ClinVar Miner

Variants studied for disorder of tyrosine metabolism

Included ClinVar conditions (15):
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 other not provided total
576 451 750 1575 153 1 30 3157

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
TH 82 129 359 542 40 0 4 1039
FAH 101 116 141 323 40 1 11 640
HGD 238 80 72 176 22 0 11 516
TAT 28 37 71 221 8 0 0 346
HPD 31 9 58 195 25 0 0 297
TYR 82 61 19 6 3 0 4 139
LOC111413029, TAT 3 10 10 54 0 0 0 76
HPD, LOC126861662 4 1 5 29 3 0 0 40
FAH, LOC112272621 5 6 3 24 2 0 0 36
INS, INS-IGF2, TH 1 0 0 2 5 0 0 8
HPD, LOC130009013 0 0 6 0 0 0 0 6
INS, TH 0 0 1 3 3 0 0 4
FAH, LOC130057734 0 0 1 0 2 0 0 3
ABHD17C, ARNT2, CEMIP, FAH, MESD, ZFAND6 0 0 1 0 0 0 0 1
ABTB1, ACAD11, ACAD9, ACKR4, ACP3, ADCY5, ALDH1L1, ALG1L2, ARGFX, ASTE1, ATP2C1, BFSP2, C3orf22, CASR, CCDC14, CD86, CDV3, CFAP100, CFAP92, CHCHD6, CHST13, CNBP, COL6A5, COL6A6, COPG1, CPNE4, CSTA, DNAJB8, DNAJC13, DTX3L, EAF2, EEFSEC, EFCAB12, EFCC1, FAM162A, FBXO40, GATA2, GOLGB1, GP9, GTF2E1, H1-10, H1-8, HACD2, HCLS1, HEG1, HGD, HMCES, HSPBAP1, IFT122, ILDR1, IQCB1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, LINC01565, MBD4, MCM2, MGLL, MIX23, MRPL3, MUC13, MYLK, NEK11, NPHP3, NUDT16, OSBPL11, PARP14, PARP15, PARP9, PDIA5, PIK3R4, PLXNA1, PLXND1, PODXL2, POLQ, PRR23E, RAB43, RAB7A, RABL3, RHO, ROPN1, ROPN1B, RPN1, RUVBL1, SEC22A, SEC61A1, SEMA5B, SLC12A8, SLC15A2, SLC41A3, SLC49A4, SNX4, STXBP5L, TF, TMCC1, TMEM108, TOPBP1, TPRA1, TRH, TXNRD3, TXNRD3NB, UBA5, UMPS, UROC1, WDR5B, ZNF148, ZXDC 1 0 0 0 0 0 0 1
AP2A2, BRSK2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, IFITM10, IGF2, INS, INS-IGF2, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PIDD1, PNPLA2, POLR2L, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TSPAN4 0 0 1 0 0 0 0 1
ASCL2, BRSK2, C11orf21, CD81, CDKN1C, CTSD, DUSP8, H19, IFITM10, IGF2, INS, INS-IGF2, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC5B, SYT8, TH, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSSC4 0 0 1 0 0 0 0 1
GCDH 0 1 0 0 0 0 0 1
HGD, LOC126806786 0 1 0 0 0 0 0 1
ZDHHC15 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 287 102 425 1532 104 1 0 2451
Illumina Laboratory Services, Illumina 10 1 196 25 67 0 0 290
Natera, Inc. 20 10 120 53 33 0 0 236
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 205 3 0 0 4 0 0 212
Baylor Genetics 52 124 11 0 0 0 0 186
Counsyl 16 106 56 2 0 0 0 180
Fulgent Genetics, Fulgent Genetics 36 15 41 23 3 0 0 118
Genome-Nilou Lab 45 22 10 4 37 0 0 118
OMIM 77 0 0 0 1 0 0 78
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 23 0 0 0 0 0 48
Myriad Genetics, Inc. 6 40 0 0 0 0 0 46
Genetic Services Laboratory, University of Chicago 28 9 0 0 0 0 0 37
Revvity Omics, Revvity 9 10 13 0 0 0 0 32
GeneReviews 0 0 0 0 0 0 27 27
Neuberg Centre For Genomic Medicine, NCGM 9 8 10 0 0 0 0 26
3billion 12 5 4 0 0 0 0 21
Mendelics 8 4 3 1 3 0 0 19
Juno Genomics, Hangzhou Juno Genomics, Inc 15 2 1 0 0 0 0 18
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 7 4 0 0 0 0 17
MGZ Medical Genetics Center 7 5 2 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 2 5 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 0 1 0 0 0 0 11
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 2 0 0 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 1 0 0 0 0 0 8
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 7 0 0 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 4 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 2 0 0 0 0 0 6
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 6 0 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 2 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 0 1 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 3 0 0 5
Center of Medical Genetics, Central South University 2 3 0 0 0 0 0 5
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 2 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 3 0 0 0 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 1 2 1 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 0 0 0 0 0 0 4
Biochemical Genetics Laboratory, National Taiwan University 1 3 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 2 0 0 0 0 3
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 1 0 0 0 0 3
NxGen MDx 0 3 0 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 0 3
Laboratory Cellgenetics, GMDL Cellgenetics 2 1 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
Science and Research Branch, Islamic Azad University, Islamic Azad University 0 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 1 0 0 0 1 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 2
Rare Disease Group, University of Exeter 0 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 2
Molecular Genetics, University Hospital Bordeaux 1 1 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Chehab Lab, University of California, San Francisco 1 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 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 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 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 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 1 0 0 0 0 0 1
Department of Medical Genetics and Prenatal Diagnosis, Taizhou People's Hospital 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 1 0 0 0 0 0 0 1

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