| 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 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Chronic osteomyelitis +1 more | GUncertain significance; association |
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