"Revvity Omics, Revvity"[submitter] AND "FANCI"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441350	NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)	FANCI (I68M)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I	GUncertain significance
Select item 2441348	NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)	FANCI (K130T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 2441349	NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)	FANCI (Q258E +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 886652	NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)	FANCI (Q351L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 929726	NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)	FANCI (R521* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I +1 more	GPathogenic
Select item 1031096	NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)	FANCI (Q853* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I	GPathogenic/Likely pathogenic
Select item 317301	NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)	FANCI (R1299L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2435150	NM_002693.3(POLG):c.3701dup (p.Ser1235fs)	FANCI, POLG +1 more (S1235fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance