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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASK
(R613* +3 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
+2 more
GPathogenic/Likely pathogenic
CASK
(R255H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity