| | | Copy number loss | Nephronophthisis 1 | |
| | LOC126806305, LOC126806306 +5 more | Copy number loss | Nephronophthisis 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Nephronophthisis 1 | |
| | | Duplication (frameshift variant) | Nephronophthisis 1 | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis 1 | |
| | LOC126806305, LOC126806306 +2 more | Copy number loss | Nephronophthisis 1 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome with renal defect +3 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 1 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome with renal defect +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +3 more | |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 1 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +4 more | |
| | | Copy number loss | Joubert syndrome with renal defect +2 more | |
| | | Copy number loss | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis +4 more | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Senior-Loken syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome with renal defect +3 more | |
| | | Microsatellite (splice donor variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Deletion | Nephronophthisis 1 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome with renal defect +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome with renal defect +3 more | |
| | | Single nucleotide variant (intron variant +1 more) | Nephronophthisis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Senior-Loken syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome with renal defect +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome with renal defect +3 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant | Nephronophthisis 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +3 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome with renal defect +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +4 more | |
| | | Deletion (intron variant) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +3 more | |
| | | Copy number loss | Nephronophthisis 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome with renal defect +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome with renal defect +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 1 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome with renal defect +3 more | |
| | | Deletion (splice donor variant) | Nephronophthisis | |
| | LOC126806306, LOC126806305 +5 more | Deletion | Senior-loken syndrome 3 +1 more | |
| | | Deletion (frameshift variant) | Nephronophthisis 1 | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome with renal defect +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis +4 more | GConflicting classifications of pathogenicity |