Episodic pain syndrome, familial, 2: genes and variants
Explore variant evidence for Episodic pain syndrome, familial, 2 across 1 analyzed protein (SCN10A). Linked ClinVar records include 1 pathogenic or likely pathogenic variants, 45 variants of uncertain significance and 34 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Episodic pain syndrome, familial, 2
SCN10A: Sodium channel protein type 10 subunit alpha
The protein forms Nav1.8, a tetrodotoxin-resistant voltage-gated sodium channel found in excitable membranes. It helps generate sensory-neuron electrical signals and is especially important in mechanisms of neuropathic pain and inherited episodic pain.
1 ClinVar pathogenic / likely pathogenic and 79 uncertain variants in SCN10A have source records linked to Episodic pain syndrome, familial, 2. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Episodic pain syndrome, familial, 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SCN10A L744Q | 744 | II | Pathogenic / likely pathogenic (★) |
Diseases related to Episodic pain syndrome, familial, 2
- Amyotrophic lateral sclerosis, also linked to SCN10A
- Cardiac arrhythmia, also linked to SCN10A
- Brugada syndrome, also linked to SCN10A
- Epilepsy, also linked to SCN10A
- Focal epilepsy, also linked to SCN10A
- Migraine, also linked to SCN10A
- Lennox-Gastaut syndrome, also linked to SCN10A
Frequently asked questions
Which genes have records linked to Episodic pain syndrome, familial, 2?
This view contains 1 analyzed proteins: SCN10A. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 1 pathogenic or likely pathogenic variants, 45 variants of uncertain significance and 34 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 91 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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