ClinVar Miner

Variants studied for disorder of melanin metabolism

Included ClinVar conditions (48):
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 other not provided total
663 871 3064 2295 377 2 3 1 64 6890

Gene and significance breakdown #

Total genes and gene combinations: 57
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
LYST 145 122 1504 1616 94 0 0 0 44 3375
AP3B1 38 33 390 303 45 0 0 0 1 766
HPS1 37 95 224 48 46 0 0 0 4 419
RAB27A 48 20 127 88 27 0 0 0 0 298
OCA2 72 125 102 18 23 0 0 0 2 283
HPS4 16 52 123 18 23 0 0 0 1 219
HPS3 21 111 65 13 20 0 0 0 1 218
TYR 97 115 48 7 5 0 0 1 4 218
BLOC1S6 19 11 62 80 8 0 0 0 1 174
HPS5 23 18 83 12 19 0 0 0 0 147
CP, HPS3 13 36 46 12 15 0 0 0 0 112
SLC45A2 27 32 54 2 3 0 0 0 3 112
HPS6 16 30 45 3 8 0 0 0 1 99
LOC126806063, LYST 5 4 25 36 1 0 0 0 1 67
LURAP1L, TYRP1 5 13 37 6 9 0 0 0 0 65
TYRP1 5 11 30 1 4 0 1 0 0 49
MC1R 0 6 19 6 1 0 2 0 0 32
GPR143 19 9 3 1 1 0 0 0 0 30
MYO5A 6 1 10 3 10 0 0 0 0 30
HPS6, LOC130004578 5 9 9 1 1 0 0 0 0 21
AP3D1 1 3 13 2 0 0 0 0 0 19
DTNBP1 3 3 10 3 0 0 0 0 0 18
BLOC1S3 6 0 6 1 1 0 0 0 0 14
MLPH 5 2 4 1 2 0 0 0 0 13
HPS5, LOC126861152 0 0 8 0 4 0 0 0 0 12
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 8 1 0 0 0 0 9
MYEF2, SLC24A5 7 1 0 0 0 1 0 0 0 9
DCT 7 0 1 0 0 0 0 0 0 8
LOC129932856, LYST 0 0 6 1 1 0 0 0 0 8
LRMDA 1 1 0 0 3 0 0 0 0 5
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 2 2 0 0 0 0 0 0 0 4
HPS5, LOC130005404 0 1 2 1 0 0 0 0 0 4
HPS4, LOC130067147 0 0 1 1 1 0 0 0 0 3
BLOC1S5 2 0 0 0 0 0 0 0 0 2
HPS1, LOC130004494 0 0 1 1 0 0 0 0 0 2
LOC110121427, LRMDA 1 0 0 1 0 0 0 0 0 2
LOC132090298, LOC132090299, OCA2 2 0 0 0 0 0 0 0 0 2
SLC24A5 0 1 0 0 0 1 0 0 0 2
SMCHD1 0 1 1 0 0 0 0 0 0 2
WDR45 0 0 1 1 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 0 1
ACTN2, ARID4B, B3GALNT2, EDARADD, ERO1B, GGPS1, GNG4, GPR137B, HEATR1, LGALS8, LYST, NID1, RBM34, TBCE, TOMM20 1 0 0 0 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 0 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 0 0 0 0 1
B3GALNT2, GNG4, LYST 0 0 1 0 0 0 0 0 0 1
B3GALNT2, GNG4, LYST, TBCE 1 0 0 0 0 0 0 0 0 1
CCPG1, DNAAF4, PIERCE2, PIGB, RAB27A 0 0 1 0 0 0 0 0 0 1
ETV6 0 1 0 0 0 0 0 0 0 1
HPS1, MIR4685 1 1 0 0 0 0 0 0 1 1
LOC126863256, WDR45 1 0 0 0 0 0 0 0 0 1
LOC132090299, OCA2 1 0 0 0 0 0 0 0 0 1
MIR6811, MLPH 0 0 0 0 1 0 0 0 0 1
MITF 0 0 1 0 0 0 0 0 0 1
NOX4, TYR 0 1 0 0 0 0 0 0 0 1
NR2E3 1 0 0 0 0 0 0 0 0 1
PIGB, RAB27A 1 0 0 0 0 0 0 0 0 1
ZDHHC15 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 130
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 220 49 1810 2073 140 0 0 0 0 4292
Illumina Laboratory Services, Illumina 10 10 911 115 204 0 0 0 0 1250
Fulgent Genetics, Fulgent Genetics 111 267 293 60 9 0 0 0 0 738
Baylor Genetics 67 251 20 0 0 0 0 0 0 337
Genome-Nilou Lab 52 33 28 17 70 0 0 0 0 200
Revvity Omics, Revvity 20 15 152 0 0 0 0 0 0 187
OMIM 166 0 0 0 2 2 3 0 0 172
Natera, Inc. 14 5 72 31 38 0 0 0 0 160
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 63 48 0 0 0 0 0 0 0 111
Genetic Services Laboratory, University of Chicago 54 19 0 0 0 0 0 0 0 73
GeneReviews 2 0 0 0 0 0 0 0 54 56
Juno Genomics, Hangzhou Juno Genomics, Inc 25 12 7 0 0 0 0 0 0 44
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 14 11 16 0 0 0 0 0 0 41
Laboratoire de Génétique Moléculaire, CHU Bordeaux 16 23 1 0 0 0 0 0 0 40
University of Washington Center for Mendelian Genomics, University of Washington 0 38 0 0 0 0 0 0 0 38
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 6 8 23 0 1 0 0 0 0 38
3billion, Medical Genetics 13 12 12 1 0 0 0 0 0 38
Neuberg Centre For Genomic Medicine, NCGM 8 11 20 0 0 0 0 0 0 38
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 29 7 0 0 0 0 0 36
Myriad Genetics, Inc. 1 34 0 0 0 0 0 0 0 35
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 19 6 7 1 0 0 0 0 0 33
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 13 11 7 0 0 0 0 0 0 31
NIHR Bioresource Rare Diseases, University of Cambridge 11 17 3 0 0 0 0 0 0 30
MGZ Medical Genetics Center 10 9 3 0 0 0 0 0 0 22
Center of Medical Genetics, Central South University 8 12 1 0 0 0 0 0 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 8 0 0 0 0 0 0 0 20
Johns Hopkins Genomics, Johns Hopkins University 5 3 4 4 4 0 0 0 0 20
Mendelics 5 0 1 3 6 0 0 0 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 5 5 0 0 0 0 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 12 1 0 0 0 0 14
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 10 0 0 0 0 0 0 13
Molecular Genetics, University Hospital Bordeaux 8 5 0 0 0 0 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 9 1 0 0 0 0 11
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 6 2 0 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 2 3 4 0 0 0 0 0 0 9
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 3 1 0 0 0 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 5 0 0 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 6 0 2 0 0 0 0 0 0 8
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 8 0 0 0 0 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 3 0 0 0 0 0 0 0 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 1 2 2 0 0 0 0 8
Science and Research Branch, Islamic Azad University, Islamic Azad University 3 4 0 0 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 3 0 0 0 0 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 3 2 0 0 0 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 1 2 0 0 0 0 0 0 7
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 5 2 0 0 0 0 0 0 0 7
Centre for Human Genetics, University of Kinshasa 7 0 0 0 0 0 0 0 0 7
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 0 0 0 6
New York Genome Center 1 0 5 0 0 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 6 6
Clinical Genomics Laboratory, Washington University in St. Louis 5 0 0 0 0 0 0 0 0 5
Blood Cell Research, Sanquin 5 0 0 0 0 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 2 0 0 0 0 0 0 0 5
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 5 0 0 0 0 0 0 0 5
Genomics England Pilot Project, Genomics England 1 4 0 0 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 1 0 0 0 0 0 0 5
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 0 0 2 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 0 0 4
Hadassah Hebrew University Medical Center 3 1 0 0 0 0 0 0 0 4
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 2 0 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 3 0 0 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 2 1 0 0 0 0 0 0 0 3
Counsyl 0 1 0 1 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 3 0 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 3 0 0 0 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 2 0 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 0 0 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 2 0 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 0 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 1 0 0 0 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 2 2
Fan Lab, Zhengzhou University 0 2 0 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 0 0 0 2
Genomics Facility, Ludwig-Maximilians-Universität München 2 0 0 0 0 0 0 0 0 2
Rare Disease Group, University of Exeter 0 2 0 0 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 2 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 0 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
Genetics - Synnovis, NHS South East Genomic Laboratory Hub 0 0 1 0 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 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 0 1 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 0 1
Genetic Disease Research Branch / Genetics Development and Disease Section, National Human Genome Research Institute 1 0 0 0 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 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 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 0 1
Markle Lab, Division of Molecular Pathogenesis, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 1 0 0 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 0 0 0 0 0 1
Laboratoire de Génome Humain et Maladies Multifactorielles, Monastir Universite 1 0 0 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 0 0 1

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