| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PIEZO2-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch +4 more | |
| | | Single nucleotide variant (intron variant) | Gordon syndrome +4 more | |
| | | Deletion (intron variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +4 more | |
Click to view in NCBI Gene