ClinVar Miner

Variants in gene MYH9

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
25 18 236 201 147 3 499

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH9-related disorder 12 12 82 16 119 1 242
not specified 0 0 49 141 53 0 231
Autosomal dominant nonsyndromic deafness 17 2 0 115 49 35 0 201
not provided 4 3 51 61 44 0 153
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 19 2 15 1 2 1 38
Nonsyndromic Hearing Loss, Dominant 0 0 5 3 2 0 10
none provided 0 0 0 2 5 0 7
Macrothrombocytopenia 0 0 5 0 0 0 5
Hearing impairment 0 0 3 0 1 0 4
Thrombocytopenia 1 0 3 0 0 0 4
Nephrotic syndrome 0 0 3 0 0 0 3
Abnormal bleeding; Thrombocytopenia 2 0 0 0 0 0 2
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic deafness 17 0 0 2 0 0 0 2
Autosomal recessive nonsyndromic deafness 1 0 0 0 0 0 1
Glomerulonephritis (disease) 0 0 1 0 0 0 1
Hemangioma, capillary infantile 0 1 0 0 0 0 1
May-Hegglin Disorder 0 1 0 0 0 0 1
Obesity; Epistaxis; Abnormal facial shape; Numerous pigmented freckles; Abnormal platelet function; Abnormal platelet morphology; Increased mean platelet volume; Abnormal platelet shape; Thrombocytopenia; Hypertensive disorder 0 1 0 0 0 0 1
Rare genetic deafness 1 0 0 0 0 0 1
Vitelliform macular dystrophy 1; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic deafness 17 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 119 59 119 0 207
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 45 93 44 0 183
PreventionGenetics, PreventionGenetics 0 0 0 54 27 0 81
Invitae 0 0 2 42 34 0 78
GeneDx 1 0 9 24 24 0 58
NIHR Bioresource Rare Diseases, University of Cambridge 12 12 15 0 0 0 39
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 26 3 6 0 35
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 6 6 0 0 17
GeneReviews 14 0 0 0 2 0 16
OMIM 15 0 0 0 0 0 15
Athena Diagnostics Inc 0 0 1 1 9 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 9 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 3 5 0 9
Gharavi Laboratory,Columbia University 0 1 7 0 0 0 8
Mendelics 1 0 2 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 3 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 2 0 1 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Birmingham Platelet Group; University of Birmingham 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Kahle Lab,Yale University 0 1 0 0 0 0 1
Thrombosis and Haemostasis Unit,Fondazione IRCCS "Casa Sollievo della Sofferenza" 0 1 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 0 1

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