| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 29 (DFNB29, CLDN14) | Prelingual hearing impairment | Autosomal Recessive | 21q22.13 | Nonsense | CLDN14 | 167G>A | Trp56* | Premature Termination | 0/Lee et al., 2012 |
| Hearing Impairment 29 (DFNB29, CLDN14) | Prelingual hearing impairment | Autosomal Recessive | 21q22.13 | Missense | CLDN14 | 242G>A | Arg81His | Amino Acid Substitution | 0/Lee et al., 2012 |
| Hearing Impairment 29 (DFNB29, CLDN14) | Prelingual hearing impairment | Autosomal Recessive | 21q22.13 | Missense | CLDN14 | 694G>A | Gly232Arg | Amino Acid Substitution | 0/Lee et al., 2012 |
| Hearing Impairment 29 (DFNB29, CLDN14) | Prelingual hearing impairment | Autosomal Recessive | 21q22.13 | Missense | CLDN14 | 254T>A | Val85Asp | Amino Acid Substitution | 0/Lee et al., 2012 |
| Hearing Impairment 29 (DFNB29, CLDN14) | Prelingual hearing impairment | Autosomal Recessive | 21q22.13 | Deletion | CLDN14 | 398delT | Met133Argfs*24 | Frame shift mutation & PTC | 0/Wilcox et al., 2001 |
| Hearing Impairment 29 (DFNB29, CLDN14) | Prelingual hearing impairment | Autosomal Recessive | 21q22.13 | Missense | CLDN14 | 281C>T | Ala94Val | Amino Acid Substitution | 0/Bashir et al., 2013 |
| Hearing Impairment 29 (DFNB29, CLDN14) | Prelingual hearing impairment | Autosomal Recessive | 21q22.13 | CLDN14 | 259_260TC>AT | Ser87Ile | Amino Acid Substitution | 0/Bashir et al., 2013 | |
| Hearing Impairment 29 (DFNB29, CLDN14) | Profound prelingual hearing impairment | Autosomal Recessive | 21q22.13 | Missense | CLDN14 | 256A>G | Ile86Val | Amino Acid Substitution | 0/Bashir et al., 2013 |
