| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 1 | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Weill-Marchesani syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome | |
| | | Duplication (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (nonsense) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
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