| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 | |
| | | Single nucleotide variant (missense variant +2 more) | Joubert syndrome 6 | |
| | | Deletion (frameshift variant +1 more) | Meckel syndrome, type 3 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 3 +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 6 +7 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 6 +7 more | |
| | | Duplication (intron variant) | RHYNS syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | RHYNS syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 6 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Meckel syndrome, type 3 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | COACH syndrome 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | RHYNS syndrome +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +9 more | |
| | | Single nucleotide variant (nonsense +1 more) | TMEM67-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | RHYNS syndrome +9 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant +2 more) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +7 more | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 | |
| | | Single nucleotide variant (nonsense +1 more) | COACH syndrome 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Joubert syndrome 6 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | RHYNS syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 | |
| | | Deletion (splice donor variant) | Nephronophthisis 11 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (genic downstream transcript variant) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | COACH syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis 11 +7 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 14 +8 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 6 +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +9 more | |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 6 +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 6 +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +9 more | |
| | | Single nucleotide variant (missense variant +2 more) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (intron variant) | COACH syndrome 1 +8 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis 11 +4 more | GConflicting classifications of pathogenicity |