ClinVar Miner

Variants studied for chromosome 5 disorder

Included ClinVar conditions (12):
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 not provided total
403 157 485 459 170 5 1553

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NSD1 312 118 353 297 120 2 1089
MEF2C 52 31 99 157 27 3 358
LMNB1 1 0 25 3 23 0 51
LOC126807619, NSD1 18 7 5 2 0 0 31
ADAMTS16, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH9, CEP72, CFAP90, CLPTM1L, CMBL, CTNND2, DAP, DNAH5, EXOC3, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX2-DT, IRX4, LINC01194, LINC02899, LPCAT1, LRRC14B, MARCHF11, MARCHF6, MED10, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PLEKHG4B, PRDM9, RETREG1, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622 2 0 0 0 0 0 2
ADAMTS16, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BRD9, CCDC127, CCT5, CDH12, CDH18, CEP72, CFAP90, CLPTM1L, CMBL, CTNND2, DAP, DNAH5, EXOC3, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX2-DT, IRX4, LINC01194, LPCAT1, LRRC14B, MARCHF11, MARCHF6, MED10, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PLEKHG4B, RETREG1, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622 1 0 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, ANKRD33B, ATPSCKMT, BRD9, CCDC127, CCT5, CEP72, CFAP90, CLPTM1L, CMBL, CTNND2, DAP, EXOC3, FASTKD3, ICE1, IRX1, IRX2, IRX2-DT, IRX4, LPCAT1, LRRC14B, MARCHF6, MED10, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PLEKHG4B, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, BRD9, CCDC127, CEP72, CFAP90, CLPTM1L, EXOC3, FASTKD3, ICE1, IRX1, IRX2, IRX2-DT, IRX4, LPCAT1, LRRC14B, MED10, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PLEKHG4B, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 1
ADAMTS2, ARL10, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C5orf47, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, DBN1, DDX41, DOK3, DRD1, DUSP1, EFCAB9, EIF4E1B, ERGIC1, F12, FAF2, FAM153A, FAM153B, FAM193B, FBXW11, FGF18, FGFR4, FLT4, GFPT2, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, HRH2, KIAA1191, LMAN2, LOC100288254, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MRNIP, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NKX2-5, NOP16, NPM1, NSD1, OR2V1, OR2V2, OR2Y1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RACK1, RASGEF1C, RGS14, RMND5B, RNF130, RNF44, RPL26L1, RUFY1, SCGB3A1, SFXN1, SH3PXD2B, SIMC1, SLC34A1, SMIM23, SNCB, SNORA74B, SQSTM1, STC2, STK10, TBC1D9B, THOC3, TMED9, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSPAN17, UBTD2, UIMC1, UNC5A, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 1 0 0 0 0 0 1
ADAMTS2, ARL10, B4GALT7, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, COL23A1, CPLX2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, KIAA1191, LMAN2, LTC4S, MAML1, MGAT4B, MXD3, N4BP3, NHP2, NOP16, NSD1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RGS14, RMND5B, RNF44, RUFY1, SIMC1, SLC34A1, SNCB, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 0 0 1 0 0 0 1
ADGRV1, ARB2A, ARRDC3, CETN3, CRE1, LINC01339, LINC02060, LOC102724637, LOC105379082, LOC110120605, LOC110120640, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121147, LOC121079950, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC126807447, LOC126807448, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC731157, LUCAT1, LYSMD3, MBLAC2, MEF2C, MIR2277, MIR3660, MIR9-2, MIR9-2HG, NR2F1, POLR3G, POU5F2, TMEM161B, TMEM161B-DT 1 0 0 0 0 0 1
ADGRV1, ARRDC3, CETN3, LUCAT1, LYSMD3, MBLAC2, MEF2C, POLR3G 1 0 0 0 0 0 1
ALDH7A1, LMNB1, LMNB1-DT, LOC112997555, LOC129389358, LOC129389359, LOC129994503, LOC129994504, LOC129994505, PHAX, SPMIP10 1 0 0 0 0 0 1
APC 1 0 0 0 0 0 1
ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LMAN2, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 0 0 1
B4GALT7, DBN1, DDX41, DOK3, F12, FAM153A, FAM193B, FGFR4, GRK6, HK3, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PRR7, RAB24, RGS14, SLC34A1, TMED9, UIMC1, UNC5A, ZNF346 1 0 0 0 0 0 1
B4GALT7, DBN1, DDX41, DOK3, F12, FAM193B, GRK6, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PRR7, RAB24, RGS14, SLC34A1, TMED9 0 0 1 0 0 0 1
CDHR2, EIF4E1B, FAF2, FGFR4, GPRIN1, HK3, LINC01574, LMAN2, LOC109279841, LOC110121241, LOC114004391, LOC121099715, LOC121099716, LOC121740633, LOC123575630, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC129389417, LOC129389418, LOC129389419, LOC129995341, LOC129995342, LOC129995343, LOC129995344, LOC129995345, LOC129995346, LOC129995347, LOC129995348, LOC129995349, LOC129995350, LOC129995351, LOC129995352, LOC129995353, LOC129995354, LOC129995355, LOC129995356, LOC129995357, LOC129995358, LOC129995359, LOC129995360, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, LOC129995372, LOC129995373, LOC129995374, LOC129995375, LOC129995376, LOC129995377, LOC129995378, MIR4281, MXD3, NSD1, PRELID1, RAB24, RGS14, RNF44, SNCB, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 0 0 1
CDHR2, EIF4E1B, FAF2, FGFR4, GPRIN1, HK3, LINC01574, LOC109279841, LOC110121241, LOC114004391, LOC121099715, LOC121740633, LOC123575630, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC129389417, LOC129389418, LOC129389419, LOC129995337, LOC129995338, LOC129995339, LOC129995340, LOC129995341, LOC129995342, LOC129995343, LOC129995344, LOC129995345, LOC129995346, LOC129995347, LOC129995348, LOC129995349, LOC129995350, LOC129995351, LOC129995352, LOC129995353, LOC129995354, LOC129995355, LOC129995356, LOC129995357, LOC129995358, LOC129995359, LOC129995360, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, MIR4281, MXD3, NSD1, PRELID1, RAB24, RNF44, SNCB, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 0 0 1
CPLANE1, NIPBL 1 0 0 0 0 0 1
EEF1D 0 1 0 0 0 0 1
FGFR4, LMAN2, MXD3, NSD1, PRELID1, RAB24 1 0 0 0 0 0 1
GH-LCR, SCN4A 1 0 0 0 0 0 1
LOC121740633, NSD1 0 0 1 0 0 0 1
LOC126807619, LOC129995362, NSD1 1 0 0 0 0 0 1
LOC129994186, MEF2C 1 0 0 0 0 0 1
MEF2C, MIR9-2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 168 41 318 411 129 0 1067
Genetic Services Laboratory, University of Chicago 149 25 29 0 0 0 203
Genome-Nilou Lab 53 11 30 40 59 0 193
Fulgent Genetics, Fulgent Genetics 3 2 57 32 7 0 101
Illumina Laboratory Services, Illumina 1 1 30 7 24 0 63
Baylor Genetics 10 5 13 0 0 0 28
Revvity Omics, Revvity 7 2 17 0 0 0 26
OMIM 24 0 0 0 0 0 24
Mendelics 15 3 2 0 3 0 23
Center for Human Genetics, Inc, Center for Human Genetics, Inc 4 5 6 5 1 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 3 2 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 4 2 8 1 0 0 15
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 10 1 1 1 0 0 13
New York Genome Center 0 1 11 0 0 0 12
3billion 4 6 2 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 5 6 0 0 0 11
MGZ Medical Genetics Center 3 3 4 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 5 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 4 1 0 0 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 4 0 0 0 0 8
Institute of Human Genetics, University of Goettingen 1 5 0 1 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 2 2 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 0 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 1 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 4
Department of Medical Genetics, National Institute of Health 4 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 1 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 1 0 0 0 4
DASA 4 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 3
Centogene AG - the Rare Disease Company 1 1 1 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 2 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 0 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 2 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 1 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Centro Hospitalar S Joao, Faculty of Medicine of Porto 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 0 1

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