ClinVar Miner

Variants studied for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
830 788 3209 3325 359 2 47 7950

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
CLN3 125 154 339 515 16 0 1 1055
ATP13A2 47 30 430 429 51 0 3 920
MFSD8 110 69 339 356 28 0 0 869
CLN6 88 71 252 339 26 0 3 707
PPT1 97 135 202 256 28 0 3 650
CTSD 32 12 211 332 21 0 0 584
CLN5 80 89 237 216 21 0 2 571
GRN 58 8 252 204 21 0 0 538
CLN8 58 60 217 217 9 0 4 514
TPP1 53 96 188 18 26 0 28 349
DNAJC5 4 0 166 120 63 0 0 346
KCTD7 27 26 169 110 20 2 0 329
CLN5, LOC130009913 12 14 40 62 4 0 1 123
CTSF 14 16 37 43 17 0 1 122
CTSD, PRADX 4 4 41 50 3 0 0 97
KCTD7, LOC129998533 2 0 41 26 2 0 1 71
GRN, LOC125177489 5 0 9 12 1 0 0 27
CTSD, LOC130005119 0 0 13 6 0 0 0 19
LOC129930245, PPT1 3 2 3 10 1 0 0 18
ATP13A2, LOC129929540 0 0 5 4 0 0 0 9
DNAJC5, LOC130066405 0 0 3 0 0 0 0 3
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 2 0 0 0 0 2
ABHD18, MFSD8 0 1 0 0 1 0 0 2
LOC129993055, LOC129993056, LOC129993057, MFSD8 0 0 2 0 0 0 0 2
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 1
ABHD18, HSPA4L, INTU, LARP1B, MFSD8, PLK4, SLC25A31 1 0 0 0 0 0 0 1
ABHD18, LARP1B, MFSD8, PLK4 0 0 1 0 0 0 0 1
ABHD18, LOC129993055, LOC129993056, LOC129993057, LOC129993058, MFSD8 1 0 0 0 0 0 0 1
ABHD18, LOC129993058, MFSD8 0 0 1 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 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 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 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, IL27, NUPR1, RABEP2, SGF29, SH2B1, SULT1A1, SULT1A2, TUFM 1 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 1
ARHGEF10, CLN8 1 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 1
CLN5, EDNRB, FBXL3, MYCBP2, SCEL, SLAIN1 1 0 0 0 0 0 0 1
CLN5, LOC126861804, LOC130009913 1 0 0 0 0 0 0 1
CTSD, H19, LSP1, MRPL23, SYT8, TNNI2, TNNT3 0 0 1 0 0 0 0 1
FAM171A2, GRN 1 0 0 0 0 0 0 1
HSPA4L, INTU, MFSD8, PLK4, SLC25A31 0 0 1 0 0 0 0 1
KCTD7, LOC129998533, LOC129998534, LOC129998535 0 0 1 0 0 0 0 1
LOC121725014, LOC129930244, LOC129930245, PPT1 0 0 1 0 0 0 0 1
LOC130005207, TPP1 1 0 0 0 0 0 0 1
MEFV 0 1 0 0 0 0 0 1
MFSD8, PLK4 0 0 1 0 0 0 0 1
SMPD1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 126
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 629 175 2411 3210 209 0 0 6634
Illumina Laboratory Services, Illumina 6 2 582 66 168 0 0 824
Natera, Inc. 34 6 344 28 43 0 0 455
Fulgent Genetics, Fulgent Genetics 51 132 119 45 3 0 0 350
Counsyl 13 163 61 6 1 0 0 244
Genome-Nilou Lab 32 12 102 16 43 0 0 205
Baylor Genetics 67 103 23 0 0 0 0 193
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 144 0 0 0 0 0 145
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 81 62 0 0 0 0 0 143
OMIM 99 0 0 0 0 0 0 99
Mendelics 26 17 4 1 3 0 0 51
Myriad Genetics, Inc. 8 32 5 0 0 0 0 45
Revvity Omics, Revvity 13 7 21 0 0 0 0 41
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 10 14 11 0 1 0 0 36
Neuberg Centre For Genomic Medicine, NCGM 5 16 11 0 0 0 0 32
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 14 6 0 0 0 0 25
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 23 2 0 0 0 25
3billion, Medical Genetics 6 6 8 3 0 0 0 23
UniProtKB/Swiss-Prot 0 0 0 0 0 0 22 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 1 0 10 7 0 0 21
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 8 13 0 0 0 0 0 21
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 5 7 0 1 0 0 19
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 2 10 0 0 0 0 18
New York Genome Center 3 1 14 0 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 3 2 0 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 0 1 11 0 0 15
GeneReviews 4 0 0 0 0 0 10 14
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 8 0 0 14
Genetic Services Laboratory, University of Chicago 9 2 0 0 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 6 1 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 5 3 0 0 10
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 9 0 0 0 1 0 0 10
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 8 0 1 0 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 6 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 1 6 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 8 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 2 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 3 0 0 0 0 7
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 5 1 0 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 3 1 0 0 0 0 6
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 5 0 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 1 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 1 0 0 0 0 5
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2 1 2 0 0 0 0 5
MGZ Medical Genetics Center 4 0 0 0 0 0 0 4
Blueprint Genetics 3 1 0 0 0 0 0 4
Undiagnosed Diseases Network, NIH 2 2 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 0 0 2 2 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 1 0 0 0 0 0 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 4 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 1 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 4
De Paul lab, Instituto de Investigacion En Ciencias de La Salud , Consejo Nacional de Investigaciones Cientificas y Tecnicas 3 1 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 2 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 3
Lifecell International Pvt. Ltd 0 3 0 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 3 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 2 0 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 0 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 2
Laboratory of Genetics in Ophthalmology, Institut Imagine 1 1 0 0 0 0 0 2
Children’s Center Hospital, Tehran University of Medical Sciences 0 0 0 0 0 2 0 2
Pars Genome Lab 0 0 2 0 0 0 0 2
Suma Genomics 0 2 0 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 0 2
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 2 0 0 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Neurogenetics, Cyprus Institute of Neurology and Genetics 0 1 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 1
Clinical Genomics Laboratory, Washington University in St. Louis 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 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 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 1
Tim Yu lab, Boston Children's Hospital 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Child Neurology Division, Pediatrics Department, KAHER's Jawaharlal Nehru Medical College, Belagavi 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 1 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 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 0 1
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 0 0 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 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 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 1 1
Inheritance Genetic Center 0 1 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 1
Firoozgar Clinical Hospital, Iran University of Medical Sciences 0 1 0 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 0 0 1

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