| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental delay +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (intron variant) | Cataract 49 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nephronophthisis 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Senior-Loken syndrome 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nephronophthisis 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nephronophthisis 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nephronophthisis 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Senior-Loken syndrome 4 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Duplication (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | NPHP4-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | NPHP4-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | NPHP4-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Deletion (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |