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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN9A, SCN1A-AS1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
SCN1A-AS1, SCN9A
(D1100G +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
SCN1A-AS1, SCN9A
(R896W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SCN1A-AS1, SCN9A
(P756T +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
(G616R)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+6 more
GUncertain significance
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