ClinVar Miner

Variants studied for Kleefstra syndrome 1

Coded as:
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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
88 47 459 923 249 16 1736

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EHMT1 74 41 432 882 240 16 1639
EHMT1, LOC130003135 0 2 9 29 6 0 46
EHMT1, LOC130003148 2 0 13 11 3 0 29
CACNA1B, EHMT1, LOC651337 3 0 1 0 0 0 4
EHMT1, LOC651337 2 0 1 0 0 0 3
ABCA2, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, ANAPC2, ARRDC1, BRD3, C8G, C9orf163, CACFD1, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, COL5A1, CYSRT1, DBH, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FAM163B, FBXW5, FCN1, FCN2, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, MYMK, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PNPLA7, PPP1R26, PTGDS, QSOX2, RABL6, REXO4, RNF208, RNF224, RNU6ATAC, RXRA, SAPCD2, SARDH, SEC16A, SLC2A6, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STKLD1, STPG3, SURF1, SURF2, SURF4, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, VAV2, WDR5, ZMYND19 0 0 1 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 1 0 0 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, KCNT1, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 1 0 0 0 0 0 1
ABCC9 0 1 0 0 0 0 1
ANAPC2, ARRDC1, CACNA1B, CIMIP2A, CYSRT1, DPH7, EHMT1, ENTPD8, EXD3, GRIN1, LOC651337, LRRC26, MRPL41, NDOR1, NELFB, NOXA1, NRARP, NSMF, PNPLA7, RNF208, RNF224, SLC34A3, SSNA1, STPG3, TMEM203, TMEM210, TOR4A, TPRN, TUBB4B, ZMYND19 1 0 0 0 0 0 1
ANAPC2, ARRDC1, CIMIP2A, CYSRT1, DPH7, EHMT1, ENTPD8, EXD3, GRIN1, LOC651337, LRRC26, MRPL41, NDOR1, NELFB, NOXA1, NRARP, NSMF, PNPLA7, RNF208, RNF224, SLC34A3, SSNA1, STPG3, TMEM203, TMEM210, TOR4A, TPRN, TUBB4B, ZMYND19 1 0 0 0 0 0 1
CACNA1B, EHMT1 0 0 0 1 0 0 1
EHMT1, LOC124375254, LOC130003138, LOC130003139 0 1 0 0 0 0 1
EHMT1, LOC126860799, LOC130003148, LOC651337 0 1 0 0 0 0 1
EHMT1, LOC130003140, LOC130003141, LOC130003142, LOC130003143, LOC130003144 0 1 0 0 0 0 1
EHMT1, LOC130003141, LOC130003142 1 0 0 0 0 0 1
EHMT1, LOC130003149, LOC130003150 0 0 1 0 0 0 1
KMT2C 1 0 0 0 0 0 1
NR1I3 0 0 1 0 0 0 1
PAEP 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 39 14 411 911 249 0 1624
Revvity Omics, Revvity 0 0 20 4 0 0 24
GeneReviews 0 0 0 0 0 16 16
Fulgent Genetics, Fulgent Genetics 0 0 10 4 1 0 15
Baylor Genetics 6 2 5 0 0 0 13
Mendelics 5 1 1 3 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 4 2 3 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 5 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 2 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 2 0 0 0 0 6
OMIM 4 0 1 0 0 0 5
Illumina Laboratory Services, Illumina 0 0 2 3 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 1 0 0 0 5
New York Genome Center 0 1 4 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 3 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Laboratory of Medical Genetics, University of Torino 4 0 0 0 0 0 4
3billion 4 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 2 0 0 0 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 2 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 1 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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