ClinVar for Gene (Select 95) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265110	NM_000666.3(ACY1):c.1207G>A (p.Ala403Thr)	ABHD14A-ACY1, ACY1 (A331T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265101	NM_000666.3(ACY1):c.877T>C (p.Trp293Arg)	ABHD14A-ACY1, ACY1 (W221R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265091	NM_000666.3(ACY1):c.1094T>C (p.Met365Thr)	ABHD14A-ACY1, ACY1 (M293T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265082	NM_000666.3(ACY1):c.128G>A (p.Arg43His)	ABHD14A-ACY1, ACY1 (R133H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3265072	NM_000666.3(ACY1):c.778G>A (p.Val260Met)	ABHD14A-ACY1, ACY1 (V225M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265063	NM_000666.3(ACY1):c.1108G>T (p.Val370Leu)	ABHD14A-ACY1, ACY1 (V305L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3236441	NM_000666.3(ACY1):c.19G>A (p.Glu7Lys)	ABHD14A-ACY1, ACY1 (E7K +1 more)	Single nucleotide variant (missense variant)	Aminoacylase 1 deficiency	GUncertain significance
Select item 3236440	NM_000666.3(ACY1):c.977C>G (p.Ala326Gly)	ABHD14A-ACY1, ACY1 (A254G +4 more)	Single nucleotide variant (missense variant)	Aminoacylase 1 deficiency	GUncertain significance
Select item 3143213	NM_000666.3(ACY1):c.475G>A (p.Val159Met)	ABHD14A-ACY1, ACY1 (V159M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143174	NM_000666.3(ACY1):c.349G>A (p.Val117Ile)	ABHD14A-ACY1, ACY1 (V117I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3046603	NM_000666.3(ACY1):c.1001+8C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	ACY1-related disorder	GLikely benign
Select item 3039784	NM_000666.3(ACY1):c.242C>T (p.Thr81Met)	ABHD14A-ACY1, ACY1 (T171M +2 more)	Single nucleotide variant (missense variant)	ACY1-related disorder	GLikely benign
Select item 3033068	NM_000666.3(ACY1):c.521A>G (p.Asp174Gly)	ABHD14A-ACY1, ACY1 (D139G +2 more)	Single nucleotide variant (missense variant +1 more)	ACY1-related disorder	GUncertain significance
Select item 3033000	NM_000666.3(ACY1):c.517del (p.Leu173fs)	ABHD14A-ACY1, ACY1 (L138fs +2 more)	Deletion (frameshift variant +1 more)	ACY1-related disorder	GLikely pathogenic
Select item 2968156	NM_000666.3(ACY1):c.1179C>T (p.Arg393=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964630	NM_000666.3(ACY1):c.359+11T>C	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918997	NM_000666.3(ACY1):c.94+10C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2882530	NM_000666.3(ACY1):c.537T>C (p.Asn179=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2841639	NM_000666.3(ACY1):c.1002-13C>G	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2682251	NM_000666.3(ACY1):c.160-1G>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (splice acceptor variant +1 more)	Aminoacylase 1 deficiency	GLikely pathogenic
Select item 2615242	NM_000666.3(ACY1):c.482G>A (p.Arg161Gln)	ABHD14A-ACY1, ACY1 (R161Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606503	NM_000666.3(ACY1):c.455A>G (p.His152Arg)	ABHD14A-ACY1, ACY1 (H152R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2574268	NM_000666.3(ACY1):c.626G>A (p.Arg209His)	ABHD14A-ACY1, ACY1 (R137H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570165	NM_000666.3(ACY1):c.796C>A (p.Pro266Thr)	ABHD14A-ACY1, ACY1 (P231T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559138	NM_000666.3(ACY1):c.70A>G (p.Thr24Ala)	ABHD14A-ACY1, ACY1 (T114A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555552	NM_000666.3(ACY1):c.523G>A (p.Glu175Lys)	ABHD14A-ACY1, ACY1 (E175K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505614	NM_000666.3(ACY1):c.262A>C (p.Lys88Gln)	ABHD14A-ACY1, ACY1 (K178Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485521	NM_000666.3(ACY1):c.1169T>A (p.Ile390Lys)	ABHD14A-ACY1, ACY1 (I318K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426146	NC_000003.11:g.(?_52018081)_(52188388_?)del	ACY1, DUSP7 +2 more	Deletion	not provided	GPathogenic
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 2423345	NC_000003.11:g.(?_52010900)_(52019232_?)del	ABHD14A, ACY1	Deletion	not provided	GUncertain significance
Select item 2423344	NC_000003.11:g.(?_52018081)_(52023091_?)dup	ACY1	Duplication	not provided	GUncertain significance
Select item 2416488	NM_000666.3(ACY1):c.750C>T (p.Ser250=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2406477	NM_000666.3(ACY1):c.689G>A (p.Arg230Gln)	ABHD14A-ACY1, ACY1 (R158Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403982	NM_000666.3(ACY1):c.935C>T (p.Pro312Leu)	ABHD14A-ACY1, ACY1 (P247L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356371	NM_000666.3(ACY1):c.1168A>G (p.Ile390Val)	ACY1, ABHD14A-ACY1 (I318V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326632	NM_000666.3(ACY1):c.299A>G (p.Lys100Arg)	ABHD14A-ACY1, ACY1 (K65R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290133	NM_000666.3(ACY1):c.423G>C (p.Met141Ile)	ABHD14A-ACY1, ACY1 (M141I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259561	NM_000666.3(ACY1):c.836C>T (p.Pro279Leu)	ABHD14A-ACY1, ACY1 (P207L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245434	NM_000666.3(ACY1):c.307G>C (p.Glu103Gln)	ABHD14A-ACY1, ACY1 (E68Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237317	NM_000666.3(ACY1):c.360G>T (p.Gln120His)	ABHD14A-ACY1, ACY1 (Q85H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208141	NM_000666.3(ACY1):c.466G>A (p.Glu156Lys)	ABHD14A-ACY1, ACY1 (E156K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208140	NM_000666.3(ACY1):c.465G>A (p.Met155Ile)	ABHD14A-ACY1, ACY1 (M155I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192322	NM_000666.3(ACY1):c.741C>T (p.Ser247=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2176901	NM_000666.3(ACY1):c.495C>T (p.His165=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2170512	NM_000666.3(ACY1):c.708-7A>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157134	NM_000666.3(ACY1):c.895G>A (p.Glu299Lys)	ABHD14A-ACY1, ACY1 (E234K +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2123553	NM_000666.3(ACY1):c.1059C>T (p.Arg353=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102784	NM_000666.3(ACY1):c.50G>T (p.Arg17Leu)	ABHD14A-ACY1, ACY1 (R107L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083989	NM_000666.3(ACY1):c.624A>G (p.Ser208=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075489	NM_000666.3(ACY1):c.871C>G (p.Gln291Glu)	ABHD14A-ACY1, ACY1 (Q256E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060336	NM_000666.3(ACY1):c.986G>A (p.Arg329Gln)	ABHD14A-ACY1, ACY1 (R257Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049387	NM_000666.3(ACY1):c.707+15G>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027709	NM_000666.3(ACY1):c.309G>A (p.Glu103=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018656	NM_000666.3(ACY1):c.36G>C (p.Ser12=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008461	NM_000666.3(ACY1):c.1217G>T (p.Ser406Ile)	ABHD14A-ACY1, ACY1 (S334I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993283	NM_000666.3(ACY1):c.919C>T (p.Gln307Ter)	ABHD14A-ACY1, ACY1 (Q235* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1984849	NM_000666.3(ACY1):c.837G>A (p.Pro279=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1982042	NM_000666.3(ACY1):c.1023dup (p.Ile342fs)	ABHD14A-ACY1, ACY1 (I432fs +4 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1972793	NM_000666.3(ACY1):c.961A>G (p.Asn321Asp)	ABHD14A-ACY1, ACY1 (N411D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947781	NM_000666.3(ACY1):c.95-11T>G	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1947128	NM_000666.3(ACY1):c.853-7C>G	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945287	NM_000666.3(ACY1):c.571C>T (p.Arg191Trp)	ABHD14A-ACY1, ACY1 (R119W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940049	NM_000666.3(ACY1):c.1049G>A (p.Arg350His)	ABHD14A-ACY1, ACY1 (R350H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938816	NM_000666.3(ACY1):c.922-5C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937256	NM_000666.3(ACY1):c.106G>T (p.Ala36Ser)	ABHD14A-ACY1, ACY1 (A126S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1933666	NM_000666.3(ACY1):c.839A>C (p.Asp280Ala)	ABHD14A-ACY1, ACY1 (D370A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1933494	NM_000666.3(ACY1):c.1190C>T (p.Ala397Val)	ABHD14A-ACY1, ACY1 (A325V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931619	NM_000666.3(ACY1):c.95-9_95-8del	ABHD14A-ACY1, ACY1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1925591	NM_000666.3(ACY1):c.1041T>C (p.Thr347=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925348	NM_000666.3(ACY1):c.470T>C (p.Leu157Pro)	ABHD14A-ACY1, ACY1 (L122P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924004	NM_000666.3(ACY1):c.583+14T>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923982	NM_000666.3(ACY1):c.991T>C (p.Cys331Arg)	ABHD14A-ACY1, ACY1 (C331R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920249	NM_000666.3(ACY1):c.853-16G>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919026	NM_000666.3(ACY1):c.1063-9C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915481	NM_000666.3(ACY1):c.584-16C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911182	NM_000666.3(ACY1):c.280G>A (p.Asp94Asn)	ABHD14A-ACY1, ACY1 (D184N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901351	NM_000666.3(ACY1):c.369dup (p.Ala124fs)	ABHD14A-ACY1, ACY1 (A89fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1901207	NM_000666.3(ACY1):c.657+4C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1804212	NM_000666.3(ACY1):c.481C>G (p.Arg161Gly)	ABHD14A-ACY1, ACY1 (R126G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700277	NM_000666.3(ACY1):c.353G>C (p.Ser118Thr)	ABHD14A-ACY1, ACY1 (S118T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700275	NM_000666.3(ACY1):c.1090C>T (p.Pro364Ser)	ABHD14A-ACY1, ACY1 (P292S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696695	NM_000666.3(ACY1):c.734_735del (p.Glu245fs)	ACY1, ABHD14A-ACY1 (E173fs +3 more)	Microsatellite (frameshift variant +1 more)	Aminoacylase 1 deficiency	GLikely pathogenic
Select item 1691557	NM_000666.3(ACY1):c.325A>G (p.Arg109Gly)	ABHD14A-ACY1, ACY1 (R109G +2 more)	Single nucleotide variant (missense variant +1 more)	Aminoacylase 1 deficiency	GUncertain significance
Select item 1691556	NM_000666.3(ACY1):c.1058G>A (p.Arg353His)	ABHD14A-ACY1, ACY1 (R281H +4 more)	Single nucleotide variant (missense variant)	Aminoacylase 1 deficiency	GUncertain significance
Select item 1653932	NM_000666.3(ACY1):c.1119C>T (p.His373=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596621	NM_000666.3(ACY1):c.265-7C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1593281	NM_000666.3(ACY1):c.707+10C>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581391	NM_000666.3(ACY1):c.777C>T (p.Gly259=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1580225	NM_000666.3(ACY1):c.853-17C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580220	NM_000666.3(ACY1):c.657+12C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1578283	NM_000666.3(ACY1):c.1107T>C (p.Pro369=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556173	NM_000666.3(ACY1):c.187T>C (p.Leu63=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1547268	NM_000666.3(ACY1):c.708-17C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1544752	NM_000666.3(ACY1):c.318C>T (p.Ile106=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1518270	NM_000666.3(ACY1):c.1047C>A (p.Asn349Lys)	ABHD14A-ACY1, ACY1 (N439K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516246	NM_000666.3(ACY1):c.599_601del (p.Ser200del)	ABHD14A-ACY1, ACY1 (S165del +3 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1508798	NM_000666.3(ACY1):c.921+4T>G	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1496425	NM_000666.3(ACY1):c.49C>T (p.Arg17Cys)	ABHD14A-ACY1, ACY1 (R17C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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