"Ambry Genetics"[submitter] AND "LOC121392929"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1557303	NM_001286577.2(C2CD3):c.946C>G (p.Leu316Val)	C2CD3, LOC121392929 (L316V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3135879	NM_001286577.2(C2CD3):c.889G>C (p.Ala297Pro)	C2CD3, LOC121392929 (A297P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1421732	NM_001286577.2(C2CD3):c.869A>G (p.Gln290Arg)	C2CD3, LOC121392929 (Q290R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2546954	NM_001286577.2(C2CD3):c.844T>A (p.Ser282Thr)	C2CD3, LOC121392929 (S282T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371909	NM_001286577.2(C2CD3):c.832C>T (p.Arg278Trp)	C2CD3, LOC121392929 (R278W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1406880	NM_001286577.2(C2CD3):c.785A>T (p.Asn262Ile)	C2CD3, LOC121392929 (N262I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar