| | LINC02168, LINC02169 +675 more | Copy number gain | See cases | |
| | LOC130059466, LOC130059467 +1738 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059197, LOC130059198 +575 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC128772417, LOC128772418 +939 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059153, LOC130059154 +1426 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ATP6V0D1, B3GNT9 +113 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Insertion (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome | |
| | | Insertion (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome | |
| | | Duplication (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome | |
| | | Deletion (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Insertion (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Duplication (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome, myopathic form | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | | Deletion (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |