| | SCN1A-AS1, SCN9A (G1495R +1 more) | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | SCN1A-AS1, SCN9A (S1194G +1 more) | Single nucleotide variant (missense variant) | Primary erythromelalgia +2 more | |
| | SCN1A-AS1, SCN9A (Q1530* +1 more) | Single nucleotide variant (nonsense) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | | Indel (nonsense) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | SCN1A-AS1, SCN9A (W1168* +1 more) | Single nucleotide variant (nonsense) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | SCN1A-AS1, SCN9A (R657fs +1 more) | Deletion (frameshift variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | | Deletion (splice acceptor variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | | Indel (intron variant) | Primary erythromelalgia +2 more | |
| | | Deletion (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +3 more | |
| | | Single nucleotide variant (splice donor variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | SCN1A-AS1, SCN9A (V1747L +1 more) | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | SCN9A, SCN1A-AS1 (D1690G +1 more) | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | | Single nucleotide variant (splice acceptor variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | SCN1A-AS1, SCN9A (C1339R +1 more) | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | SCN1A-AS1, SCN9A (D1100G +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (nonsense) | Primary erythromelalgia +1 more | |
| | 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 | |
| | SCN1A-AS1, SCN9A (T1935R +1 more) | Single nucleotide variant (missense variant) | Primary erythromelalgia +6 more | |
| | 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 |
| | | Single nucleotide variant (missense variant) | Primary erythromelalgia +5 more | |
| | SCN1A-AS1, SCN9A (D736H +1 more) | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary erythromelalgia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary erythromelalgia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Primary erythromelalgia +2 more | |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Primary erythromelalgia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary erythromelalgia +4 more | |
| | SCN1A-AS1, SCN9A (D736V +1 more) | Single nucleotide variant (missense variant) | Paroxysmal extreme pain disorder +4 more | |
| | SCN1A-AS1, SCN9A (C1159Y +1 more) | Single nucleotide variant (missense variant) | Paroxysmal extreme pain disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary erythromelalgia +2 more | |
| | | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 more | |
| | SCN1A-AS1, SCN9A (I1080T +1 more) | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | SCN1A-AS1, SCN9A (R1367C +1 more) | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 more | |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy with febrile seizures plus, type 7 +1 more | |
| | SCN1A-AS1, SCN9A (M1582T +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (L1823F +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | 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 | |
| | 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 | |
| | SCN9A, SCN1A-AS1 (F772S +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +4 more | |
| | | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +6 more | |
| | 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 | |
| | | Single nucleotide variant (synonymous variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 more | |
| | SCN9A, SCN1A-AS1 (E1841A +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +3 more | |
| | SCN1A-AS1, SCN9A (W797* +1 more) | Single nucleotide variant (nonsense) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +3 more | |
| | SCN1A-AS1, SCN9A (S1792C +1 more) | Single nucleotide variant (missense variant) | Primary erythromelalgia +5 more | |
| | | Single nucleotide variant (synonymous variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy with febrile seizures plus, type 7 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal extreme pain disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary erythromelalgia +7 more | |
| | SCN1A-AS1, SCN9A (S1972I +1 more) | Single nucleotide variant (missense variant) | Generalized epilepsy with febrile seizures plus, type 7 +6 more | |
| | 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 | |
| | SCN9A, SCN1A-AS1 (N1929K +1 more) | Single nucleotide variant (missense variant) | Primary erythromelalgia +5 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant) | Primary erythromelalgia +5 more | |
| | 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 | |
| | | 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 | |
| | SCN1A-AS1, SCN9A (T1031I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | |
| | | Deletion (frameshift variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | SCN1A-AS1, SCN9A (R658H +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +7 more | GConflicting classifications of pathogenicity |
| | | 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 | |