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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBMX
(N89S)
Single nucleotide variant
(missense variant +2 more)
Syndromic X-linked intellectual disability Shashi type
GUncertain significance
ABCD1, ADGRG4
+160 more
Copy number gain
not provided
GPathogenic