| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | |
| | LOC110806263, TERT (L38fs) | Deletion (frameshift variant +1 more) | Interstitial lung disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary fibrosis | |
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