U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR81
(G579R)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
GUncertain significance
WDR81
(R804*)
Single nucleotide variant
(nonsense +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
GLikely pathogenic