| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +1 more | |
| | | Single nucleotide variant (nonsense) | WDR35-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 2 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene