| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Waardenburg-Shah syndrome (WS4) | pigmentation,Deafness,musculoskeletal,Hirschsprung | Autosomal Recessive | 13q22.3 | Samesense | EDNRB | 831G>A | Leu277Leu | Jabeen et al., 2012/2012 | |
| Waardenburg-Shah syndrome (WS4) | pigmentation,Deafness,musculoskeletal,Hirschsprung | Autosomal Recessive | 13q22.3 | Missense | EDNRB | 1004G>C | Ser335Cys | Amino Acid Substitution | Jabeen et al., 2012/2012 |
| Waardenburg-Shah syndrome (WS4) | pigmentation,Deafness,musculoskeletal,Hirschsprung | Autosomal Recessive | 13q22.3 | Missense | EDNRB | 1082T>C | Ser361Leu | Amino Acid Substitution | Jabeen et al., 2012/2012 |
