MYH9 Chromosome 22

Myosin heavy chain 9

284 variants 284 Health Risk

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

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

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

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

Health Risk

All Variants (284)

RSID	Category	Clinical Significance	Conditions
RS768359816	Health Risk	Conflicting classifications of pathogenicity	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS768688000	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS768721880	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
RS769495712	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS770021950	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS770237894	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
RS770791825	Health Risk	Conflicting classifications of pathogenicity	—
RS770864107	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS771229879	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS771459391	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
RS772323929	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Inborn genetic diseases
RS772533807	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
RS772915368	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
RS773227499	Health Risk	Conflicting classifications of pathogenicity	—
RS773960235	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, MYH9-related disorder, Inborn genetic diseases
RS774334908	Health Risk	Conflicting classifications of pathogenicity	—
RS774387771	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS775451903	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS775685559	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, MYH9-related disorder, Inborn genetic diseases
RS775695035	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
RS777701033	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
RS778278736	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
RS778679056	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS779135945	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
RS780656298	Health Risk	Conflicting classifications of pathogenicity	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS780693982	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
RS781388651	Health Risk	Conflicting classifications of pathogenicity	—
RS781414941	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS797044804	Health Risk	Conflicting classifications of pathogenicity	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder, MYH9-related disorder
RS867195616	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS876657520	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS886057481	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS1364444432	Health Risk	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1397006934	Health Risk	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1556642578	Health Risk	Likely pathogenic	—
RS1569534805	Health Risk	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1603482650	Health Risk	Likely pathogenic	MYH9-related disorder, MYH9-related disorder
RS1603482652	Health Risk	Likely pathogenic	MYH9-related disorder, MYH9-related disorder
RS1603483058	Health Risk	Likely pathogenic	MYH9-related disorder, MYH9-related disorder
RS1603483387	Health Risk	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1603483388	Health Risk	Likely pathogenic	MYH9-related disorder, MYH9-related disorder
RS1603484048	Health Risk	Likely pathogenic	MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS2016513741	Health Risk	Likely pathogenic	—
RS2016767710	Health Risk	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2016866550	Health Risk	Likely pathogenic	Macrothrombocytopenia, Macrothrombocytopenia
RS2017727647	Health Risk	Likely pathogenic	May-Hegglin Disorder, May-Hegglin Disorder
RS2146343691	Health Risk	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2146345102	Health Risk	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2146392811	Health Risk	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2146392922	Health Risk	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

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