Sugi Variant

Sugi Variant/SCN9A

SCN9A — 2997 ClinVar variants

All ClinVar germline SCN9A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1657 flagged for review →

113 Pathogenic · 13 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 152 Conflicting · 53 Benign · 62 Benign/Likely benign · 765 Likely benign · 1783 Uncertain significance

Full SCN9A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1657

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 58

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 1186

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1186

Predictors split 410

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 410

All SCN9A variants

Pathogenic 113

  • p.Ala1643Glu Multiple submitters paroxysmal extreme pain disorder
  • p.Arg1499Ter Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg523Ter Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Arg548Ter Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Ile1472Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile859Thr Multiple submitters SCN9A-related peripheral neuropathies associated with increased pain
  • p.Leu818fs Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Leu869His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Trp1332Ter Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Trp714Ter Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Trp808Ter Multiple submitters Inborn genetic diseases
  • p.Val1310Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Val400Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.3352-1G>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3801+1G>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.596+1G>A Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.966-2_972del Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.966-2A>G Single submitter
  • p.Ala1247fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ala1294_Leu1295insTer Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ala1705fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ala546fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg1381Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Arg1610Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Arg510fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg510Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg560fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg597Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg688fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg835Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asn1502fs Single submitter
  • p.Asn1514fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp1582delinsPheTer Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp678fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp799fs Single submitter
  • p.Asp902_Cys903insTer Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Cys140Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Cys1715fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Cys177Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Cys944Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gln1363Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gln18Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Glu1008fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Glu1152fs Single submitter primary erythermalgia
  • p.Glu34fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Glu45Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Glu930Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Glu981Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Gly1063Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gly375fs Single submitter Inborn genetic diseases
  • p.Gly860fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gly867Arg Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile122fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ile1504fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ile1555fs Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Ile234Thr Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile740fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile859fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ile859Phe Single submitter paroxysmal extreme pain disorder
  • p.Ile995_Lys996insTer Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile995fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Leu1399fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Lys1033fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Lys301fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Lys39fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Lys432fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Lys499fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Lys890Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Phe1062fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Phe128fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Phe254fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Phe589fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Pro1319Leu Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser1196fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser1362fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser167Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ser241Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser449fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser501Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ser635Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser836Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Thr1184fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Thr1272_Leu1273insTer Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Thr1475Ile Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Thr1607fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Thr1695fs Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Thr377fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Trp1179Ter Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Trp1245Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Trp1258Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Trp1700Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Trp190Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Trp713Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Trp908Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Tyr1668Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Tyr305Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Tyr328Ter Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Tyr803Ter Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Val1455fs Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Val775delinsAspTer Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Trp1332Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1108-2A>G No assertion criteria channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.377+7T>G No assertion criteria channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Ala777_Ile778insTer No assertion criteria channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Cys1350Arg No assertion criteria channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Glu1545Ter No assertion criteria channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Leu869Phe No assertion criteria primary erythermalgia
  • p.Phe1460Val No assertion criteria primary erythermalgia
  • p.Phe1473Val No assertion criteria paroxysmal extreme pain disorder
  • p.Phe216Ser No assertion criteria primary erythermalgia
  • p.Ser459Ter No assertion criteria channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Val1309Asp No assertion criteria paroxysmal extreme pain disorder
  • p.Val1309Phe No assertion criteria paroxysmal extreme pain disorder

Pathogenic/Likely pathogenic 13

  • c.258+1G>A Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Arg1619Ter Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Arg277Ter Multiple submitters SCN9A-related disorder
  • p.Arg841Ter Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Arg907Gln Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Asn395Lys Multiple submitters SCN9A-related disorder
  • p.Glu1784fs Multiple submitters Inborn genetic diseases
  • p.Glu704Ter Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Lys1670Ter Multiple submitters Inborn genetic diseases
  • p.Lys735fs Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Trp1260Ter Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Trp1578Ter Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Val205fs Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A

Likely pathogenic 56

  • c.378-1C>T Multiple submitters SCN9A-related disorder
  • c.4399-1C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Lys301Ter Multiple submitters primary erythermalgia
  • p.Met1639Lys Multiple submitters SCN9A-related disorder
  • c.1106_1107+36del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1314+1G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1314+1G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1602+1_1602+2insTGTCGAAGGGCATAGGCGAGCACATGAAAAGAGGTTGTCTACCCCCAATCAGGAC Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1602+1G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2343+2T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2344-2A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2517+1G>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.2518-1G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.258_258+81del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.258+1G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.258+2T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2875-1G>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3351+2T>G Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3628-1G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3796_3801+23del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3924+1G>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3925-2A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4398+2T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4503+1G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.468-1G>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.468-1G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.596+1del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.596+1G>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.965+1G>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ala1143Pro Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg117del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg668fs Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Asp1857fs Single submitter
  • p.Asp1959Ala Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp651Gly Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive ⚠
  • p.Cys1715_Asp1716delinsTer Single submitter SCN9A-related disorder
  • p.Gln1541Ter Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Gln886Glu Single submitter primary erythermalgia
  • p.Glu1798Ter Single submitter
  • p.Glu894fs Single submitter primary erythermalgia
  • p.Gly236Trp Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gly867Asp Single submitter
  • p.Ile1472Asn Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ile754fs Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Leu1623Pro Single submitter paroxysmal extreme pain disorder
  • p.Leu834Arg Single submitter primary erythermalgia
  • p.Lys1068fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Lys1503Ter Single submitter
  • p.Met143fs Single submitter
  • p.Thr1475fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Trp1193Ter Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Trp1549Ter Single submitter
  • p.Tyr738fs Single submitter SCN9A-related disorder
  • p.Val1310Ile Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Val235_Ala237delinsGlnAlaTer Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Met1655Val No assertion criteria channelopathy-associated congenital insensitivity to pain, autosomal recessive

