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
20 4 138 169 61 2 353

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 41 130 50 0 209
MYH9-related disorder 0 0 51 69 23 0 143
Nonsyndromic Hearing Loss, Dominant 0 0 50 69 23 0 142
not provided 1 2 45 2 1 0 51
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 18 0 4 0 2 1 25
Deafness, autosomal dominant nonsyndromic sensorineural 17 2 0 1 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
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
Nonsyndromic hearing loss and deafness 1 0 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; Hypertension 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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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 39 82 41 0 163
Illumina Clinical Services Laboratory,Illumina 0 0 51 69 23 0 143
PreventionGenetics 0 0 0 54 27 0 81
GeneDx 1 0 9 11 14 0 35
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
Gharavi Laboratory,Columbia University 0 1 7 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 1 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 4 0 0 0 5
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 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
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 0 1
Center for Statistical Genetics,Baylor College of Medicine 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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