"Sema4, Sema4"[submitter] AND "FANCB"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1692536	NM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys)	FANCB (E844K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 414827	NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met)	FANCB (T826M)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +4 more	GBenign/Likely benign
Select item 246615	NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)	FANCB (R818G)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +5 more	GBenign/Likely benign
Select item 517761	NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys)	FANCB (Y812C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 526422	NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala)	FANCB (E807A)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 526472	NM_001018113.3(FANCB):c.2394C>T (p.Val798=)	FANCB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1432074	NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly)	FANCB (S791G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 572694	NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)	FANCB (E781G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 456183	NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)	FANCB (A776V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +2 more	GConflicting classifications of pathogenicity
Select item 435139	NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys)	FANCB (F743C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 246613	NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)	FANCB (P697L)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 954557	NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn)	FANCB (K673N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 696274	NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)	FANCB	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +3 more	GBenign/Likely benign
Select item 1127831	NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu)	FANCB (K638E)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 281375	NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)	FANCB (T553M)	Single nucleotide variant (missense variant)	FANCB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1692533	NM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln)	FANCB (R519Q)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 1692532	NM_001018113.3(FANCB):c.1552T>A (p.Phe518Ile)	FANCB (F518I)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 1692531	NM_001018113.3(FANCB):c.1496T>C (p.Leu499Pro)	FANCB (L499P)	Single nucleotide variant (missense variant)	Fanconi anemia	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 1692530	NM_001018113.3(FANCB):c.1383T>C (p.Asp461=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 198442	NM_001018113.3(FANCB):c.1371C>T (p.Val457=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group B +3 more	GConflicting classifications of pathogenicity
Select item 456176	NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr)	FANCB (C450Y)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely benign
Select item 1169946	NM_001018113.3(FANCB):c.1327-12dup	FANCB	Duplication (intron variant)	Fanconi anemia +1 more	GBenign/Likely benign
Select item 93468	NM_001018113.3(FANCB):c.1327-3del	FANCB	Deletion (intron variant)	Fanconi anemia +5 more	GBenign
Select item 1692529	NM_001018113.3(FANCB):c.1327-11_1327-10insC	FANCB	Insertion (intron variant)	Fanconi anemia	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 1319858	NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp)	FANCB (R409W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 913944	NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 197705	NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu)	FANCB (F380L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +5 more	GConflicting classifications of pathogenicity
Select item 167060	NM_001018113.3(FANCB):c.1105-26TATT[7]	FANCB	Microsatellite (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 281376	NM_001018113.3(FANCB):c.1105-26TATT[4]	FANCB	Microsatellite (intron variant)	VACTERL association, X-linked, with or without hydrocephalus +5 more	GBenign/Likely benign
Select item 1692527	NM_001018113.3(FANCB):c.1105-4T>C	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 456175	NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met)	FANCB (T360M)	Single nucleotide variant (missense variant)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 705749	NM_001018113.3(FANCB):c.1077A>T (p.Ile359=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely 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 257062	NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)	FANCB (G335E)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 197175	NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)	FANCB (I330T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1512053	NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn)	FANCB (K324N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 368030	NM_001018113.3(FANCB):c.869T>C (p.Met290Thr)	FANCB (M290T)	Single nucleotide variant (missense variant)	FANCB-related disorder +3 more	GBenign/Likely benign
Select item 1045890	NM_001018113.3(FANCB):c.679T>C (p.Tyr227His)	FANCB (Y227H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 954753	NM_001018113.3(FANCB):c.508A>G (p.Ile170Val)	FANCB (I170V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 912474	NM_001018113.3(FANCB):c.362G>A (p.Arg121His)	FANCB (R121H)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 526482	NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg)	FANCB (G88R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GBenign/Likely benign
Select item 1588503	NM_001018113.3(FANCB):c.162A>G (p.Thr54=)	FANCB	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 435140	NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)	FANCB (L43I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1692528	NM_001018113.3(FANCB):c.124A>G (p.Ile42Val)	FANCB (I42V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 368035	NM_001018113.3(FANCB):c.69T>C (p.Leu23=)	FANCB	Single nucleotide variant (synonymous variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +3 more	GBenign/Likely benign
Select item 456186	NM_001018113.3(FANCB):c.52T>C (p.Tyr18His)	FANCB (Y18H)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 456184	NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys)	FANCB (N10K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GBenign/Likely benign
Select item 1692534	NM_001018113.3(FANCB):c.-191-13C>T	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50