00000499376 ⟸ ENST00000493744 |
Ensembl Acc Id: | ENSP00000499551 ⟸ ENST00000468895 |
Ensembl Acc Id: | ENSP00000499654 ⟸ ENST00000469431 |
Ensembl Acc Id: | ENSP00000499545 ⟸ ENST00000480232 |
Ensembl Acc Id: | ENSP00000499352 ⟸ ENST00000494081 |
Ensembl Acc Id: | ENSP00000499392 ⟸ ENST00000480975 |
Ensembl Acc Id: | ENSP00000345971 ⟸ ENST00000338783 |
Ensembl Acc Id: | ENSP00000499767 ⟸ ENST00000481039 |
Ensembl Acc Id: | ENSP00000499293 ⟸ ENST00000667293 |
Ensembl Acc Id: | ENSP00000499644 ⟸ ENST00000481768 |
Ensembl Acc Id: | ENSP00000499794 ⟸ ENST00000482112 |
Ensembl Acc Id: | ENSP00000416234 ⟸ ENST00000419558 |
Ensembl Acc Id: | ENSP00000499552 ⟸ ENST00000470512 |
Ensembl Acc Id: | ENSP00000323571 ⟸ ENST00000313949 |
Ensembl Acc Id: | ENSP00000499259 ⟸ ENST00000484504 |
Ensembl Acc Id: | ENSP00000499614 ⟸ ENST00000656419 |
Ensembl Acc Id: | ENSP00000499334 ⟸ ENST00000485673 |
Ensembl Acc Id: | ENSP00000474802 ⟸ ENST00000603546 |
Ensembl Acc Id: | ENSP00000346328 ⟸ ENST00000354359 |
Ensembl Acc Id: | ENSP00000474219 ⟸ ENST00000604005 |
Ensembl Acc Id: | ENSP00000499380 ⟸ ENST00000657090 |
Ensembl Acc Id: | ENSP00000499673 ⟸ ENST00000472183 |
Ensembl Acc Id: | ENSP00000499435 ⟸ ENST00000488652 |
Ensembl Acc Id: | ENSP00000499332 ⟸ ENST00000488546 |
Ensembl Acc Id: | ENSP00000499274 ⟸ ENST00000461152 |
Ensembl Acc Id: | ENSP00000265620 ⟸ ENST00000265620 |
Ensembl Acc Id: | ENSP00000499758 ⟸ ENST00000462499 |
Ensembl Acc Id: | ENSP00000499409 ⟸ ENST00000476935 |
Ensembl Acc Id: | ENSP00000504675 ⟸ ENST00000676826 |
Ensembl Acc Id: | ENSP00000507069 ⟸ ENST00000682803 |
Ensembl Acc Id: | ENSP00000506815 ⟸ ENST00000683015 |
RefSeq Acc Id: | XP_047296069 ⟸ XM_047440113 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296070 ⟸ XM_047440114 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A590UJR6 (UniProtKB/TrEMBL), A0A590UJB7 (UniProtKB/TrEMBL), A0A590UJQ9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296078 ⟸ XM_047440122 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A590UKA4 (UniProtKB/TrEMBL), A0A590UJF0 (UniProtKB/TrEMBL), A0A590UJG5 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296077 ⟸ XM_047440121 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A590UKA4 (UniProtKB/TrEMBL), A0A590UJF0 (UniProtKB/TrEMBL), A0A590UJG5 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296081 ⟸ XM_047440125 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A590UJR6 (UniProtKB/TrEMBL), A0A590UJB7 (UniProtKB/TrEMBL), A0A590UJQ9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296074 ⟸ XM_047440118 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A590UKB4 (UniProtKB/TrEMBL), A0A590UJA5 (UniProtKB/TrEMBL), A0A590UJB0 (UniProtKB/TrEMBL), A0A590UJJ0 (UniProtKB/TrEMBL), A0A590UK28 (UniProtKB/TrEMBL), A0A590UKA1 (UniProtKB/TrEMBL), A0A590UKA9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296073 ⟸ XM_047440117 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A590UJR6 (UniProtKB/TrEMBL), A0A590UJB7 (UniProtKB/TrEMBL), A0A590UJQ9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296076 ⟸ XM_047440120 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A590UKB4 (UniProtKB/TrEMBL), A0A590UJA5 (UniProtKB/TrEMBL), A0A590UJB0 (UniProtKB/TrEMBL), A0A590UJJ0 (UniProtKB/TrEMBL), A0A590UK28 (UniProtKB/TrEMBL), A0A590UKA1 (UniProtKB/TrEMBL), A0A590UKA9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296072 ⟸ XM_047440116 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A590UJR6 (UniProtKB/TrEMBL), A0A590UJB7 (UniProtKB/TrEMBL), A0A590UJQ9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296079 ⟸ XM_047440123 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A590UKA4 (UniProtKB/TrEMBL), A0A590UJF0 (UniProtKB/TrEMBL), A0A590UJG5 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296071 ⟸ XM_047440115 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A590UJR6 (UniProtKB/TrEMBL), A0A590UJB7 (UniProtKB/TrEMBL), A0A590UJQ9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296075 ⟸ XM_047440119 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A590UKB4 (UniProtKB/TrEMBL), A0A590UJA5 (UniProtKB/TrEMBL), A0A590UJB0 (UniProtKB/TrEMBL), A0A590UJJ0 (UniProtKB/TrEMBL), A0A590UK28 (UniProtKB/TrEMBL), A0A590UKA1 (UniProtKB/TrEMBL), A0A590UKA9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047296080 ⟸ XM_047440124 |
- Peptide Label: | isoform X9 |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001397841 ⟸ NM_001410912 |
- Peptide Label: | isoform j |
- UniProtKB: | A0A0A0MR13 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001397842 ⟸ NM_001410913 |
- Peptide Label: | isoform k |
- UniProtKB: | Q5JWE9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179345 ⟸ XM_054323370 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179346 ⟸ XM_054323371 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179347 ⟸ XM_054323372 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A590UJR6 (UniProtKB/TrEMBL), A0A590UJB7 (UniProtKB/TrEMBL), A0A590UJQ9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179353 ⟸ XM_054323378 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A590UKA4 (UniProtKB/TrEMBL), A0A590UJF0 (UniProtKB/TrEMBL), A0A590UJG5 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179340 ⟸ XM_054323365 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A7I2V5R6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179341 ⟸ XM_054323366 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054179342 ⟸ XM_054323367 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A590UJR6 (UniProtKB/TrEMBL), A0A590UJB7 (UniProtKB/TrEMBL), A0A590UJQ9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179343 ⟸ XM_054323368 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A590UKB4 (UniProtKB/TrEMBL), A0A590UJA5 (UniProtKB/TrEMBL), A0A590UJB0 (UniProtKB/TrEMBL), A0A590UJJ0 (UniProtKB/TrEMBL), A0A590UK28 (UniProtKB/TrEMBL), A0A590UKA1 (UniProtKB/TrEMBL), A0A590UKA9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179344 ⟸ XM_054323369 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054179348 ⟸ XM_054323373 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A590UJR6 (UniProtKB/TrEMBL), A0A590UJB7 (UniProtKB/TrEMBL), A0A590UJQ9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179349 ⟸ XM_054323374 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054179350 ⟸ XM_054323375 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A590UKB4 (UniProtKB/TrEMBL), A0A590UJA5 (UniProtKB/TrEMBL), A0A590UJB0 (UniProtKB/TrEMBL), A0A590UJJ0 (UniProtKB/TrEMBL), A0A590UK28 (UniProtKB/TrEMBL), A0A590UKA1 (UniProtKB/TrEMBL), A0A590UKA9 (UniProtKB/TrEMBL), Q5FWY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054179351 ⟸ XM_054323376 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054179352 ⟸ XM_054323377 |
- Peptide Label: | isoform X9 |
- UniProtKB: | Q5FWY2 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5JWF2-F1-model_v2 | AlphaFold | Q5JWF2 | 1-1037 | view protein structure |
RGD ID: | 6798787 | ||||||||
Promoter ID: | HG_KWN:39989 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000371101, OTTHUMT00000080419, OTTHUMT00000080420, OTTHUMT00000080421, OTTHUMT00000080422, OTTHUMT00000080424, OTTHUMT00000080427, OTTHUMT00000080456, OTTHUMT00000080462, OTTHUMT00000267989, OTTHUMT00000267990, OTTHUMT00000267991, OTTHUMT00000267992, UC002XZX.1, UC002XZY.1, UC010GJR.1 | ||||||||
Position: |
|
RGD ID: | 6798791 | ||||||||
Promoter ID: | HG_KWN:39991 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell_12Hour, Jurkat, K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000267993 | ||||||||
Position: |
|
RGD ID: | 6798801 | ||||||||
Promoter ID: | HG_KWN:39992 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000306082, ENST00000338783, ENST00000349036, ENST00000354359, ENST00000371081, ENST00000371082, ENST00000371095, OTTHUMT00000080429, OTTHUMT00000080431, OTTHUMT00000080433, OTTHUMT00000080437, OTTHUMT00000080444, OTTHUMT00000080445, OTTHUMT00000080446, UC002YAB.1 | ||||||||
Position: |
|
RGD ID: | 6798790 | ||||||||
Promoter ID: | HG_KWN:39993 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000080435, OTTHUMT00000080463, UC002YAC.1 | ||||||||
Position: |
|
RGD ID: | 6798792 | ||||||||
Promoter ID: | HG_KWN:39994 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | UC002YAD.1 | ||||||||
Position: |
|
RGD ID: | 6798795 | ||||||||
Promoter ID: | HG_KWN:39996 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Jurkat, K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000080458, OTTHUMT00000080459, OTTHUMT00000267994, UC002YAE.1 | ||||||||
Position: |
|
RGD ID: | 6798789 | ||||||||
Promoter ID: | HG_KWN:39997 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000080461 | ||||||||
Position: |
|
RGD ID: | 6798788 | ||||||||
Promoter ID: | HG_KWN:39998 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000080460 | ||||||||
Position: |
|
RGD ID: | 13602252 | ||||||||
Promoter ID: | EPDNEW_H27309 | ||||||||
Type: | initiation region | ||||||||
Name: | GNAS_3 | ||||||||
Description: | GNAS complex locus | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27310 EPDNEW_H27311 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13602250 | ||||||||
Promoter ID: | EPDNEW_H27310 | ||||||||
Type: | initiation region | ||||||||
Name: | GNAS_2 | ||||||||
Description: | GNAS complex locus | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27309 EPDNEW_H27311 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13602254 | ||||||||
Promoter ID: | EPDNEW_H27311 | ||||||||
Type: | initiation region | ||||||||
Name: | GNAS_1 | ||||||||
Description: | GNAS complex locus | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H27310 EPDNEW_H27309 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4392 | AgrOrtholog |
COSMIC | GNAS | COSMIC |
Ensembl Genes | ENSG00000087460 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000265620 | ENTREZGENE |
ENST00000265620.11 | UniProtKB/Swiss-Prot | |
ENST00000306090 | ENTREZGENE | |
ENST00000306120 | ENTREZGENE | |
ENST00000313949.11 | UniProtKB/Swiss-Prot | |
ENST00000349036 | ENTREZGENE | |
ENST00000354359 | ENTREZGENE | |
ENST00000354359.12 | UniProtKB/Swiss-Prot | |
ENST00000371075 | ENTREZGENE | |
ENST00000371075.7 | UniProtKB/Swiss-Prot | |
ENST00000371081 | ENTREZGENE | |
ENST00000371085 | ENTREZGENE | |
ENST00000371085.8 | UniProtKB/Swiss-Prot | |
ENST00000371095 | ENTREZGENE | |
ENST00000371095.7 | UniProtKB/Swiss-Prot | |
ENST00000371098.6 | UniProtKB/Swiss-Prot | |
ENST00000371100 | ENTREZGENE | |
ENST00000371100.9 | UniProtKB/Swiss-Prot | |
ENST00000371102 | ENTREZGENE | |
ENST00000371102.8 | UniProtKB/Swiss-Prot | |
ENST00000419558.7 | UniProtKB/Swiss-Prot | |
ENST00000453292.7 | UniProtKB/Swiss-Prot | |
ENST00000464960 | ENTREZGENE | |
ENST00000470512 | ENTREZGENE | |
ENST00000472183 | ENTREZGENE | |
ENST00000476935 | ENTREZGENE | |
ENST00000477931 | ENTREZGENE | |
ENST00000478585 | ENTREZGENE | |
ENST00000480975 | ENTREZGENE | |
ENST00000481768.6 | UniProtKB/Swiss-Prot | |
ENST00000482112 | ENTREZGENE | |
ENST00000488652 | ENTREZGENE | |
ENST00000492907 | ENTREZGENE | |
ENST00000604005 | ENTREZGENE | |
ENST00000663479 | ENTREZGENE | |
ENST00000676826 | ENTREZGENE | |
Gene3D-CATH | 1.10.400.10 | UniProtKB/Swiss-Prot |
3.40.50.300 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000087460 | GTEx |
HGNC ID | HGNC:4392 | ENTREZGENE |
Human Proteome Map | GNAS | Human Proteome Map |
InterPro | Gprotein_alpha_S | UniProtKB/Swiss-Prot |
Gprotein_alpha_su | UniProtKB/Swiss-Prot | |
GproteinA_insert | UniProtKB/Swiss-Prot | |
NESP55 | UniProtKB/Swiss-Prot | |
P-loop_NTPase | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:2778 | UniProtKB/Swiss-Prot |
NCBI Gene | 2778 | ENTREZGENE |
OMIM | 139320 | OMIM |
PANTHER | GUANINE NUCLEOTIDE-BINDING PROTEIN G(S) SUBUNIT ALPHA | UniProtKB/Swiss-Prot |
GUANINE NUCLEOTIDE-BINDING PROTEIN G(S) SUBUNIT ALPHA ISOFORMS XLAS | UniProtKB/Swiss-Prot | |
PTHR10218 | UniProtKB/Swiss-Prot | |
Pfam | G-alpha | UniProtKB/Swiss-Prot |
NESP55 | UniProtKB/Swiss-Prot | |
PharmGKB | GNAS | RGD, PharmGKB |
PRINTS | GPROTEINA | UniProtKB/Swiss-Prot |
GPROTEINAS | UniProtKB/Swiss-Prot | |
PROSITE | G_ALPHA | UniProtKB/Swiss-Prot |
SMART | G_alpha | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF47895 | UniProtKB/Swiss-Prot |
SSF52540 | UniProtKB/Swiss-Prot | |
UniProt | A0A0A0MR13 | ENTREZGENE, UniProtKB/TrEMBL |
A0A0S2Z3H8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A0S2Z3S5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A590UJ22 | ENTREZGENE | |
A0A590UJ46_HUMAN | UniProtKB/TrEMBL | |
A0A590UJ47_HUMAN | UniProtKB/TrEMBL | |
A0A590UJ58 | ENTREZGENE | |
A0A590UJA5 | ENTREZGENE | |
A0A590UJB0 | ENTREZGENE | |
A0A590UJB7 | ENTREZGENE | |
A0A590UJC9_HUMAN | UniProtKB/TrEMBL | |
A0A590UJF0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A590UJG5 | ENTREZGENE | |
A0A590UJI6 | ENTREZGENE | |
A0A590UJJ0 | ENTREZGENE | |
A0A590UJQ2 | ENTREZGENE | |
A0A590UJQ9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A590UJR6 | ENTREZGENE | |
A0A590UJS2_HUMAN | UniProtKB/TrEMBL | |
A0A590UJX3_HUMAN | UniProtKB/TrEMBL | |
A0A590UJX6_HUMAN | UniProtKB/TrEMBL | |
A0A590UJY2_HUMAN | UniProtKB/TrEMBL | |
A0A590UJY8 | ENTREZGENE | |
A0A590UK00_HUMAN | UniProtKB/TrEMBL | |
A0A590UK28 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A590UKA1 | ENTREZGENE | |
A0A590UKA4 | ENTREZGENE | |
A0A590UKA9 | ENTREZGENE | |
A0A590UKB4 | ENTREZGENE | |
A0A7I2V5R6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A804HIH4_HUMAN | UniProtKB/TrEMBL | |
A0A8I5F5B5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A9K3Y787 | ENTREZGENE | |
A2A2R6 | ENTREZGENE, UniProtKB/TrEMBL | |
A2A2S1_HUMAN | UniProtKB/TrEMBL | |
A2A2S3 | ENTREZGENE | |
A2A2S4 | ENTREZGENE | |
A6NI00 | ENTREZGENE | |
ALEX_HUMAN | UniProtKB/Swiss-Prot | |
B0AZR9 | ENTREZGENE, UniProtKB/TrEMBL | |
B2RB88 | ENTREZGENE | |
E1P5G2 | ENTREZGENE | |
E1P5G3 | ENTREZGENE | |
E1P5G5 | ENTREZGENE | |
GNAS1_HUMAN | UniProtKB/Swiss-Prot | |
GNAS2_HUMAN | UniProtKB/Swiss-Prot | |
GNAS3_HUMAN | UniProtKB/Swiss-Prot | |
H0Y7E8_HUMAN | UniProtKB/TrEMBL | |
H0Y7Z6_HUMAN | UniProtKB/TrEMBL | |
O75684 | ENTREZGENE | |
O75685 | ENTREZGENE | |
O95417 | ENTREZGENE | |
O95467 | ENTREZGENE | |
P04895 | ENTREZGENE | |
P63092 | ENTREZGENE | |
P84996 | ENTREZGENE | |
Q12927 | ENTREZGENE | |
Q14433 | ENTREZGENE | |
Q14455_HUMAN | UniProtKB/TrEMBL | |
Q32P26 | ENTREZGENE | |
Q5FWY2 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5JW67 | ENTREZGENE | |
Q5JWD1 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5JWD2 | ENTREZGENE | |
Q5JWD4 | ENTREZGENE | |
Q5JWD5 | ENTREZGENE | |
Q5JWE9 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5JWF1 | ENTREZGENE | |
Q5JWF2 | ENTREZGENE | |
Q6NR75 | ENTREZGENE | |
Q6NXS0 | ENTREZGENE | |
Q8TBC0 | ENTREZGENE | |
Q96H70 | ENTREZGENE | |
Q9NY42 | ENTREZGENE | |
S4R3E3 | ENTREZGENE | |
S4R3V9 | ENTREZGENE | |
UniProt Secondary | A2A2S3 | UniProtKB/Swiss-Prot |
A2A2S4 | UniProtKB/Swiss-Prot | |
A6NI00 | UniProtKB/Swiss-Prot | |
B2RB88 | UniProtKB/Swiss-Prot | |
E1P5G2 | UniProtKB/Swiss-Prot | |
E1P5G3 | UniProtKB/Swiss-Prot | |
E1P5G5 | UniProtKB/Swiss-Prot | |
O75684 | UniProtKB/Swiss-Prot | |
O75685 | UniProtKB/Swiss-Prot | |
O95417 | UniProtKB/Swiss-Prot | |
P04895 | UniProtKB/Swiss-Prot | |
Q12927 | UniProtKB/Swiss-Prot | |
Q14433 | UniProtKB/Swiss-Prot | |
Q32P26 | UniProtKB/Swiss-Prot | |
Q5JW67 | UniProtKB/Swiss-Prot | |
Q5JWD2 | UniProtKB/Swiss-Prot | |
Q5JWD4 | UniProtKB/Swiss-Prot | |
Q5JWD5 | UniProtKB/Swiss-Prot | |
Q5JWF1 | UniProtKB/Swiss-Prot | |
Q6NR75 | UniProtKB/Swiss-Prot | |
Q6NXS0 | UniProtKB/Swiss-Prot | |
Q8TBC0 | UniProtKB/Swiss-Prot | |
Q96H70 | UniProtKB/Swiss-Prot | |
Q9NY42 | UniProtKB/Swiss-Prot |