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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCB
(C742R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
GUncertain significance
FANCB
(Q524*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group B
GLikely pathogenic
FANCB
(S439R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GUncertain significance
FANCB
(K324fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group B
GLikely pathogenic
FANCB
(S28C)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group B
GUncertain significance
ACE2, ACOT9
+94 more
Copy number gain
not provided
GPathogenic
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