| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Rothmund-Thomson syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Rothmund-Thomson syndrome type 1 | |
| | | Microsatellite (frameshift variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Copy number gain | See cases | |
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