| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 5 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Joubert syndrome 5 +15 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +10 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +8 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 10 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 6 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 10 +10 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +10 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +7 more | |