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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A-AS1, SCN9A
(F1449V +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
GPathogenic
SCN1A-AS1, SCN9A
(R1150W)
Single nucleotide variant
(no sequence alteration +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GBenign
SCN1A-AS1, SCN9A
(A863P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary erythromelalgia
Gnot provided
SCN1A-AS1, SCN9A
(L858H +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+1 more
GPathogenic
SCN1A-AS1, SCN9A
(L858F +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
GPathogenic
SCN1A-AS1, SCN9A
(I848T +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GPathogenic
SCN1A-AS1, SCN9A
(L823R +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
GLikely pathogenic
SCN1A-AS1, SCN9A
(P610T)
Single nucleotide variant
(missense variant)
Inherited Erythromelalgia
+7 more
GBenign/Likely benign
SCN9A, SCN1A-AS1
(V400M)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GPathogenic
SCN9A, SCN1A-AS1
(N395K)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
Gnot provided
SCN9A
(S241T)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
GConflicting classifications of pathogenicity
SCN9A
(I234T)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+1 more
GPathogenic
SCN9A
(F216S)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
GPathogenic
SCN9A
(N206D)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
Gnot provided
SCN9A
(L201V)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
SCN9A
(I136V)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
Gnot provided
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