| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more | GPathogenic/Likely pathogenic |
| | RTEL1, RTEL1-TNFRSF6B (R778Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +2 more | |
| | RTEL1, RTEL1-TNFRSF6B (Q682E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 | |
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