| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FANCI, POLG +1 more (Q1236H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +12 more | |
| | | Single nucleotide variant (synonymous variant) | POLG-Related Spectrum Disorders +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +11 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +12 more | |
| | | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
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