"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FANCB"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1308291	NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)	FANCB	Indel (nonsense)	not provided +2 more	GUncertain significance
Select item 1652128	NM_001018113.3(FANCB):c.2385T>C (p.Ser795=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 696274	NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)	FANCB	Single nucleotide variant (synonymous variant)	FANCB-related condition +3 more	GBenign/Likely benign
Select item 1045558	NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)	FANCB (R613P)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1106657	NM_001018113.3(FANCB):c.1767A>G (p.Thr589=)	FANCB	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +3 more	GLikely benign
Select item 408160	NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)	FANCB (C574S)	Single nucleotide variant (missense variant)	Fanconi anemia +5 more	GConflicting classifications of pathogenicity
Select item 951089	NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)	FANCB (E573D)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1434707	NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)	FANCB (Y539H)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GUncertain significance
Select item 937196	NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)	FANCB (P536S)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
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 1366974	NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys)	FANCB (S496C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +2 more	GUncertain significance
Select item 526453	NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)	FANCB (S465P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +3 more	GBenign/Likely benign
Select item 1421028	NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)	FANCB (S439R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1047336	NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)	FANCB (R409Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +2 more	GUncertain significance
Select item 1356788	NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)	FANCB (D377G)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1024072	NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)	FANCB (D373G)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +3 more	GUncertain significance
Select item 281376	NM_001018113.3(FANCB):c.1105-26TATT[4]	FANCB	Microsatellite (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 700578	NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)	FANCB (S356L)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 1364951	NM_001018113.3(FANCB):c.910A>G (p.Ile304Val)	FANCB (I304V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 647502	NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)	FANCB (V300F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +2 more	GUncertain significance
Select item 1005025	NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)	FANCB (S267L)	Single nucleotide variant (missense variant)	FANCB-related condition +3 more	GUncertain significance
Select item 435138	NM_001018113.3(FANCB):c.706G>A (p.Val236Met)	FANCB (V236M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 408163	NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)	FANCB (E218Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1011422	NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro)	FANCB (Q198P)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GUncertain significance
Select item 701227	NM_001018113.3(FANCB):c.504C>G (p.Ser168=)	FANCB	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +2 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
Select item 1468716	NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys)	FANCB (N102K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 456180	NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)	FANCB (I67V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group B +2 more	GConflicting classifications of pathogenicity

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Items: 28