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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRB2
(N390H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
GABRB2
(R293W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GABRB2
(T82N)
Single nucleotide variant
(missense variant)
Intellectual disability
+1 more
GConflicting classifications of pathogenicity
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