| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) | Profound hearing impairment | Autosomal Recessive | 5q12.3-q14.1 | Splice site | TRIC, MARVELD2 | IVS3-1G>A | Cys395fs*396 | Frame shift mutation & PTC | 0/Riazuddin et al., 2006 |
| Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) | Profound hearing impairment | Autosomal Recessive | 5q12.3-q14.1 | Splice site | TRIC, MARVELD2 | IVS4+2T>C | Cys395fs*403 | Frame shift mutation & PTC | 0/Riazuddin et al., 2006 |
| Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) | Profound hearing impairment | Autosomal Recessive | 5q12.3-q14.1 | Splice site | TRIC, MARVELD2 | IVS4+2delTGAG | Lys445fs*461 | Frame shift mutation & PTC | 0/Riazuddin et al., 2006 |
| Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) | Prelingual hearing impairment | Autosomal Recessive | 5q12.3-q14.1 | Nonsense | TRIC, MARVELD2 | 1498C>T | Arg500* | Premature Termination | 0/Riazuddin et al., 2006 |
| Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) | Profound hearing impairment | Autosomal Recessive | 5q12.3-q14.1 | Deletion | TRIC, MARVELD2 | 8046 bp deletion | Cys395-Gln501del | 0/Nayak et al., 2015 | |
| Hearing Impaiment (MARVELD2) | Hearing loss | Autosomal Recessive | 5q13.2 | Substitution | MARVELD2 | c.1138C>T | p.(Gln380*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (MARVELD2) | Hearing loss | Autosomal Recessive | 5q13.2 | Insertion | MARVELD2 | c.1223_1224insA | p.(Glu408Argfs*4) | Frameshift | Richard et al., 2019/2019 |
