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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIA4
(W179*)
Single nucleotide variant
(nonsense +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GLikely pathogenic
GRIA4
(R278L)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with or without seizures and gait abnormalities
GUncertain significance