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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAOK1
(E76A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GLikely pathogenic
TAOK1
(R97C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
TAOK1
(R709*)
Single nucleotide variant
(nonsense +1 more)
Developmental delay with or without intellectual impairment or behavioral abnormalities
+2 more
GConflicting classifications of pathogenicity
TAOK1
(R684C +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
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