"Revvity Omics, Revvity"[submitter] AND "NDUFA12"[gene] - 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 2434081	NM_018838.5(NDUFA12):c.153CAA[1] (p.Asn52del)	NDUFA12 (N52del)	Microsatellite (inframe_deletion)	Mitochondrial complex 1 deficiency, nuclear type 23	GUncertain significance
Select item 1174935	NM_018838.5(NDUFA12):c.83dup (p.Arg29fs)	NDUFA12 (R29fs)	Duplication (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 23	GUncertain significance