ClinVar for Gene (Select 85300) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320267	NM_033064.5(ATCAY):c.230G>C (p.Gly77Ala)	ATCAY (G77A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320255	NM_033064.5(ATCAY):c.496A>G (p.Ile166Val)	ATCAY (I166V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320234	NM_033064.5(ATCAY):c.119C>T (p.Pro40Leu)	ATCAY (P40L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320217	NM_033064.5(ATCAY):c.152T>C (p.Leu51Pro)	ATCAY (L51P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	GIPC3, LMNB2 +42 more	Deletion	RASopathy	GUncertain significance
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
Select item 3130771	NM_033064.5(ATCAY):c.992G>A (p.Arg331Lys)	ATCAY (R331K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130770	NM_033064.5(ATCAY):c.776G>A (p.Arg259Gln)	ATCAY (R259Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130769	NM_033064.5(ATCAY):c.757T>A (p.Cys253Ser)	ATCAY (C253S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130768	NM_033064.5(ATCAY):c.692T>C (p.Met231Thr)	ATCAY (M231T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130766	NM_033064.5(ATCAY):c.59A>T (p.Gln20Leu)	ATCAY (Q20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130765	NM_033064.5(ATCAY):c.451G>A (p.Gly151Arg)	ATCAY (G151R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130763	NM_033064.5(ATCAY):c.1016C>T (p.Pro339Leu)	ATCAY (P339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 3062379	GRCh37/hg19 19p13.3(chr19:3794098-4036681)x1	ATCAY, DAPK3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3047569	NM_033064.5(ATCAY):c.360C>T (p.Asp120=)	ATCAY	Single nucleotide variant (synonymous variant)	ATCAY-related disorder	GLikely benign
Select item 2761282	NM_033064.5(ATCAY):c.744C>T (p.Gly248=)	ATCAY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2649019	NM_033064.5(ATCAY):c.705G>C (p.Leu235=)	ATCAY	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2649018	NM_033064.5(ATCAY):c.394G>A (p.Gly132Arg)	ATCAY (G132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649017	NM_033064.5(ATCAY):c.282C>T (p.Asn94=)	ATCAY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619161	NM_033064.5(ATCAY):c.859T>G (p.Phe287Val)	ATCAY (F287V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614447	NM_033064.5(ATCAY):c.11C>T (p.Thr4Ile)	ATCAY (T4I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593167	NM_033064.5(ATCAY):c.556G>A (p.Glu186Lys)	ATCAY (E186K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562630	NM_033064.5(ATCAY):c.577G>A (p.Val193Ile)	ATCAY (V193I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562484	NM_033064.5(ATCAY):c.464G>A (p.Arg155Gln)	ATCAY (R155Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549653	NM_033064.5(ATCAY):c.898C>T (p.His300Tyr)	ATCAY (H300Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491664	NM_033064.5(ATCAY):c.361G>A (p.Asp121Asn)	ATCAY (D121N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472718	NM_033064.5(ATCAY):c.742G>A (p.Gly248Ser)	ATCAY (G248S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472611	NM_033064.5(ATCAY):c.703C>A (p.Leu235Met)	ATCAY (L235M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465110	NM_033064.5(ATCAY):c.616G>A (p.Asp206Asn)	ATCAY (D206N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459935	NM_033064.5(ATCAY):c.374C>T (p.Ala125Val)	ATCAY (A125V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439309	NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)	ATCAY (E348G)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 2439308	NM_033064.5(ATCAY):c.-41-1022G>A	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ARID3A, ARRDC5 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2412765	NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)	ATCAY (Y184*)	Single nucleotide variant (nonsense)	Cayman type cerebellar ataxia	GUncertain significance
Select item 2411911	NM_033064.5(ATCAY):c.560G>C (p.Gly187Ala)	ATCAY (G187A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397462	NM_033064.5(ATCAY):c.295G>A (p.Glu99Lys)	ATCAY (E99K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343744	NM_033064.5(ATCAY):c.445G>A (p.Ala149Thr)	ATCAY (A149T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328327	NM_033064.5(ATCAY):c.397G>A (p.Asp133Asn)	ATCAY (D133N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298463	NM_033064.5(ATCAY):c.709G>A (p.Gly237Ser)	ATCAY (G237S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293427	NM_033064.5(ATCAY):c.97G>A (p.Gly33Arg)	ATCAY (G33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269827	NM_033064.5(ATCAY):c.571A>G (p.Ile191Val)	ATCAY (I191V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266362	NM_033064.5(ATCAY):c.613C>T (p.Pro205Ser)	ATCAY (P205S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262604	NM_033064.5(ATCAY):c.971A>G (p.Glu324Gly)	ATCAY (E324G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212863	NM_033064.5(ATCAY):c.583G>A (p.Ala195Thr)	ATCAY (A195T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212431	NM_033064.5(ATCAY):c.532G>A (p.Val178Ile)	ATCAY (V178I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879412	NM_033064.5(ATCAY):c.647+17G>A	ATCAY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1675714	NM_033064.5(ATCAY):c.95C>T (p.Thr32Met)	ATCAY (T32M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340292	GRCh37/hg19 19p13.3(chr19:3788725-4225547)x1	ANKRD24, ATCAY +10 more	Copy number loss	not provided	GUncertain significance
