| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | |
| | LOC130009053, ZCCHC8 (D513E +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130009053, ZCCHC8 (A276T +3 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ZCCHC8, LOC130009053 (V272A +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130009053, ZCCHC8 (A514S +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130009053, ZCCHC8 (L517P +3 more) | Single nucleotide variant (missense variant) | not provided | |
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