| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 24 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +3 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 +2 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 24 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel syndrome, type 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 24 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 24 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Cutis laxa, recessive +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cutis laxa, recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cutis laxa, recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 8 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 8 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cutis laxa, recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 24 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Meckel syndrome, type 8 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 24 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel syndrome, type 8 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Joubert syndrome 24 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 +6 more | |
| | | Duplication (frameshift variant) | Meckel syndrome, type 8 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 24 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 24 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 24 +4 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 24 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 24 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 24 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 24 +4 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Meckel syndrome, type 6 +6 more | GPathogenic/Likely pathogenic |