149775[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	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 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 2502231	NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)	GNAS, GNAS-AS1 (R3G)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder +3 more	GConflicting classifications of pathogenicity
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 +1 more	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 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 +1 more	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 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 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 520911	NM_016592.5(GNAS):c.263dup (p.His88fs)	GNAS, GNAS-AS1 (H88fs)	Duplication (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1700713	NM_016592.5(GNAS):c.266AGG[1] (p.Glu90del)	GNAS, GNAS-AS1 (E90del)	Microsatellite (5 prime UTR variant +1 more)	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, GNAS-AS1 (S96A)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
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 +1 more	GBenign/Likely benign
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 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 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 134488	NM_016592.5(GNAS):c.354_365del (p.Ile119_Glu122del)	GNAS, GNAS-AS1	Deletion (5 prime UTR variant +1 more)	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 +1 more)	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 +1 more)	not provided	GUncertain significance
Select item 2506601	NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del)	GNAS, GNAS-AS1	Deletion (5 prime UTR variant +1 more)	not provided +1 more	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 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 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 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	GLikely benign
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 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)	Pituitary adenoma 3, multiple types +8 more	GBenign/Likely 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 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)	GNAS-related disorder +1 more	GLikely benign
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-AS1, GNAS (E205K)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1C +3 more	GUncertain significance
Select item 2500392	NM_016592.5(GNAS):c.616G>C (p.Glu206Gln)	GNAS, GNAS-AS1 (E206Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3029386	NM_016592.5(GNAS):c.621G>A (p.Ser207=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 2634429	NM_016592.5(GNAS):c.631A>G (p.Lys211Glu)	GNAS, GNAS-AS1 (K211E)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2634184	NM_016592.5(GNAS):c.634GAG[1] (p.Glu213del)	GNAS, GNAS-AS1 (E213del)	Microsatellite (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3035668	NM_016592.5(GNAS):c.639G>A (p.Glu213=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder +1 more	GLikely benign
Select item 3030053	NM_016592.5(GNAS):c.642G>T (p.Lys214Asn)	GNAS, GNAS-AS1 (K214N)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 783077	NM_016592.5(GNAS):c.651T>A (p.Arg217=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3051301	NM_016592.5(GNAS):c.685G>C (p.Ala229Pro)	GNAS, GNAS-AS1 (A229P)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 1198859	NM_016592.5(GNAS):c.689C>T (p.Ser230Phe)	GNAS, GNAS-AS1 (S230F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3250676	NM_016592.5(GNAS):c.693G>A (p.Pro231=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2634213	NM_016592.5(GNAS):c.701C>T (p.Pro234Leu)	GNAS, GNAS-AS1 (P234L)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3024406	NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)	GNAS, GNAS-AS1 (G238E)	Single nucleotide variant (5 prime UTR variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 2631688	NM_016592.5(GNAS):c.713G>T (p.Gly238Val)	GNAS-AS1, GNAS (G238V)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 134490	NM_016592.5(GNAS):c.715C>A (p.Pro239Thr)	GNAS-AS1, GNAS (P239T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2630439	NM_016592.5(GNAS):c.720C>G (p.Ile240Met)	GNAS, GNAS-AS1 (I240M)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3032975	NM_016592.5(GNAS):c.729G>A (p.Arg243=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 1259094	NM_016592.5(GNAS):c.*42+21C>T	GNAS, GNAS-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186009	NM_016592.5(GNAS):c.*42+26G>A	GNAS, GNAS-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273639	NM_016592.5(GNAS):c.*42+54A>G	GNAS, GNAS-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 152971	GRCh38/hg38 20q13.32(chr20:58850610-58851543)x3	GNAS, GNAS-AS1	Copy number gain	See cases	GBenign
Select item 2652436	NM_016592.5(GNAS):c.*42+9924G>A	GNAS, GNAS-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2652437	NM_016592.5(GNAS):c.*42+10000C>T	GNAS, GNAS-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3248275	NC_000020.10:g.(?_56993257)_(57967907_?)dup	TUBB1, VAPB +14 more	Duplication	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	SPO11, TUBB1 +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2