ClinVar Miner

Variants studied for KBG syndrome

Coded as:
Minimum submission review status: Collection method:
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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
247 91 618 492 211 5 1598

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
ANKRD11 239 89 604 489 208 5 1571
ANKRD11, LOC128462377 0 0 7 0 0 0 7
ANKRD11, TRAPPC2L 0 1 1 2 2 0 4
ACSF3, ANKRD11, CDH15, SLC22A31, ZNF778 0 0 2 0 0 0 2
ANKRD11, LOC130059812 0 0 0 1 1 0 2
SETD5 2 0 0 0 0 0 2
ACSF3, ANKRD11, APRT, BANP, C16orf95, C16orf95-DT, CA5A, CBFA2T3, CDH15, CDT1, CTU2, CYBA, FBXO31, GALNS, HSALR1, IL17C, JPH3, KLHDC4, LINC00304, LINC02138, LINC02182, LOC100129215, LOC100129697, LOC100287036, LOC101927793, LOC101927817, LOC101928682, LOC101928708, LOC102724467, LOC105371401, LOC105371414, LOC107984862, LOC109029536, LOC110121450, LOC111413011, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC116276453, LOC121587566, LOC121587567, LOC121847999, LOC121848000, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC128462377, LOC129390815, LOC130059690, LOC130059691, LOC130059692, LOC130059693, LOC130059694, LOC130059695, LOC130059696, LOC130059697, LOC130059698, LOC130059699, LOC130059700, LOC130059701, LOC130059702, LOC130059703, LOC130059704, LOC130059705, LOC130059706, LOC130059707, LOC130059708, LOC130059709, LOC130059710, LOC130059711, LOC130059712, LOC130059713, LOC130059714, LOC130059715, LOC130059716, LOC130059717, LOC130059718, LOC130059719, LOC130059720, LOC130059721, LOC130059722, LOC130059723, LOC130059724, LOC130059725, LOC130059726, LOC130059727, LOC130059728, LOC130059729, LOC130059730, LOC130059731, LOC130059732, LOC130059733, LOC130059734, LOC130059735, LOC130059736, LOC130059737, LOC130059738, LOC130059739, LOC130059740, LOC130059741, LOC130059742, LOC130059743, LOC130059744, LOC130059745, LOC130059746, LOC130059747, LOC130059748, LOC130059749, LOC130059750, LOC130059751, LOC130059752, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, LOC130059761, LOC130059762, LOC130059763, LOC130059764, LOC130059765, LOC130059766, LOC130059767, LOC130059768, LOC130059769, LOC130059770, LOC130059771, LOC130059772, LOC130059773, LOC130059774, LOC130059775, LOC130059776, LOC130059777, LOC130059778, LOC130059779, LOC130059780, LOC130059781, LOC130059782, LOC130059783, LOC130059784, LOC130059785, LOC130059786, LOC130059787, LOC130059788, LOC130059789, LOC130059790, LOC130059791, LOC130059792, LOC130059793, LOC130059794, LOC130059795, LOC130059796, LOC130059797, LOC130059798, LOC130059799, LOC130059800, LOC130059801, LOC130059802, LOC130059803, LOC130059804, LOC130059805, LOC130059806, LOC130059807, LOC130059808, LOC130059809, LOC130059810, LOC132090440, LOC132090441, LOC132090442, LOC339059, LOC400553, MAP1LC3B, MIR11401, MIR4722, MIR5189, MIR6775, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, TRM-CAT6-1, ZC3H18, ZCCHC14, ZCCHC14-DT, ZFPM1, ZNF469, ZNF778, ZNF778-DT 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, HSALR1, IL17C, LINC00304, LINC02138, LOC100129697, LOC100287036, LOC101927793, LOC105371414, LOC107984862, LOC110121450, LOC111413011, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC121587566, LOC121587567, LOC121847999, LOC121848000, LOC125177393, LOC125177394, LOC125177395, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC128462377, LOC130059718, LOC130059719, LOC130059720, LOC130059721, LOC130059722, LOC130059723, LOC130059724, LOC130059725, LOC130059726, LOC130059727, LOC130059728, LOC130059729, LOC130059730, LOC130059731, LOC130059732, LOC130059733, LOC130059734, LOC130059735, LOC130059736, LOC130059737, LOC130059738, LOC130059739, LOC130059740, LOC130059741, LOC130059742, LOC130059743, LOC130059744, LOC130059745, LOC130059746, LOC130059747, LOC130059748, LOC130059749, LOC130059750, LOC130059751, LOC130059752, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, LOC130059761, LOC130059762, LOC130059763, LOC130059764, LOC130059765, LOC130059766, LOC130059767, LOC130059768, LOC130059769, LOC130059770, LOC130059771, LOC130059772, LOC130059773, LOC130059774, LOC130059775, LOC130059776, LOC130059777, LOC130059778, LOC130059779, LOC130059780, LOC130059781, LOC130059782, LOC130059783, LOC130059784, LOC130059785, LOC130059786, LOC130059787, LOC130059788, LOC130059789, LOC130059790, LOC130059791, LOC130059792, LOC130059793, LOC130059794, LOC130059795, LOC130059796, LOC130059797, LOC130059798, LOC130059799, LOC132090440, LOC132090441, LOC132090442, LOC339059, MIR4722, MIR5189, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, TRAPPC2L, ZC3H18, ZFPM1, ZNF469, ZNF778, ZNF778-DT 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, HSALR1, IL17C, LINC00304, LINC02138, LOC100129697, LOC100287036, LOC101927793, LOC105371414, LOC110121450, LOC111413011, LOC121587567, LOC121847999, LOC121848000, LOC125177393, LOC125177394, LOC125177395, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC128462377, LOC130059735, LOC130059736, LOC130059737, LOC130059738, LOC130059739, LOC130059740, LOC130059741, LOC130059742, LOC130059743, LOC130059744, LOC130059745, LOC130059746, LOC130059747, LOC130059748, LOC130059749, LOC130059750, LOC130059751, LOC130059752, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, LOC130059761, LOC130059762, LOC130059763, LOC130059764, LOC130059765, LOC130059766, LOC130059767, LOC130059768, LOC130059769, LOC130059770, LOC130059771, LOC130059772, LOC130059773, LOC130059774, LOC130059775, LOC130059776, LOC130059777, LOC130059778, LOC130059779, LOC130059780, LOC130059781, LOC130059782, LOC130059783, LOC130059784, LOC130059785, LOC130059786, LOC130059787, LOC130059788, LOC130059789, LOC130059790, LOC130059791, LOC130059792, LOC130059793, LOC130059794, LOC130059795, LOC130059796, LOC130059797, LOC130059798, LOC130059799, LOC130059800, LOC130059801, LOC130059802, LOC130059803, LOC130059804, LOC130059805, LOC130059806, LOC132090440, LOC132090441, LOC132090442, LOC339059, MIR4722, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, TRAPPC2L, ZC3H18, ZNF778, ZNF778-DT 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, IL17C, LOC101927817, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, SPG7, TRAPPC2L, ZC3H18, ZFPM1, ZNF469, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, GALNS, PABPN1L, SLC22A31, TRAPPC2L, ZNF778 0 0 1 0 0 0 1
ACSF3, ANKRD11, CDH15, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, LOC101927817, RPL13, SLC22A31, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276, ZNF778 0 0 1 0 0 0 1
ANKRD11, CHMP1A, CPNE7, DPEP1, LOC101927817, RPL13, SPATA33, SPG7 0 0 1 0 0 0 1
ANKRD11, LOC101927817, LOC101927863, LOC126862450, LOC128462377, LOC130059801, LOC130059802, LOC130059803, LOC130059804, LOC130059805, LOC130059806, LOC130059807, LOC130059808, LOC130059809, LOC130059810, LOC130059811, LOC130059812, LOC130059813, LOC130059814, LOC130059815, LOC130059816, LOC130059817, LOC130059818, LOC130059819, SPG7 0 1 0 0 0 0 1
ANKRD11, LOC101927817, SPG7 0 0 1 0 0 0 1
ANKRD11, LOC105371414 1 0 0 0 0 0 1
ANKRD11, LOC125177395, LOC130059797, LOC130059798, ZNF778 0 1 0 0 0 0 1
ANKRD11, LOC130059812, LOC130059813, LOC130059814 1 0 0 0 0 0 1
KAT6B 1 0 0 0 0 0 1
TBX1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 83 3 514 477 177 0 1254
Genome-Nilou Lab 0 0 0 0 115 0 115
Baylor Genetics 25 1 22 0 0 0 48
Revvity Omics, Revvity 4 8 25 0 0 0 37
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 21 1 2 3 2 0 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 1 15 3 0 0 27
New York Genome Center 2 1 21 0 0 0 24
Autoinflammatory diseases unit, CHU de Montpellier 19 4 0 0 0 0 23
Genome Medicine, Institute for Basic Research in Developmental Disabilities 15 5 1 0 0 0 21
3billion 12 5 1 0 0 0 18
Fulgent Genetics, Fulgent Genetics 3 0 4 9 1 0 17
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 10 6 0 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 10 4 1 0 0 0 15
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia 14 2 0 0 0 0 15
MGZ Medical Genetics Center 4 5 2 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 2 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 3 2 0 0 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 1 0 0 0 0 8
Molecular Genetics Lab, CHRU Brest 2 6 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 3 0 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 3 0 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 1 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 2 1 1 0 0 6
GenomeConnect - Simons Searchlight 5 0 1 0 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
Centogene AG - the Rare Disease Company 2 2 1 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 1 1 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 4 1 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 0 3 0 0 0 5
OMIM 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 4
Illumina Laboratory Services, Illumina 3 1 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 0 1 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 2 1 0 0 0 4
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 2 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Department of Medical Genetics, National Institute of Health 2 0 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 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
Laboratory of Medical Genetics, University of Torino 2 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Genomics England Pilot Project, Genomics England 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 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 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 1 0 0 0 0 2
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Key Laboratory of Endocrinology, Affiliated Hospital of Jining Medical University 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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