| | SCN1A-AS1, SCN9A (W1168* +1 more) | Single nucleotide variant (nonsense) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | SCN9A-related condition | |
| | | Single nucleotide variant (synonymous variant) | SCN9A-related condition | |
| | | Deletion (intron variant) | SCN9A-related condition | |
| | | Single nucleotide variant (intron variant) | SCN9A-related condition | |
| | SCN1A-AS1, SCN9A (K1790E +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (V1327L +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (D1729N +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (E1144K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (L1231V +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (N1721K +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (M679T +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (S1792F +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (P1487L +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Duplication (frameshift variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (S1759T +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (I1746del +1 more) | Microsatellite (inframe_deletion +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Deletion (nonsense +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (G1626E +1 more) | Single nucleotide variant (missense variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (Q1413K +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (I1885T +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (T1118R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (M1856V +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (A1033D +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (L1814F +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Microsatellite (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (F1194S +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (C884Y +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (S1112R +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (T994A +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Duplication (frameshift variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (E1061G +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (Y1416D +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (C1154F +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (R1973G +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (L1926S +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (I786V +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (L1331V +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Duplication (splice acceptor variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (S1949* +1 more) | Duplication (nonsense +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (E1055D +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (T1129P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (D1804N +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (R1973I +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (P1868A +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (F1506L +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (M1363L +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (H1039Y +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (F1635L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |