C1835922[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3236440	NM_000666.3(ACY1):c.977C>G (p.Ala326Gly)	ABHD14A-ACY1, ACY1 (A254G +4 more)	Single nucleotide variant (missense variant)	Aminoacylase 1 deficiency	GUncertain significance