ClinVar Miner

Variants studied for cerebral lipidosis with dementia

Included ClinVar conditions (32):
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 affects other not provided total
1081 809 3256 3662 342 36 2 46 8526

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
HEXA 193 151 361 456 25 35 2 1 1079
CLN3 111 142 341 484 16 0 0 1 1009
CYP27A1 145 102 360 454 24 0 0 3 985
ATP13A2 41 23 428 381 50 0 0 3 860
HEXB 126 95 154 372 21 0 0 1 698
CLN6 81 55 252 318 25 0 0 3 671
CTSD 31 10 211 305 21 0 0 0 554
CLN8 52 56 213 214 9 0 0 4 499
GRN 51 9 235 182 21 0 0 0 494
CLN5 66 15 190 196 13 0 0 0 469
TPP1 51 77 183 18 26 0 0 28 331
DNAJC5 4 0 157 113 63 0 0 0 330
GBA1, LOC106627981 57 44 18 4 2 0 0 1 114
CLN5, LOC130009913 10 4 34 58 4 0 0 0 108
CTSF 12 9 32 39 17 0 0 1 105
CTSD, PRADX 3 3 41 46 3 0 0 0 91
GRN, LOC125177489 5 0 9 10 1 0 0 0 25
CTSD, LOC130005119 0 0 13 6 0 0 0 0 19
PPT1 12 5 1 0 0 0 0 0 18
ATP13A2, LOC129929540 0 0 5 4 0 0 0 0 9
GFM2, HEXB 1 0 5 2 1 0 0 0 8
​intergenic 6 0 0 0 0 0 0 0 6
MFSD8 3 3 0 0 0 0 0 0 6
GBA1 3 0 2 0 0 0 0 0 5
KCTD7 1 3 0 0 0 0 0 0 4
DNAJC5, LOC130066405 0 0 3 0 0 0 0 0 3
HEXB, LOC129994060, LOC129994061, LOC129994062 3 0 0 0 0 0 0 0 3
AAGAB, C15orf61, CALML4, CLN6, CORO2B, DIS3L, FEM1B, IQCH, ITGA11, LCTL, MAP2K1, MAP2K5, MEGF11, PIAS1, RAB11A, RNU6-1, RPL4, SKOR1, SMAD3, SMAD6, SNAPC5, TIPIN, ZWILCH 0 0 1 0 0 0 0 0 1
ABHD18, MFSD8 0 1 0 0 0 0 0 0 1
ADPGK, ARIH1, BBS4, CD276, CELF6, GOLGA6B, GRAMD2A, HCN4, HEXA, INSYN1, LOXL1, MYO9A, NEO1, NPTN, NR2E3, PARP6, PKM, REC114, SENP8, TBC1D21, TMEM202 1 0 0 0 0 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 0 0 0 1
ANKDD1B, ANKRD31, CERT1, FAM169A, GCNT4, GFM2, HEXB, HMGCR, NSA2, POC5, POLK 0 0 1 0 0 0 0 0 1
AP2A2, ASCL2, BRSK2, C11orf21, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM10, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PHRF1, PIDD1, PNPLA2, POLR2L, RASSF7, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4 0 0 1 0 0 0 0 0 1
APBB1, ARFIP2, C11orf42, CAVIN3, CCKBR, CNGA4, DNHD1, FHIP1B, HPX, ILK, OR52B2, OR52E4, OR52E6, OR52E8, OR52L1, OR52N1, OR52N2, OR52N4, OR52N5, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, RRP8, SMPD1, TAF10, TIMM10B, TPP1, TRIM22, TRIM3 0 0 1 0 0 0 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, GSG1L, GTF3C1, IL21R, IL27, KATNIP, LAT, NFATC2IP, NPIPB6, NUPR1, RABEP2, SBK1, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM, XPO6 1 0 0 0 0 0 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, IL27, NUPR1, RABEP2, SGF29, SH2B1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 0 0 0 1
APOBR, CLN3, IL27, LOC126862326, LOC130058727, LOC130058728, LOC130058729, LOC130058730, NUPR1, SGF29, SULT1A2 1 0 0 0 0 0 0 0 1
ARHGEF10, CLN8 1 0 0 0 0 0 0 0 1
ASB16, ATXN7L3, G6PC3, GRN, HDAC5, HROB, LSM12, RUNDC3A, SLC25A39, SLC4A1, TMUB2, UBTF 0 0 1 0 0 0 0 0 1
CLN5, EDNRB, FBXL3, MYCBP2, SCEL, SLAIN1 1 0 0 0 0 0 0 0 1
CLN5, LOC126861804, LOC130009913 1 0 0 0 0 0 0 0 1
CTSD, H19, LSP1, MRPL23, SYT8, TNNI2, TNNT3 0 0 1 0 0 0 0 0 1
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 0 0 1
ENC1, HEXB, LOC123497911, LOC129994057, LOC129994058, LOC129994059, LOC129994060, LOC129994061, LOC129994062 1 0 0 0 0 0 0 0 1
GM2A 1 0 0 0 0 0 0 0 1
HEXA, LOC130057475 1 1 0 0 0 1 0 0 1
LOC130005207, TPP1 1 0 0 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 0 0 1
SETX 0 0 1 0 0 0 0 0 1
SMPD1 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 129
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Invitae 791 170 2482 3537 221 0 2 0 7203
Illumina Laboratory Services, Illumina 14 5 465 58 123 0 0 0 665
Natera, Inc. 97 21 371 58 56 0 0 0 603
Counsyl 24 206 154 30 1 0 0 0 415
Fulgent Genetics, Fulgent Genetics 68 22 118 48 4 0 0 0 260
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 126 110 0 0 0 0 0 0 236
Baylor Genetics 104 87 20 0 0 0 0 0 209
OMIM 125 0 0 0 0 36 0 0 161
Genome-Nilou Lab 11 8 76 12 42 0 0 0 149
Myriad Genetics, Inc. 23 103 7 0 0 0 0 0 133
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 46 30 3 0 0 0 0 0 79
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 72 0 0 0 0 0 0 72
GeneReviews 58 0 0 0 3 0 0 8 69
Revvity Omics, Revvity 31 13 16 0 0 0 0 0 60
Mendelics 25 16 5 4 4 0 0 0 54
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 9 7 11 0 0 0 0 0 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 21 2 0 0 0 0 24
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 9 5 6 0 3 0 0 0 23
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 22 22
3billion 11 5 6 0 0 0 0 0 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 10 8 0 0 0 21
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 2 1 5 11 0 0 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 2 2 0 0 0 0 0 20
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 5 6 0 0 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 8 2 7 1 0 0 0 0 18
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 7 2 0 0 0 0 0 17
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 8 0 0 0 14
Centogene AG - the Rare Disease Company 13 0 0 0 0 0 0 0 13
Genetic Services Laboratory, University of Chicago 9 3 0 0 0 0 0 0 12
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 7 5 0 0 0 0 0 0 12
MGZ Medical Genetics Center 7 1 3 0 0 0 0 0 11
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 9 0 0 0 1 0 0 0 10
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 8 0 1 0 0 0 0 0 9
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 8 1 0 0 0 0 0 0 9
New York Genome Center 4 0 5 0 0 0 0 0 9
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 8 0 0 0 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 2 0 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 0 8 8
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 4 4 0 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 2 1 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 5 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 1 2 0 0 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 2 0 0 0 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 4 2 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 0 0 0 0 0 1 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 5
DASA 3 2 0 0 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 0 0 0 4
Department of Medical Biology, Faculty of Medicine, Hacettepe University 2 2 0 0 0 0 0 0 4
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 2 1 0 0 0 0 0 4
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 1 1 0 0 0 0 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 0 0 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 2 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 1 1 0 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 0 0 3
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 3 0 0 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 1 1 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 0 2
Sema4, Sema4 1 1 0 0 0 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 1 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 1 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 1 1 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 0 0 2
GenomeConnect - GM1 0 0 0 0 0 0 0 2 2
Pars Genome Lab 0 0 1 0 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 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 0 1 0 0 0 0 0 1
Neurogenetics Department, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 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
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 0 1
Child Neurology Division, Pediatrics Department, KAHER's Jawaharlal Nehru Medical College, Belagavi 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 1 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 0 0 1
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 1 1

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