"Institute of Human Genetics, University Hospital Muenster"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691557	NM_000666.3(ACY1):c.325A>G (p.Arg109Gly)	ABHD14A-ACY1, ACY1 (R109G +2 more)	Single nucleotide variant (missense variant +1 more)	Aminoacylase 1 deficiency	GUncertain significance
Select item 1691556	NM_000666.3(ACY1):c.1058G>A (p.Arg353His)	ACY1, ABHD14A-ACY1 (R281H +4 more)	Single nucleotide variant (missense variant)	Aminoacylase 1 deficiency	GUncertain significance