| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | |
| | | Microsatellite (inframe_deletion +1 more) | Nephronophthisis +8 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 6 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 5 +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 10 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Meckel-Gruber syndrome +11 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +9 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +10 more | |
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 4 +9 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +13 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 6 +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Joubert syndrome 5 +15 more | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome 14 +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +10 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 4 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 +8 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +9 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome 14 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +5 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +8 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +9 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 10 +8 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +9 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 10 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 6 +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Renal dysplasia and retinal aplasia +11 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 1 +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +11 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not specified +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Meckel syndrome, type 4 +10 more | |
| | | Deletion (splice donor variant) | Bardet-Biedl syndrome 14 +9 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +9 more | |
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 4 +8 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 10 +10 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 6 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Blindness +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |