"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACY1"[gen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 721267	NM_000666.3(ACY1):c.81C>G (p.Pro27=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant)	ACY1-related disorder +1 more	GBenign/Likely 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 1596621	NM_000666.3(ACY1):c.265-7C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 787168	NM_000666.3(ACY1):c.384G>T (p.Leu128=)	ABHD14A-ACY1, ACY1	Single nucleotide variant (synonymous variant +1 more)	ABHD14A-ACY1-related disorder +1 more	GLikely benign
Select item 256754	NM_000666.3(ACY1):c.437-20C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 256755	NM_000666.3(ACY1):c.527-17C>A	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided +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 +1 more	GBenign/Likely benign
Select item 256756	NM_000666.3(ACY1):c.657+15A>G	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	not provided +1 more	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 3046603	NM_000666.3(ACY1):c.1001+8C>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	ACY1-related disorder	GLikely benign
Select item 712435	NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys)	ABHD14A-ACY1, ACY1 (R314C +4 more)	Single nucleotide variant (missense variant)	ACY1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 726734	NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys)	ABHD14A-ACY1, ACY1 (R393C +4 more)	Single nucleotide variant (missense variant)	ABHD14A-ACY1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 18114	NM_000666.3(ACY1):c.1178G>A (p.Arg393His)	ABHD14A-ACY1, ACY1 (R393H +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign