ClinVar Miner

Variants studied for Kleefstra syndrome

Included ClinVar conditions (6):
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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
112 73 610 933 251 18 1945

Gene and significance breakdown #

Total genes and gene combinations: 24
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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
KMT2C 23 26 146 8 2 2 201
EHMT1, LOC130003135 0 2 9 29 6 0 46
EHMT1, LOC130003148 2 0 13 11 3 0 29
KMT2C, LOC123956272 0 0 3 2 0 0 5
CACNA1B, EHMT1, LOC651337 3 0 1 0 0 0 4
EHMT1, LOC651337 2 0 2 0 0 0 4
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
ABCF2, AGAP3, ASB10, ASIC3, CDK5, CHPF2, CRYGN, FASTK, GALNT11, GALNTL5, GBX1, KMT2C, MIR671, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86, XRCC2 1 0 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
GALNT11, KMT2C, LOC123956272, LOC126860227, LOC129389938, LOC129999675 1 0 0 0 0 0 1
KMT2C, LINC01003, LOC123956272, LOC123956273, LOC129389938, LOC129999676, LOC129999677, LOC129999678, LOC129999679, LOC129999680, LOC129999681, LOC129999682, LOC129999683, LOC129999684 0 0 1 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: 80
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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 2 79 4 0 0 85
Fulgent Genetics, Fulgent Genetics 0 0 14 14 1 0 29
New York Genome Center 1 1 27 0 0 0 29
Baylor Genetics 6 4 15 0 0 0 25
Institute of Human Genetics, University of Leipzig Medical Center 6 4 10 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 15 0 0 0 19
GeneReviews 0 0 0 0 0 16 16
Mendelics 6 1 2 3 0 0 12
OMIM 9 0 1 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 5 2 0 0 9
3billion 4 4 1 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 7 0 0 0 9
MGZ Medical Genetics Center 2 3 3 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 4 0 0 0 0 6
Illumina Laboratory Services, Illumina 0 0 3 3 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 2 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 3 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 0 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 1 0 0 0 5
Laboratory of Medical Genetics, University of Torino 4 1 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 2 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 3 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 2 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 1 0 0 0 3
Undiagnosed Diseases Network, NIH 1 2 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 3 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 1 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 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 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
BioTalentum Ltd. 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 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
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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