ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome

Included ClinVar conditions (13):
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 not provided total
207 404 1087 499 191 10 2255

Gene and significance breakdown #

Total genes and gene combinations: 22
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AP3B1 38 33 390 303 45 1 766
HPS1 38 95 224 48 46 4 419
HPS4 16 52 123 18 23 1 219
HPS3 21 111 65 13 20 1 218
BLOC1S6 19 11 62 80 8 1 174
HPS5 24 18 83 12 19 0 148
CP, HPS3 13 36 46 12 15 0 112
HPS6 16 30 45 3 8 1 99
HPS6, LOC130004578 5 9 9 1 1 0 21
DTNBP1 3 3 10 3 0 0 18
AP3D1 1 1 12 2 0 0 16
BLOC1S3 6 0 6 1 1 0 14
HPS5, LOC126861152 0 0 8 0 4 0 12
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 2 2 0 0 0 0 4
HPS5, LOC130005404 0 1 2 1 0 0 4
HPS4, LOC130067147 0 0 1 1 1 0 3
BLOC1S5 2 0 0 0 0 0 2
HPS1, LOC130004494 0 0 1 1 0 0 2
​intergenic 1 0 0 0 0 0 1
AGGF1, AP3B1, ARSB, CRHBP, F2RL1, LHFPL2, OTP, PDE8B, S100Z, SCAMP1, TBCA, WDR41, ZBED3 1 0 0 0 0 0 1
ETV6 0 1 0 0 0 0 1
HPS1, MIR4685 1 1 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 69
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 11 394 367 49 0 864
Illumina Laboratory Services, Illumina 0 1 446 65 115 0 627
Fulgent Genetics, Fulgent Genetics 37 98 181 41 3 0 360
Baylor Genetics 54 184 7 0 0 0 245
Natera, Inc. 14 5 72 31 38 0 160
OMIM 62 0 0 0 0 0 62
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 26 0 0 0 0 47
Genome-Nilou Lab 1 0 1 1 40 0 43
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 14 11 14 0 0 0 39
Revvity Omics, Revvity 10 12 14 0 0 0 36
Myriad Genetics, Inc. 1 34 0 0 0 0 35
NIHR Bioresource Rare Diseases, University of Cambridge 11 17 3 0 0 0 30
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 6 3 15 0 1 0 25
Laboratoire de Génétique Moléculaire, CHU Bordeaux 16 2 0 0 0 0 18
Johns Hopkins Genomics, Johns Hopkins University 1 0 4 3 4 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 1 0 0 11
GeneReviews 2 0 0 0 0 8 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 4 2 0 0 0 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 10 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 4 6 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 5 1 0 0 8
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 1 4 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 1 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
Blood Cell Research, Sanquin 5 0 0 0 0 0 5
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 5 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 0 0 0 0 4
3billion, Medical Genetics 3 0 0 1 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Counsyl 0 1 0 1 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Center of Medical Genetics, Central South University 2 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Molecular Genetics, University Hospital Bordeaux 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Markle Lab, Division of Molecular Pathogenesis, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.