ClinVar Miner

Variants studied for hypertensive disorder

Included ClinVar conditions (60):
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 association risk factor not provided total
517 142 734 291 118 1 2 230 1898

Gene and significance breakdown #

Total genes and gene combinations: 157
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
BMPR2 412 65 258 42 64 0 0 68 804
SMAD9 16 10 96 82 13 0 0 0 209
KCNK3 7 3 107 81 6 0 0 0 198
SARS2 3 2 110 12 8 0 0 1 135
CAV1 4 1 31 35 11 0 0 0 79
TBX4 3 27 14 0 0 0 0 34 74
AGTR1 3 6 40 4 0 0 0 0 52
BMPR1A 0 0 0 0 0 0 0 42 42
LOC130064387, SARS2 0 0 26 2 2 0 0 1 29
​intergenic 0 0 1 0 0 0 0 27 28
AGT 0 3 10 11 1 0 0 0 24
ACVRL1 17 6 2 0 0 0 0 0 23
CAV1, LOC129999169 0 0 2 8 1 0 0 0 11
LOC130009576, SMAD9 0 0 7 1 0 0 0 0 8
BMPR2, LOC129935435 6 0 0 0 0 0 0 0 6
KCNA5 0 0 2 2 2 0 0 0 6
ATP13A3 3 2 0 0 0 0 0 0 5
BMPR2, LOC129935436 3 2 0 0 0 0 0 0 5
NOTCH1 0 0 2 2 1 0 0 0 5
NOTCH3 0 0 3 1 1 0 0 0 5
BMPR2, LOC129935432 0 0 3 1 0 0 0 0 4
CELA2A 4 0 0 0 0 0 0 0 4
COL4A4 0 2 2 0 0 0 0 0 4
CORIN 3 0 0 1 0 0 0 0 4
EIF2AK4 2 1 0 0 1 0 0 0 4
ENG 3 0 0 0 1 0 0 0 4
ENG, LOC102723566 1 2 0 0 1 0 0 0 4
PKD1 2 2 0 0 0 0 0 0 4
BMPR2, LOC129935435, LOC129935436 3 0 0 0 0 0 0 0 3
GDF2 0 1 1 0 1 0 0 0 3
NOS3 0 0 1 1 1 0 0 0 3
PAH 3 0 0 0 0 0 0 0 3
PTGIS 1 0 2 0 0 0 0 0 3
SMAD4 0 0 3 0 0 0 0 0 3
BMPR1B 0 0 1 1 0 0 0 0 2
BMPR2, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435 2 0 0 0 0 0 0 0 2
CAPNS1 2 0 0 0 0 0 0 0 2
DARS2 2 0 0 0 0 0 0 0 2
FAT1 0 0 2 0 0 0 0 0 2
HYDIN 0 1 1 0 0 0 0 0 2
STOX1 1 0 0 0 1 0 1 0 2
ABCA3 0 1 0 0 0 0 0 0 1
ABCC8 0 0 1 0 0 0 0 0 1
ABI2, ALS2, AOX1, BMPR2, BZW1, C2CD6, CARF, CASP10, CASP8, CD28, CDK15, CFLAR, CLK1, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, HYCC2, ICA1L, ICOS, KCTD18, MPP4, NBEAL1, NDUFB3, NIF3L1, NOP58, ORC2, PPIL3, RAPH1, SGO2, SPATS2L, STRADB, SUMO1, TMEM237, TRAK2, WDR12 1 0 0 0 0 0 0 0 1
ABI2, BMPR2, CARF, CD28, CTLA4, CYP20A1, FAM117B, FZD7, ICA1L, ICOS, NBEAL1, NOP58, RAPH1, SUMO1, WDR12 1 0 0 0 0 0 0 0 1
ABR, BHLHA9, LOC130059873, LOC130059874, LOC130059875, LOC130059876, TRARG1 0 0 0 0 0 0 0 1 1
ACSL3, LOC129935685 0 0 0 0 0 0 0 1 1
ADGRG7, LOC129937149, LOC129937150, TFG 0 0 0 0 0 0 0 1 1
AGAP10, ANXA8L1, NPY4R 0 0 0 0 0 0 0 1 1
AGAP4, AGAP6, AGAP9, ANTXRL, ANXA8, ANXA8L1, ARHGAP22, ARHGAP22-IT1, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM245B, FAM25C, FAM25E, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LINC00842, LINC02637, LINC03029, LOC102724593, LOC105378289, LOC105378577, LOC107001062, LOC111818966, LOC111818967, LOC111946240, LOC111946243, LOC111946244, LOC113939916, LOC121366052, LOC121366053, LOC121366054, LOC121366055, LOC124403948, LOC124403949, LOC124403950, LOC124403951, LOC124403952, LOC126860927, LOC126860928, LOC126860929, LOC126860930, LOC126860931, LOC126860932, LOC126860933, LOC130003767, LOC130003768, LOC130003769, LOC130003770, LOC130003771, LOC130003772, LOC130003773, LOC130003774, LOC130003775, LOC130003776, LOC130003777, LOC130003778, LOC130003779, LOC130003780, LOC130003781, LOC130003782, LOC130003783, LOC130003784, LOC130003785, LOC130003786, LOC130003787, LOC130003788, LOC130003789, LOC130003790, LOC130003791, LOC130003792, LOC130003793, LOC130003794, LOC130003795, LOC130003796, LOC130003797, LOC130003798, LOC130003799, LOC130003800, LOC130003801, LOC130003802, LOC130003803, LOC130003804, LOC130003805, LOC130003806, LOC130003807, LOC130003808, LOC130003809, LOC130003810, LOC130003811, LRRC18, MAPK8, MIR4294, MSMB, NCOA4, NPY4R, NPY4R2, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SNORA74C-1, SNORA74C-2, SYT15, SYT15B, TIMM23, TIMM23B, TIMM23B-AGAP6, TMEM273, VSTM4, WASHC2A, WDFY4, ZNF488 0 1 0 0 0 0 0 0 1
AKAP12 0 0 0 0 0 0 0 1 1
ANKFN1 0 0 0 0 0 0 0 1 1
ARHGAP11B, ARHGAP11B-DT, CHRFAM7A, GOLGA8H, GOLGA8J, GOLGA8Q, GOLGA8R, GOLGA8T, LINC02249, LOC106736464, LOC106736465, LOC106736468, LOC106736476, LOC106736480, LOC106783506 0 0 0 0 0 0 0 1 1
ARHGAP24, LOC126807102, LOC126807103, LOC129992790 0 0 0 0 0 0 0 1 1
ARL17A, ARL17B, KANSL1, LOC112533643, LOC126862577, LOC129390878, LRRC37A, LRRC37A2 0 0 0 0 0 0 0 1 1
ARPP21, LOC129936457 0 0 0 0 0 0 0 1 1
ASCL3 0 0 0 0 0 0 0 1 1
ATP8B3, LOC130062987 0 0 0 0 0 0 0 1 1
BAZ2B, LOC120977012, LOC132088769 0 0 0 0 0 0 0 1 1
BMPR2, CARF, FAM117B, ICA1L, NBEAL1, WDR12 0 1 0 0 0 0 0 0 1
BMPR2, LOC129388983, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435, NOP58, SNORD11, SNORD11B, SNORD70, SNORD70B 1 0 0 0 0 0 0 0 1
BMPR2, LOC129935434 0 0 0 1 1 0 0 0 1
BMPR2, NOP58 1 0 0 0 0 0 0 0 1
BMPR2, NOP58, SUMO1 0 1 0 0 0 0 0 0 1
BPIFA3, LOC126863015 0 0 0 0 0 0 0 1 1
CACNA1C 0 0 0 0 0 0 0 1 1
CATSPER2, LOC130056948, LOC130056949, STRC 0 0 0 0 0 0 0 1 1
CAV1, LOC129999168 0 0 0 1 0 0 0 0 1
CD160, PDZK1, RNF115 0 0 0 0 0 0 0 1 1
COL4A5 1 0 0 0 0 0 0 0 1
CORIN, LOC101927179 0 0 1 0 0 0 0 0 1
CTDSPL 0 0 0 0 0 0 0 1 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 0 0 1
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005033, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 0 0 0 0 0 0 0 1 1
CYP3A5, ZSCAN25 0 0 0 0 0 0 0 1 1
DIPK1A, RPL5 1 0 0 0 0 0 0 0 1
DNAJB13, LOC130006402, LOC130006403, LOC130006404, LOC130006405, LOC130006406, LOC130006407, LOC130006408, PAAF1, UCP2 0 0 0 0 0 0 0 1 1
DOK6 0 0 0 0 0 0 0 1 1
DPY19L2, LOC108720144, LOC130008194 0 0 0 0 0 0 0 1 1
ECE1 0 0 1 0 0 0 0 0 1
EHD4, LOC105370792, LOC130056904, SPTBN5 0 0 0 0 0 0 0 1 1
