| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Duplication (frameshift variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rod-cone dystrophy | |
| | | Deletion (splice donor variant) | Familial aplasia of the vermis +1 more | |
| | | | Leber congenital amaurosis | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | INPP5E-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | INPP5E-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 14 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 1 | |
| | | Duplication (frameshift variant +1 more) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 1 +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | INPP5E-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Joubert syndrome 1 +1 more | |
| | | Duplication (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | | Joubert syndrome 9 | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Orofaciodigital syndrome type 6 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Indel (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 1 | |