| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129934925, CACNB4 (P15R) | Single nucleotide variant (missense variant) | Juvenile myoclonic epilepsy +5 more | GConflicting classifications of pathogenicity |
| | CACNB4, LOC129934925 (S2F) | Single nucleotide variant (missense variant) | Episodic ataxia type 5 +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene