| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | |
| | GOSR2, LRRC37A2 (G144W +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy +2 more | |
| | GOSR2, LRRC37A2 (N170S +5 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy type 6 +3 more | |
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