| | | Insertion (5 prime UTR variant +2 more) | Nephronophthisis 4 | |
| | | Microsatellite (5 prime UTR variant +3 more) | Nephronophthisis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Nephronophthisis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis 4 | |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis 4 | |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis 4 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis 4 | |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis 4 | |
| | | Duplication (intron variant +1 more) | Nephronophthisis 4 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Duplication (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 4 +2 more | |
| | | Deletion (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | NPHP4-related disorder +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (nonsense +2 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Indel (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Deletion (non-coding transcript variant +1 more) | Nephronophthisis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Deletion (frameshift variant +1 more) | Senior-Loken syndrome 4 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 | |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis 4 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Nephronophthisis 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | NPHP4-related disorder +3 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Deletion (intron variant) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | NPHP4-related disorder +3 more | |
| | | Deletion (5 prime UTR variant +2 more) | Nephronophthisis +2 more | |
| | | Duplication (frameshift variant +1 more) | Senior-Loken syndrome 4 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Nephronophthisis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Senior-Loken syndrome 4 +3 more | |
| | | Deletion (inframe_deletion +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Nephronophthisis 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |