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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETD2
(Y1666C +1 more)
Single nucleotide variant
(missense variant +1 more)
Genetic syndrome with a Dandy-Walker malformation as major feature
+3 more
GPathogenic/Likely pathogenic
WDR37
(T125I)
Single nucleotide variant
(missense variant)
WDR37-related condition
+7 more
GPathogenic/Likely pathogenic
KIF4A
(R265L)
Single nucleotide variant
(missense variant)
Ventriculomegaly
+5 more
GLikely pathogenic
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