ClinVar Miner

Variants studied for aortic disease

Included ClinVar conditions (58):
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
127 59 253 78 64 1 4 567

Gene and significance breakdown #

Total genes and gene combinations: 76
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ELN 60 17 85 48 40 0 1 236
SMAD6 6 1 67 16 11 0 0 100
TBX5 33 4 22 6 8 0 0 73
NOTCH1 7 3 24 6 5 0 2 46
ROBO4 2 11 1 0 0 0 0 12
FBN1 5 1 1 0 0 0 0 7
NF1 0 5 0 0 0 0 0 5
​intergenic 2 1 1 0 0 0 0 4
JAG1 0 4 0 0 0 0 0 4
TBX20 0 0 4 0 0 0 0 4
DSP 1 0 2 0 0 0 0 3
ADAMTSL2 0 0 2 0 0 0 0 2
CHRNG 1 0 1 0 0 0 0 2
COL5A1 0 1 1 0 0 0 0 2
FBXW4 0 0 2 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 2
OBSL1 0 0 2 0 0 0 0 2
PKD1L1 0 0 2 0 0 0 0 2
TGFBR2 0 0 1 0 0 0 1 2
ABCC6, NOMO3 0 0 1 0 0 0 0 1
ACTA2 0 0 1 0 0 0 0 1
ARF1, BTNL10, C1orf35, GJC2, GUK1, H2AW, H2BU1, H3-4, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A 0 0 1 0 0 0 0 1
ARSL 0 1 0 0 0 0 0 1
CDK8 1 0 0 0 0 0 0 1
CEP85L, PLN 0 0 1 0 0 0 0 1
CHD7 0 0 1 0 0 0 0 1
CHD8 0 0 1 0 0 0 0 1
COL1A1 1 0 0 0 0 0 0 1
COL1A2 0 0 1 0 0 0 0 1
COL2A1 0 0 1 0 0 0 0 1
COL3A1 0 0 1 0 0 0 0 1
COL4A4 0 0 1 0 0 0 0 1
COL5A2 0 0 1 0 0 0 0 1
DGCR6, PRODH, USP18 0 0 1 0 0 0 0 1
DHCR7 1 0 0 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
ELN, LOC113748410 1 0 0 0 0 0 0 1
FBN3 0 0 1 0 0 0 0 1
FGFR2 0 0 1 0 0 0 0 1
FOXE3, LINC01389 0 0 1 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 1
GATA5 0 0 1 0 0 0 0 1
GATA6 0 1 0 0 0 0 0 1
GJB3 0 0 1 0 0 0 0 1
HINT1 1 0 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
KMT2D 0 1 0 0 0 0 0 1
LCTL, SMAD3, SMAD6, ZWILCH 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
MAPK8IP3 0 0 1 0 0 0 0 1
MEGF8 0 1 0 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
MYH7 0 1 0 0 0 0 0 1
MYLK 0 0 0 1 0 0 0 1
OPTN 0 0 1 0 0 0 0 1
PKD1 0 1 0 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 0 1
PTCH1 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
SDHA 0 0 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 0 0 1
SLC37A4 1 0 0 0 0 0 0 1
SMAD3 0 0 1 0 0 0 0 1
SOS2 1 0 0 0 0 0 0 1
TAB2 0 1 0 0 0 0 0 1
TCTN3 0 1 0 0 0 0 0 1
TGFB2 0 0 1 0 0 0 0 1
TTR 0 0 1 0 0 0 0 1
ZNF626 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 66 16 122 47 41 0 0 292
Illumina Clinical Services Laboratory,Illumina 0 0 49 29 27 0 0 105
Centre for Mendelian Genomics,University Medical Centre Ljubljana 12 9 30 0 0 0 0 51
OMIM 24 0 0 0 0 0 0 24
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 20 4 0 0 0 0 0 24
Centre of Medical Genetics, University of Antwerp 3 1 15 0 0 0 0 19
Fulgent Genetics,Fulgent Genetics 0 0 18 0 0 0 0 18
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 11 1 0 0 0 0 12
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
Blueprint Genetics 0 0 5 2 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 2 1 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 0 3
CHLA 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
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 of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Mayo Clinic Genetic Testing 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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 1 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: University of Minnesota 1 0 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
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 0 0 1

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