"Ambry Genetics"[submitter] AND "ABHD14A-ACY1"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3319022	NM_015407.5(ABHD14A):c.98C>T (p.Ser33Phe)	ABHD14A, ABHD14A-ACY1 (S33F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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)	Aminoacylase 1 deficiency +1 more	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 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 547895	NM_000666.3(ACY1):c.1001T>C (p.Met334Thr)	ABHD14A-ACY1, ACY1 (M334T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1384639	NM_000666.3(ACY1):c.1022A>G (p.Glu341Gly)	ABHD14A-ACY1, ACY1 (E431G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 18110	NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)	ABHD14A-ACY1, ACY1 (R353C +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 1422734	NM_000666.3(ACY1):c.1157G>A (p.Arg386His)	ABHD14A-ACY1, ACY1 (R314H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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

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Items: 60