| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 42 (DFNB42, ILDR1) | Prelingual hearing impairment | Autosomal Recessive | 3q13.31-q22.3 | Nonsense | ILDR1 | 1135G>T | Glu379* | Premature Termination | 0/Borck et al., 2011 |
| Hearing Impairment 42 (DFNB42, ILDR1) | Profound prelingual hearing impairment | Autosomal Recessive | 3q13.31-q22.1 | Missense | ILDR1 | 3G>A | Met1? | 0/Borck et al., 2011 | |
| Hearing Impairment 42 (DFNB42, ILDR1) | Profound prelingual hearing impairment | Autosomal Recessive | 3q13.31-q22.1 | Deletion | ILDR1 | 59-5_88del | exon 2 del | 0/Borck et al., 2011 | |
| Hearing Impairment 42 (DFNB42, ILDR1) | Profound prelingual hearing impairment | Autosomal Recessive | 3q13.31-q22.1 | Missense | ILDR1 | 290G>A | Arg97Gln | Amino Acid Substitution | 0/Borck et al., 2011 |
| Hearing Impairment 42 (DFNB42, ILDR1) | severe to profound hearing loss | Autosomal Recessive | 3q13.31-q22.1 | Deletion | ILDR1 | 411delG | Trp137Cysfs*25 | Frame shift mutation & PTC | 0/Borck et al., 2011 |
| Hearing Impairment 42 (DFNB42, ILDR1) | Profound prelingual hearing impairment | Autosomal Recessive | 3q13.31-q22.1 | Missense | ILDR1 | 1387C>T | Arg463Cys | Amino Acid Substitution | 0/Borck et al., 2011 |
| Hearing Impairment 42 (DFNB42, ILDR1) | Profound prelingual hearing impairment | Autosomal Recessive | 3q13.31-q22.1 | Splice site | ILDR1 | 499+1G>A | 0/Borck et al., 2011 | ||
| Hearing Impairment 42 (DFNB42, ILDR1) | Profound prelingual hearing impairment | Autosomal Recessive | 3q13.31-q22.1 | Deletion | ILDR1 | 1032delG | Thr345Profs*20 | Frame shift mutation & PTC | 0/Borck et al., 2011 |
| Hearing Impairment 42 (DFNB42, ILDR1) | Profound prelingual hearing impairment | Autosomal Recessive | 3q13.31-q22.1 | Deletion | ILDR1 | 1180delG | Glu394Serfs*15 | Frame shift mutation & PTC | 0/Borck et al., 2011 |
| Hearing Impairment 42 (DFNB42, ILDR1) | Profound prelingual hearing impairment | Autosomal Recessive | 3q13.31-q22.1 | Missense | ILDR1 | 1358G>A | Arg453Gln | Amino Acid Substitution | 0/Borck et al., 2011 |
| Hearing Impaiment (ILDR1) | Hearing loss | Autosomal Recessive | 3q13.33 | Delation | ILDR1 | c.900delG | p.(Thr301Profs*20) | Frameshift | Richard et al., 2019/2019 |
| Hearing Impaiment (ILDR1) | Hearing loss | Autosomal Recessive | 3q13.33 | Delation | ILDR1 | c.1005_1005delG | p.(Glu335Aspfs*30) | Frameshift | Richard et al., 2019/2019 |
| Hearing Impaiment (ILDR1) | Hearing loss | Autosomal Recessive | 3q13.33 | Delation | ILDR1 | c.1029_1030delTT | p.(Trp344Glyfs*17) | Frameshift | Richard et al., 2019/2019 |
| Hearing Impaiment (ILDR1) | Hearing loss | Autosomal Recessive | 3q13.33 | Substitution | ILDR1 | c.1384C>T | p.(Arg462*) | Nonsense | Richard et al., 2019/2019 |
