| | | Duplication | not specified | |
| | | Duplication | Lethal multiple pterygium syndrome | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | DIS3L2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | DIS3L2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | 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 (intron 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 (non-coding transcript 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 (intron 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 (intron 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 (non-coding transcript variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Perlman syndrome | |