| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | IFT122-related condition | |
| | | Single nucleotide variant (intron variant) | IFT122-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Microsatellite (frameshift variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (nonsense) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Deletion (frameshift variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (nonsense) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (nonsense) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 1 | |
| | | Duplication (frameshift variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 1 | |
| | | Microsatellite (frameshift variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | IFT122-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IFT122, LOC126806810 (T598I +9 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | IFT122, LOC126806810 (E499G +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 1 | |