U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCB
(S28C)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group B
GUncertain significance
FANCB
(K324fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group B
GLikely pathogenic
FANCB
(S791R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
GUncertain significance
FANCB
(I685V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+1 more
GConflicting classifications of pathogenicity
FANCB
(P393S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+1 more
GUncertain significance
FANCB
(L91F)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia
+1 more
GUncertain significance
FANCB
(P542S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+2 more
GLikely benign
FANCB
(N102K)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(R406W)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GConflicting classifications of pathogenicity
FANCB
(Y539H)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GUncertain significance
FANCB
(S439R)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(S496C)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GUncertain significance
FANCB
(I304V)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(D377G)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
Indel
(nonsense)
not provided
+2 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+3 more
GLikely benign
FANCB
(R409Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GUncertain significance
FANCB
(R613P)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(D373G)
Single nucleotide variant
(missense variant)
Fanconi anemia
+3 more
GUncertain significance
FANCB
(Q198P)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GUncertain significance
FANCB
(S267L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+3 more
GUncertain significance
FANCB
(C742R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
GUncertain significance
FANCB
(S486R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+1 more
GUncertain significance
FANCB
(E573D)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(P536S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
Single nucleotide variant
(5 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+2 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(5 prime UTR variant +2 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
FANCB
(T66P)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia
+3 more
GConflicting classifications of pathogenicity
FANCB
(R121H)
Single nucleotide variant
(missense variant)
Fanconi anemia
+4 more
GConflicting classifications of pathogenicity
FANCB
(N270S)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
(R551K)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(3 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
FANCB
(S356L)
Single nucleotide variant
(missense variant)
Fanconi anemia
+4 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+3 more
GBenign/Likely benign
FANCB
(T663A)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign
FANCB
(G750fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group B
GPathogenic
FANCB
(T725fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group B
GPathogenic
FANCB
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group B
GPathogenic
FANCB
(E687*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group B
GUncertain significance
FANCB
(L676P)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
GUncertain significance
FANCB
(R619fs)
Insertion
(frameshift variant)
Fanconi anemia complementation group B
GPathogenic
FANCB
(R604fs)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group B
GPathogenic
FANCB
(S500fs)
Deletion
(frameshift variant +2 more)
Fanconi anemia complementation group B
GPathogenic
FANCB
(S368*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group B
GPathogenic
FANCB
(L329P)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
GPathogenic
FANCB
(Q317*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group B
GPathogenic
FANCB
(C277fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group B
GPathogenic
FANCB
(L252fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group B
GPathogenic
FANCB
(T66fs)
Duplication
(frameshift variant +1 more)
Fanconi anemia complementation group B
GPathogenic
FANCB
(L43S)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group B
GPathogenic
FANCB
Duplication
(splice acceptor variant +1 more)
Fanconi anemia complementation group B
GUncertain significance
FANCB
Deletion
Fanconi anemia complementation group B
GPathogenic
FANCB
(Q278R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GConflicting classifications of pathogenicity
FANCB
(V300F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GUncertain significance
FANCB
(E781G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
FANCB
(D557fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group B
GPathogenic
FANCB
(R481H)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign
FANCB
(S465P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group B
+2 more
GBenign/Likely benign
FANCB
(A776V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GBenign
FANCB
(I67V)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group B
+2 more
GConflicting classifications of pathogenicity
FANCB
(V236M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
FANCB
(T826M)
Single nucleotide variant
(missense variant)
FANCB-related disorder
+4 more
GBenign/Likely benign
FANCB
(E218Q)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(C574S)
Single nucleotide variant
(missense variant)
FANCB-related disorder
+5 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(5 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GLikely benign
FANCB
Single nucleotide variant
(5 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(5 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GBenign
FANCB
Single nucleotide variant
(5 prime UTR variant +2 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GBenign
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group B
+3 more
GBenign/Likely benign
FANCB
(E119D)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign/Likely benign
FANCB
(R261Q)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
(S305Y)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(intron variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
FANCB
(T360A)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
(S422F)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
(T437M)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign
FANCB
(K498N)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+4 more
GConflicting classifications of pathogenicity
FANCB
(S606N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
FANCB
(S771G)
Single nucleotide variant
(missense variant)
FANCB-related disorder
+4 more
GBenign/Likely benign
FANCB
(D804G)
Single nucleotide variant
(missense variant)
FANCB-related disorder
+3 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(3 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign
FANCB
Single nucleotide variant
(3 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GBenign
FANCB
Single nucleotide variant
(3 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GBenign
FANCB
Microsatellite
(intron variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
FANCB
(G335E)
Single nucleotide variant
(missense variant)
Fanconi anemia
+5 more
GBenign/Likely benign
FANCB
(R818G)
Single nucleotide variant
(missense variant)
FANCB-related disorder
+5 more
GBenign/Likely benign
FANCB
(G666S)
Single nucleotide variant
(missense variant)
History of neurodevelopmental disorder
+4 more
GConflicting classifications of pathogenicity
FANCB
(F590S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
+7 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+3 more
GConflicting classifications of pathogenicity
FANCB
(F380L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
Format
Items per page
Sort by
Choose Destination