MYH14 Chromosome 19
Myosin heavy chain 14
Upload your DNA to see your personal genotypes for variants in MYH14.
What This Gene Does
This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Myosin heavy chains, class II
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000105357
Associated Conditions (11)
Autosomal dominant nonsyndromic hearing loss 4A
Inborn genetic diseases
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
MYH14-related disorder
Meniere disease
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Hearing impairment
Gastric cancer
See cases
Key Variants
RS11666328
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
Health Risk
RS11882073
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS119103280
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 4A
Health Risk
RS119103281
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 4A, MYH14-related disorder, Autosomal dominant nonsyndromic hearing loss 4A
Health Risk
RS1195002362
Conflicting classifications of pathogenicity
Health Risk
RS1378826651
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
Health Risk
RS138001307
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 4A, Meniere disease, Autosomal dominant nonsyndromic hearing loss 4A
Health Risk
RS140157424
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
Health Risk
RS142134135
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 4A
Health Risk
RS142696359
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
Health Risk
RS145522874
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148054042
Conflicting classifications of pathogenicity
Inborn genetic diseases, MYH14-related disorder, Inborn genetic diseases
Health Risk
All Variants (132)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769362736 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769824862 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS769989306 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS769999356 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS770366755 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS771755654 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS775077510 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS775130663 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Hearing impairment |
| RS776630032 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776693090 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS778036519 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS780299880 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS1401235358 | Health Risk | Likely pathogenic | — |
| RS2123347425 | Health Risk | Likely pathogenic | — |
| RS2514302884 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS2514411278 | Health Risk | Likely pathogenic | — |
| RS2514443505 | Health Risk | Likely pathogenic | See cases, See cases |
| RS866856763 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 4A, Ovarian serous cystadenocarcinoma, Autosomal dominant nonsyndromic hearing loss 4A |
| RS113993956 | Health Risk | Pathogenic | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome |
| RS119103279 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS1208834216 | Health Risk | Pathogenic | MYH14-related disorder, MYH14-related disorder |
| RS1224310163 | Health Risk | Pathogenic | — |
| RS2123237278 | Health Risk | Pathogenic | — |
| RS2123294954 | Health Risk | Pathogenic | — |
| RS2123499275 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS2513757356 | Health Risk | Pathogenic | — |
| RS2514389343 | Health Risk | Pathogenic | — |
| RS2514421809 | Health Risk | Pathogenic | — |
| RS28940307 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS554040475 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS767205350 | Health Risk | Pathogenic | — |
| RS371338704 | Health Risk | Pathogenic/Likely pathogenic | — |