| | LOC130008916, LOC130008917 +4836 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 4 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 5 +4 more | |
| | | Microsatellite (3 prime UTR variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Deletion (3 prime UTR variant) | not provided +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +3 more | |
| | | Microsatellite (inframe_deletion +1 more) | Familial aplasia of the vermis +2 more | |
| | | Deletion (frameshift variant +1 more) | CEP290-related disorder +4 more | |
| | CEP290, RLIG1 (E1531K +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | | Duplication (3 prime UTR variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | | Duplication (inframe_insertion +2 more) | Nephronophthisis +2 more | |
| | | Microsatellite (frameshift variant +1 more) | Nephronophthisis +6 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Microsatellite (inframe_deletion +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 5 +8 more | GConflicting classifications of pathogenicity |
| | CEP290, RLIG1 (V1514A +1 more) | Single nucleotide variant (missense variant +1 more) | CEP290-related disorder | |
| | CEP290, RLIG1 (G2453E +1 more) | Indel (missense variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | CEP290, RLIG1 (E1510Q +1 more) | Single nucleotide variant (missense variant +1 more) | CEP290-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Duplication (frameshift variant +1 more) | Nephronophthisis +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Meckel-Gruber syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Deletion (frameshift variant +1 more) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +3 more | |
| | | Microsatellite (frameshift variant +1 more) | Meckel syndrome, type 4 +8 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Nephronophthisis +8 more | |
| | | Deletion (3 prime UTR variant +1 more) | Nephronophthisis +2 more | |
| | | Indel (nonsense +1 more) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis +7 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Retinal dystrophy | |
| | | Microsatellite (frameshift variant +1 more) | Leber congenital amaurosis 10 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +2 more | |
| | CEP290, RLIG1 (I2439T +1 more) | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Microsatellite (inframe_insertion +2 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Microsatellite (inframe_deletion +1 more) | Nephronophthisis +8 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Duplication (nonsense +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Duplication (frameshift variant +1 more) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Meckel-Gruber syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense +1 more) | Bardet-Biedl syndrome 14 +8 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion +2 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 14 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 5 +10 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Familial aplasia of the vermis +2 more | |
| | | Duplication (nonsense +1 more) | Bardet-Biedl syndrome 14 +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis +2 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy | |
| | CEP290, RLIG1 (S1479* +1 more) | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 | |
| | CEP290, RLIG1 (N1475D +1 more) | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | CEP290, LOC129390514 +2 more | Deletion | Familial aplasia of the vermis +2 more | |
| | CEP290, RLIG1 (E1474* +1 more) | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Duplication (frameshift variant +1 more) | Nephronophthisis +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Deletion (frameshift variant +1 more) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 +10 more | GPathogenic/Likely pathogenic |
| | CEP290, RLIG1 (K1468Q +1 more) | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | CEP290-related disorder +3 more | |
| | | Duplication (3 prime UTR variant +1 more) | Familial aplasia of the vermis +2 more | |