"GeneDx"[submitter] AND "LOC130067544"[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 2507038	NM_001098.3(ACO2):c.1672G>A (p.Val558Met)	ACO2, LOC130067544 (V558M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252794	NM_001098.3(ACO2):c.1714G>A (p.Asp572Asn)	ACO2, LOC130067544 (D572N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance