"GeneDx"[submitter] AND "ACY1"[gene] - ClinVar - NCBI

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Items: 13

	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 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 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 256754	NM_000666.3(ACY1):c.437-20C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 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 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 488676	NM_000666.3(ACY1):c.1063-1G>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (splice acceptor variant)	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 493363	NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp)	ABHD14A-ACY1, ACY1 (R378W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 809490	NM_000666.3(ACY1):c.1133G>A (p.Arg378Gln)	ACY1, ABHD14A-ACY1 (R468Q +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance