| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | GOSR2, LOC126862578 +1 more (I23V +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | GOSR2, LOC126862578 +1 more (R69Q +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | GOSR2, LOC126862578 +1 more (V76I +2 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy +1 more | |
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