C1835922[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1029932	NM_000666.3(ACY1):c.921+21A>T	ABHD14A-ACY1, ACY1	Single nucleotide variant (intron variant)	Aminoacylase 1 deficiency	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 726734	NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys)	ABHD14A-ACY1, ACY1 (R393C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1029929	NM_000666.3(ACY1):c.1201G>T (p.Val401Leu)	ABHD14A-ACY1, ACY1 (V336L +4 more)	Single nucleotide variant (missense variant)	Aminoacylase 1 deficiency	GUncertain significance
Select item 1177326	NM_001101.5(ACTB):c.587G>T (p.Arg196Leu)	ACTB (R196L)	Single nucleotide variant (missense variant)	ACTB-related BAFopathy +1 more	GLikely pathogenic

ClinVar