ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (33):
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 not provided total
314 105 5429 3545 996 17 9873

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNE1 102 33 2181 1516 392 2 3989
SYNE2 2 4 1906 1147 407 4 3238
SUN1 0 0 242 185 51 0 478
EMD 76 15 171 219 25 0 473
FHL1 65 11 157 137 16 1 383
MYH7 24 18 175 45 17 2 277
GTPBP1, SUN2 0 0 128 81 17 0 226
LMNA 25 13 118 27 12 7 194
SUN2 0 0 79 71 13 0 163
LOC126859837, SYNE1 3 1 42 35 6 0 83
TMEM43 2 1 44 7 8 0 62
ESR1, SYNE1 0 0 37 13 12 0 61
LOC126861897, MHRT, MYH7 1 2 34 2 3 0 42
LOC129997480, SYNE1 1 0 20 19 3 0 40
LOC126859838, SYNE1 1 0 14 16 1 0 30
MHRT, MYH7 0 1 18 3 2 0 23
LOC126859921, SUN1 0 0 11 7 1 0 19
LOC126861898, MYH7 1 4 10 2 0 0 17
LOC126859836, SYNE1 0 0 7 6 4 0 16
LMNA, LOC126805877 2 1 8 3 1 0 13
LOC130055816, SYNE2 0 0 6 0 3 0 9
LMNA, LOC129931597 1 1 3 1 1 1 7
LOC126861897, MYH7 0 0 5 1 0 0 6
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 1 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 2
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ADGRG4, BRS3, CD40LG, FHL1, HTATSF1, MAP7D3, VGLL1 1 0 0 0 0 0 1
ANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CBY1, CDC42EP1, CIMIP4, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, EIF3L, ELFN2, FAM227A, GALR3, GCAT, GGA1, GTPBP1, H1-0, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, MAFF, MFNG, MICALL1, MIR659, MPST, NCF4, NOL12, PDXP, PICK1, PLA2G6, POLR2F, PVALB, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, SUN2, TMEM184B, TMPRSS6, TOMM22, TRIOBP, TST 0 0 1 0 0 0 1
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, RPL10, TAFAZZIN, TEX28, TKTL1 0 0 1 0 0 0 1
DNAAF5, FAM20C, PDGFA, PRKAR1B, SUN1 0 0 1 0 0 0 1
DNAAF5, SUN1 0 0 1 0 0 0 1
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 1 0 0 0 1
EMD, LOC107988033, LOC130068862, LOC130068863, LOC130068864 1 0 0 0 0 0 1
EMD, LOC130068864 0 0 1 0 0 0 1
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 1
FBXO5, MTRF1L, MYCT1, OPRM1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 1
LZTR1 1 0 0 0 0 0 1
MIR208B, MYH7 0 0 1 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 1
TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 219 36 4515 3318 588 0 8676
Illumina Laboratory Services, Illumina 0 2 445 170 660 0 1273
Fulgent Genetics, Fulgent Genetics 21 18 317 96 17 0 469
Revvity Omics, Revvity 2 3 338 17 0 0 360
Genome-Nilou Lab 0 0 5 0 61 0 66
Baylor Genetics 8 7 49 0 0 0 64
Natera, Inc. 0 0 35 13 6 0 54
OMIM 42 0 1 0 0 0 43
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 17 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 12 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 1 2 12 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 4 8 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 4 0 0 0 0 12
MGZ Medical Genetics Center 0 5 6 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 1 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 3 3 1 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 3 3 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Athena Diagnostics 2 2 0 0 1 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 3 0 0 0 5
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 3 1 1 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 3 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 2 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 1 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 1 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 2 1 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
Mendelics 1 0 0 0 1 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Department of Medical Genetics, National Institute of Health 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Breda Genetics srl 0 1 0 1 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
3billion 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 1

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