"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "FA - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456182	NM_001018113.3(FANCB):c.2165+10A>T	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GBenign
Select item 246612	NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)	FANCB (G666S)	Single nucleotide variant (missense variant)	FANCB-related condition +4 more	GConflicting classifications of pathogenicity
Select item 246611	NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)	FANCB (F590S)	Single nucleotide variant (missense variant)	FANCB-related condition +7 more	GConflicting classifications of pathogenicity
Select item 368024	NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)	FANCB (K498N)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +4 more	GConflicting classifications of pathogenicity
Select item 93467	NM_001018113.3(FANCB):c.1327-10T>C	FANCB	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 257062	NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)	FANCB (G335E)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 368032	NM_001018113.3(FANCB):c.402A>G (p.Leu134=)	FANCB	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +4 more	GBenign/Likely benign
Select item 456185	NM_001018113.3(FANCB):c.330A>C (p.Leu110=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group B +2 more	GBenign/Likely benign