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Links from MedGen

Items: 1 to 100 of 263

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A-AS1, SCN9A
(G1495R +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GUncertain significance
SCN1A-AS1, SCN9A
(D651G)
Single nucleotide variant
(missense variant +1 more)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GLikely pathogenic
SCN1A-AS1, SCN9A
(S1194G +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
(Q1530* +1 more)
Single nucleotide variant
(nonsense)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GLikely pathogenic
SCN9A
Indel
(nonsense)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GLikely pathogenic
SCN1A-AS1, SCN9A
(W1168* +1 more)
Single nucleotide variant
(nonsense)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GPathogenic
SCN1A-AS1, SCN9A
(R657fs +1 more)
Deletion
(frameshift variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GLikely pathogenic
SCN1A-AS1, SCN9A
Deletion
(splice acceptor variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GPathogenic
SCN1A-AS1, SCN9A
Indel
(intron variant)
Primary erythromelalgia
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Deletion
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GLikely benign
SCN9A
Single nucleotide variant
(splice donor variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GPathogenic
SCN9A
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
SCN1A-AS1, SCN9A
(V1747L +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GUncertain significance
SCN9A, SCN1A-AS1
(D1690G +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(splice acceptor variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GPathogenic
SCN9A
Single nucleotide variant
(intron variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GPathogenic
SCN1A-AS1, SCN9A
(C1339R +1 more)
Single nucleotide variant
(missense variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GPathogenic
SCN1A-AS1, SCN9A
(D1100G +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GUncertain significance
SCN9A
(K301*)
Single nucleotide variant
(nonsense)
Primary erythromelalgia
+1 more
GLikely pathogenic
SCN1A-AS1, SCN9A
(V872F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized epilepsy with febrile seizures plus, type 7
+5 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(D1100A +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
(T1935R +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+6 more
GUncertain significance
SCN1A-AS1, SCN9A
(R907Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GPathogenic/Likely pathogenic
SCN9A
(P5T)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+5 more
GUncertain significance
SCN1A-AS1, SCN9A
(D736H +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)
Primary erythromelalgia
+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
Single nucleotide variant
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN9A
Single nucleotide variant
(5 prime UTR variant)
Primary erythromelalgia
+2 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+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)
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, SCN1A-AS1
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
(genic upstream transcript variant)
Primary erythromelalgia
+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
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)
Primary erythromelalgia
+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)
not provided
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+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)
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)
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
Single nucleotide variant
(5 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+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
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+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)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
(R1367C +1 more)
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)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+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)
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
(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
SCN1A-AS1, SCN9A
(L1823F +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
(R523*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
SCN9A
(V13I)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+5 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)
Primary erythromelalgia
+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
(A1627T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized epilepsy with febrile seizures plus, type 7
+2 more
GUncertain significance
SCN9A, SCN1A-AS1
(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)
Primary erythromelalgia
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(K666N +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GUncertain significance
SCN9A, SCN1A-AS1
(E1841A +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
(W797* +1 more)
Single nucleotide variant
(nonsense)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+3 more
GPathogenic
SCN1A-AS1, SCN9A
(S1792C +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+5 more
GUncertain significance
SCN9A
Single nucleotide variant
(synonymous variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+5 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(R429C)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+6 more
GConflicting classifications of pathogenicity
SCN9A
Single nucleotide variant
(synonymous variant)
Paroxysmal extreme pain disorder
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(S535L)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+7 more
GUncertain significance
SCN1A-AS1, SCN9A
(S1972I +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+6 more
GUncertain significance
SCN1A-AS1, SCN9A
(W1567* +1 more)
Single nucleotide variant
(nonsense)
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GPathogenic/Likely pathogenic
SCN1A-AS1, SCN9A
(V1444fs +1 more)
Deletion
(frameshift variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
GPathogenic
SCN9A, SCN1A-AS1
(N1929K +1 more)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+5 more
GUncertain significance
SCN9A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GLikely benign
SCN9A
(R185C)
Single nucleotide variant
(missense variant)
Primary erythromelalgia
+5 more
GUncertain significance
SCN1A-AS1, SCN9A
(E1773fs +1 more)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
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)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(E1139K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+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
(L818fs)
Deletion
(frameshift variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GPathogenic
SCN1A-AS1, SCN9A
(R658H +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(synonymous variant)
Paroxysmal extreme pain disorder
+6 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(N1169D +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(M943L +1 more)
Single nucleotide variant
(missense variant)
Small fiber neuropathy
GPathogenic
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