| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Kindler Syndrome (FERMT1) | Kindler Syndrome | Autosomal Recessive | 20p12.3 | Duplication | FERMT1 | c.676dup C | p. Gln226fs*16 | Frameshift | Khan et al. 2021/2021 |
