| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPR2, SPAG8 (T907M +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | NPR2, SPAG8 (R957H +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type | |
| | NPR2, SPAG8 (D1010G +1 more) | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 1, Maroteaux type | |
| | NPR2, SPAG8 (L455del +2 more) | Deletion (inframe_deletion +1 more) | Acromesomelic dysplasia 1, Maroteaux type | |
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