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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR81
(E723K)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
GLikely benign
WDR81
(R1333* +3 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
WDR81
(M135T +3 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
GLikely benign
WDR81
(R388W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR81
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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