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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQSEC2
(A1463T)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
GUncertain significance
IQSEC2
(A697fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 1
GLikely pathogenic