| | | | Cranioectodermal dysplasia 4 | |
| | | Single nucleotide variant (intron variant) | Cranioectodermal dysplasia 4 | |
| | | Single nucleotide variant (nonsense) | Cranioectodermal dysplasia 4 | |
| | | Single nucleotide variant (splice donor variant) | Cranioectodermal dysplasia 4 | |
| | | Deletion (frameshift variant) | Cranioectodermal dysplasia 4 | |
| | | Duplication (intron variant) | Senior-Loken syndrome 8 +3 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +5 more | |
| | | Single nucleotide variant (intron variant) | Spermatogenic failure 72 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 8 +5 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 13 +4 more | |
| | | Single nucleotide variant (intron variant) | Spermatogenic failure 72 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (intron variant) | Spermatogenic failure 72 +4 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 72 +5 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 13 +5 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 13 +4 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +5 more | |
| | | Single nucleotide variant (nonsense) | Senior-Loken syndrome 8 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 13 +4 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 72 +4 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Senior-Loken syndrome 8 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +5 more | |
| | | Microsatellite (frameshift variant) | Senior-Loken syndrome 8 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Nephronophthisis 13 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Spermatogenic failure 72 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Spermatogenic failure 72 +4 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Deletion (intron variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 13 +4 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 13 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +5 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 72 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +6 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spermatogenic failure 72 +4 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +5 more | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 72 +4 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +5 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +4 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 8 +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 4 | |
| | | Deletion (intron variant) | Cranioectodermal dysplasia 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 4 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cranioectodermal dysplasia 4 +5 more | |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cranioectodermal dysplasia 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Asphyxiating thoracic dystrophy 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cranioectodermal dysplasia 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cranioectodermal dysplasia 4 +1 more | |
| | | Single nucleotide variant (intron variant) | WDR19-related disorder +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 5 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cranioectodermal dysplasia 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Asphyxiating thoracic dystrophy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | WDR19-related disorder +4 more | GConflicting classifications of pathogenicity |