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Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A-AS1, SCN9A
(K1977I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN1A-AS1, SCN9A
(S1972R +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(D1920H +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(L1916F +1 more)
Single nucleotide variant
(missense variant)
Inherited Erythromelalgia
+7 more
GBenign/Likely benign
SCN9A, SCN1A-AS1
(D1919G)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign
SCN9A, SCN1A-AS1
(I1917T)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
(D1846fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized epilepsy with febrile seizures plus, type 7
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(W1538R +1 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Paroxysmal extreme pain disorder
+8 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Microsatellite
(intron variant)
Inherited Erythromelalgia
+9 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
(V1428I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Inherited Erythromelalgia
+8 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Generalized epilepsy with febrile seizures plus, type 7
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(R1347Q +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(L1267V +1 more)
Single nucleotide variant
(missense variant)
Inherited Erythromelalgia
+8 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(intron variant)
Inherited Erythromelalgia
+7 more
GBenign
SCN1A-AS1, SCN9A
(N1245S +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+9 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+6 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Generalized epilepsy with febrile seizures plus, type 7
+7 more
GBenign
SCN1A-AS1, SCN9A
(I1159T +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+5 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(N1158T +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
(F1144Y +1 more)
Single nucleotide variant
(missense variant)
Congenital Indifference to Pain
+9 more
GUncertain significance
SCN9A, SCN1A-AS1
(P1135S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(R1110W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(V1106L +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+3 more
GUncertain significance
SCN9A, SCN1A-AS1
(S1099L +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GConflicting classifications of pathogenicity
SCN9A, SCN1A-AS1
Single nucleotide variant
(synonymous variant)
SCN9A-related condition
+5 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(L1042F +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(K1006N +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(R996H +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(V1002L)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+7 more
GConflicting classifications of pathogenicity
SCN9A, SCN1A-AS1
(Y990C +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+8 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCN9A, SCN1A-AS1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
(M943L)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+6 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized epilepsy with febrile seizures plus, type 7
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(W797R +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+2 more
GConflicting classifications of pathogenicity
SCN9A, SCN1A-AS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
(M787V +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+7 more
GBenign/Likely benign
SCN9A, SCN1A-AS1
(I750V)
Single nucleotide variant
(missense variant)
SCN9A-related condition
+9 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(I729M +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(intron variant)
Inherited Erythromelalgia
+7 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(intron variant)
Inherited Erythromelalgia
+7 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SCN9A, SCN1A-AS1
(I684M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
SCN1A-AS1, SCN9A
(R658H +1 more)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(K666R)
Single nucleotide variant
(missense variant)
not specified
+8 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Generalized epilepsy with febrile seizures plus, type 7
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Duplication
(intron variant)
Inherited Erythromelalgia
+10 more
GBenign
SCN1A-AS1, SCN9A
Deletion
(intron variant)
Inherited Erythromelalgia
+9 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(P610T)
Single nucleotide variant
(missense variant)
Inherited Erythromelalgia
+7 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
(D572N)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GConflicting classifications of pathogenicity
SCN9A, SCN1A-AS1
(E519K)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(S490N)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+7 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
SCN9A-related condition
+8 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+8 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
SCN1A-AS1, SCN9A
(R429H)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Inherited Erythromelalgia
+7 more
GBenign
SCN1A-AS1, SCN9A
(I413T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+5 more
GConflicting classifications of pathogenicity
SCN9A, SCN1A-AS1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy with febrile seizures plus, type 7
+7 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Inherited Erythromelalgia
+7 more
GBenign
SCN1A-AS1, SCN9A
(T370M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCN9A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SCN9A
Single nucleotide variant
(intron variant)
Generalized epilepsy with febrile seizures plus, type 7
+2 more
GConflicting classifications of pathogenicity
SCN9A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GConflicting classifications of pathogenicity
SCN9A
(I228M)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+8 more
GConflicting classifications of pathogenicity
SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GConflicting classifications of pathogenicity
SCN9A
(R185H)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+7 more
GBenign/Likely benign
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