Conflicting classifications of pathogenicity 152

  • c.1314+5T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1314+7T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.1975-8T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2104+7A>G Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.2105-8T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2875-6_2875-5delinsG Single submitter Inborn genetic diseases
  • c.377+5C>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3925-13T>C Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.4399-6_4399-3del Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4399-6C>A Single submitter Inborn genetic diseases
  • c.4503+1G>T Single submitter Inborn genetic diseases
  • c.688+9T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.689-6T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.901+5G>C Single submitter SCN9A-related disorder
  • c.902-2A>C Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.965+13T>C Single submitter paroxysmal extreme pain disorder
  • c.-31G>A Single submitter paroxysmal extreme pain disorder
  • c.-42T>C Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.-92G>T Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*217G>A Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*2191G>A Single submitter paroxysmal extreme pain disorder
  • c.*2226T>G Single submitter primary erythermalgia
  • c.*2228G>T Single submitter primary erythermalgia
  • c.*3426A>T Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*785C>T Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Ala1103Thr Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ala1793= Single submitter paroxysmal extreme pain disorder
  • p.Ala442= Single submitter Inborn genetic diseases
  • p.Ala571= Single submitter paroxysmal extreme pain disorder
  • p.Arg1007Cys Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg1007His Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive ⚠
  • p.Arg1162Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1358Gln Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive ⚠
  • p.Arg1367His Single submitter Inborn genetic diseases ⚠
  • p.Arg1381= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Arg1381Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1499= Single submitter Inborn genetic diseases
  • p.Arg1902Cys Single submitter primary erythermalgia ⚠
  • p.Arg1904His Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg214= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Arg214Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg277= Single submitter Inborn genetic diseases
  • p.Arg429Cys Single submitter febrile seizures, familial, 1 ⚠
  • p.Arg429His Single submitter Inborn genetic diseases ⚠
  • p.Arg540His Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg597Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg598His Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg669Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg669His Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg716= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg907Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg922= Single submitter Inborn genetic diseases
  • p.Asn1180Asp Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asn1256Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn641Tyr Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asn853_Lys857del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp1073Asn Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp1267= Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Asp1471= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp1729Glu Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp1931His Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asp1982Val Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp43= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp572Asn Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Cys1159Tyr Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive ⚠
  • p.Cys1370= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Gln1862= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gln485Arg Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu1150Lys Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Glu287= Single submitter Inborn genetic diseases
  • p.Glu519Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly327Glu Single submitter paroxysmal extreme pain disorder ⚠
  • p.Ile1010Val Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1170Thr Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1181= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile1236Val Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1315Thr Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1337Leu Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile1435Met Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile1456= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ile1555Val Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile1647= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile1745= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ile228Met Single submitter paroxysmal extreme pain disorder ⚠
  • p.Ile413Thr Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile450Val Single submitter Inborn genetic diseases ⚠
  • p.Ile731Lys Single submitter Inborn genetic diseases ⚠
  • p.Ile750Val Single submitter Inborn genetic diseases ⚠
  • p.Ile89= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile89Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1030Pro Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu1053Phe Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu1134Phe Single submitter primary erythermalgia ⚠
  • p.Leu1239Met Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu1278Val Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu1399= Single submitter Inborn genetic diseases
  • p.Leu1511= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Leu488= Single submitter Inborn genetic diseases
  • p.Leu554Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu680Val Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu839= Single submitter Inborn genetic diseases
