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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASK
(E841fs +3 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(R681* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CASK
Deletion
(splice donor variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(Y413fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
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