"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AOPEP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163499	NM_000136.3(FANCC):c.1329+1149A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 550444	NM_000136.3(FANCC):c.1329+238C>T	AOPEP, FANCC (R484*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 182486	NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)	AOPEP, FANCC (R439K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2683052	NM_000136.3(FANCC):c.1038A>C (p.Pro346=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2683053	NM_000136.3(FANCC):c.951G>A (p.Val317=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 219908	NM_000136.3(FANCC):c.733C>T (p.Arg245Trp)	AOPEP, FANCC (R245W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +3 more	GUncertain significance

ClinVar