"Ambry Genetics"[submitter] AND "LOC126861129"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2476390	NM_198185.7(OVCH2):c.1591G>A (p.Gly531Arg)	LOC126861129, OVCH2 (G531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207481	NM_198185.7(OVCH2):c.1550C>A (p.Pro517His)	LOC126861129, OVCH2 (P517H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207480	NM_198185.7(OVCH2):c.1548C>A (p.Ser516Arg)	LOC126861129, OVCH2 (S516R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207479	NM_198185.7(OVCH2):c.1523A>G (p.Tyr508Cys)	LOC126861129, OVCH2 (Y508C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303735	NM_198185.7(OVCH2):c.1436T>C (p.Ile479Thr)	LOC126861129, OVCH2 (I479T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408458	NM_198185.7(OVCH2):c.1427G>A (p.Ser476Asn)	LOC126861129, OVCH2 (S476N)	Single nucleotide variant (missense variant)	not specified	GLikely benign

ClinVar