| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130055403, TINF2 (V49A) | Single nucleotide variant (missense variant) | Dyskeratosis congenita | |
| | LOC130055403, TINF2 (A43T) | Single nucleotide variant (missense variant) | Dyskeratosis congenita | |
| | LOC130055403, TINF2 (G25A) | Single nucleotide variant (missense variant) | TINF2-related condition +4 more | |
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