| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Usher Syndrome type 1 (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Missense | PCDH15 | 533A>G | Asp178Gly | Amino Acid Substitution | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1 (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Splice site | PCDH15 | 3717+1G>T | splicing error | Ahmed et al., 2008/2008 | |
| Usher Syndrome type 1 (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Nonsense | PCDH15 | 7C>T | Arg3* | Premature Termination | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1 (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Nonsense | PCDH15 | 1940C>G | Ser647* | Premature Termination | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1 (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Nonsense | PCDH15 | 2052C>A | Tyr684* | Premature Termination | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1 (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Deletion | PCDH15 | 2483delT | Glu829Lysfs*12 | Frame shift mutation & PTC | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1 (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Deletion | PCDH15 | 4257delA | Leu1419Phefs*99 | Frame shift mutation & PTC | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Missense | PCDH15 | 533A>G | Asp178Gly | Amino Acid Substitution | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Splice site | PCDH15 | 3717+1G>T | splicing error | Ahmed et al., 2008/2008 | |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Nonsense | PCDH15 | 7C>T | Arg3* | Premature Termination | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Nonsense | PCDH15 | 1940C>G | Ser647* | Premature Termination | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Nonsense | PCDH15 | 2052C>A | Tyr684* | Premature Termination | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Deletion | PCDH15 | 2483delT | Glu829Lysfs*12 | Frame shift mutation & PTC | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Deletion | PCDH15 | 4257delA | Leu1419Phefs*99 | Frame shift mutation & PTC | Ahmed et al., 2008/2008 |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Splice site | PCDH15 | IVS27+2A>G | Frame shift mutation | Ahmed et al., 2001/2001 | |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Nonsense | PCDH15 | 1927C>T | Arg643* | Premature Termination | Ahmed et al., 2003/2003 |
| Usher Syndrome type 1F (PCDH15) | Hearing loss, RP | Autosomal Recessive | 10q21.1 | Missense | PCDH15 | 1304A>C | Asp435Ala | Amino Acid Substitution | Saleha et al., 2016/2016 |
