ACY1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
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 1029930	NM_000666.3(ACY1):c.19G>C (p.Glu7Gln)	ABHD14A-ACY1, ACY1 (E7Q +1 more)	Single nucleotide variant (missense variant)	Aminoacylase 1 deficiency	GUncertain significance
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 731084	NM_000666.3(ACY1):c.48C>T (p.Phe16=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 1428032	NM_000666.3(ACY1):c.58C>G (p.Leu20Val)	ABHD14A-ACY1, ACY1 (L20V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 773443	NM_000666.3(ACY1):c.69C>G (p.Arg23=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 721267	NM_000666.3(ACY1):c.81C>G (p.Pro27=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 1185137	NM_000666.3(ACY1):c.94+11G>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	Aminoacylase 1 deficiency	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 1931619	NM_000666.3(ACY1):c.95-9_95-8del	ABHD14A-ACY1, ACY1	Microsatellite (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 1369356	NM_000666.3(ACY1):c.127C>T (p.Arg43Cys)	ABHD14A-ACY1, ACY1 (R133C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 737967	NM_000666.3(ACY1):c.135G>C (p.Leu45=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 727628	NM_000666.3(ACY1):c.183C>T (p.Thr61=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 975314	NM_000666.3(ACY1):c.184G>C (p.Val62Leu)	ABHD14A-ACY1, ACY1 (V152L +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	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 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 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 1596621	NM_000666.3(ACY1):c.265-7C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 2027709	NM_000666.3(ACY1):c.309G>A (p.Glu103=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471499	NM_000666.3(ACY1):c.312C>G (p.Gly104=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 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 1163248	NM_000666.3(ACY1):c.332C>T (p.Ala111Val)	ABHD14A-ACY1, ACY1 (A111V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 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 2964630	NM_000666.3(ACY1):c.359+11T>C	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 18112	NM_000666.3(ACY1):c.360-1G>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (splice acceptor variant +1 more)	Aminoacylase 1 deficiency	GPathogenic
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 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 787168	NM_000666.3(ACY1):c.384G>T (p.Leu128=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1025834	NM_000666.3(ACY1):c.400C>T (p.Arg134Trp)	ABHD14A-ACY1, ACY1 (R134W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1468500	NM_000666.3(ACY1):c.415A>G (p.Ile139Val)	ABHD14A-ACY1, ACY1 (I104V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 809489	NM_000666.3(ACY1):c.436G>T (p.Asp146Tyr)	ABHD14A-ACY1, ACY1 (D111Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 256754	NM_000666.3(ACY1):c.437-20C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1029931	NM_000666.3(ACY1):c.437-19G>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	Aminoacylase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 975315	NM_000666.3(ACY1):c.442G>A (p.Glu148Lys)	ABHD14A-ACY1, ACY1 (E113K +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
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 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 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 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 493362	NM_000666.3(ACY1):c.474C>T (p.Phe158=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1335986	NM_000666.3(ACY1):c.480_493dup (p.His165fs)	ABHD14A-ACY1, ACY1 (H130fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 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 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 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 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 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 256755	NM_000666.3(ACY1):c.527-17C>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 377348	NM_000666.3(ACY1):c.536A>G (p.Asn179Ser)	ABHD14A-ACY1, ACY1 (N179S +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 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 800812	NM_000666.3(ACY1):c.575dup (p.Ser192fs)	ABHD14A-ACY1, ACY1 (S282fs +3 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1915481	NM_000666.3(ACY1):c.584-16C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 18113	NM_000666.3(ACY1):c.589C>T (p.Arg197Trp)	ABHD14A-ACY1, ACY1 (R197W +3 more)	Single nucleotide variant (missense variant)	Aminoacylase 1 deficiency	GPathogenic
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 743405	NM_000666.3(ACY1):c.597C>A (p.Thr199=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 374658	NM_000666.3(ACY1):c.625C>T (p.Arg209Cys)	ABHD14A-ACY1, ACY1 (R209C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 1901207	NM_000666.3(ACY1):c.657+4C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1580220	NM_000666.3(ACY1):c.657+12C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256756	NM_000666.3(ACY1):c.657+15A>G	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 746661	NM_000666.3(ACY1):c.658-4A>C	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	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 748871	NM_000666.3(ACY1):c.693G>A (p.Glu231=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 18111	NM_000666.3(ACY1):c.699A>C (p.Glu233Asp)	ABHD14A-ACY1, ACY1 (E233D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
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 2049387	NM_000666.3(ACY1):c.707+15G>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	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 256757	NM_000666.3(ACY1):c.708-9A>G	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 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 1465618	NM_000666.3(ACY1):c.732A>G (p.Lys244=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 730858	NM_000666.3(ACY1):c.805A>G (p.Met269Val)	ABHD14A-ACY1, ACY1 (M269V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 193816	NM_000666.3(ACY1):c.811G>A (p.Ala271Thr)	ABHD14A-ACY1, ACY1 (A271T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 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 1580225	NM_000666.3(ACY1):c.853-17C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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