| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bartter syndrome type IV | Renal, deafness & nonsyndromic nearing loss | Autosomal Recessive | 1p32.3 | Missense | BSND | 35T>C | Ile12Thr | Amino Acid Substitution | Iqbal et al., 2011/2011 |
