ClinVar for MedGen (Select 1673905) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664735	NM_001113378.2(FANCI):c.3355G>T (p.Ala1119Ser)	FANCI (A1026S +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 62	GUncertain significance
Select item 2431903	NM_004706.4(ARHGEF1):c.424G>A (p.Val142Met)	ARHGEF1 (V109M +2 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 62	GUncertain significance
Select item 2431777	NM_004706.4(ARHGEF1):c.130A>G (p.Ser44Gly)	ARHGEF1 (S44G +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 62	GUncertain significance
Select item 1370813	NM_004706.4(ARHGEF1):c.2149G>A (p.Glu717Lys)	ARHGEF1 (E684K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 62 +1 more	GUncertain significance
Select item 810949	NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)	ANK1 (R385C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 62 +4 more	GConflicting classifications of pathogenicity
Select item 633650	NM_004706.4(ARHGEF1):c.1624-1G>T	ARHGEF1	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 62	GPathogenic
Select item 633649	NM_004706.4(ARHGEF1):c.853C>T (p.Arg285Ter)	ARHGEF1 (R300* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 62	GPathogenic
Select item 317294	NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)	FANCI (I1134V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 62 +2 more	GUncertain significance

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