| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +4 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 7 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +4 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +4 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 8 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +7 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 8 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Meckel syndrome, type 5 +5 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) | Nephronophthisis 8 +5 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +5 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +5 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 8 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Meckel syndrome, type 5 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 7 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 7 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +6 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 8 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Meckel syndrome, type 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +5 more | GConflicting classifications of pathogenicity |