| | | Deletion | Perlman syndrome | |
| | | Deletion | Perlman syndrome | |
| | | Duplication | Perlman syndrome | |
| | | Duplication | Perlman syndrome | |
| | | Duplication | Perlman syndrome | |
| | | Duplication | Perlman syndrome | |
| | | Deletion | Perlman syndrome | |
| | | Deletion | Perlman syndrome | |
| | | Deletion | Perlman syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Perlman syndrome | |
| | | Deletion (frameshift variant +1 more) | Perlman syndrome | |
| | | Deletion (frameshift variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (non-coding transcript 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 (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +2 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 | |
| | | Deletion (intron variant) | 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 +2 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 +2 more) | Perlman syndrome | |
| | | Duplication (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +2 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 +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 (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Deletion (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +2 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 +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +2 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 +2 more) | Perlman syndrome | |
| | | Indel (missense variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Deletion (intron variant) | 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 | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Perlman syndrome | |
| | | Deletion (intron variant) | Perlman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Perlman syndrome | |