ClinVar Miner

Variants studied for Mendelian encephalopathy

Included ClinVar conditions (29):
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 risk factor not provided total
421 177 1253 1008 346 3 27 3117

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MECP2 232 26 238 367 172 0 0 1009
RANBP2 2 6 457 277 88 3 3 818
ETHE1 50 49 73 213 10 0 22 380
SERPINI1 6 0 204 113 23 0 0 340
TBCD 19 24 64 0 11 0 0 110
BSCL2, HNRNPUL2-BSCL2 7 10 71 12 4 0 0 103
DNM1L 18 16 15 4 4 0 0 53
TRAPPC12 7 9 18 1 6 0 0 40
NAXE 14 4 6 0 8 0 0 30
NAXD 9 7 11 2 0 0 0 27
TBCE 3 13 10 0 0 0 0 26
ETHE1, LOC130064595 5 1 10 3 5 0 2 20
LOC130068854, MECP2 3 0 10 4 4 0 0 19
PRNP 7 1 6 4 1 0 0 19
MFF 7 2 7 2 0 0 0 17
MYRF 2 0 12 0 0 0 0 14
LIPT2 3 4 3 2 3 0 0 12
TRAPPC2L 1 3 6 1 0 0 0 10
HMBS 6 0 2 0 1 0 0 9
ANKRD11, TRAPPC2L 2 1 0 2 0 0 0 5
CCDC138, EDAR, RANBP2 0 0 5 0 0 0 0 5
PDCD10, SERPINI1 0 0 3 1 1 0 0 5
B3GALNT2, TBCE 0 0 3 0 0 0 0 3
LIPT2, LOC130006411 0 0 3 0 0 0 0 3
LOC126862673, TBCD 0 1 1 0 1 0 0 3
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, RENBP, TMEM187 2 0 0 0 0 0 0 2
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, RENBP, TMEM187 2 0 0 0 0 0 0 2
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 2 0 0 0 0 2
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 0 2
DNM1L, YARS2 0 0 0 0 2 0 0 2
FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1 2 0 0 0 0 0 0 2
GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 0 2
IRAK1, MECP2 2 0 0 0 0 0 0 2
KCNE3, LIPT2 0 0 1 0 1 0 0 2
LOC130062062, TBCD 0 0 2 0 0 0 0 2
ABCD1, ARHGAP4, ATP2B3, AVPR2, BCAP31, BGN, CCNQ, DUSP9, HAUS7, HCFC1, IDH3G, IRAK1, L1CAM, MAGEA1, MECP2, NAA10, OPN1LW, PDZD4, PLXNB3, PNCK, PNMA6E, RENBP, SLC6A8, SRPK3, SSR4, TMEM187, TREX2, ZFP92, ZNF275 1 0 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TMEM187 1 0 0 0 0 0 0 1
ARHGAP4, AVPR2, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, RENBP, TMEM187 1 0 0 0 0 0 0 1
ARHGAP4, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, RENBP, TMEM187 1 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, MECP2, OPN1LW, OPN1MW, OPN1MW2, PLXNA3, RPL10, SLC10A3, TAFAZZIN, TEX28, TKTL1, UBL4A 1 0 0 0 0 0 0 1
BEND4 0 0 1 0 0 0 0 1
CADM4, CEACAM16, CEACAM19, CEACAM20, ETHE1, IGSF23, IRGC, IRGQ, KCNN4, LYPD5, PINLYP, PLAUR, PVR, SMG9, SRRM5, XRCC1, ZNF112, ZNF155, ZNF180, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF283, ZNF284, ZNF285, ZNF404, ZNF428, ZNF45, ZNF575, ZNF576 0 0 1 0 0 0 0 1
CCDC138, EDAR, LOC126806303, LOC129388897, LOC129388898, LOC129934529, RANBP2 0 0 1 0 0 0 0 1
CEP55 0 0 1 0 0 0 0 1
COL4A2 1 0 0 0 0 0 0 1
DNASE1L1, EMD, FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 1
LOC129937857, PDCD10, SERPINI1 0 0 0 0 1 0 0 1
LOC130010118, LOC130010119, LOC130010120, LOC130010121, NAXD 1 0 0 0 0 0 0 1
OSBPL7 0 0 1 0 0 0 0 1
TBCD, ZNF750 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 283 37 925 953 289 0 0 2487
Fulgent Genetics, Fulgent Genetics 22 30 101 45 2 0 0 200
Baylor Genetics 19 31 55 0 0 0 0 105
OMIM 84 0 1 0 0 3 0 88
Illumina Laboratory Services, Illumina 1 0 38 5 21 0 0 65
Genome-Nilou Lab 0 0 2 0 41 0 0 43
Revvity Omics, Revvity 5 4 29 0 0 0 0 38
Natera, Inc. 6 2 16 6 5 0 0 35
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 24 0 2 0 0 30
GeneReviews 0 0 0 0 0 0 27 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 3 16 1 1 0 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 13 0 0 0 0 0 24
Neuberg Centre For Genomic Medicine, NCGM 5 5 12 0 0 0 0 22
3billion 7 7 4 0 0 0 0 18
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 5 0 4 0 9 0 0 18
Mendelics 5 2 3 4 1 0 0 15
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 7 0 0 0 0 0 15
New York Genome Center 0 1 13 0 0 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 5 5 0 0 0 0 13
RettBASE 9 0 4 0 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 1 1 2 1 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 2 2 7 0 1 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 8 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 8 0 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 5 0 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 0 0 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 2 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 4 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 6 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 1 0 0 0 0 4
Undiagnosed Diseases Network, NIH 0 2 2 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 1 0 0 4
Molecular Genetics Lab, CHRU Brest 2 1 1 0 0 0 0 4
Suma Genomics 3 1 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 2 0 0 0 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 0 1 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 2 0 0 0 0 3
Centre for Population Genomics, CPG 1 1 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 2
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 0 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 2
TIDEX, University of British Columbia 0 0 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 1 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 0 2
Medical Genetics Laboratory, West China Hospital, Sichuan University 2 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 0 2
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 2
Tovana Health 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 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
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Wendy Chung Laboratory, Boston Children's Hospital 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 1 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 0 1
Watson Genetic Lab 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Medical Genetics Laboratory, AJA University of Medical Sciences 1 0 0 0 0 0 0 1

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