C3469521[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974064	NM_000135.4(FANCA):c.4010+2T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 430085	NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	FANCA, ZNF276 (P1324L)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 550055	NM_000135.4(FANCA):c.2853-15_2856del	FANCA	Deletion (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1705538	NM_000135.4(FANCA):c.2852+1del	FANCA	Deletion (splice donor variant)	Fanconi anemia complementation group A	GPathogenic
Select item 983788	NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)	FANCA (C833*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic/Likely pathogenic
Select item 2444131	NM_000135.4(FANCA):c.2150dup (p.Met717fs)	FANCA (M717fs)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 208580	NM_000135.4(FANCA):c.987_990del (p.His330fs)	FANCA (H330fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic

ClinVar