| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130059309, TERF2 (G116E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130059309, TERF2 (A88V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130059309, TERF2 (G71E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130059309, TERF2 (A68V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130059309, TERF2 (R60L) | Single nucleotide variant (missense variant) | not specified | |
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