| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129997381, EPM2A
+1 more (Q55K) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +4 more | |
| | EPM2A-DT, LOC129997381
+1 more (G48D) | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | EPM2A-DT, LOC129997381
+1 more (A46P) | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
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