ClinVar for Gene (Select 122622) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274090	NM_152328.5(ADSS1):c.859C>A (p.Pro287Thr)	ADSS1 (P82T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274081	NM_152328.5(ADSS1):c.164C>T (p.Thr55Met)	ADSS1, LOC130056631 (T55M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274060	NM_152328.5(ADSS1):c.92C>A (p.Ser31Tyr)	ADSS1, LOC130056631 (S31Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274040	NM_152328.5(ADSS1):c.719A>G (p.Tyr240Cys)	ADSS1 (Y283C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274020	NM_152328.5(ADSS1):c.1063G>A (p.Gly355Arg)	ADSS1 (G150R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274003	NM_152328.5(ADSS1):c.97G>C (p.Val33Leu)	ADSS1, LOC130056631 (V33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256779	NM_152328.5(ADSS1):c.794G>A (p.Gly265Glu)	ADSS1 (G265E +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5	GLikely pathogenic
Select item 3251526	NM_152328.5(ADSS1):c.192+3_192+21del	ADSS1	Deletion (splice donor variant +1 more)	not specified	GUncertain significance
Select item 3244106	NC_000014.8:g.(?_105201337)_(105201479_?)del	ADSS1	Deletion	not provided	GPathogenic
Select item 3244104	NC_000014.8:g.(?_105167703)_(105213340_?)del	ADSS1, INF2	Deletion	not provided	GPathogenic
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3091312	NM_152328.5(ADSS1):c.736C>A (p.Pro246Thr)	ADSS1 (P41T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091302	NM_152328.5(ADSS1):c.193-5061G>A	ADSS1 (A23T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3091299	NM_152328.5(ADSS1):c.503G>A (p.Gly168Glu)	ADSS1 (G211E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091294	NM_152328.5(ADSS1):c.470G>A (p.Gly157Glu)	ADSS1 (G200E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091283	NM_152328.5(ADSS1):c.53A>G (p.Lys18Arg)	ADSS1, LOC130056631 (K18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091276	NM_152328.5(ADSS1):c.330T>A (p.Phe110Leu)	ADSS1 (F110L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091272	NM_152328.5(ADSS1):c.37G>A (p.Gly13Ser)	ADSS1, LOC130056631 (G13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091271	NM_152328.5(ADSS1):c.248A>G (p.His83Arg)	ADSS1 (H126R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091265	NM_152328.5(ADSS1):c.194G>A (p.Gly65Glu)	ADSS1 (G108E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091259	NM_152328.5(ADSS1):c.193-4892G>T	ADSS1 (R79M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3091254	NM_152328.5(ADSS1):c.175A>G (p.Ile59Val)	ADSS1, LOC130056631 (I59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091231	NM_152328.5(ADSS1):c.129C>G (p.Asp43Glu)	ADSS1, LOC130056631 (D43E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091230	NM_152328.5(ADSS1):c.1135T>A (p.Tyr379Asn)	ADSS1 (Y174N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3091227	NM_152328.5(ADSS1):c.1027G>A (p.Asp343Asn)	ADSS1 (D138N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091224	NM_152328.5(ADSS1):c.1013G>A (p.Arg338His)	ADSS1 (R338H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091220	NM_152328.5(ADSS1):c.992T>C (p.Val331Ala)	ADSS1 (V331A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091210	NM_152328.5(ADSS1):c.103G>C (p.Val35Leu)	ADSS1, LOC130056631 (V35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091203	NM_152328.5(ADSS1):c.103G>A (p.Val35Met)	ADSS1, LOC130056631 (V35M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091201	NM_152328.5(ADSS1):c.910C>T (p.Arg304Cys)	ADSS1 (R304C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091196	NM_152328.5(ADSS1):c.101C>T (p.Thr34Met)	ADSS1, LOC130056631 (T34M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064999	NM_152328.5(ADSS1):c.1073_1073+1insT	ADSS1	Insertion (splice donor variant)	Myopathy, distal, 5	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 3047057	NM_152328.5(ADSS1):c.193-4876T>C	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	ADSS1-related disorder	GLikely benign
Select item 3046426	NM_152328.5(ADSS1):c.359-5C>T	ADSS1	Single nucleotide variant (intron variant)	ADSS1-related disorder	GLikely benign
Select item 3043333	NM_152328.5(ADSS1):c.*2C>T	ADSS1	Single nucleotide variant (3 prime UTR variant)	ADSS1-related disorder	GLikely benign
Select item 3042018	NM_152328.5(ADSS1):c.948+7C>G	ADSS1	Single nucleotide variant (intron variant)	ADSS1-related disorder	GLikely benign
Select item 3040996	NM_152328.5(ADSS1):c.1323C>A (p.Val441=)	ADSS1	Single nucleotide variant (synonymous variant)	ADSS1-related disorder	GLikely benign
Select item 3036385	NM_152328.5(ADSS1):c.225G>C (p.Val75=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related disorder	GLikely benign
Select item 3036164	NM_152328.5(ADSS1):c.234A>G (p.Lys78=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related disorder	GLikely benign
Select item 3031731	NM_152328.5(ADSS1):c.193-5130G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related disorder	GLikely benign
Select item 3024000	NM_152328.5(ADSS1):c.193-4792G>A	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020123	NM_152328.5(ADSS1):c.193-5064C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3010167	NM_152328.5(ADSS1):c.795G>A (p.Gly265=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005211	NM_152328.5(ADSS1):c.314A>G (p.His105Arg)	ADSS1 (H148R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3003320	NM_152328.5(ADSS1):c.828C>T (p.Thr276=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001573	NM_152328.5(ADSS1):c.410-18A>G	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997842	NM_152328.5(ADSS1):c.442C>T (p.Gln148Ter)	ADSS1 (Q148* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2993158	NM_152328.5(ADSS1):c.697C>T (p.Arg233Ter)	ADSS1 (R233* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2992714	NC_000014.9:g.104735024del	ADSS1	Deletion	not provided	GPathogenic
Select item 2990766	NM_152328.5(ADSS1):c.435C>T (p.Asp145=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2988446	NM_152328.5(ADSS1):c.1113T>C (p.Gly371=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981645	NM_152328.5(ADSS1):c.316T>C (p.Leu106=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2981501	NM_152328.5(ADSS1):c.594C>T (p.Asn198=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2978241	NM_152328.5(ADSS1):c.193-5079C>T	ADSS1 (Q17*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2976502	NM_152328.5(ADSS1):c.193-4975C>G	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2974260	NM_152328.5(ADSS1):c.782A>C (p.Asp261Ala)	ADSS1 (D261A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971982	NM_152328.5(ADSS1):c.1321+18C>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969286	NM_152328.5(ADSS1):c.732C>T (p.His244=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969226	NM_152328.5(ADSS1):c.906C>G (p.Thr302=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961288	NM_152328.5(ADSS1):c.1171+11T>C	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960003	NM_152328.5(ADSS1):c.193-4861C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2959212	NM_152328.5(ADSS1):c.295+16C>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904107	NM_152328.5(ADSS1):c.780C>T (p.Leu260=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892708	NM_152328.5(ADSS1):c.761del (p.Gly254fs)	ADSS1 (G254fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2875609	NM_152328.5(ADSS1):c.585-14T>C	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853411	NM_152328.5(ADSS1):c.264C>T (p.Gly88=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2821907	NM_152328.5(ADSS1):c.1171+14G>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818132	NM_152328.5(ADSS1):c.794-7C>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800436	NM_152328.5(ADSS1):c.585-10C>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785587	NM_152328.5(ADSS1):c.193-4972G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2762565	NM_152328.5(ADSS1):c.462A>T (p.Ala154=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2761240	NM_152328.5(ADSS1):c.1269C>G (p.Pro423=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758368	NM_152328.5(ADSS1):c.1172-16T>C	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753330	NM_152328.5(ADSS1):c.663C>G (p.Leu221=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748313	NM_152328.5(ADSS1):c.476+11C>A	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748227	NM_152328.5(ADSS1):c.193-13G>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727613	NM_152328.5(ADSS1):c.193-5059C>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2725585	NM_152328.5(ADSS1):c.949-2A>G	ADSS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2720549	NM_152328.5(ADSS1):c.1226G>A (p.Trp409Ter)	ADSS1 (W204* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2696999	NM_152328.5(ADSS1):c.1092G>A (p.Leu364=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	CDCA4, IGHA2 +32 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644619	NM_152328.5(ADSS1):c.78G>A (p.Ala26=)	ADSS1, LOC130056631	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617587	NM_152328.5(ADSS1):c.524C>G (p.Ala175Gly)	ADSS1 (A218G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613244	NM_152328.5(ADSS1):c.910C>A (p.Arg304Ser)	ADSS1 (R99S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605115	NM_152328.5(ADSS1):c.724G>A (p.Ala242Thr)	ADSS1 (A242T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602184	NM_152328.5(ADSS1):c.385A>T (p.Ile129Phe)	ADSS1 (I172F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2573873	NM_152328.5(ADSS1):c.247del (p.His83fs)	ADSS1 (H126fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2559218	NM_152328.5(ADSS1):c.626C>T (p.Thr209Ile)	ADSS1 (T209I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555115	NM_152328.5(ADSS1):c.193-5085G>T	ADSS1 (G15C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2536898	NM_152328.5(ADSS1):c.1282A>G (p.Asn428Asp)	ADSS1 (N223D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529677	NM_152328.5(ADSS1):c.400G>C (p.Ala134Pro)	ADSS1 (A134P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517495	NM_152328.5(ADSS1):c.1175A>T (p.Asn392Ile)	ADSS1 (N187I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478190	NM_152328.5(ADSS1):c.284T>C (p.Val95Ala)	ADSS1 (V138A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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