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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A-AS1, SCN9A
(A1632E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
SCN1A-AS1, SCN9A
(L1331fs +1 more)
Indel
(frameshift variant)
Neuropathy, hereditary sensory and autonomic, type IId
+2 more
GConflicting classifications of pathogenicity