| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Seizure | |
| | | Deletion | Brain-lung-thyroid syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Complex | Parkinson disease, late-onset | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ARHGAP5-AS1, DTD2 +35 more | Deletion | Mitochondrial complex I deficiency | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861917, LOC126861918 +225 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112214170, LOC112214171 +840 more | Copy number loss | See cases | |