| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (no sequence alteration +1 more) | not provided +2 more | |
| | SCN1A-AS1, SCN9A (L858H +1 more) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | SCN1A-AS1, SCN9A (I848T +1 more) | Single nucleotide variant (missense variant) | SCN9A-related peripheral neuropathies associated with increased pain +3 more | |
| | | Single nucleotide variant (missense variant) | Inherited Erythromelalgia +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy with febrile seizures plus, type 7 +2 more | |
| | | Duplication (frameshift variant) | Neuropathy, hereditary sensory, type 2C +1 more | |
| | | Deletion (frameshift variant +1 more) | Neuropathy, hereditary sensory, type 2C +2 more | |
| | | Deletion (frameshift variant +1 more) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Duplication (frameshift variant +1 more) | Pseudohypoaldosteronism type 2C +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Duplication (nonsense +1 more) | Inborn genetic diseases | |
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