| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | COACH syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | COACH syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +9 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +8 more | |
| | RPGRIP1L (P1141fs +3 more) | Microsatellite (frameshift variant) | Meckel-Gruber syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | COACH syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COACH syndrome 1 | |
| | | Single nucleotide variant (missense variant) | COACH syndrome 1 | |
| | | Single nucleotide variant (missense variant) | RPGRIP1L-related disorder +3 more | |