Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
Hearing Impairment 3 (DFNB3, MYO15A) | Hearing loss | Autosomal Recessive | 17p11.2 | Splice site | MYO15A | c.9518-2A>G | - | - | Khan et al., 2019/2019 |
Hearing Impairment 3 (DFNB3, MYO15A) | Hearing loss | Autosomal Recessive | 17p11.2 | Missense | MYO15A | 8222T>C | Phe2741Ser | Amino Acid Substitution | 0/Shafique et al., 2014 |
Hearing Impairment 3 (DFNB3, MYO15A) | Hearing loss | Autosomal Recessive | 17p11.2 | Nonsense | MYO15A | 8767C>T | Arg2923* | Premature Termination | 0/Shafique et al., 2014 |