| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Nonsense | CDH23 | 1114C>T | Gln372* | Premature Termination | Schultz et al., 2011/2011 |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Splice site | CDH23 | 2587+1G>A | Frame shift mutation | Bork et al., 2001/2001 | |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Nonsense | CDH23 | Arg1305* | Premature Termination | Bork et al., 2001/2001 | |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Insertion/Deletion | CDH23 | 3106_3106+11delinsTGGT | Gly1036delinsTrpCys | Schultz et al., 2011/2011 | |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | CDH23 | 6050-9G>A | Schultz et al., 2011/2011 | |||
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Splice site | CDH23 | 6050-1G>C | Schultz et al., 2011/2011 | ||
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Deletion | CDH23 | 6054_6074del | Val2019_Val2025del | Schultz et al., 2011/2011 | |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Deletion | CDH23 | 6845del | Asn2282Thrfs*91 | Frame shift mutation & PTC | Schultz et al., 2011/2011 |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Missense | CDH23 | 7198C>T | Pro2400Ser | Amino Acid Substitution | Schultz et al., 2011/2011 |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Missense | CDH23 | 8150A>G | Asp2717Gly | Amino Acid Substitution | Schultz et al., 2011/2011 |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Deletion | CDH23 | 8208_8209del | Val2737Alafs*2 | Frame shift mutation & PTC | Schultz et al., 2011/2011 |
| Usher Syndrome type 1D (CDH23) | Hearing loss, RP | Autosomal Recessive | 10q22.1 | Nonsense | CDH23 | c.? | Gln492* | PTC | 2001/Bork et al. 2001 |
