Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | | Dyskeratosis congenita, autosomal recessive 5 | |
| | RTEL1, RTEL1-TNFRSF6B (A645T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal dominant 4 | |
| | RTEL1, RTEL1-TNFRSF6B (R1010* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
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