| | | Single nucleotide variant (splice donor variant) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Insertion (inframe_insertion) | Joubert syndrome 9 | |
| | | Deletion (inframe_indel) | Joubert syndrome 9 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 9 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 9 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +1 more | |
| | | Single nucleotide variant (nonsense) | CC2D2A-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant) | Ciliopathy +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 9 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +5 more | |
| | | Duplication (frameshift variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 9 | |
| | | Duplication (nonsense) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 6 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Joubert syndrome 9 +2 more | |
| | | Microsatellite (splice donor variant) | Joubert syndrome 9 +2 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 9 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Joubert syndrome 9 +17 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 | |
| | | Single nucleotide variant (missense variant) | CC2D2A-related condition +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 | |
| | | Microsatellite (frameshift variant) | Meckel-Gruber syndrome +4 more | GConflicting classifications of pathogenicity |