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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN9A, SCN1A-AS1
(R548*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
SCN9A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GConflicting classifications of pathogenicity