| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | RTEL1-TNFRSF6B, RTEL1 (R134C) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | RTEL1-related disorder +4 more | |
Click to view in NCBI Gene