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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BUB1B
(S219P)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
(E286G)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
(A348V)
Single nucleotide variant
(missense variant)
Premature chromatid separation trait
+1 more
GUncertain significance
BUB1B
(C609F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BUB1B
(T648I)
Single nucleotide variant
(missense variant)
Colorectal cancer
+4 more
GUncertain significance
BUB1B, BUB1B-PAK6
(N1032H)
Single nucleotide variant
(missense variant +1 more)
Mosaic variegated aneuploidy syndrome 1
+1 more
GConflicting classifications of pathogenicity
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