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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC114803470, SCN8A
(N24S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
SCN8A
(E713D)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+5 more
GUncertain significance
SCN8A
Single nucleotide variant
(intron variant)
Cognitive impairment with or without cerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
SCN8A
(G1873S +1 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 5
+3 more
GUncertain significance
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