ClinVar Miner

Variants studied for KBG syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
337 161 929 704 237 5 2283

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ANKRD11 328 157 910 701 234 5 2250
ANKRD11, LOC128462377 0 0 8 0 0 0 8
ANKRD11, TRAPPC2L 0 2 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, LOC400553, MAP1LC3B, MIR11401, MIR4722, MIR5189, MIR6775, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, TRM-CAT6-1, ZC3H18, ZC3H18-DT, ZCCHC14, ZCCHC14-DT, ZFPM1, ZNF469, ZNF778, ZNF778-DT 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, BANP, CA5A, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, IL17C, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, TRAPPC2L, ZC3H18, ZFPM1, ZNF469, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDK10, CDT1, CENPBD1, CHMP1A, CPNE7, CTU2, CYBA, DBNDD1, DEF8, DPEP1, DRC4, FANCA, GALNS, GAS8, LOC101927817, MC1R, MVD, PABPN1L, PIEZO1, RNF166, RPL13, SLC22A31, SNAI3, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TRAPPC2L, TUBB3, VPS9D1, ZNF276, ZNF778 0 0 1 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, MIR4722, MIR5189, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, TRAPPC2L, ZC3H18, ZC3H18-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, 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, 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 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
ANKRD11, SPG7 0 0 1 0 0 0 1
COL2A1 0 1 0 0 0 0 1
KAT6B 1 0 0 0 0 0 1
TBX1 1 0 0 0 0 0 1
TTF2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 123
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 119 6 802 678 203 0 1808
Genome-Nilou Lab 0 0 0 0 115 0 115
Baylor Genetics 25 1 22 0 0 0 48
3billion 22 15 4 4 0 0 45
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 19 3 16 5 0 0 43
Revvity Omics, Revvity 4 8 29 0 0 0 41
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 19 10 0 0 0 34
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 21 1 2 3 2 0 29
Fulgent Genetics, Fulgent Genetics 4 1 13 9 1 0 28
Autoinflammatory diseases unit, CHU de Montpellier 22 4 0 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 5 8 11 0 25
New York Genome Center 2 1 22 0 0 0 25
Institute of Human Genetics, University of Leipzig Medical Center 18 4 2 0 0 0 24
Genome Medicine, Institute for Basic Research in Developmental Disabilities 15 5 1 0 0 0 21
Variantyx, Inc. 16 4 0 0 0 0 20
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 10 6 0 0 0 0 16
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia 14 2 0 0 0 0 15
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 10 2 0 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 3 0 0 11
MGZ Medical Genetics Center 4 5 2 0 0 0 11
Institute of Human Genetics Munich, TUM University Hospital 9 1 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 3 2 0 0 9
Department of Human Genetics, Hannover Medical School 2 7 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 2 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 3 0 0 0 8
Molecular Genetics Lab, CHRU Brest 2 6 0 0 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 1 0 0 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 3 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 4 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 5 2 0 0 0 0 7
The Purple Gene Clinic, Mumbai 1 6 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
Neuberg Centre For Genomic Medicine, NCGM 2 0 4 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 1 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 2 1 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 5 0 0 0 0 0 5
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 4 1 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 2 0 0 0 5
MVZ Martinsried, Medicover Genetics 3 1 1 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
Center of Human Genetics, Hôpital Erasme 3 1 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 1 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 2 1 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 0 1 0 0 0 4
Illumina Laboratory Services, Illumina 3 1 0 0 0 0 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 1 0 0 0 0 4
MVZ Medizinische Genetik Mainz 1 3 0 0 0 0 4
Molecular Genetics Laboratory, Motol Hospital 4 0 0 0 0 0 4
OMIM 4 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 0 0 0 4
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 2 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 1 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 1 2 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 0 0 0 0 0 3
Department of Medical Genetics, National Institute of Health 2 0 1 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomics England Pilot Project, Genomics England 3 0 0 0 0 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
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 3 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 2 1 0 0 0 0 3
Mendelics 0 2 1 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
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
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 0 2 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
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genetics Department, Catlab 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 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
Dasa 0 1 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Key Laboratory of Endocrinology, Affiliated Hospital of Jining Medical University 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
Lyon Laboratory, Cold Spring Harbor Laboratory 1 0 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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