| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.2968G>A | Asp990Asn | Amino acid substitution | 2022/Doll et al. 2020 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.4688T>C | Leu1563Pro | Amino acid substitution | 2020/Doll et al. 2020 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.2866G>A | Glu956Lys | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Nonsense | CDH23 | c.3481C>T | Arg1161* | PTC | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Nonsense | CDH23 | c.3880C>T | Gln1294* | PTC | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.4892C>T | Ala1631Val | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.5149T>C | Cys1717Arg | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Splice site | CDH23 | c.6049+1G>A | p.? | Exon skipping | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Splice site | CDH23 | c.6050–9G>A | p.? | Exon skipping | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.6083A>C | Asp2028Ala | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.6133G>A | Asp2045Asn | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.6202A>C | Thr2068Pro | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.6604G>A | Asp2202Asn | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Missense | CDH23 | c.7814A>G | Asn2605Ser | Amino acid substitution | 2017/Naz et al. 2017 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Deletion | CDH23 | c.7987_7989delTTC | Phe2664del | Deletion of Phe2664 | 2019/Richard et al. 2019 |
| Hearing impairment 12 (DFNB12, CDH23) | Hearing loss, profound prelingual sensorineural | Autosomal Recessive | 10q22.1 | Insertion | CDH23 | c.8351_8352insCGAT | Leu2785Aspfs*43 | Frameshift and PTC | 2019/Richard et al. 2019 |