F12 1 0 0 0 0 0 0 0 1
FRG2C, LINC00960, LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073, MIR1324 0 0 0 0 0 0 0 1 1
GBA1, LOC106627981 0 0 0 0 0 0 1 0 1
GJB2 0 1 0 0 0 0 0 0 1
GRIN2A 0 0 0 0 0 0 0 1 1
HCG26, HCP5, LINC01149, LOC121132677, MICA, MICB-DT 0 0 0 0 0 0 0 1 1
IMMP2L 0 0 0 0 0 0 0 1 1
INF2 0 1 0 0 0 0 0 0 1
ITSN1 0 0 0 0 0 0 0 1 1
KIF26B 0 0 0 0 0 0 0 1 1
KSR2 0 0 1 0 0 0 0 0 1
LINC00659, NTSR1 0 0 0 0 0 0 0 1 1
LINC01237, LINC01238, LINC01880, LINC01881, LINC03100, LOC122889016, LOC132205954, LOC285097 0 0 0 0 0 0 0 1 1
LINC01322 0 0 0 0 0 0 0 1 1
LINC01957, LOC101927078 0 0 0 0 0 0 0 1 1
LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072 0 0 0 0 0 0 0 1 1
LINC02089, LINC02876 0 0 0 0 0 0 0 1 1
LINC02112, TAS2R1 0 0 0 0 0 0 0 1 1
LMNTD1 0 0 0 0 0 0 0 1 1
LOC100505915, LOC112340378, LOC129390770, MIR3180-4, MIR6511B2, MPV17L, MPV17L-BMERB1, NPIPA5, PDXDC1, RRN3 0 0 0 0 0 0 0 1 1
LOC102724465 0 0 0 0 0 0 0 1 1
LOC105371933, LOC126862540, LOC130060718, LOC130060719, LOC130060720, LOC130060721, LOC130060722, LOC130060723, LOC130060724, LOC130060725, SLFN11, SLFN12, SLFN13 0 0 0 0 0 0 0 1 1
LOC108281140, LOC132088707, MEGF6 0 0 0 0 0 0 0 1 1
LOC108942766, LOC116268429, LOC124625898, LOC126861438, LOC129390395, LOC130007316, LOC130007317, NANOG, SLC2A14, SLC2A3 0 0 0 0 0 0 0 1 1
LOC110673974 0 0 0 0 0 0 0 1 1
LOC111828495, SAFB2, TINCR 0 0 0 0 0 0 0 1 1
LOC112340392, SULT1A1, SULT1A2 0 0 0 0 0 0 0 1 1
LOC121132708, LOC129997289, NHSL1 0 0 0 0 0 0 0 1 1
LOC122056846, LOC126805716 0 0 0 0 0 0 0 1 1
LOC123575679 0 0 0 0 0 0 0 1 1
LOC124310574 0 0 0 0 0 0 0 1 1
LOC126805821, SARS1 0 0 0 1 0 0 0 0 1
LOC126860321, LOC129999959 0 0 0 0 0 0 0 1 1
LOC129389846 0 0 0 0 0 0 0 1 1
LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339 0 0 0 0 0 0 0 1 1
LOC129390426, LOC132090103 0 0 0 0 0 0 0 1 1
LOC129992813, PKD2 1 0 0 0 0 0 0 0 1
LOC130006532, LOC130006533, LOC130006534, PCF11 0 0 0 0 0 0 0 1 1
LOC130056269, LOC130056270, NRDE2 0 0 0 0 0 0 0 1 1
LOC132090103 0 0 0 0 0 0 0 1 1
LRP1B 0 0 0 0 0 0 0 1 1
MEN1 1 0 0 0 0 0 0 0 1
MGAM 0 0 0 0 0 0 0 1 1
MTUS1 0 0 0 0 0 0 0 1 1
MTX2 1 0 0 0 0 0 0 0 1
MYH9 0 1 0 0 0 0 0 0 1
MYO1D 0 0 0 0 0 0 0 1 1
NIPA1 0 0 0 0 0 0 0 1 1
NLGN1 0 0 0 0 0 0 0 1 1
NRG3 0 0 0 0 0 0 0 1 1
NRXN1-DT 0 0 0 0 0 0 0 1 1
NSD1 0 1 0 0 0 0 0 0 1
OR4C12 0 0 0 0 0 0 0 1 1
OR4D10, OR4D6, OR5A1 0 0 0 0 0 0 0 1 1
PHF6 0 0 1 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 0 0 1
PSG1, PSG11, PSG6, PSG7 0 0 0 0 0 0 0 1 1
PSG1, PSG6, PSG7 0 0 0 0 0 0 0 1 1
PSG11, PSG4, PSG5 0 0 0 0 0 0 0 1 1
PWRN3 0 0 0 0 0 0 0 1 1
RBFOX3 0 0 0 0 0 0 0 1 1
REV1 0 0 0 0 0 0 0 1 1
SARS1 0 0 0 1 0 0 0 0 1
SCARB1 0 0 0 0 0 0 0 1 1
SCYGR1, TM4SF20 0 0 0 0 0 0 0 1 1
SFMBT1 0 0 0 0 0 0 0 1 1
SMAD1 0 0 1 0 0 0 0 0 1
SOX11 0 0 0 0 0 0 0 1 1
SOX17 1 0 0 0 0 0 0 0 1
TOPBP1 0 0 0 0 1 0 0 0 1
TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D 0 0 0 0 0 0 0 1 1
UMOD 0 0 0 0 0 1 0 0 1
VWDE 0 0 0 0 0 0 0 1 1
ZDHHC11 0 0 0 0 0 0 0 1 1
ZNF716 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 60
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Fulgent Genetics, Fulgent Genetics 11 24 367 60 3 0 0 0 465
Rare Disease Genomics Group, St George's University of London 370 0 18 0 0 0 0 0 388
Labcorp Genetics (formerly Invitae), Labcorp 23 4 124 195 28 0 0 0 374
Illumina Laboratory Services, Illumina 0 0 190 26 66 0 0 0 282
Wendy Chung Laboratory, Columbia University Medical Center 6 21 13 0 0 0 0 144 184
NIHR Bioresource Rare Diseases, University of Cambridge 91 59 0 0 0 0 0 0 149
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 0 83 83
Clingen Pulmonary Hypertension Variant Curation Expert Panel, ClinGen 11 12 27 15 4 0 0 0 69
OMIM 40 0 0 0 0 0 1 0 41
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 9 1 10 5 9 0 0 0 34
Centre for Mendelian Genomics, University Medical Centre Ljubljana 11 7 6 0 0 0 1 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 4 7 5 0 0 0 17
Center for Genomic Medicine, Kyoto University Graduate School of Medicine 8 1 0 0 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 0 0 9
Baylor Genetics 1 0 7 0 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 4 0 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 3 0 0 0 0 0 8
Revvity Omics, Revvity 1 2 4 0 0 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 0 0 5 1 0 0 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 3 0 0 0 0 0 5
Center for Personalized Medicine, Children's Hospital Los Angeles 1 3 1 0 0 0 0 0 5
New York Genome Center 0 1 4 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 0 0 4
Mani Lab, Yale Cardiovascular Research Center, Yale University 4 0 0 0 0 0 0 0 4
Institute of Human Genetics, University of Wuerzburg 0 2 1 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Pharmacogenomics Laboratory, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina 2 0 1 0 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 0 0 2
Mendelics 2 0 0 0 0 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
College of Pharmacy, University of Babylon 0 0 0 0 0 1 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Marseille Medical Genetics, U1251, Aix Marseille University, Inserm 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 1 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 0 1
iDNA Genomics 0 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 0 1

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