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| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Lymphedema Hereditary Type 1B | chronic swelling of the extremities | Autosomal Dominant | 6q16.2?q22.1 | - | - | - | - | - | 0/Malik & Grzeschik, 2008 |