| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SYNJ2BP, SYNJ2BP-COX16 (R142W) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SYNJ2BP, SYNJ2BP-COX16 (V133A) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SYNJ2BP, SYNJ2BP-COX16 (R86C) | Single nucleotide variant (missense variant) | not specified | |
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