| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC25A21, SLC25A21-AS1 (A13V) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC25A21, SLC25A21-AS1 (G21A) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC25A21, SLC25A21-AS1 (V7I) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLC25A21, SLC25A21-AS1 (V18L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC25A21, SLC25A21-AS1 (I17M) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | LOC126861920, LOC126861921 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC110120902, LOC111500315 +4 more | Copy number gain | See cases | |
| | LOC124995371, LOC126861919 +5 more | Copy number loss | See cases | |
| | LOC108281111, LOC110120901 +19 more | Copy number gain | See cases | |
| | BAZ1A, BAZ1A-AS1 +156 more | Copy number loss | See cases | |
| | LOC108281111, LOC110120902 +10 more | Copy number loss | See cases | |
| | LOC130055497, LOC130055498 +113 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FOXA1, LOC110120902 +10 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130055370, LOC130055371 +840 more | Copy number loss | See cases | |