| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Achondrogenesis, type IA | |
| | NRDE2, PSMC1 (L162I +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | NRDE2, PSMC1 (F280L +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | SERPINA10, SERPINA11 +74 more | Copy number loss | Deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Copy number gain | See cases | |
| | LOC130056647, LOC130056648 +1203 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132090296, LOC132090297 +1422 more | Copy number gain | See cases | |
| | LOC130056481, LOC130056482 +1072 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |