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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCB1
(M27L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 15
+2 more
GUncertain significance
SMARCB1
(R37H)
Single nucleotide variant
(missense variant)
SMARCB1-related BAFopathy
+2 more
GConflicting classifications of pathogenicity
SMARCB1
(N198S +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SMARCB1
(I246S +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 15
+1 more
GUncertain significance
SMARCB1
(R374Q +3 more)
Single nucleotide variant
(missense variant)
SMARCB1-related BAFopathy
+3 more
GConflicting classifications of pathogenicity
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