MYO6 Chromosome 6
Myosin VI
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What This Gene Does
This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
Myosin heavy chains, class VI
Locus Type
gene with protein product
Location
6q14.1
Ensembl
ENSG00000196586
Associated Conditions (20)
Autosomal recessive nonsyndromic hearing loss 37
Autosomal dominant nonsyndromic hearing loss 22
Inborn genetic diseases
Gastric cancer
MYO6-related disorder
Cervical cancer
Familial prostate cancer
Papillary renal cell carcinoma type 1
Infertility disorder
Male infertility
Hearing impairment
Obesity
Rare genetic deafness
Nonsyndromic genetic hearing loss
Ear malformation
Essential tremor
Junctional epidermolysis bullosa with pyloric atresia
Autosomal dominant nonsyndromic hearing loss
Monogenic hearing loss
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Key Variants
RS111033431
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
Health Risk
RS111530469
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
Health Risk
RS112597191
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
Health Risk
RS114970874
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
Health Risk
RS116215208
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
Health Risk
RS118121148
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
Health Risk
RS1185813203
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37
Health Risk
RS1194065369
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121912559
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Gastric cancer
Health Risk
RS138437852
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
Health Risk
RS139174622
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
Health Risk
RS139664153
Conflicting classifications of pathogenicity
MYO6-related disorder, MYO6-related disorder
Health Risk
All Variants (144)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS540365866 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37 |
| RS541767003 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS55662069 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, MYO6-related disorder |
| RS55905349 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Inborn genetic diseases |
| RS562815854 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37 |
| RS565770950 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS570588843 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS570884031 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS571307356 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37 |
| RS61734891 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Inborn genetic diseases |
| RS6925845 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS727504743 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727505098 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750374337 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS752948085 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37 |
| RS758630450 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS765929647 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37 |
| RS768643110 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Inborn genetic diseases |
| RS77813459 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS79815348 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37 |
| RS886061759 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS9443200 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37 |
| RS1057523846 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37 |
| RS1060499799 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22 |
| RS1554205683 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1554214085 | Health Risk | Likely pathogenic | — |
| RS1583208411 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1771411002 | Health Risk | Likely pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS1775638556 | Health Risk | Likely pathogenic | — |
| RS1777874560 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS1778054006 | Health Risk | Likely pathogenic | MYO6-related disorder, MYO6-related disorder |
| RS2149288272 | Health Risk | Likely pathogenic | Ear malformation, Ear malformation |
| RS2149347766 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS2149358928 | Health Risk | Likely pathogenic | — |
| RS2149367858 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37 |
| RS2534950585 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS2535265747 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS2535494860 | Health Risk | Likely pathogenic | — |
| RS2535510209 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37 |
| RS2535543723 | Health Risk | Likely pathogenic | — |
| RS2535543931 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS2535544061 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS2535553134 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS2535586551 | Health Risk | Likely pathogenic | MYO6-related disorder, MYO6-related disorder |
| RS397517045 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS551348450 | Health Risk | Likely pathogenic | Essential tremor, Nonsyndromic genetic hearing loss, Autosomal dominant nonsyndromic hearing loss 22 |
| RS727504548 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS727505015 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS918013766 | Health Risk | Likely pathogenic | — |
| RS121912557 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |