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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SET
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 58
GUncertain significance
SET
(W181fs +3 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 58
GLikely pathogenic