MYH9 Chromosome 22
Myosin heavy chain 9
Upload your DNA to see your personal genotypes for variants in MYH9.
What This Gene Does
This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Myosin heavy chains, class II|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100345
Associated Conditions (23)
MYH9-related disorder
Kidney disorder
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Autosomal dominant nonsyndromic hearing loss 17
Inborn genetic diseases
Hearing impairment
Glomerulonephritis
Melanoma
Proteinuria
Nephrotic syndrome
Meniere disease
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Severe X-linked myotubular myopathy
Ovarian serous cystadenocarcinoma
Malignant tumor of urinary bladder
Cataract 35
Macrothrombocytopenia
May-Hegglin Disorder
Rare genetic deafness
Abnormal bleeding
+3 more conditions
Key Variants
RS1038334022
Conflicting classifications of pathogenicity
Health Risk
RS1057520107
Conflicting classifications of pathogenicity
MYH9-related disorder, MYH9-related disorder
Health Risk
RS113130911
Conflicting classifications of pathogenicity
Kidney disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
Health Risk
RS113783861
Conflicting classifications of pathogenicity
MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
Health Risk
RS11549909
Conflicting classifications of pathogenicity
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Health Risk
RS1163525582
Conflicting classifications of pathogenicity
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Health Risk
RS1166802611
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1174428350
Conflicting classifications of pathogenicity
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Inborn genetic diseases, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Health Risk
RS1177354745
Conflicting classifications of pathogenicity
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Health Risk
RS1178789950
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
Health Risk
RS1189741384
Conflicting classifications of pathogenicity
Health Risk
RS1194942976
Conflicting classifications of pathogenicity
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Health Risk
All Variants (284)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2517958032 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2518022641 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS34292387 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, Meniere disease |
| RS367698156 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 |
| RS368125656 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, MYH9-related disorder |
| RS368440234 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS368797590 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS369581570 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder |
| RS370834297 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder |
| RS370860479 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder |
| RS371205546 | Health Risk | Conflicting classifications of pathogenicity | Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS371765378 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372780340 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373381680 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 |
| RS373384951 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS373912645 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17 |
| RS374395918 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 |
| RS374840260 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375576418 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375702969 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS375738970 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375797448 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MYH9-related disorder, Inborn genetic diseases |
| RS375955867 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS376040199 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Ovarian serous cystadenocarcinoma |
| RS376262583 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 |
| RS376396278 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17 |
| RS377115843 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Inborn genetic diseases |
| RS377348805 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS527571090 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, Inborn genetic diseases, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS533935135 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder |
| RS535649291 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17 |
| RS537679678 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder |
| RS538330756 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Inborn genetic diseases, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS544801273 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Inborn genetic diseases |
| RS547770783 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS548123125 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, MYH9-related disorder |
| RS549408462 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS552133535 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, MYH9-related disorder |
| RS554332083 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS557967677 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS558195536 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS55979529 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 |
| RS559841300 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS56327920 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, MYH9-related disorder |
| RS566790184 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS569541375 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Malignant tumor of urinary bladder, MYH9-related disorder |
| RS574230328 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder |
| RS727503281 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder |
| RS727503285 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17 |
| RS727503286 | Health Risk | Conflicting classifications of pathogenicity | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder |