| | | Single nucleotide variant (missense variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | POLG, POLGARF (T251I +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (nonsense) | Progressive sclerosing poliodystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +5 more | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +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 external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more | |
| | | Insertion (intron variant) | Mitochondrial DNA depletion syndrome 4b +4 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | 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 +6 more | |
| | | Deletion (frameshift variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 4b +6 more | |
| | | Single nucleotide variant (intron variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial DNA depletion syndrome 4b +4 more | |
| | | Single nucleotide variant (intron variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more | |
| | | 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) | Mitochondrial DNA depletion syndrome 4b +5 more | |
| | | Single nucleotide variant (intron variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +6 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | POLG-related disorder +7 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 +7 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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 1 +6 more | |
| | POLG, POLGARF +1 more (I1223V) | Single nucleotide variant (missense variant +1 more) | Progressive sclerosing poliodystrophy +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +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 external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | |
| | | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +1 more | |
| | | Single nucleotide variant (splice donor variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | POLG-related disorder +9 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +6 more | |
| | | Single nucleotide variant (splice donor variant) | POLG-related disorder +7 more | |
| | | Single nucleotide variant (missense variant) | neonatal seizures +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Progressive sclerosing poliodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | FANCI, POLG +1 more (A1217V) | Single nucleotide variant (missense variant +1 more) | POLG-Related Spectrum Disorders +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +8 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +7 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | |
| | | Microsatellite (inframe_insertion) | Inborn genetic diseases +8 more | |
| | | Microsatellite (inframe_deletion) | Mitochondrial DNA depletion syndrome 4b +10 more | |
| | | Microsatellite (inframe_deletion) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (non-coding transcript variant +1 more) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more | |