| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +8 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 8 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +6 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 5 +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 7 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +7 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 7 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +5 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +6 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |