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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR81
Deletion
(inframe_deletion +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+1 more
GUncertain significance
WDR81
(R994W)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+1 more
GUncertain significance
WDR81
(E832K)
Single nucleotide variant
(missense variant +1 more)
Hydrocephalus, congenital, 3, with brain anomalies
+2 more
GConflicting classifications of pathogenicity
WDR81
(Y1281* +3 more)
Single nucleotide variant
(nonsense)
WDR81-related neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
WDR81
(R456W)
Single nucleotide variant
(missense variant +1 more)
Hydrocephalus, congenital, 3, with brain anomalies
GUncertain significance
WDR81
Single nucleotide variant
(intron variant)
Hydrocephalus, congenital, 3, with brain anomalies
+1 more
GUncertain significance
WDR81
(L1593P +3 more)
Single nucleotide variant
(missense variant)
Hydrocephalus, congenital, 3, with brain anomalies
+2 more
GUncertain significance
WDR81
(Y1257* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
WDR81
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+1 more
GBenign
WDR81
Single nucleotide variant
(intron variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+2 more
GBenign
WDR81
(S163G)
Single nucleotide variant
(missense variant +1 more)
Hydrocephalus, congenital, 3, with brain anomalies
GUncertain significance
WDR81
(R1466W +3 more)
Single nucleotide variant
(missense variant)
Hydrocephalus, congenital, 3, with brain anomalies
GUncertain significance
WDR81
(Q684P)
Single nucleotide variant
(missense variant +1 more)
Hydrocephalus, congenital, 3, with brain anomalies
+2 more
GUncertain significance
WDR81
Single nucleotide variant
(synonymous variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+2 more
GLikely benign
WDR81
Single nucleotide variant
(synonymous variant)
Hydrocephalus, congenital, 3, with brain anomalies
+2 more
GLikely benign
WDR81
(R535H)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+3 more
GLikely benign
WDR81
(V349L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
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
(Q1096* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
WDR81
(G282E)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+1 more
GLikely pathogenic
WDR81
Single nucleotide variant
(synonymous variant)
Hydrocephalus, congenital, 3, with brain anomalies
+2 more
GBenign
WDR81
Single nucleotide variant
(synonymous variant)
Hydrocephalus, congenital, 3, with brain anomalies
+2 more
GBenign
WDR81
Single nucleotide variant
(synonymous variant)
Hydrocephalus, congenital, 3, with brain anomalies
+1 more
GBenign
WDR81
Single nucleotide variant
(synonymous variant)
Hydrocephalus, congenital, 3, with brain anomalies
+2 more
GBenign
WDR81
Single nucleotide variant
(synonymous variant)
Hydrocephalus, congenital, 3, with brain anomalies
+1 more
GBenign
WDR81
Single nucleotide variant
(synonymous variant +1 more)
Hydrocephalus, congenital, 3, with brain anomalies
+1 more
GBenign
WDR81
(P856L)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+2 more
GPathogenic/Likely pathogenic
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