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Links from MedGen

Items: 1 to 100 of 266

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A-AS1, SCN9A
Indel
(intron variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Deletion
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GLikely benign
SCN1A-AS1, SCN9A
(M921T +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GUncertain significance
SCN9A
Single nucleotide variant
(intron variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(intron variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GBenign
IDH1
(C297F)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
GLikely pathogenic
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
(V872F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary erythromelalgia
+5 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(D1100A +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
(T1935R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
SCN9A, SCN1A-AS1
(D736H +1 more)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN9A
Single nucleotide variant
Primary erythromelalgia
+2 more
GUncertain significance
SCN9A
Single nucleotide variant
(5 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
(G327E)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(Y1481H +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN9A
Single nucleotide variant
(genic upstream transcript variant)
Primary erythromelalgia
+2 more
GUncertain significance
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN9A
Single nucleotide variant
(5 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
SCN9A
(Q25K)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
(D736V +1 more)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
(C1159Y +1 more)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN9A
Single nucleotide variant
(5 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN9A
(P80S)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
(I1080T +1 more)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
(R1367C +1 more)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Paroxysmal extreme pain disorder
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(R1848H +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+5 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Generalized epilepsy with febrile seizures plus, type 7
+1 more
GUncertain significance
SCN1A-AS1, SCN9A
(M1582T +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
SCN9A
(V13I)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(V1130I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary erythromelalgia
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
(F772S +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GUncertain significance
SCN9A
(C255Y)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+6 more
GUncertain significance
SCN1A-AS1, SCN9A
(D1982V +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(K666N +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Primary erythromelalgia
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
(S1792C +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+5 more
GUncertain significance
SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+5 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(R429C)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+6 more
GConflicting classifications of pathogenicity
SCN9A
Single nucleotide variant
(synonymous variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(S535L)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+7 more
GUncertain significance
SCN1A-AS1, SCN9A
(S1972I +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+6 more
GUncertain significance
SCN1A-AS1, SCN9A
(N1929K +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+5 more
GUncertain significance
SCN9A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+6 more
GLikely benign
SCN9A
(R185C)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+5 more
GUncertain significance
SCN1A-AS1, SCN9A
(I1445M +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+5 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Paroxysmal extreme pain disorder
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(R1150Q +1 more)
Single nucleotide variant
(nonsense)
Primary erythromelalgia
+5 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(E1139K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
(T1031I +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)
Inborn genetic diseases
+7 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
(P756T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
(N1169D +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+6 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(I1461N +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+1 more
GLikely pathogenic
SCN9A, SCN1A-AS1
(F1462V +1 more)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
GPathogenic
SCN1A-AS1, SCN9A
(M943L +1 more)
Single nucleotide variant
(missense variant)
Small fiber neuropathy
GPathogenic
SCN1A-AS1, SCN9A
(W1161R +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign
SCN1A-AS1, SCN9A
(G616R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SCN9A, SCN1A-AS1
(L1612P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
SCN1A-AS1, SCN9A
(R896W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
SCN1A-AS1, SCN9A
(M426K)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(K1045R +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+6 more
GConflicting classifications of pathogenicity
SCN9A
Single nucleotide variant
(genic upstream transcript variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+3 more
GUncertain significance
SCN9A
Single nucleotide variant
(genic upstream transcript variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+3 more
GUncertain significance
SCN9A
Single nucleotide variant
(genic upstream transcript variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GBenign
SCN9A
Single nucleotide variant
(5 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GBenign/Likely benign
SCN9A
Single nucleotide variant
(5 prime UTR variant)
Small fiber neuropathy
+4 more
GBenign
SCN9A
Single nucleotide variant
(5 prime UTR variant)
Primary erythromelalgia
+4 more
GBenign/Likely benign
SCN9A
Single nucleotide variant
(5 prime UTR variant)
Inherited Erythromelalgia
+3 more
GConflicting classifications of pathogenicity
SCN9A
Single nucleotide variant
(5 prime UTR variant)
Primary erythromelalgia
+3 more
GUncertain significance
SCN9A
Single nucleotide variant
(synonymous variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+7 more
GConflicting classifications of pathogenicity
SCN9A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
SCN9A
(N92Y)
Single nucleotide variant
(missense variant)
Paroxysmal extreme pain disorder
+3 more
GUncertain significance
SCN9A
(P229T)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+5 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(D338E)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+3 more
GUncertain significance
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