| | | Single nucleotide variant (3 prime UTR variant) | Short rib-polydactyly syndrome +1 more | |
| | | Microsatellite (3 prime UTR variant) | Short rib-polydactyly syndrome +1 more | |
| | | Duplication (3 prime UTR variant) | Short rib-polydactyly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Short rib-polydactyly syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Cranioectodermal dysplasia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Short rib-polydactyly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Short rib-polydactyly syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Connective tissue disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia +2 more | |
| | LOC126806810, IFT122 (R738Q +6 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia +1 more | |
| | | Duplication | Cranioectodermal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Cranioectodermal dysplasia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +4 more | |
| | | Duplication (3 prime UTR variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cranioectodermal dysplasia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cranioectodermal dysplasia +2 more | |