C1836861[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257480	NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu)	FANCI (P55L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +3 more	GBenign
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 221078	NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)	FANCI (E96K +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GBenign/Likely benign
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 317267	NM_001113378.2(FANCI):c.868G>A (p.Val290Met)	FANCI (V290M +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GBenign
Select item 317268	NM_001113378.2(FANCI):c.976-13A>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GConflicting classifications of pathogenicity
Select item 317271	NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile)	FANCI (V372I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GBenign
Select item 317273	NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 238307	NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)	FANCI (I404T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GBenign/Likely benign
Select item 317274	NM_001113378.2(FANCI):c.1294-8C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +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 414866	NM_001113378.2(FANCI):c.1699-7C>A	FANCI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 210985	NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	FANCI (L605F +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +4 more	GBenign/Likely benign
Select item 414868	NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)	FANCI (G655R +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 317284	NM_001113378.2(FANCI):c.2028C>T (p.Ala676=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GBenign
Select item 215783	NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys)	FANCI (Q686K +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 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 257483	NM_001113378.2(FANCI):c.2367G>T (p.Ala789=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +3 more	GBenign
Select item 210986	NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 215484	NM_001113378.2(FANCI):c.2883A>G (p.Gln961=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 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 414863	NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=)	FANCI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 238326	NM_001113378.2(FANCI):c.3592-8T>C	FANCI	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 257488	NM_001113378.2(FANCI):c.3651+19G>A	FANCI	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 317299	NM_001113378.2(FANCI):c.3816+15A>T	FANCI, POLG	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 317300	NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +2 more	GBenign/Likely benign
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

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Items: 30