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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN9A, SCN1A-AS1
(L1612P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
SCN9A, SCN1A-AS1
(F1462V +1 more)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
GPathogenic
SCN1A-AS1, SCN9A
(I1461N +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+1 more
GLikely pathogenic
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