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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNKSR2
(S374N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, syndromic, Houge type
GUncertain significance
CNKSR2
(Q443* +3 more)
Single nucleotide variant
(nonsense)
Intellectual disability, X-linked, syndromic, Houge type
GLikely pathogenic
CNKSR2
(K481R +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, syndromic, Houge type
GUncertain significance
CNKSR2
(E664A +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, syndromic, Houge type
GUncertain significance
CNKSR2
(T1004A +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, syndromic, Houge type
+1 more
GUncertain significance
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