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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCB1
(T357R +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 15
+1 more
GConflicting classifications of pathogenicity
SMARCB1
(K363E +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 15
+1 more
GPathogenic/Likely pathogenic