| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | LOC129935966, LOC129935967 +630 more | Copy number gain | See cases | |
| | LOC132088828, LOC132088829 +576 more | Copy number gain | See cases | |
| | LOC129935965, LOC129935966 +455 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090688, LOC132090689 +325 more | Copy number loss | See cases | |
| | LOC126806577, LOC126806578 +334 more | Copy number loss | See cases | |
| | HDAC4, HDAC4-AS1 +334 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC122889015, LOC122889016 +287 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935970, LOC129935971 +251 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Primary hyperoxaluria, type I | |
| | | Copy number gain | See cases | |
| | LOC129936021, LOC129936022 +144 more | Copy number loss | See cases | |
| | LOC110121227, LOC110599582 +143 more | Copy number loss | See cases | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Deletion (genic downstream transcript variant) | Schizophrenia | |
| | | Deletion (genic downstream transcript variant) | Schizophrenia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |