| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | POLH, POLR1C (I272T +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | POLH, POLR1C (P418del +1 more) | Microsatellite (inframe_deletion +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | POLH, POLR1C (A469V +1 more) | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | POLH, POLR1C (Q400H +1 more) | Single nucleotide variant (missense variant +1 more) | POLH-related disorder +3 more | |
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