ClinVar Miner

Variants studied for acromelic dysplasia

Included ClinVar conditions (61):
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
383 152 2339 1175 527 58 4391

Gene and significance breakdown #

Total genes and gene combinations: 50
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFT140 53 20 470 456 48 1 948
IFT140, LOC105371046 38 15 251 236 29 0 522
FBN1 40 25 313 70 82 3 511
TRPS1 102 18 158 156 33 34 482
ADAMTS17 5 5 230 31 95 0 363
SMAD4 8 3 166 17 49 5 239
LTBP2 1 1 180 15 36 0 231
PDE4D 12 2 93 13 61 0 181
ADAMTSL2 10 4 121 9 20 5 158
IFT140, LOC126862260 6 6 69 77 5 0 154
GNAS 61 24 36 33 4 2 153
ADAMTS10 8 10 93 16 21 0 147
PRKAR1A 6 2 71 17 23 1 118
FLNA 1 0 29 16 3 1 49
PRMT7 13 11 17 0 5 2 44
IHH 3 2 6 1 3 0 14
FBN1, LOC126862124 0 0 9 2 3 1 13
LTBP3 4 0 3 2 1 3 12
FBN1, LOC130057020 0 0 6 0 1 0 7
ADAMTS17, LOC130058037 1 0 3 0 1 0 5
FBN1, LOC113939944 0 0 2 1 1 0 4
FBN1, LOC130057019 0 0 2 1 2 0 4
ADAMTS10, LOC130063441 0 0 3 0 0 0 3
LOC110120802, LOC130000981, LOC130000982, TRPS1 3 0 0 0 0 0 3
FLNA, LOC107988032 0 0 1 0 1 0 2
LOC110120802, TRPS1 0 0 0 2 0 0 2
WDR19 2 0 0 0 0 0 2
AARD, ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, EIF3H, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, LINC00536, LRATD2, MAL2, MED30, MRPL13, MTBP, MTSS1, MYC, NDUFB9, NSMCE2, NTAQ1, PCAT1, POU5F1B, PVT1, RAD21, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, TRPS1, UTP23, WASHC5, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 0 0 0 0 0 1
ABCA3, ADCY9, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEPTIN12, SLX4, SMIM22, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 0 1 0 0 0 1
ACADL, CPS1, KANSL1L, LANCL1, MAP2, MYL1, RPE, UNC80 0 0 1 0 0 0 1
ADAMTS17, LOC113939942, LOC126862248 0 1 0 0 0 0 1
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, DECR2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, IFT140, JMJD8, LMF1, LUC7L, MCRIP2, METRN, METTL26, MRPL28, MSLN, NHLRC4, NME4, PDIA2, PGAP6, PIGQ, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDL1, RHOT2, RPUSD1, SOX8, SSTR5, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1 1 0 0 0 0 0 1
CLCN7, IFT140, PTX4, TELO2 0 0 1 0 0 0 1
CPQ, GDF6, MTERF3, PTDSS1, SDC2, UQCRB 1 0 0 0 0 0 1
DEPDC1B, LOC123493321, LOC123493322, LOC129993942, LOC129993943, LOC129993944, PART1, PDE4D 0 0 1 0 0 0 1
EIF3H, LINC00536, TRPS1 1 0 0 0 0 0 1
ERBB4, IKZF2, SPAG16 0 0 1 0 0 0 1
EXT1 0 0 0 1 0 0 1
EXT1, LOC130001002 0 0 0 1 0 0 1
FAM20A, PRKAR1A 0 0 0 1 0 0 1
FBN1, LOC113939944, LOC126862125 0 1 0 0 0 0 1
GNAS, LOC130066270 0 1 0 0 0 0 1
IFT140, PTX4, TELO2 0 0 1 0 0 0 1
IFT140, TELO2 1 0 0 0 0 0 1
IFT140, TMEM204 0 0 1 0 0 0 1
LOC129993939, PDE4D 0 0 0 1 0 0 1
LOC130006027, LTBP3 0 0 1 0 0 0 1
LOC130006032, LTBP3 0 0 1 0 0 0 1
PTH1R 0 1 0 0 0 0 1
STMN2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 124
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 157 29 771 894 104 0 1955
Illumina Laboratory Services, Illumina 2 3 1118 183 399 0 1690
Fulgent Genetics, Fulgent Genetics 29 28 456 146 13 0 672
OMIM 106 0 0 0 0 0 106
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 8 53 9 1 0 81
Genome-Nilou Lab 0 0 0 0 66 0 66
GeneReviews 5 0 0 0 0 46 51
Baylor Genetics 8 1 28 0 0 0 37
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 23 0 26
New York Genome Center 1 2 23 0 0 0 26
3billion 13 4 9 0 0 0 26
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 3 17 1 0 0 0 21
Genetics of Obesity Study, University of Cambridge 19 0 0 0 0 0 19
Mendelics 8 2 1 0 3 0 14
Revvity Omics, Revvity 1 1 11 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 5 5 3 0 0 0 13
Johns Hopkins Genomics, Johns Hopkins University 7 2 3 0 1 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 7 0 11
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 11 0 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 6 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 2 2 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 7 1 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 5 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 6 0 0 0 7
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 5 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 6 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 3 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 2 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 2 0 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 3 0 0 0 5
Unit U781; INSERM (Institut National de la Santé Et de la Recherche Médicale) 4 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 3 0 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 3 0 0 0 0 0 3
Eurofins-Biomnis 2 1 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Laboratory of Metabolic Disorders, Peking University First Hospital 2 0 0 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 2
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 2 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 1 0 0 0 2
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana, FISABIO Oftalmología Médica 2 0 0 0 0 0 2
Suma Genomics 1 0 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University 0 2 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Edith Wolfson Medical Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 1
Brunetti-Pierri's lab TIGEM 0 0 0 0 0 1 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 1 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
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Pediatric Department, The First Affiliated Hospital of Guangxi Medical University 1 0 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 1 0 0 0 0 0 1
Clinical Genomics Unit, Sheba Medical Center 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 1 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 1
Medical Genetics, Haseki Training and Research Hospital 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology 1 0 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.