| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 20q13.13qter duplication | |
| | LOC130066240, LOC130066241 +553 more | Copy number gain | See cases | |
| | LOC121627913, LOC121853014 +175 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066376, LOC130066377 +464 more | Copy number gain | See cases | |
| | PRELID3B, SLMO2-ATP5E (G150E +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PRELID3B, SLMO2-ATP5E (R157Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PRELID3B, SLMO2-ATP5E (I111T +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PRELID3B, SLMO2-ATP5E (D107G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PRELID3B, SLMO2-ATP5E (F70L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PRELID3B, SLMO2-ATP5E (M29V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | LOC130066279, PRELID3B +1 more (E7G) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Duplication | Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |