Related gene-specific medical variations for Gene (Select 100526760) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3130466	NM_015407.5(ABHD14A):c.79C>G (p.Gln27Glu)	ABHD14A, ABHD14A-ACY1 (Q27E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130460	NM_015407.5(ABHD14A):c.691C>T (p.Arg231Trp)	ABHD14A, ABHD14A-ACY1 (R231W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130456	NM_015407.5(ABHD14A):c.68C>G (p.Pro23Arg)	ABHD14A, ABHD14A-ACY1 +1 more (P23R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130453	NM_015407.5(ABHD14A):c.680G>A (p.Arg227Gln)	ABHD14A, ABHD14A-ACY1 (R227Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130445	NM_015407.5(ABHD14A):c.583G>C (p.Ala195Pro)	ABHD14A, ABHD14A-ACY1 (A195P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130431	NM_015407.5(ABHD14A):c.337C>G (p.Leu113Val)	ABHD14A, ABHD14A-ACY1 (S64R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130429	NM_015407.5(ABHD14A):c.333G>T (p.Glu111Asp)	ABHD14A, ABHD14A-ACY1 (S63I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130425	NM_015407.5(ABHD14A):c.29T>G (p.Phe10Cys)	ABHD14A, ABHD14A-ACY1 +1 more (F10C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130408	NM_015407.5(ABHD14A):c.124C>G (p.Leu42Val)	ABHD14A, ABHD14A-ACY1 (L42V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3046603	NM_000666.3(ACY1):c.1001+8C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	ACY1-related condition	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 condition	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 condition	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 condition	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 2621479	NM_015407.5(ABHD14A):c.161G>A (p.Gly54Asp)	ABHD14A, ABHD14A-ACY1 (A6T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2613717	NM_015407.5(ABHD14A):c.7G>T (p.Gly3Trp)	ABHD14A, ABHD14A-ACY1 +1 more (G3W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2613391	NM_015407.5(ABHD14A):c.713A>G (p.Asn238Ser)	ABHD14A, ABHD14A-ACY1 (N238S)	Single nucleotide variant (missense variant +1 more)	not specified	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 2495970	NM_015407.5(ABHD14A):c.115G>C (p.Gly39Arg)	ABHD14A, ABHD14A-ACY1 (G39R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 2478625	NM_015407.5(ABHD14A):c.376G>C (p.Ala126Pro)	ABHD14A, ABHD14A-ACY1 (A126P)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2460437	NM_015407.5(ABHD14A):c.734G>C (p.Arg245Pro)	ABHD14A, ABHD14A-ACY1 (R245P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455306	NM_015407.5(ABHD14A):c.467C>T (p.Ala156Val)	ABHD14A, ABHD14A-ACY1 (A156V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2416488	NM_000666.3(ACY1):c.750C>T (p.Ser250=)	ACY1, ABHD14A-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)	ABHD14A-ACY1, ACY1 (I318V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343682	NM_015407.5(ABHD14A):c.62T>G (p.Leu21Trp)	ABHD14A, ABHD14A-ACY1 +1 more (L21W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 2277668	NM_015407.5(ABHD14A):c.755A>G (p.Tyr252Cys)	ABHD14A, ABHD14A-ACY1 (Y252C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266483	NM_015407.5(ABHD14A):c.133A>G (p.Met45Val)	ABHD14A, ABHD14A-ACY1 (M45V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2262288	NM_015407.5(ABHD14A):c.200A>G (p.Asn67Ser)	ABHD14A, ABHD14A-ACY1 (N67S +1 more)	Single nucleotide variant (missense variant)	not specified	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 2233769	NM_015407.5(ABHD14A):c.700C>T (p.Arg234Cys)	ABHD14A, ABHD14A-ACY1 (R234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223672	NM_015407.5(ABHD14A):c.677C>T (p.Ala226Val)	ABHD14A, ABHD14A-ACY1 (A226V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217786	NM_015407.5(ABHD14A):c.270C>G (p.Asn90Lys)	ABHD14A, ABHD14A-ACY1 (T42S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214532	NM_015407.5(ABHD14A):c.379G>A (p.Val127Met)	ABHD14A, ABHD14A-ACY1 (V127M)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2210428	NM_015407.5(ABHD14A):c.446G>A (p.Arg149Gln)	ABHD14A, ABHD14A-ACY1 (R149Q)	Single nucleotide variant (missense variant +1 more)	not specified	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)	ACY1, ABHD14A-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)	ACY1, ABHD14A-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)	ABHD14A-ACY1, ACY1 (E173fs +3 more)	Microsatellite (intron 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)	ABHD14A-ACY1-related condition +1 more	GBenign/Likely benign

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