| | | Deletion (frameshift variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Deletion (splice donor variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Duplication (frameshift variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 1 | |
| | | Duplication (frameshift variant) | Mitochondrial DNA depletion syndrome 1 | |
| | LOC130067862, SCO2 +1 more (S362*) | Single nucleotide variant (nonsense +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 1 | |
| | | Duplication (splice donor variant) | Mitochondrial DNA depletion syndrome 1 | |
| | SCO2, LOC130067862 +1 more (L347P) | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | SCO2, TYMP (Q482* +1 more) | Single nucleotide variant (nonsense +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 | |
| | LOC130067862, SCO2 +1 more (P396L +1 more) | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 1 | |
| | | Duplication (frameshift variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 | |
| | LOC130067862, SCO2 +1 more (Q370L) | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | POLG, POLGARF (T251I +1 more) | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome 1 +5 more | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial DNA depletion syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | |
| | TYMP, LOC130067862 +1 more | Deletion (inframe_deletion +2 more) | Mitochondrial DNA depletion syndrome 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Mitochondrial DNA depletion syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Deletion (frameshift variant) | Mitochondrial DNA depletion syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 | |
| | TYMP, LOC130067862 +1 more (C361R) | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 4b +6 more | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC130067862, TYMP (G318R) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC130067862, SCO2 +1 more (Q461R +1 more) | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | LOC130067862, SCO2 +1 more (A473S +1 more) | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | LOC130067862, TYMP (W315*) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | LOC130067862, SCO2 +1 more (Q350*) | Single nucleotide variant (nonsense +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy +5 more | |
| | LOC130067862, SCO2 +1 more (L334R) | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Deletion (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial DNA depletion syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (nonsense) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (splice donor variant) | Progressive sclerosing poliodystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | LOC130067862, SCO2 +1 more (W437fs +1 more) | Duplication (frameshift variant +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | SCO2, TYMP (Q481* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 4b +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | POLG, POLGARF +1 more (I1223V) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |