ClinVar Miner

Variants studied for cerebral lipidosis with dementia

Included ClinVar conditions (29):
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
575 545 1534 766 252 2 31 3350

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
CLN3 49 91 200 119 12 0 0 430
HEXA 117 94 134 95 11 2 1 388
CLN6 37 30 168 77 20 0 0 303
PPT1 41 90 127 42 17 0 1 294
CYP27A1 78 42 100 106 21 0 1 291
TPP1 35 51 145 36 27 0 25 278
CTSD 7 2 153 75 19 0 0 239
HEXB 55 54 84 51 13 0 1 228
CLN8 20 46 115 65 6 0 1 222
DNAJC5 3 0 119 31 61 0 0 211
CLN5, FBXL3 25 6 65 24 6 0 0 122
GRN 18 1 40 19 12 0 0 89
GBA, LOC106627981 54 34 5 0 0 0 1 85
CLN5 7 2 48 19 9 0 0 83
MFSD8 4 0 19 1 7 0 0 31
CTSF 10 1 3 4 11 0 0 29
​intergenic 7 0 0 0 0 0 0 7
GFM2, HEXB 0 0 4 2 0 0 0 6
GBA 3 0 1 0 0 0 0 4
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 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, IL27, NUPR1, RABEP2, SGF29, SH2B1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 0 0 1
APOBR, CLN3, IL27, NUPR1, SGF29, SULT1A2 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
GM2A 1 0 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 0 1
SMPD1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 303 70 879 676 126 2 0 2056
Illumina Clinical Services Laboratory,Illumina 10 4 428 50 115 0 0 607
Counsyl 26 247 168 30 1 0 0 472
Natera, Inc. 28 3 175 26 45 0 0 277
OMIM 153 0 0 0 0 0 0 153
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 122 0 0 0 0 0 122
Integrated Genetics/Laboratory Corporation of America 69 24 0 0 0 0 0 93
GeneReviews 72 0 0 0 7 0 0 79
Baylor Genetics 53 9 14 0 0 0 0 76
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 30 31 2 0 0 0 0 62
Myriad Women's Health, Inc. 22 36 0 0 0 0 0 58
Fulgent Genetics,Fulgent Genetics 21 3 24 0 0 0 0 48
Mendelics 13 12 4 4 4 0 0 37
Genomic Research Center, Shahid Beheshti University of Medical Sciences 10 5 8 0 0 0 0 23
UniProtKB/Swiss-Prot 0 0 0 0 0 0 22 22
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 2 1 5 11 0 0 21
Broad Institute Rare Disease Group, Broad Institute 7 4 3 0 3 0 0 17
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 8 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 1 5 5 0 0 14
Genetic Services Laboratory, University of Chicago 10 3 0 0 0 0 0 13
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
Centogene AG - the Rare Disease Company 8 0 0 0 0 0 0 8
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 8 0 0 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 3 2 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 7 0 0 0 0 8
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 3 5 0 0 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 1 5 0 0 7
Institute of Human Genetics, Klinikum rechts der Isar 6 1 0 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 1 2 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 0 0 0 0 1 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 1 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 1 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 4 2 0 0 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 1 0 0 0 0 0 4
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 4 0 0 0 0 0 0 4
Department of Medical Biology, Faculty of Medicine,Hacettepe University 2 2 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 4
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 1 1 0 0 0 0 4
New York Genome Center 2 0 2 0 0 0 0 4
Blueprint Genetics 2 1 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 0 0 0 0 0 3
Kasturba Medical College, Manipal University 1 1 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 1 0 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 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 3
PreventionGenetics, PreventionGenetics 1 1 0 0 0 0 0 2
Sema4,Sema4 1 1 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 1 0 0 2
Yale Center for Mendelian Genomics,Yale University 1 1 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 0 2
GenomeConnect - GM1 0 0 0 0 0 0 2 2
Laboratory of Genetics in Ophthalmology,Institut Imagine 1 1 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 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 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai 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
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 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 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 1
Child Neurology Division, Pediatrics Department,KAHER's Jawaharlal Nehru Medical College, Belagavi 1 0 0 0 0 0 0 1
Biochemical Genetics Department,Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 0 1
Human Genetics Department,Tarbiat Modares University 0 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 0 1

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