| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | SCN1A-AS1, SCN9A (Q875E +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Primary erythromelalgia | |
| | SCN1A-AS1, SCN9A (L823R +1 more) | Single nucleotide variant (missense variant) | Primary erythromelalgia | |
| | SCN1A-AS1, SCN9A (V810M +1 more) | Single nucleotide variant (missense variant) | Generalized epilepsy with febrile seizures plus, type 7 +7 more | GConflicting classifications of pathogenicity |
| | SCN1A-AS1, SCN9A (T773S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | SCN1A-AS1, SCN9A (I720K +1 more) | Single nucleotide variant (missense variant) | Primary erythromelalgia +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paroxysmal extreme pain disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary erythromelalgia +7 more | |
| | | Single nucleotide variant (nonsense) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +1 more | |
Click to view in NCBI Gene