ClinVar Miner

Variants studied for X-linked Emery-Dreifuss muscular dystrophy

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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 total
82 6 188 237 22 524

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EMD 78 6 181 237 22 513
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 2
EMD, FLNA 0 0 2 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 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 1
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 1
ATP6AP1, DNASE1L1, EMD, FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, RPL10, TAFAZZIN, TEX28, TKTL1 0 0 1 0 0 1
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 1 0 0 1
EMD, LOC107988033, LOC130068862, LOC130068863, LOC130068864 1 0 0 0 0 1
EMD, LOC130068864 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 66 2 179 235 22 504
Fulgent Genetics, Fulgent Genetics 1 0 10 3 1 15
OMIM 10 0 0 0 0 10
Genome-Nilou Lab 0 0 5 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 3
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 2 0 1 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 0 0 0 3
3billion 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 1 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 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 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1

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