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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIAA0930
(A325T +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GLikely pathogenic
KIAA0930
(S324L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
+1 more
GConflicting classifications of pathogenicity
KIAA0930
(S322L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GLikely pathogenic
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