"Ambry Genetics"[submitter] AND "LOC112529895"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2233257	NM_004589.4(SCO1):c.31G>A (p.Val11Ile)	SCO1, LOC112529895 (V11I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230204	NM_004589.4(SCO1):c.28C>G (p.Arg10Gly)	LOC112529895, SCO1 (R10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 215119	NM_004589.4(SCO1):c.26G>T (p.Gly9Val)	SCO1, LOC112529895 (G9V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2542718	NM_004589.4(SCO1):c.13G>A (p.Val5Ile)	LOC112529895, SCO1 (V5I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045643	NM_004589.4(SCO1):c.10C>G (p.Leu4Val)	LOC112529895, SCO1 (L4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 890748	NM_004589.4(SCO1):c.2T>C (p.Met1Thr)	LOC112529895, SCO1 (M1T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance

ClinVar