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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOX5
(R561L +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
SOX5
(E152* +3 more)
Single nucleotide variant
(nonsense)
Intellectual disability
GLikely pathogenic