| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +3 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder | |
| | | Single nucleotide variant (synonymous variant) | Connective tissue disorder | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder | |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 7 with or without polydactyly +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +3 more | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder | |
Click to view in NCBI Gene