"Genome-Nilou Lab"[submitter] AND "FANCI"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257484	NM_001113378.2(FANCI):c.257C>T (p.Ala86Val)	FANCI (A86V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +3 more	GBenign
Select item 257486	NM_001113378.2(FANCI):c.288+37G>A	FANCI	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 257490	NM_001113378.2(FANCI):c.545+19C>T	FANCI	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 257491	NM_001113378.2(FANCI):c.545+30G>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +2 more	GBenign
Select item 257481	NM_001113378.2(FANCI):c.1698+15C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +3 more	GBenign
Select item 257482	NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser)	FANCI (C742S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GBenign
Select item 257485	NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu)	FANCI (I877L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 257487	NM_001113378.2(FANCI):c.3006+15A>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +3 more	GBenign
Select item 257489	NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)	FANCI, POLG	Single nucleotide variant (synonymous variant)	Fanconi anemia +4 more	GBenign/Likely benign
Select item 138754	NM_002693.3(POLG):c.3105-11T>C	FANCI, POLG	Single nucleotide variant (intron variant)	Fanconi anemia +8 more	GBenign/Likely benign