ClinVar Miner

Variants studied for pulmonary arterial hypertension

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
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Gene type:
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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
484 109 347 215 105 144 1295

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BMPR2 411 57 158 41 64 68 710
KCNK3 7 2 85 73 6 0 168
SMAD9 9 3 45 57 13 0 122
TBX4 3 27 14 0 0 34 74
CAV1 4 1 14 28 11 0 56
BMPR1A 0 0 0 0 0 42 42
ACVRL1 17 6 2 0 0 0 23
CAV1, LOC129999169 0 0 1 6 1 0 8
LOC130009576, SMAD9 0 0 7 1 0 0 8
BMPR2, LOC129935435 6 0 0 0 0 0 6
KCNA5 0 0 2 2 2 0 6
ATP13A3 3 2 0 0 0 0 5
BMPR2, LOC129935436 3 2 0 0 0 0 5
NOTCH1 0 0 2 2 1 0 5
NOTCH3 0 0 3 1 1 0 5
BMPR2, LOC129935432 0 0 3 1 0 0 4
EIF2AK4 2 1 0 0 1 0 4
ENG 3 0 0 0 1 0 4
ENG, LOC102723566 1 2 0 0 1 0 4
GDF2 0 1 2 0 1 0 4
ABCA3 0 2 1 0 0 0 3
BMPR2, LOC129935435, LOC129935436 3 0 0 0 0 0 3
PAH 3 0 0 0 0 0 3
SMAD4 0 0 3 0 0 0 3
BMPR1B 0 0 1 1 0 0 2
BMPR2, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435 2 0 0 0 0 0 2
CAPNS1 2 0 0 0 0 0 2
HYDIN 0 1 1 0 0 0 2
ABCC8 0 0 1 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 1
ABI2, BMPR2, CARF, CD28, CTLA4, CYP20A1, FAM117B, FZD7, ICA1L, ICOS, NBEAL1, NOP58, RAPH1, SUMO1, WDR12 1 0 0 0 0 0 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 1
BMPR2, CARF, FAM117B, ICA1L, NBEAL1, WDR12 0 1 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 1
BMPR2, LOC129935434 0 0 0 1 1 0 1
BMPR2, NOP58 1 0 0 0 0 0 1
BMPR2, NOP58, SUMO1 0 1 0 0 0 0 1
CAV1, LOC129999168 0 0 0 1 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 1
GJB2 0 1 0 0 0 0 1
PHF6 0 0 1 0 0 0 1
PMS2 1 0 0 0 0 0 1
SMAD1 0 0 1 0 0 0 1
SOX17 1 0 0 0 0 0 1
TOPBP1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rare Disease Genomics Group, St George's University of London 370 0 18 0 0 0 388
Labcorp Genetics (formerly Invitae), Labcorp 16 3 109 157 28 0 313
Illumina Laboratory Services, Illumina 0 0 139 23 61 0 223
Wendy Chung Laboratory, Columbia University Medical Center 6 21 13 0 0 144 184
NIHR Bioresource Rare Diseases, University of Cambridge 91 59 0 0 0 0 149
Fulgent Genetics, Fulgent Genetics 7 2 48 25 2 0 84
Clingen Pulmonary Hypertension Variant Curation Expert Panel, ClinGen 10 10 18 15 4 0 57
OMIM 34 0 0 0 0 0 34
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 9 1 10 5 9 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 4 6 4 0 15
Center for Genomic Medicine, Kyoto University Graduate School of Medicine 8 1 0 0 0 0 9
Center for Personalized Medicine, Children's Hospital Los Angeles 1 4 2 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 0 0 5 1 0 0 6
New York Genome Center 0 1 5 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 1 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 2 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 3 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 2 1 0 0 0 3
Revvity Omics, Revvity 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 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 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Pharmacogenomics Laboratory, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina 1 0 0 0 0 0 1

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