ClinVar Miner

Variants studied for aortic disorder

Included ClinVar conditions (38):
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 association not provided total
203 93 1129 748 315 4 13 2433

Gene and significance breakdown #

Total genes and gene combinations: 58
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ELN 107 32 333 262 76 0 3 773
NOTCH1 8 10 263 186 180 0 7 636
SMAD6 8 9 408 182 14 0 1 611
TBX5 65 9 78 105 27 0 0 284
LOC126860794, NOTCH1 1 1 4 9 9 0 1 25
ROBO4 2 15 10 1 0 0 0 25
NF1 0 5 0 0 0 0 0 5
JAG1 0 4 0 0 0 0 0 4
LOC130003020, NOTCH1 0 0 3 0 1 0 0 4
TBX20 0 0 4 0 0 0 0 4
TGFBR2 0 0 0 0 3 0 1 4
​intergenic 2 1 0 0 0 0 0 3
FBN1 1 0 2 0 0 0 0 3
ARIH1 0 0 0 0 0 2 0 2
DSP 1 0 1 0 0 0 0 2
ELN, LOC113748410 2 0 0 0 0 0 0 2
MIR4673, NOTCH1 0 0 0 1 1 0 0 2
MT-ATP6 1 1 0 0 0 0 0 2
OBSL1 0 0 2 0 0 0 0 2
SMAD3 0 0 0 0 2 0 0 2
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CCDC183, CLIC3, CYSRT1, DIPK1B, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FAM166A, FBXW5, FUT7, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, 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 0 1
ABCC6, NOMO3 0 0 1 0 0 0 0 1
ABHD11, CLDN3, CLDN4, EIF4H, ELN, LIMK1, METTL27, TMEM270 1 0 0 0 0 0 0 1
ACTA2 0 0 0 0 1 0 0 1
ARF1, BTNL10, C1orf35, GJC2, GUK1, H2AC25, H2BC26, H3-4, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A 0 0 1 0 0 0 0 1
ARIH1, LOC130057478 0 0 0 0 0 1 0 1
BLK, CTSB, DEFB134, DEFB135, DEFB136, FDFT1, GATA4, NEIL2 0 1 0 0 0 0 0 1
COL3A1 0 0 1 0 0 0 0 1
COL5A1 0 0 1 0 0 0 0 1
DGCR6, PRODH, USP18 0 0 1 0 0 0 0 1
DPY19L1, NPSR1, TBX20 0 0 1 0 0 0 0 1
DSG1 0 1 0 0 0 0 0 1
FBN3 0 0 1 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 1
GATA4 0 1 0 0 0 0 0 1
GATA5 0 0 1 0 0 0 0 1
GATA6 0 1 0 0 0 0 0 1
HRAS, LRRC56 0 0 0 1 0 0 0 1
KLF12 0 0 1 0 0 0 0 1
LCTL, SMAD3, SMAD6, ZWILCH 1 0 0 0 0 0 0 1
LOC110120917, LOC111413015, LOC111413043, LOC121847954, LOC125110346, LOC125110347, LOC126862158, LOC126862159, LOC126862160, LOC130057347, LOC130057348, LOC130057349, LOC130057350, LOC130057351, LOC130057352, LOC132090322, LOC132090323, SMAD3, SMAD3-DT, SMAD6, SMASR 0 0 1 0 0 0 0 1
LOC126859827, TAB2 0 1 0 0 0 0 0 1
LOC130057352, SMAD3 1 0 0 0 0 0 0 1
LRRC38, PDPN 0 0 1 0 0 0 0 1
LSM1 0 0 1 0 0 0 0 1
MT-ATP8 1 0 0 0 0 0 0 1
MYH11 0 0 1 0 0 0 0 1
MYH11, NDE1 0 0 1 0 0 0 0 1
MYLK 0 0 0 1 0 0 0 1
PDIA2 0 0 1 0 0 0 0 1
PTPRJ 0 0 1 0 0 0 0 1
RNF213 0 1 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 0 0 1
TGFB2 0 0 1 0 0 0 0 1
TGFBR1 0 0 0 0 1 0 0 1
THSD1 0 0 1 0 0 0 0 1
ZNF626 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 145 30 760 527 103 0 0 1565
Genome-Nilou Lab 0 0 217 178 192 0 0 587
Illumina Laboratory Services, Illumina 0 0 51 29 27 0 0 107
Fulgent Genetics, Fulgent Genetics 0 2 59 24 9 0 0 94
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 21 5 0 0 0 0 0 26
OMIM 24 0 0 0 0 0 0 24
Baylor Genetics 1 4 18 0 0 0 0 23
Centre of Medical Genetics, University of Antwerp 3 1 15 0 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 1 0 0 0 13
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 11 1 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 7 0 0 0 0 11
Yale Center for Mendelian Genomics, Yale University 0 11 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 5 0 0 11
University of Washington Center for Mendelian Genomics, University of Washington 0 7 0 0 0 3 0 10
Revvity Omics, Revvity 0 1 7 0 0 0 0 8
Blueprint Genetics 0 0 5 2 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 1 6 0 0 0 0 7
New York Genome Center 0 0 7 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 7 7
Cohesion Phenomics 0 0 0 0 7 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 3 1 0 0 0 5
Genomic Medicine Lab, University of California San Francisco 2 2 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 0 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 3 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 1 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 3 0 0 0 0 3
Molecular Biology Laboratory, University of Basrah 2 1 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 0 0 3
3billion 2 1 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 2 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 0 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Cardiology, Hunan Children’s Hospital 1 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 0 1

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