| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Kindler Syndrome (FERMT1) | blistering,poikiloderma,skin atrophy etc | Autosomal Recessive | 20p12.3 | Insertion | FERMT1 (KIND1) | 676insC | Gln226fs*16 | Frame shift mutation & PTC | Shaiq et al.,2012/2012 |
