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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USP9X
(P58S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USP9X
(L1379fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 99, syndromic, female-restricted
GPathogenic