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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN9A, SCN1A-AS1
(R907Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GPathogenic/Likely pathogenic
SCN1A-AS1, SCN9A
Single nucleotide variant
(splice acceptor variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GPathogenic
SCN9A
Single nucleotide variant
(intron variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GPathogenic
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