| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | NEK1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
Click to view in NCBI Gene