ClinVar Miner

Variants studied for aortic malformation

Included ClinVar conditions (21):
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
87 36 133 52 17 1 3 324

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ELN 43 8 46 44 11 0 1 149
NOTCH1 7 1 23 6 5 0 2 43
SMAD6 10 0 30 0 0 0 0 40
TBX5 21 1 13 1 1 0 0 37
ROBO4 0 11 1 0 0 0 0 12
NF1 0 5 0 0 0 0 0 5
JAG1 0 4 0 0 0 0 0 4
TBX20 0 0 4 0 0 0 0 4
​intergenic 1 1 0 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 2
OBSL1 0 0 2 0 0 0 0 2
ABCC6, NOMO3 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
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
DSP 1 0 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
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
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
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
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
TAB2 0 1 0 0 0 0 0 1
ZNF626 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 35 5 67 7 3 0 0 117
Illumina Clinical Services Laboratory,Illumina 0 0 22 38 8 0 0 68
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 20 4 0 0 0 0 0 24
OMIM 22 0 0 0 0 0 0 22
Centre of Medical Genetics, University of Antwerp 8 0 11 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 4 1 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 2 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 3 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 0 2
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 2 0 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 1 0 0 0 0 0 2
Baylor Genetics 1 0 0 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
Wendy Chung Laboratory,Columbia University Medical Center 0 0 1 0 0 0 0 1

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