| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 38 | |
| | | Deletion (frameshift variant) | Joubert syndrome 38 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Joubert syndrome 38 +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 38 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 38 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 38 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Short-rib thoracic dysplasia 21 without polydactyly +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 38 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Joubert syndrome 38 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Joubert syndrome 38 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | KIAA0753-related disorder +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofaciodigital syndrome XV +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 38 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |