ClinVar (all) for Orgtrack (Select 505981) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632556	NG_011706.1:g.10587_63081del	FANCA, LOC130059837 +1 more	Deletion	Fanconi anemia	GPathogenic
Select item 632555	NG_011706.1:g.13291_71928del	FANCA, LOC130059837 +1 more	Deletion	Fanconi anemia	GPathogenic
Select item 632554	NM_000135.4(FANCA):c.3241_3626+1del	LOC132090450, FANCA	Deletion (splice acceptor variant +1 more)	Fanconi anemia	GPathogenic
Select item 632553	NM_000135.4(FANCA):c.1472_1566+1del	FANCA	Deletion (splice acceptor variant +1 more)	Fanconi anemia	GPathogenic
Select item 369689	NM_000132.4(F8):c.3091_3094del (p.Lys1031fs)	F8 (K1031fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 369688	NM_000132.4(F8):c.2734_2735del (p.Asn912fs)	F8 (N912fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic

ClinVar