| | | Copy number gain | See cases | |
| | LOC130060795, LOC130060796 +1753 more | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Renal tubular dysgenesis of genetic origin | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Renal tubular dysgenesis of genetic origin | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis +1 more | |
| | | Deletion (frameshift variant) | Renal tubular dysgenesis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Microsatellite (inframe_deletion +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | Renal tubular dysgenesis of genetic origin +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion +1 more) | Renal tubular dysgenesis +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Microvascular complications of diabetes, susceptibility to, 3 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Renal tubular dysgenesis +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ACE-related condition | |
| | | Deletion (frameshift variant +1 more) | ACE-related condition +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Renal tubular dysgenesis of genetic origin | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis | |
| | | Single nucleotide variant (synonymous variant) | Renal tubular dysgenesis +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | ACE-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ACE-related condition +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis | |
| | | Single nucleotide variant (missense variant +1 more) | ACE-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Renal tubular dysgenesis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Renal tubular dysgenesis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Microvascular complications of diabetes, susceptibility to, 3 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Renal tubular dysgenesis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis | |
| | | Single nucleotide variant (synonymous variant) | Renal tubular dysgenesis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis | |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Renal tubular dysgenesis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Renal dysplasia, cystic, susceptibility to +1 more | |
| | | Single nucleotide variant (intron variant) | Renal tubular dysgenesis +1 more | |
| | | Single nucleotide variant (intron variant) | Renal tubular dysgenesis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ACE-related condition | |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis +1 more | |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ACE-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Renal tubular dysgenesis +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Renal tubular dysgenesis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Renal tubular dysgenesis +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ACE-related condition | |
| | | Single nucleotide variant (missense variant) | Renal tubular dysgenesis of genetic origin +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ACE-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |