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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR81
(R535H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GLikely benign
WDR81
Single nucleotide variant
(synonymous variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+2 more
GLikely benign
WDR81
(P856L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
WDR81
(A1178T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+3 more
GConflicting classifications of pathogenicity
WDR81
Single nucleotide variant
(synonymous variant)
Hydrocephalus, congenital, 3, with brain anomalies
+2 more
GLikely benign
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