| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | LOC129935841, LOC129935842 +1148 more | Copy number gain | See cases | |
| | LOC129935871, LOC129935872 +986 more | Copy number gain | See cases | |
| | LOC126806566, LOC126806567 +393 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935973, LOC129935974 +576 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935973, LOC129935974 +455 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Perlman syndrome | |
| | | Single nucleotide variant | Perlman syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Perlman syndrome | |
| | | Deletion (5 prime UTR variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | DIS3L2-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Indel (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Deletion (frameshift variant +1 more) | Perlman syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Deletion (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Deletion (frameshift variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Deletion (frameshift variant +1 more) | Perlman syndrome | |