ClinVar Miner

Variants in gene MYH9

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Minimum submission review status: Collection method:
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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
24 15 165 205 83 3 435

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 47 138 53 0 225
MYH9-related disorder 12 12 61 69 23 1 178
not provided 1 2 48 58 44 0 143
Nonsyndromic Hearing Loss, Dominant 0 0 50 69 23 0 142
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 18 0 11 1 2 1 33
Macrothrombocytopenia 0 0 5 0 0 0 5
Deafness, autosomal dominant nonsyndromic sensorineural 17 2 0 1 0 0 0 3
Thrombocytopenia 0 0 3 0 0 0 3
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness, autosomal dominant nonsyndromic sensorineural 17 0 0 2 0 0 0 2
Autosomal recessive non-syndromic sensorineural deafness type DFNB 1 0 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Hearing impairment 0 0 1 0 0 0 1
Hemangioma, capillary infantile 0 1 0 0 0 0 1
Macular dystrophy, atypical vitelliform; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness, autosomal dominant nonsyndromic sensorineural 17 0 0 0 0 0 1 1
Obesity; Epistaxis; Abnormal facial shape; Numerous pigmented freckles; Abnormal platelet function; Abnormal platelet morphology; Increased mean platelet volume; Abnormal platelet shape; Thrombocytopenia; Hypertension 0 1 0 0 0 0 1
Rare genetic deafness 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 44 89 43 0 177
Illumina Clinical Services Laboratory,Illumina 0 0 51 69 23 0 143
PreventionGenetics,PreventionGenetics 0 0 0 54 27 0 81
Invitae 0 0 0 42 34 0 76
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 6 3 0 0 10
Gharavi Laboratory,Columbia University 0 1 7 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 3 0 5
Mendelics 1 0 2 1 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
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
Clinical Genetics, Erasmus University Medical Center 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Kahle Lab,Yale University 0 1 0 0 0 0 1

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