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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCB1
(I28M)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 15
GUncertain significance
SMARCB1
(R374W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity