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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCA4
(R451L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
GLikely pathogenic
SMARCA4
(G951R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SMARCA4
(R978Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SMARCA4
(R1043W)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+1 more
GPathogenic/Likely pathogenic
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