ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy

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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
838 504 5046 3216 353 3 9762

Gene and significance breakdown #

Total genes and gene combinations: 139
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYBPC3 560 140 1134 798 66 3 2651
MYH7 143 179 1320 850 58 0 2475
MYOM1 0 1 728 437 94 0 1258
JPH2 1 0 300 191 28 0 520
TPM1 13 26 238 176 9 0 453
TNNI3 28 26 237 165 10 0 451
LOC126861897, MHRT, MYH7 7 10 171 113 5 0 304
LOC126861898, MYH7 38 55 118 70 5 0 269
MYL3 5 5 159 91 8 0 261
MHRT, MYH7 10 7 103 96 10 0 223
MYOZ2 0 0 94 36 12 0 142
TTN 1 0 65 40 6 0 112
LAMP2 1 6 37 28 2 0 73
LOC126861897, MYH7 4 2 33 18 1 0 57
ACTC1, GJD2-DT 1 2 46 4 1 0 51
TNNT2 8 14 15 7 7 0 47
ACTN2 0 0 14 15 0 0 29
PRKAG2 4 6 6 1 5 0 22
MYH6 0 0 18 3 0 0 21
CSRP3 0 1 14 3 0 0 18
DNAAF3, TNNI3 0 0 0 16 4 0 17
RYR2 0 0 16 1 0 0 17
MYL2 2 8 3 1 2 0 16
FLNC 0 0 7 1 1 0 9
GLA, RPL36A-HNRNPH2 0 1 2 5 3 0 9
NEXN 0 0 7 2 0 0 9
TRIM63 3 2 6 1 0 0 9
MIR208B, MYH6, MYH7 0 0 8 0 0 0 8
MYLK2 0 0 5 2 0 0 7
VCL 0 0 6 1 0 0 7
CEP85L, PLN 1 1 4 0 0 0 6
LOC114827850, MYL2 1 2 2 0 1 0 6
MIR208A, MYH6, MYH7 0 0 6 0 0 0 6
MYPN 0 0 5 1 0 0 6
RBM20 0 0 4 1 1 0 6
TCAP 0 1 4 0 1 0 6
ANK2 0 0 4 1 0 0 5
CALR3 0 0 4 1 0 0 5
DSC2 0 0 1 4 0 0 5
LDB3 0 0 3 2 0 0 5
TRPM4 0 0 3 1 1 0 5
ALPK3 0 4 0 0 0 0 4
DSG2 0 0 3 1 0 0 4
DSP 0 0 4 0 0 0 4
LOC126806420, TTN 0 0 4 0 0 0 4
SCN5A 0 0 4 0 0 0 4
TNNI3, TNNT1 0 0 1 3 0 0 4
AKAP9 0 0 1 2 0 0 3
CACNA1C 0 0 1 1 1 0 3
KCNH2 0 0 2 1 0 0 3
LOC126806424, TTN 0 0 2 1 0 0 3
LOC126861896, MYH6 0 0 3 0 0 0 3
NEBL 0 0 2 0 1 0 3
TNNC1 1 2 0 0 0 0 3
ABCC9 0 0 2 0 0 0 2
ANKRD1 0 0 1 1 0 0 2
BAG3 0 0 1 0 1 0 2
CRYAB 0 0 2 0 0 0 2
CTF1, LOC130058878 0 0 1 1 0 0 2
DMD 0 0 1 0 1 0 2
DTNA 0 0 1 1 0 0 2
EMILIN2, LPIN2, MYOM1, SMCHD1 0 0 2 0 0 0 2
FKTN 0 0 0 1 1 0 2
GAA 0 0 0 2 0 0 2
GTPBP3 0 0 2 0 0 0 2
HCN4 0 0 2 0 0 0 2
KCNJ5 0 0 1 1 0 0 2
KCNJ8 0 0 0 2 0 0 2
LMNA 0 0 2 0 0 0 2
LOC100128979, TPM1 0 0 2 0 0 0 2
LOC101927055, TTN 0 0 2 0 0 0 2
LOC114827851, LOC126861897, MHRT, MIR208B, MYH6, MYH7 0 0 2 0 0 0 2
LOC126806067, RYR2 0 0 2 0 0 0 2
LOC126806433, TTN 0 0 2 0 0 0 2
MIR208A, MIR208B, MYH6, MYH7 0 0 2 0 0 0 2
MIR208B, MYH7 0 0 2 0 0 0 2
POLG, POLGARF 2 0 0 0 0 0 2
PTPN11 2 0 0 0 0 0 2
TGFB3 0 0 1 1 0 0 2
TMEM43 1 0 1 0 0 0 2
TMPO 0 0 0 2 0 0 2
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 1
ANK2, LOC126807136 0 0 1 0 0 0 1
APH1B, CA12, FBXL22, HERC1, LACTB, LOC100128979, RAB8B, RPS27L, TPM1, USP3 0 0 1 0 0 0 1
BRAF 0 0 1 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 1
CELSR3 0 0 1 0 0 0 1
COL1A1 0 0 1 0 0 0 1
DES 0 0 1 0 0 0 1
DNAAF3, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 1
DNAAF3, LOC130065090, TNNI3 0 0 0 1 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 0 1
EMD 0 0 1 0 0 0 1
EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1, SMCHD1, TGIF1 0 0 1 0 0 0 1
ETFDH 0 1 0 0 0 0 1
EYA4 0 0 0 0 1 0 1
FHL1 0 0 1 0 0 0 1
FHOD3 0 0 1 0 0 0 1
FXN, LOC130001862 0 0 1 0 0 0 1
GJA5, LOC122128420 0 0 1 0 0 0 1
GPD1L 0 0 0 1 0 0 1
GPR149 0 0 1 0 0 0 1
HCN4, LOC105370890, LOC126862173 0 0 0 1 0 0 1
JPH2, LOC108353820, LOC121853007 0 0 1 0 0 0 1
JUP 0 0 1 0 0 0 1
KCNE1 0 0 1 0 0 0 1
KCNJ2 0 0 1 0 0 0 1
KCNQ1 0 0 0 1 0 0 1
KIF5B 0 1 0 0 0 0 1
KLHL24 0 0 1 0 0 0 1
LAMA2 0 0 1 0 0 0 1
LDB3, LOC110121486 0 0 1 0 0 0 1
LOC110121269, SCN5A 0 0 0 1 0 0 1
LOC114827851, MYH6 0 0 1 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 1
LOC126806068, RYR2 0 0 1 0 0 0 1
LOC126806422, TTN 0 0 1 0 0 0 1
LOC126806426, TTN 0 0 1 0 0 0 1
LOC126806427, TTN 0 0 0 0 1 0 1
LOC126806428, TTN 0 0 1 0 0 0 1
LOC126806429, TTN 0 0 1 0 0 0 1
LOC126806431, TTN 0 0 0 1 0 0 1
LOC129930795, NEXN 0 0 1 0 0 0 1
MADD, MYBPC3 0 0 1 0 0 0 1
MAP2K2 0 0 0 0 1 0 1
MASP1 0 0 1 0 0 0 1
MYBPHL 0 0 1 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 1
MYH7B 0 0 1 0 0 0 1
NKX2-5 0 0 1 0 0 0 1
PDLIM3 0 0 0 0 1 0 1
PKP2 0 0 0 1 0 0 1
RNF123 0 0 1 0 0 0 1
SGCA 0 0 0 1 0 0 1
SGCB 0 0 0 1 0 0 1
SOS1 0 0 0 1 0 0 1
TTR 0 0 0 0 1 0 1
UQCRC1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 757 286 4579 3017 301 0 8939
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 222 157 0 0 0 0 379
Illumina Laboratory Services, Illumina 0 0 195 98 2 0 294
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 34 29 85 7 4 0 159
Center for Human Genetics, University of Leuven 41 28 85 1 0 0 155
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 6 4 28 51 16 0 105
Genetics and Genomics Program, Sidra Medicine 4 6 60 31 0 0 101
Cohesion Phenomics 0 0 0 14 68 0 82
ClinGen Cardiomyopathy Variant Curation Expert Panel 25 18 30 2 0 0 75
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 13 2 6 0 21
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 3 9 2 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 6 0 0 0 11
Institute of Human Genetics, University of Wuerzburg 1 5 4 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 5 1 4 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 7 1 0 0 8
Loeys Lab, Universiteit Antwerpen 2 0 5 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 2 1 0 0 0 6
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 5 0 0 0 6
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 6 0 0 0 6
CSER _CC_NCGL, University of Washington 0 2 2 1 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 2 0 0 0 5
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 2 1 0 0 4
Genetic Medico-Diagnostic Laboratory Genica 2 0 2 0 0 0 4
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 2 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Molecular Cardiogenetic Lab, Hospices Civils de Lyon 3 0 0 0 0 0 3
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 2 0 0 0 0 3
Genotypic Technology Pvt Ltd 0 0 3 0 0 0 3
Health in Code S.L. 0 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Phosphorus, Inc. 0 0 1 1 0 0 2
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1 0 2
Genomics, Clalit Research Institute, Clalit Health Care 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Molecular Genetics Lab, DMCH Ludhiana, Dayanand Medical College & Hospital (DMCH) 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1

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