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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRWD3
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, X-linked 93
GLikely pathogenic
BRWD3
(R190*)
Single nucleotide variant
(nonsense)
Intellectual disability, X-linked 93
GPathogenic