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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMS
(P112Q +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GUncertain significance
SMS
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Snyder type
GLikely pathogenic