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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN8A
(S702T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN8A
(A1323T +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+4 more
GPathogenic/Likely pathogenic