| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Epilepsy, familial focal, with variable foci 2 | |
| | NPR2, SPAG8 (R989Q +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type | |
| | NPR2, SPAG8 (R989L +1 more) | Single nucleotide variant (missense variant +1 more) | NPR2-related disorder +3 more | GPathogenic/Likely pathogenic |
| | NPR2, SPAG8 (R1020Q +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial focal, with variable foci 2 | |
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