| | | Copy number gain | See cases | |
| | LOC129935810, LOC129935811 +1686 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935713, LOC129935714 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC122889013, LOC122889014 +629 more | Copy number gain | See cases | |
| | LOC126806558, LOC126806559 +309 more | Copy number gain | See cases | |
| | LOC122889013, LOC122889014 +575 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | 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) | not provided +1 more | |
| | | 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 (non-coding transcript 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 (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) | 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) | 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 (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +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 | |