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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCA4
(T565M)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
+3 more
GConflicting classifications of pathogenicity
SMARCA4
(D1348N +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
+1 more
GUncertain significance