U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 531

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCB, GLRA2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FANCB, GLRA2
(E278Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
GLikely benign
FANCB
(K855E)
Single nucleotide variant
(missense variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
GLikely benign
FANCB
(A852T)
Single nucleotide variant
(missense variant)
Fanconi anemia
GLikely benign
FANCB
(F851L)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GBenign
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
GLikely benign
FANCB
(K841E)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(T839A)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(R836K)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
GLikely benign
FANCB
(K829E)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(T826K)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(T826M)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+3 more
GBenign/Likely benign
FANCB
(L824V)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(M823V)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(R818G)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GBenign
FANCB
(R813S)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(R813I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FANCB
(Y812C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(H810Y)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(E807A)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(D804G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GBenign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(A799T)
Single nucleotide variant
(missense variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+1 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GBenign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+2 more
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
FANCB
(S791G)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(M785V)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(E781G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(I777M)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(I777T)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(I777V)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(A776V)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(S771G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+3 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(K765E)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+1 more
GUncertain significance
FANCB
(E764A)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(M759T)
Single nucleotide variant
(missense variant)
Fanconi anemia
GLikely benign
FANCB
(M759V)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(I756T)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(F743Y)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(F743C)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GConflicting classifications of pathogenicity
FANCB
(N741K)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(N741I)
Single nucleotide variant
(missense variant)
Fanconi anemia
GLikely benign
FANCB
(I740T)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(I740V)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(R736G)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(I735del)
Microsatellite
(inframe_deletion)
Fanconi anemia
GUncertain significance
FANCB
(H732R)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
GLikely benign
FANCB
(T725A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FANCB
(N723S)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
Deletion
(intron variant)
Fanconi anemia
GBenign
FANCB
Single nucleotide variant
(intron variant)
Fanconi anemia
GLikely benign
FANCB
Microsatellite
(intron variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(intron variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(intron variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(intron variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(intron variant)
Fanconi anemia
GLikely benign
FANCB
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GBenign
FANCB
Single nucleotide variant
(intron variant)
Fanconi anemia
GUncertain significance
FANCB
(R722M)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCB
(Y720C)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCB
(I718M)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
Format
Items per page
Sort by
Choose Destination