| | | Single nucleotide variant (intron variant) | Joubert syndrome 5 +3 more | |
| | | Indel (inframe_indel) | Leber congenital amaurosis 10 +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +6 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +7 more | |
| | | Microsatellite (frameshift variant) | Meckel syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | not specified +8 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +7 more | |
| | | Deletion (intron variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +7 more | |
| | | Microsatellite (intron variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +7 more | |
| | | Microsatellite (intron variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 4 +7 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 4 +7 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +7 more | |
| | | Insertion (intron variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +7 more | |
| | | Deletion (intron variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (splice donor variant) | CEP290-related disorder +8 more | |
| | | Microsatellite (inframe_deletion) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +7 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (splice donor variant) | Meckel syndrome, type 4 +7 more | |
| | | Microsatellite (inframe_deletion) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Deletion (frameshift variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (splice donor variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +7 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 10 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (missense variant) | CEP290-related disorder +8 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +7 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +7 more | |
| | | Duplication (nonsense +1 more) | Bardet-Biedl syndrome 14 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 10 +7 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +7 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 6 +3 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Meckel syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +8 more | |
| | | Deletion (inframe_deletion) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +3 more | |
| | CEP290, LOC129390514 (V2093I) | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +3 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (nonsense) | Senior-Loken syndrome 6 +4 more | |
| | | Duplication (intron variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 10 +7 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis +7 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis +7 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 6 +7 more | |
| | | Single nucleotide variant (synonymous variant) | Senior-Loken syndrome 6 +7 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 6 +7 more | |
| | | Single nucleotide variant (synonymous variant) | CEP290-related disorder +8 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (synonymous variant) | CEP290-related disorder +8 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome 14 +7 more | |
| | | Deletion (frameshift variant +1 more) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 10 +7 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome 14 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Meckel syndrome, type 4 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +8 more | |
| | | Duplication (frameshift variant) | Nephronophthisis +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 10 +8 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +7 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |