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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNKSR2
(Q100*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CNKSR2
(R315G +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, syndromic, Houge type
GLikely pathogenic
CNKSR2
(T384fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
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