| | | Single nucleotide variant (5 prime UTR variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |