| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | RTEL1, RTEL1-TNFRSF6B (R550C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Dyskeratosis congenita, autosomal recessive 5 | GConflicting classifications of pathogenicity |
| | RTEL1, RTEL1-TNFRSF6B (R998* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +5 more | |
| | RTEL1, RTEL1-TNFRSF6B (W1269C) | Single nucleotide variant (non-coding transcript variant +2 more) | Dyskeratosis congenita, autosomal recessive 5 | |
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