Select item 1338348	NM_033064.5(ATCAY):c.965+3G>T	ATCAY	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1338347	NM_033064.5(ATCAY):c.903C>G (p.Ser301Arg)	ATCAY (S301R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1319958	NM_033064.5(ATCAY):c.602_608del (p.Asp201fs)	ATCAY (D201fs)	Deletion (frameshift variant)	Cayman type cerebellar ataxia	GPathogenic
Select item 1192340	NM_033064.5(ATCAY):c.545-65T>C	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GBenign
Select item 1029011	NM_033064.5(ATCAY):c.370G>A (p.Val124Met)	ATCAY (V124M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 894441	NM_033064.5(ATCAY):c.*3319C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894440	NM_033064.5(ATCAY):c.*3202G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894439	NM_033064.5(ATCAY):c.*3136A>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894438	NM_033064.5(ATCAY):c.*3124C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894370	NM_033064.5(ATCAY):c.*612C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894369	NM_033064.5(ATCAY):c.*608G>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894368	NM_033064.5(ATCAY):c.*599T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894367	NM_033064.5(ATCAY):c.*512G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894335	NM_033064.5(ATCAY):c.721C>T (p.Arg241Trp)	ATCAY (R241W)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894334	NM_033064.5(ATCAY):c.647+15G>C	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894333	NM_033064.5(ATCAY):c.647+15G>A	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894332	NM_033064.5(ATCAY):c.647+14C>T	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894041	NM_033064.5(ATCAY):c.*3018C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894040	NM_033064.5(ATCAY):c.*2692G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GLikely benign
Select item 894039	NM_033064.5(ATCAY):c.*2514A>G	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 894008	NM_033064.5(ATCAY):c.*1322T>G	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894007	NM_033064.5(ATCAY):c.*1276G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894006	NM_033064.5(ATCAY):c.*1217A>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894005	NM_033064.5(ATCAY):c.*1190G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 893974	NM_033064.5(ATCAY):c.*507G>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 893973	NM_033064.5(ATCAY):c.*430G>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893972	NM_033064.5(ATCAY):c.*420C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893971	NM_033064.5(ATCAY):c.*391C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893707	NM_033064.5(ATCAY):c.*309C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GLikely benign
Select item 893706	NM_033064.5(ATCAY):c.*212C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893664	NM_033064.5(ATCAY):c.420C>T (p.Asp140=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893663	NM_033064.5(ATCAY):c.402C>T (p.Ser134=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893662	NM_033064.5(ATCAY):c.379G>A (p.Ala127Thr)	ATCAY (A127T)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893191	NM_033064.5(ATCAY):c.*2497C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 893190	NM_033064.5(ATCAY):c.*2395G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893189	NM_033064.5(ATCAY):c.*2394C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 893188	NM_033064.5(ATCAY):c.*2357G>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893162	NM_033064.5(ATCAY):c.*1154G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893161	NM_033064.5(ATCAY):c.*1051T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893160	NM_033064.5(ATCAY):c.*958G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893010	NM_033064.5(ATCAY):c.*3415G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893009	NM_033064.5(ATCAY):c.*3404C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893008	NM_033064.5(ATCAY):c.*3377G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893007	NM_033064.5(ATCAY):c.*3332C>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia +1 more	GUncertain significance
Select item 892971	NM_033064.5(ATCAY):c.*2289C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 892970	NM_033064.5(ATCAY):c.*2282C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 892969	NM_033064.5(ATCAY):c.*1978G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 892968	NM_033064.5(ATCAY):c.*1801T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance

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