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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASK
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GLikely benign
CASK
(Y282*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
+4 more
GPathogenic