2778[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 153145	GRCh38/hg38 20q13.32(chr20:58630473-58881669)x3	GNAS, GNAS-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1282105	NM_016592.5(GNAS):c.-295C>G	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1280334	NM_016592.5(GNAS):c.-52A>G	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3348393	NR_002785.2(GNAS-AS1):n.819+1831C>T	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant)	GNAS-AS1-related condition	GUncertain significance
Select item 3357101	NM_016592.5(GNAS):c.3_5delinsAAT (p.Met1_Asp2delinsIleIle)	GNAS, GNAS-AS1	Indel (5 prime UTR variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 562456	NM_016592.5(GNAS):c.3G>A (p.Met1Ile)	GNAS, GNAS-AS1 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 2498888	NM_016592.5(GNAS):c.4G>A (p.Asp2Asn)	GNAS, GNAS-AS1 (D2N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3355872	NM_016592.5(GNAS):c.6T>C (p.Asp2=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 2502231	NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)	GNAS, GNAS-AS1 (R3G)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1C +2 more	GUncertain significance
Select item 1684502	NM_016592.5(GNAS):c.7C>T (p.Arg3Trp)	GNAS, GNAS-AS1 (R3W)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type I A	GUncertain significance
Select item 252708	NM_016592.5(GNAS):c.10A>G (p.Arg4Gly)	GNAS, GNAS-AS1 (R4G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3029991	NM_016592.5(GNAS):c.23A>C (p.Gln8Pro)	GNAS, GNAS-AS1 (Q8P)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3030466	NM_016592.5(GNAS):c.27G>A (p.Gln9=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3242103	NM_016592.5(GNAS):c.34C>T (p.Arg12Ter)	GNAS, GNAS-AS1 (R12*)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 3354491	NM_016592.5(GNAS):c.41G>A (p.Arg14His)	GNAS, GNAS-AS1 (R14H)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3351166	NM_016592.5(GNAS):c.41G>T (p.Arg14Leu)	GNAS, GNAS-AS1 (R14L)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2636584	NM_016592.5(GNAS):c.44A>G (p.His15Arg)	GNAS, GNAS-AS1 (H15R)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 1319045	NM_016592.5(GNAS):c.58dup (p.Leu20fs)	GNAS, GNAS-AS1 (L20fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2633317	NM_016592.5(GNAS):c.72A>G (p.Ile24Met)	GNAS, GNAS-AS1 (I24M)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3352052	NM_016592.5(GNAS):c.73G>A (p.Gly25Ser)	GNAS, GNAS-AS1 (G25S)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3349511	NM_016592.5(GNAS):c.114C>T (p.Ser38=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3051457	NM_016592.5(GNAS):c.126C>T (p.Leu42=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 2628591	NM_016592.5(GNAS):c.127C>T (p.Arg43Cys)	GNAS, GNAS-AS1 (R43C)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3351162	NM_016592.5(GNAS):c.132C>A (p.Ala44=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 2507307	NM_016592.5(GNAS):c.192_195del (p.Phe64fs)	GNAS, GNAS-AS1 (F64fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3035607	NM_016592.5(GNAS):c.206A>T (p.His69Leu)	GNAS, GNAS-AS1 (H69L)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3353733	NM_016592.5(GNAS):c.240del (p.Glu81fs)	GNAS, GNAS-AS1 (E81fs)	Deletion (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3348546	NM_016592.5(GNAS):c.245C>G (p.Ser82Trp)	GNAS, GNAS-AS1 (S82W)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 520911	NM_016592.5(GNAS):c.263dup (p.His88fs)	GNAS-AS1, GNAS (H88fs)	Duplication (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3352177	NM_016592.5(GNAS):c.264C>G (p.His88Gln)	GNAS, GNAS-AS1 (H88Q)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 1700713	NM_016592.5(GNAS):c.266AGG[1] (p.Glu90del)	GNAS, GNAS-AS1 (E90del)	Microsatellite (5 prime UTR variant)	not provided	GUncertain significance
Select item 3039289	NM_016592.5(GNAS):c.266A>G (p.Glu89Gly)	GNAS, GNAS-AS1 (E89G)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3031307	NM_016592.5(GNAS):c.286T>G (p.Ser96Ala)	GNAS-AS1, GNAS (S96A)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3346622	NM_016592.5(GNAS):c.288C>T (p.Ser96=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 1205855	NM_016592.5(GNAS):c.294C>T (p.Pro98=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2446235	NM_016592.5(GNAS):c.298T>C (p.Cys100Arg)	GNAS, GNAS-AS1 (C100R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3029235	NM_016592.5(GNAS):c.303A>G (p.Leu101=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3024405	NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)	GNAS, GNAS-AS1 (E102Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 3351632	NM_016592.5(GNAS):c.308A>G (p.Tyr103Cys)	GNAS, GNAS-AS1 (Y103C)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3038893	NM_016592.5(GNAS):c.309C>T (p.Tyr103=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3357012	NM_016592.5(GNAS):c.315A>G (p.Glu105=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3352692	NM_016592.5(GNAS):c.320T>G (p.Phe107Cys)	GNAS, GNAS-AS1 (F107C)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3346123	NM_016592.5(GNAS):c.322G>C (p.Asp108His)	GNAS, GNAS-AS1 (D108H)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3357812	NM_016592.5(GNAS):c.337_348del (p.111TESE[1])	GNAS, GNAS-AS1	Deletion (5 prime UTR variant)	GNAS-related disorder	GUncertain significance
Select item 3346446	NM_016592.5(GNAS):c.327C>T (p.Tyr109=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 134489	NM_016592.5(GNAS):c.332C>T (p.Thr111Ile)	GNAS, GNAS-AS1 (T111I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	Gnot provided
Select item 2652434	NM_016592.5(GNAS):c.334G>C (p.Glu112Gln)	GNAS, GNAS-AS1 (E112Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3354321	NM_016592.5(GNAS):c.338_385dup (p.Glu128_Pro129insArgGluThrGluSerGluIleGluSerGluThrAspPheGluThrGlu)	GNAS, GNAS-AS1	Duplication (5 prime UTR variant)	GNAS-related disorder	GUncertain significance
Select item 134488	NM_016592.5(GNAS):c.354_365del (p.Ile119_Glu122del)	GNAS-AS1, GNAS	Deletion (5 prime UTR variant)	GNAS-related disorder	GUncertain significance
Select item 2662210	NM_016592.5(GNAS):c.354_383del (p.Ile119_Glu128del)	GNAS, GNAS-AS1	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 1319015	NM_016592.5(GNAS):c.355dup (p.Ile119fs)	GNAS, GNAS-AS1 (I119fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1320375	NM_016592.5(GNAS):c.356T>G (p.Ile119Ser)	GNAS, GNAS-AS1 (I119S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 931706	NM_016592.5(GNAS):c.362C>T (p.Ser121Phe)	GNAS, GNAS-AS1 (S121F)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 2652435	NM_016592.5(GNAS):c.364G>A (p.Glu122Lys)	GNAS, GNAS-AS1 (E122K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3049774	NM_016592.5(GNAS):c.366G>C (p.Glu122Asp)	GNAS, GNAS-AS1 (E122D)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3030494	NM_016592.5(GNAS):c.366G>A (p.Glu122=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 430328	NM_016592.5(GNAS):c.367A>G (p.Thr123Ala)	GNAS, GNAS-AS1 (T123A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3029819	NM_016592.5(GNAS):c.369C>A (p.Thr123=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3048537	NM_016592.5(GNAS):c.375C>T (p.Phe125=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 1696617	NM_016592.5(GNAS):c.390_425del (p.Thr131_Glu142del)	GNAS, GNAS-AS1	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 3349359	NM_016592.5(GNAS):c.377A>G (p.Glu126Gly)	GNAS, GNAS-AS1 (E126G)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2506601	NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del)	GNAS, GNAS-AS1	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 2636041	NM_016592.5(GNAS):c.398C>T (p.Pro133Leu)	GNAS, GNAS-AS1 (P133L)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 520563	NM_016592.5(GNAS):c.409C>T (p.Pro137Ser)	GNAS, GNAS-AS1 (P137S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1320781	NM_016592.5(GNAS):c.410C>T (p.Pro137Leu)	GNAS, GNAS-AS1 (P137L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2634122	NM_016592.5(GNAS):c.412G>A (p.Glu138Lys)	GNAS, GNAS-AS1 (E138K)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3346132	NM_016592.5(GNAS):c.415A>T (p.Thr139Ser)	GNAS, GNAS-AS1 (T139S)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3043786	NM_016592.5(GNAS):c.417C>A (p.Thr139=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 1328061	NM_016592.5(GNAS):c.441G>A (p.Pro147=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3036067	NM_016592.5(GNAS):c.453G>A (p.Lys151=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3353165	NM_016592.5(GNAS):c.463T>G (p.Phe155Val)	GNAS, GNAS-AS1 (F155V)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3355554	NM_016592.5(GNAS):c.466G>A (p.Gly156Ser)	GNAS, GNAS-AS1 (G156S)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 1706317	NM_016592.5(GNAS):c.470_474dup (p.Leu159fs)	GNAS, GNAS-AS1 (L159fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 282603	NM_016592.5(GNAS):c.477_514del (p.Thr160fs)	GNAS, GNAS-AS1 (T160fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3357867	NM_016592.5(GNAS):c.479C>T (p.Thr160Ile)	GNAS, GNAS-AS1 (T160I)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3347415	NM_016592.5(GNAS):c.485G>A (p.Arg162His)	GNAS, GNAS-AS1 (R162H)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3045751	NM_016592.5(GNAS):c.505C>T (p.Arg169Ter)	GNAS, GNAS-AS1 (R169*)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3043388	NM_016592.5(GNAS):c.506G>A (p.Arg169Gln)	GNAS, GNAS-AS1 (R169Q)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3029342	NM_016592.5(GNAS):c.511C>T (p.Pro171Ser)	GNAS, GNAS-AS1 (P171S)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 1328087	NM_016592.5(GNAS):c.514G>A (p.Asp172Asn)	GNAS, GNAS-AS1 (D172N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2672880	NM_016592.5(GNAS):c.531C>G (p.Arg177=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3356377	NM_016592.5(GNAS):c.536_543dup (p.Thr182fs)	GNAS-AS1, GNAS (T182fs)	Duplication (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3361567	NM_016592.5(GNAS):c.536C>G (p.Pro179Arg)	GNAS, GNAS-AS1 (P179R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3237441	NM_016592.5(GNAS):c.536C>T (p.Pro179Leu)	GNAS, GNAS-AS1 (P179L)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudopseudohypoparathyroidism	GUncertain significance
Select item 1284575	NM_016592.5(GNAS):c.537G>A (p.Pro179=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	McCune-Albright syndrome +8 more	GLikely benign
Select item 3059708	NM_016592.5(GNAS):c.570A>G (p.Glu190=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3349654	NM_016592.5(GNAS):c.575A>G (p.Glu192Gly)	GNAS, GNAS-AS1 (E192G)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3048767	NM_016592.5(GNAS):c.589G>A (p.Glu197Lys)	GNAS, GNAS-AS1 (E197K)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3047129	NM_016592.5(GNAS):c.592G>A (p.Asp198Asn)	GNAS, GNAS-AS1 (D198N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3348138	NM_016592.5(GNAS):c.595A>G (p.Lys199Glu)	GNAS, GNAS-AS1 (K199E)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3346842	NM_016592.5(GNAS):c.610C>G (p.Pro204Ala)	GNAS, GNAS-AS1 (P204A)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2631479	NM_016592.5(GNAS):c.611C>T (p.Pro204Leu)	GNAS, GNAS-AS1 (P204L)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	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 1C +3 more	GUncertain significance

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