| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant) | Dyskeratosis congenita, autosomal dominant 1 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant) | Dyskeratosis congenita, autosomal dominant 1 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant) | Dyskeratosis congenita, autosomal dominant 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 +1 more | |
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