"Eurofins Ntd Llc (ga)"[submitter] AND "FANCA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552509	NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)	FANCA, ZNF276 (T1375fs)	Microsatellite (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 498550	NM_000135.4(FANCA):c.2915G>C (p.Gly972Ala)	FANCA (G972A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265136	NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	FANCA (C625S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 134244	NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	FANCA (G501S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 596588	NM_000135.4(FANCA):c.793-1G>A	FANCA	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 498553	NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)	FANCA (E260K +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity

ClinVar