  • p.Leu988= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Lys1017Asn Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Lys1056Arg Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Lys121Gln Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Lys1383Arg Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Lys274= Single submitter primary erythermalgia
  • p.Met379Val Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Met403Thr Single submitter paroxysmal extreme pain disorder ⚠
  • p.Met426Lys Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Phe721Val Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Pro1135Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro229Thr Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ser1065= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser110Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser1110Leu Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ser1115Arg Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ser1115Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser1123Asn Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser126= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser1983Arg Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ser449= Single submitter Inborn genetic diseases
  • p.Ser508Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser51Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser606Arg Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ser832= Single submitter Inborn genetic diseases
  • p.Thr1156Ile Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Thr1409Met Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Thr370= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Thr370Met Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Thr660= Single submitter Inborn genetic diseases
  • p.Thr660Met Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Thr784Ser Single submitter Inborn genetic diseases ⚠
  • p.Trp1161Ter Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Trp808Arg Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Tyr1001Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr1228= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Tyr1253= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Val1002Leu Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Val1066Met Single submitter Inborn genetic diseases ⚠
  • p.Val1380Ala Single submitter Inborn genetic diseases
  • p.Val1438= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Val169= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Val383= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Val384Ile Single submitter generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Val71= Single submitter paroxysmal extreme pain disorder
  • p.Val821Met Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Val883= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Val883Phe Single submitter primary erythermalgia ⚠
  • p.Val951Ala Single submitter Inborn genetic diseases ⚠
  • p.Leu1342fs No assertion criteria Charcot-Marie-Tooth disease
  • p.Ser241Thr No assertion criteria primary erythermalgia ⚠

Benign 53

  • c.1107+48C>T Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.1603-14dup Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.1975-3del Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.3802-8T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.596+25C>T Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.-290T>C Multiple submitters paroxysmal extreme pain disorder
  • c.-307G>T Multiple submitters paroxysmal extreme pain disorder
  • c.*1013C>T Multiple submitters primary erythermalgia
  • c.*129C>T Multiple submitters paroxysmal extreme pain disorder
  • c.*1774G>A Multiple submitters primary erythermalgia
  • c.*1796C>T Multiple submitters primary erythermalgia
  • c.*2146G>C Multiple submitters primary erythermalgia
  • c.*2154C>G Multiple submitters primary erythermalgia
  • c.*2297A>T Multiple submitters paroxysmal extreme pain disorder
  • c.*237C>G Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*2640G>A Multiple submitters paroxysmal extreme pain disorder
  • c.*2854T>C Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Ile1225= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Trp1161= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Val385= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.1975-72dup Single submitter
  • c.2105-8dup Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2517+72A>G Single submitter
  • c.2518-80C>A Single submitter
  • c.259-79G>A Single submitter
  • c.2874+13del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2875-20del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2875-5del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3352-7381G>A Single submitter
  • c.3628-58dup Single submitter
  • c.377+93G>T Single submitter
  • c.377+94A>G Single submitter
  • c.378-90T>A Single submitter
  • c.3802-70C>T Single submitter
  • c.4206+77A>C Single submitter
  • c.4775-54C>T Single submitter
  • c.689-14del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.689-4dup Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.*1184T>G Single submitter primary erythermalgia
  • c.*125C>T Single submitter paroxysmal extreme pain disorder
  • c.*1492C>G Single submitter primary erythermalgia
  • c.*1660G>A Single submitter primary erythermalgia
  • c.*18A>G Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*2136C>G Single submitter primary erythermalgia
  • c.*2155G>A Single submitter paroxysmal extreme pain disorder
  • c.*2323G>T Single submitter paroxysmal extreme pain disorder
  • c.*2540C>T Single submitter paroxysmal extreme pain disorder
  • c.*2662G>A Single submitter paroxysmal extreme pain disorder
  • c.*377C>G Single submitter paroxysmal extreme pain disorder
  • c.*958C>T Single submitter primary erythermalgia
  • p.Leu1708= Single submitter
  • p.Pro1706= Single submitter
  • c.1974+9G>A No assertion criteria SCN9A-related disorder

Benign/Likely benign 62

  • c.1974+8C>T Multiple submitters
  • c.1975-3dup Multiple submitters Dravet syndrome
  • c.2105-14C>T Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.2105-15G>A Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.2343+17G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.2344-20A>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.2517+6C>T Multiple submitters paroxysmal extreme pain disorder
  • c.2874+11_2874+13delinsTT Multiple submitters
  • c.2875-6A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.3472+14T>C Multiple submitters paroxysmal extreme pain disorder
  • c.3802-4A>G Multiple submitters paroxysmal extreme pain disorder
  • c.4399-10_4399-7del Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.4399-14G>T Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.4399-17_4399-16insA Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.4774+16T>A Multiple submitters paroxysmal extreme pain disorder
  • c.688+13T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.689-20C>G Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.-283G>C Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*204G>A Multiple submitters paroxysmal extreme pain disorder
  • c.*235T>C Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Ala373= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg1121Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg1121Trp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg185His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg429= Multiple submitters paroxysmal extreme pain disorder
  • p.Asn1169Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asn911= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp1919Gly Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Gln58= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Glu422= Multiple submitters paroxysmal extreme pain disorder
  • p.Gly867= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Leu1749= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Leu1927Phe Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Leu722Ser Multiple submitters primary erythermalgia
  • p.Leu871= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Lys666Arg Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Met798Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Met943Leu Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Phe1452= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Pro148= Multiple submitters paroxysmal extreme pain disorder
  • p.Pro610Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Pro613Leu Multiple submitters paroxysmal extreme pain disorder
  • p.Ser1096= Multiple submitters Inborn genetic diseases
  • p.Ser466= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser490Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser813Gly Multiple submitters paroxysmal extreme pain disorder
  • p.Trp1161Arg Multiple submitters primary erythermalgia
  • p.Trp1549Arg Multiple submitters Inborn genetic diseases
  • p.Trp730Cys Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Tyr803= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Val1392= Multiple submitters Inborn genetic diseases
  • p.Val1439Ile Multiple submitters Inborn genetic diseases
  • p.Val1604= Multiple submitters paroxysmal extreme pain disorder
  • p.Val951= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.-294T>C Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*2212T>C Single submitter paroxysmal extreme pain disorder
  • c.*2312A>T Single submitter paroxysmal extreme pain disorder
  • c.*2721C>G Single submitter paroxysmal extreme pain disorder
  • c.*3038C>T Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*3317A>G Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*362C>T Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • c.*920T>A Single submitter channelopathy-associated congenital insensitivity to pain, autosomal recessive

Likely benign 765

Showing the top 300 by review status; the full set is in the sitemap.

  • p.Val951= Multiple submitters Inborn genetic diseases
  • c.1107+7A>G Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.1108-5C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.1602+15G>T Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.1603-14T>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.1975-17A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.1975-4_1975-3dup Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.2343+13T>A Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.2343+13T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.258+14G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.2874+11A>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.2874+12G>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.3351+15T>C Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.3351+19C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.3473-19T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.378-20G>T Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.3801+12T>C Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.3802-13del Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.3925-10T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.4261-13G>C Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.4503+9dup Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.4504-8C>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.468-20C>T Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.468-8G>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.965+18T>C Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.966-6G>A Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.966-8G>A Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.966-8G>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ala1643= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Ala444= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Ala605= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Ala865= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Arg1835= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Arg277Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg522= Multiple submitters Inborn genetic diseases
  • p.Arg99= Multiple submitters Inborn genetic diseases
  • p.Asn1180= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asn146= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asn1676= Multiple submitters Inborn genetic diseases
  • p.Asn283= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asn336= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asn684= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asn900= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp1673= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp1778= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp192= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp1923= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp311= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp79= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Cys1259= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Cys330= Multiple submitters Inborn genetic diseases
  • p.Gln10Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gln1167= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gln1363= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Gln1888= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Glu1349= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Glu294= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Glu297= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gly1076= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.His1069= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.His1191= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.His909= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile132= Multiple submitters Inborn genetic diseases
  • p.Ile1556= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile1567= Multiple submitters Inborn genetic diseases
  • p.Ile1836= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Leu1278= Multiple submitters Inborn genetic diseases
  • p.Leu131= Multiple submitters Inborn genetic diseases
  • p.Leu1325= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Leu1333= Multiple submitters Inborn genetic diseases
  • p.Leu1431= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Leu1651= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Leu371= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Leu759= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Leu852= Multiple submitters Inborn genetic diseases
  • p.Lys1012= Multiple submitters Inborn genetic diseases
  • p.Lys1670= Multiple submitters Inborn genetic diseases
  • p.Lys527= Multiple submitters Inborn genetic diseases
  • p.Phe1359= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Phe1609= Multiple submitters Inborn genetic diseases
  • p.Phe1656= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Phe61= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Phe878= Multiple submitters Inborn genetic diseases
  • p.Pro104= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Pro1425= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Pro613= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Pro800= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser1192= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser1568= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ser1589= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Thr1353= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Thr1354= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Thr1409= Multiple submitters Inborn genetic diseases
  • p.Thr751= Multiple submitters Inborn genetic diseases
  • p.Thr904= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Tyr1001= Multiple submitters Inborn genetic diseases
  • p.Tyr1658= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Tyr1783= Multiple submitters Inborn genetic diseases
  • p.Val1380= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Val194= Multiple submitters Inborn genetic diseases
  • p.Val518= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Val938= Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Val1624Ile Multiple submitters Inborn genetic diseases
  • p.Leu529= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Ser466= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Thr342= Single submitter
  • c.1107+12G>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1107+20T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1107+20T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1108-10T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1108-13C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1108-18dup Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1314+15T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1314+4C>T Single submitter
  • c.1315-16G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1315-16G>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.1315-17C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1315-7del Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Val518= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1602+11A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1602+17T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1602+18A>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1602+8C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1603-13A>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1603-20T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1603-5dup Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1603-9T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ala571= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1975-10_1975-3dup Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1975-12_1975-11insA Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1975-12T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1975-14G>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.1975-16T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1975-20T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.1975-9T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2104+12T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2104+16C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2104+8del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2105-14C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2105-14del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2105-19C>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.2105-5C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2105-6T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2105-8T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2343+16T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2343+18T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2343+9C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2344-15_2344-13del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2344-15A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2517+12C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2517+17G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2518-12A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2518-17T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2518-20A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2518-4T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2518-8G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.258+12T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.258+14del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.258+14G>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.258+16C>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.259-12T>G Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.259-16_259-13del Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.259-17T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.259-19T>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.259-5T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.259-9C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Thr904= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.2874+11_2874+13del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2874+12G>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.2874+15G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2874+20T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2874+9C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2875-12A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2875-12A>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2875-13C>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.2875-16C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2875-18C>T Single submitter
  • c.2875-20C>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.2875-20C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.2875-6A>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Thr1005= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3351+10C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3351+10C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3351+11T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3351+16A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3351+17T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3351+9G>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3352-16G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3472+12A>C Single submitter
  • c.3472+15del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3472+16A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3472+19C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3472+7C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3473-15T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3473-20A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3473-9T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3627+10C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3627+17C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3627+8A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3628-12T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3628-16A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3628-7T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3628-8T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.377+10T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.377+12A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.377+17G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.377+20T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.378-10T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.378-11T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3801+15G>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3801+20T>C Single submitter
  • c.3801+8C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3802-13G>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3802-18A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3802-19G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3802-23_3802-20del Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Arg1290= Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3924+12C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3924+16dup Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3924+17C>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.3924+20T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3924+9A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.3925-4C>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • p.Arg1381= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4206+11C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4206+12A>G Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4206+18T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4206+9C>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4207-13G>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4207-15del Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4207-5T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4207-8T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4207-9T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4261-11A>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4261-15T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4261-16T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4261-17T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4261-4A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4261-7T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4398+14A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4398+7A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4399-10_4399-3del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4399-15_4399-11del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4399-5T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+10del Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4503+10T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+11A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+14T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+15A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+18T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+19C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+19del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+8_4503+9insT Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+8A>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4503+9del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4504-12A>T Single submitter
  • c.4504-13T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4504-15_4504-10del Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4504-19T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4504-20T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.467+12T>A Single submitter
  • c.467+16T>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.467+16T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.467+18C>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.467+19A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.467+9G>A Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.468-10T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.468-12T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.468-18A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4774+10T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4774+11T>C Single submitter
  • c.4774+12del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4774+12T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4774+13_4774+16del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4774+16_4774+17delinsAC Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4774+16_4774+17insATTA Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4774+19C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4775-10C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4775-11T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4775-12C>T Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4775-13C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4775-15T>C Single submitter generalized epilepsy with febrile seizures plus, type 7
  • c.4775-16T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4775-4A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.4775-7C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile1612= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Leu1623= Single submitter
  • p.Ala1627= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Leu1650= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Val1752= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.596+10T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.596+14G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.596+17T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.596+8C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.596+9T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.597-16T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.597-19T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.688+15G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.688+17G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • c.688+19G>C Single submitter generalized epilepsy with febrile seizures plus, type 7

