| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | ATAD3C, AURKAIP1 +520 more | Copy number loss | See cases | |
| | LOC129929144, LOC129929145 +458 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | TMEM201, TMEM240 +806 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929181, LOC129929182 +401 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929186, LOC129929187 +577 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC112577578, LOC112577579 +199 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +804 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | AADACL3, AADACL4 +500 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +505 more | Copy number loss | See cases | |
| | LOC129929300, LOC129929301 +730 more | Copy number loss | See cases | |
| | LOC108281186, LOC121677385 +4 more | Copy number gain | See cases | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | NPHP4-related condition | |
| | | 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 +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 (missense variant +1 more) | not provided | |
| | | 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) | NPHP4-related condition +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) | Inborn genetic diseases +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) | NPHP4-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | NPHP4-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 +2 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) | NPHP4-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | NPHP4-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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 +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 | |