ClinVar for MedGen (Select 10995) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671935	NM_000516.7(GNAS):c.320T>G (p.Val107Gly)	GNAS (V107G +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 2584551	NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu)	GNAS (K667E)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type 1C +3 more	GUncertain significance
Select item 2582341	NM_000516.7(GNAS):c.847C>T (p.Arg283Cys)	GNAS (R224C +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudopseudohypoparathyroidism	GUncertain significance
Select item 1803875	NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)	GNAS (D250N)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder +4 more	GUncertain significance
Select item 1803863	NM_016592.5(GNAS):c.613G>A (p.Glu205Lys)	GNAS, GNAS-AS1 (E205K)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type I A +3 more	GUncertain significance
Select item 1803856	NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys)	GNAS (R600C)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type I A +3 more	GUncertain significance
Select item 1803850	NM_080425.4(GNAS):c.787G>A (p.Ala263Thr)	GNAS (A263T)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type I A +3 more	GUncertain significance
Select item 1803844	NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser)	GNAS (T502P +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +3 more	GUncertain significance
Select item 1803837	NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)	GNAS (D236G +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1704397	NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)	GNAS (F377fs +5 more)	Microsatellite (frameshift variant +1 more)	Pseudopseudohypoparathyroidism +1 more	GPathogenic
Select item 1687574	NM_000516.7(GNAS):c.1039-1G>A	GNAS	Single nucleotide variant (splice acceptor variant)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 1686708	NM_000516.7(GNAS):c.683G>A (p.Arg228His)	GNAS (R169H +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudopseudohypoparathyroidism +8 more	GUncertain significance
Select item 1679572	NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly)	GNAS (S625G)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type I A +4 more	GUncertain significance
Select item 1647292	NM_000516.7(GNAS):c.660-19C>T	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1639287	NM_000516.7(GNAS):c.213-11C>T	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1637666	NM_000516.7(GNAS):c.312+17T>C	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1629295	NM_000516.7(GNAS):c.530+11G>A	GNAS	Single nucleotide variant (intron variant)	Progressive osseous heteroplasia +9 more	GLikely benign
Select item 1628862	NM_000516.7(GNAS):c.660-15C>A	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1626827	NM_000516.7(GNAS):c.258-7A>C	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1B +9 more	GLikely benign
Select item 1601588	NM_000516.7(GNAS):c.1038+17_1038+20del	GNAS	Deletion (intron variant)	Pseudohypoparathyroidism type 1C +8 more	GBenign/Likely benign
Select item 1597362	NM_000516.7(GNAS):c.136C>T (p.Leu46=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1596750	NM_000516.7(GNAS):c.1039-4G>A	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1560162	NM_000516.7(GNAS):c.738C>T (p.Phe246=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	ACTH-independent macronodular adrenal hyperplasia 1 +9 more	GLikely benign
Select item 1431017	NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)	GNAS (E109K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1334571	NM_000516.7(GNAS):c.124dup (p.Arg42fs)	GNAS (R42fs)	Duplication (frameshift variant +1 more)	Pseudohypoparathyroidism type 1B +4 more	GLikely pathogenic
Select item 1334503	NM_000516.7(GNAS):c.212+1_212+3del	GNAS	Deletion (splice donor variant)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 1315968	NM_080425.4(GNAS):c.1275C>T (p.Phe425=)	GNAS (S363L)	Single nucleotide variant (genic upstream transcript variant +3 more)	not provided +8 more	GUncertain significance
Select item 1299925	NM_000516.7(GNAS):c.576G>T (p.Pro192=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GLikely benign
Select item 1299647	NM_000516.7(GNAS):c.364C>G (p.Pro122Ala)	GNAS (P107A +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 1284681	NM_000516.7(GNAS):c.357G>A (p.Leu119=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1C +8 more	GBenign/Likely benign
Select item 1284589	NM_000516.7(GNAS):c.936T>C (p.Phe312=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1B +9 more	GLikely benign
Select item 1284575	NM_016592.5(GNAS):c.537G>A (p.Pro179=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B +8 more	GBenign/Likely benign
Select item 1217738	NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)	GNAS (Q31*)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism type 1C +8 more	GPathogenic
Select item 1215279	NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)	GNAS (G270R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1205936	NM_080425.4(GNAS):c.1428C>G (p.Ala476=)	GNAS (P414R)	Single nucleotide variant (missense variant +2 more)	not provided +8 more	GBenign/Likely benign
Select item 1205909	NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)	GNAS (E52K)	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 1203026	NM_080425.4(GNAS):c.1395A>C (p.Pro465=)	GNAS (Q403P)	Single nucleotide variant (missense variant +2 more)	not provided +9 more	GLikely benign
Select item 1098700	NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)	GNAS (G315C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1048823	NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)	GNAS (Q180*)	Single nucleotide variant (synonymous variant +2 more)	ACTH-independent macronodular adrenal hyperplasia 1 +8 more	GUncertain significance
Select item 1034212	NM_080425.4(GNAS):c.253T>C (p.Phe85Leu)	GNAS (F85L)	Single nucleotide variant (synonymous variant +2 more)	Pseudopseudohypoparathyroidism	GUncertain significance
Select item 995574	NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del)	GNAS (N233del +5 more)	Microsatellite (inframe_deletion +1 more)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 987921	NM_000516.5:c.(?_-424)_(257_?)dup	GNAS	Duplication	Cushing syndrome +7 more	GPathogenic
Select item 981521	NM_000516.7(GNAS):c.257+197_531-8del	LOC130066270, GNAS	Deletion (splice acceptor variant +1 more)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 931358	NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)	GNAS (A426P)	Single nucleotide variant (genic upstream transcript variant +3 more)	Pseudohypoparathyroidism type 1B +8 more	GConflicting classifications of pathogenicity
Select item 930718	NM_080425.4(GNAS):c.1323C>T (p.Pro441=)	GNAS (P379L)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism type 1B +7 more	GUncertain significance
Select item 871093	NM_000516.7(GNAS):c.348dup (p.Val117fs)	GNAS (V58fs +5 more)	Duplication (frameshift variant +1 more)	Pituitary adenoma 3, multiple types +8 more	GPathogenic
Select item 816910	NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	GNAS (R172C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 803616	NM_080425.4(GNAS):c.505C>T (p.Pro169Ser)	GNAS (P169S)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type 1B +4 more	GUncertain significance
Select item 781570	NM_080425.4(GNAS):c.1221C>G (p.Thr407=)	GNAS (P345R)	Single nucleotide variant (missense variant +2 more)	not provided +8 more	GBenign/Likely benign
Select item 748266	NM_000516.7(GNAS):c.1131C>T (p.Asn377=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GLikely benign
Select item 744959	NM_000516.7(GNAS):c.684C>T (p.Arg228=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	ACTH-independent macronodular adrenal hyperplasia 1 +8 more	GLikely benign
Select item 729219	NM_000516.7(GNAS):c.384G>A (p.Val128=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder +10 more	GBenign/Likely benign
Select item 729218	NM_000516.7(GNAS):c.366C>T (p.Pro122=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism +10 more	GBenign/Likely benign
Select item 727640	NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)	GNAS (D320N)	Single nucleotide variant (genic upstream transcript variant +3 more)	not provided +8 more	GLikely benign
Select item 722980	NM_000516.7(GNAS):c.951C>T (p.Arg317=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	McCune-Albright syndrome +9 more	GBenign/Likely benign
Select item 719213	NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)	GNAS (S305P)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 715266	NM_000516.7(GNAS):c.111C>T (p.Tyr37=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1C +9 more	GLikely benign
Select item 715265	NM_000516.7(GNAS):c.75G>A (p.Lys25=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1C +9 more	GLikely benign
Select item 635042	NM_000516.7(GNAS):c.300A>C (p.Lys100Asn)	GNAS (K101N +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 617752	NM_000516.7(GNAS):c.753C>G (p.Ser251Arg)	GNAS (S252R +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 584449	NM_080425.4(GNAS):c.1422C>T (p.Pro474=)	GNAS (P412L)	Single nucleotide variant (missense variant +2 more)	Pseudopseudohypoparathyroidism +1 more	GConflicting classifications of pathogenicity
Select item 489076	NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)	GNAS (A33D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +9 more	GUncertain significance
Select item 446491	NM_000516.7(GNAS):c.432+1G>A	GNAS	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 431104	NM_080425.4(GNAS):c.475G>A (p.Glu159Lys)	GNAS (E159K)	Single nucleotide variant (synonymous variant +2 more)	Pseudopseudohypoparathyroidism +2 more	GConflicting classifications of pathogenicity
Select item 417936	NM_080425.4(GNAS):c.1455C>A (p.Ala485=)	GNAS (P423H)	Single nucleotide variant (missense variant +2 more)	McCune-Albright syndrome +8 more	GBenign/Likely benign
Select item 417934	NM_080425.4(GNAS):c.1200C>A (p.Ala400=)	GNAS (P338Q)	Single nucleotide variant (missense variant +2 more)	Cushing syndrome +7 more	GUncertain significance
Select item 374113	NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	GNAS (Q29*)	Single nucleotide variant (intron variant +1 more)	Cushing syndrome +16 more	GPathogenic
Select item 209158	NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	GNAS (Q12*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +11 more	GPathogenic
Select item 197681	NM_000516.7(GNAS):c.393C>T (p.Ile131=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type I A +6 more	GBenign
Select item 134496	NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)	GNAS (A488T)	Single nucleotide variant (genic upstream transcript variant +3 more)	McCune-Albright syndrome +8 more	GConflicting classifications of pathogenicity
Select item 134493	NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)	GNAS (R600G)	Single nucleotide variant (synonymous variant +2 more)	not provided +8 more	GBenign/Likely benign
Select item 134491	NM_080425.4(GNAS):c.484A>G (p.Met162Val)	GNAS (M162V)	Single nucleotide variant (synonymous variant +2 more)	McCune-Albright syndrome +8 more	GBenign/Likely benign
Select item 134484	NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)	GNAS (R147S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GLikely benign
Select item 134480	NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)	GNAS (L397V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +9 more	GBenign/Likely benign
Select item 134479	NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)	GNAS (P374T +1 more)	Single nucleotide variant (missense variant +1 more)	McCune-Albright syndrome +8 more	GBenign
Select item 134475	NM_000516.7(GNAS):c.432C>T (p.Pro144=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1B +8 more	GBenign/Likely benign
Select item 15953	NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	GNAS (P115L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15950	NM_000516.7(GNAS):c.112del (p.Arg38fs)	GNAS (R38fs)	Deletion (frameshift variant +1 more)	Pseudopseudohypoparathyroidism +1 more	GPathogenic
Select item 15948	NM_000516.7(GNAS):c.302_303del (p.Glu101fs)	GNAS (E101fs +5 more)	Microsatellite (frameshift variant +1 more)	Pseudohypoparathyroidism +1 more	GPathogenic
Select item 15947	NM_000516.7(GNAS):c.617_618del (p.Gly206fs)	GNAS (G147fs +5 more)	Deletion (frameshift variant +1 more)	Pseudopseudohypoparathyroidism +1 more	GPathogenic
Select item 15943	GNAS, GLN170ALA	GNAS	Variation	Pseudopseudohypoparathyroidism	GPathogenic
Select item 15942	NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala)	GNAS (R258A +5 more)	Indel (missense variant +1 more)	Pseudopseudohypoparathyroidism	GPathogenic
Select item 15941	NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	GNAS (R258W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 15940	NM_000516.7(GNAS):c.119_139+17del	GNAS	Deletion (intron variant +1 more)	Pseudopseudohypoparathyroidism +1 more	GPathogenic
Select item 15938	NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	GNAS (D130fs +5 more)	Deletion (frameshift variant +1 more)	GNAS-related disorder +13 more	GConflicting classifications of pathogenicity
Select item 15929	NM_000516.7(GNAS):c.725del (p.Thr242fs)	GNAS (T243fs +5 more)	Deletion (frameshift variant +1 more)	Progressive osseous heteroplasia +2 more	GPathogenic
Select item 15928	NM_000516.7(GNAS):c.839+1G>C	GNAS	Single nucleotide variant (splice donor variant)	Pseudohypoparathyroidism +1 more	GPathogenic
Select item 15927	NM_000516.7(GNAS):c.1A>G (p.Met1Val)	GNAS (M1V)	Single nucleotide variant (missense variant +2 more)	Pituitary adenoma 3, multiple types +8 more	GPathogenic/Likely pathogenic

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Items: 88