Uncertain significance 1783

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1314+3A>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.1602+5del Multiple submitters Inborn genetic diseases
  • c.2874+4T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.3351+5G>A Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.3802-6_3802-5del Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.4206+3A>G Multiple submitters Inborn genetic diseases
  • c.4206+6del Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • c.4261-3T>C Multiple submitters Inborn genetic diseases
  • c.468-15_468-8del Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • c.*1770A>C Multiple submitters primary erythermalgia
  • c.*237C>T Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • p.Met1543Ile Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ala1013Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala102Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ala1044Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1143Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala1516Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala1627Thr Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive ⚠
  • p.Ala1793Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala1816Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ala1825Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala374Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala402Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala416Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala437Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala442Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala444Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala46Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala473Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala718Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ala777Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ala789Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ala865Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala939Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Arg1025Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1290Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg1290Trp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg1358Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg1367Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg1613His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg1622His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg1631Leu Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Arg1848His Multiple submitters primary erythermalgia ⚠
  • p.Arg1848Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg185Cys Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Arg1860Cys Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Arg1898Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg1898Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1902His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1904Cys Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Arg214Gln Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Arg26Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg26Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg372Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg372His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg429Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Arg454Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg523Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg548Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg585Lys Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Arg598Cys Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Arg634Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg634His Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Arg634Leu Multiple submitters SCN9A-related disorder ⚠
  • p.Arg668Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Arg716Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg835Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg922His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg99His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn101Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1352Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asn1388Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asn1391Asp Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asn139Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1665Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asn1753Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asn1819Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1940Lys Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asn336Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asn365Ser Multiple submitters paroxysmal extreme pain disorder ⚠
  • p.Asn533Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asn615Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asn641Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asn774Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp1057Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp1097Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1097Tyr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asp1111Ala Multiple submitters primary erythermalgia ⚠
  • p.Asp1230Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp1677Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asp1714Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp1716Asn Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Asp1924Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1965Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1978Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1982fs Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asp247Asn Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Asp298Asn Multiple submitters ⚠
  • p.Asp65Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp747Val Multiple submitters paroxysmal extreme pain disorder ⚠
  • p.Asp912Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Asp982Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Cys1127Tyr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Cys1562Tyr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Cys177Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Cys255Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Cys710Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Cys753Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gln1026Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln10His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1494Glu Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Gln1541Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gln25Lys Multiple submitters paroxysmal extreme pain disorder ⚠
  • p.Gln265Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu1369Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1672Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu1780Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu180Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu1852Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1855Lys Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Glu1939Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1985Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu1985Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu38Gly Multiple submitters ⚠
  • p.Glu435Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu435Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu446Lys Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Glu45del Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Glu582Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu704Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu704Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu76Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu771Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu802Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Glu927Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly1049Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly1138del Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Gly1393Arg Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Gly1395Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly1469Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1626Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly1736Ala Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Gly1833Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly1851Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly1854Glu Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Gly308Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Gly375Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly457Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly517Arg Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Gly559Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly586Asp Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Gly586Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Gly616Arg Multiple submitters SCN9A-related neuropathic pain syndromes ⚠
  • p.Gly69Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly884Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Gly8Ala Multiple submitters Inborn genetic diseases ⚠
  • p.His1041Asp Multiple submitters Inborn genetic diseases ⚠
  • p.His1041Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.His273Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.His619Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1024Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1091Val Multiple submitters SCN9A-related disorder ⚠
  • p.Ile1238Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1410Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1453Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1456Met Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile1457Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1508Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1521Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1555Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1580Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile162Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1660Asn Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile1660Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1896Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile1917Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile196Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile239Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile23Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ile262Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile394Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile450Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile564Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile577Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile62Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile62Val Multiple submitters primary erythermalgia ⚠
  • p.Ile695Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile740Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile796Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile89Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ile89Met Multiple submitters primary erythermalgia ⚠
  • p.Ile954Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile97Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile990Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile990Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ile999Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu1043Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu106Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu1070Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu1200His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu1200Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu1242Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu1295Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu1373Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu1634Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1634Pro Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu1802Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu1809Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu1823Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu1884Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu201Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu20Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu219Phe Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu22Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Leu271Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu286Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu427Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu500Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Leu680Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu722Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu748Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu75Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu776Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Leu887Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Lys1019Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Lys1054Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1383Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Lys1386Gln Multiple submitters primary erythermalgia ⚠
  • p.Lys1565Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Lys1719Asn Multiple submitters generalized epilepsy with febrile seizures plus, type 7
  • p.Lys17Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1976Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Lys1988Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys31Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Lys40Glu Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Lys482Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Lys494Asn Multiple submitters paroxysmal extreme pain disorder ⚠
  • p.Lys666Asn Multiple submitters paroxysmal extreme pain disorder ⚠
  • p.Lys667Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys720Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Lys735Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys893Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Met1101Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met145Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Met1533Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Met1543_Thr1544delinsIleAsp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
  • p.Met1543Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Met1655Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Met1863Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met1863Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Met1863Thr Multiple submitters primary erythermalgia ⚠
  • p.Met1868Leu Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Met1932Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Met403Leu Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive ⚠
  • p.Met426Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met638Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Met768Ile Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Met932Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Met952Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Phe1155Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Phe1197Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Phe1738Val Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Phe317Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Phe61Tyr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Phe717Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Phe772Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Phe783Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Phe88Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Phe98Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1083Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro111Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro1133Leu Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Pro1145Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro1722Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro1733Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro1791Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro1872Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1872Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro187Leu Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Pro187Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro5Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro609Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro67Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro712Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro712Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro767Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Pro7Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Pro80Ser Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive ⚠
  • p.Ser1064Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ser1074Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1108Gly Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ser1112Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1112Ile Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ser1172Pro Multiple submitters Inborn genetic diseases
  • p.Ser1357Leu Multiple submitters generalized epilepsy with febrile seizures plus, type 7 ⚠
  • p.Ser1398Phe Multiple submitters channelopathy-associated congenital insensitivity to pain, autosomal recessive ⚠
  • p.Ser1430Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ser1803Cys Multiple submitters primary erythermalgia ⚠
  • p.Ser1853Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Ser1892Tyr Multiple submitters Inborn genetic diseases ⚠