ClinVar Miner

Variants studied for aortic malformation

Included ClinVar conditions (24):
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
133 58 332 110 64 1 3 678

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ELN 71 21 110 58 40 0 1 286
SMAD6 6 3 127 33 11 0 0 176
TBX5 39 5 30 12 8 0 0 94
NOTCH1 7 3 41 6 5 0 2 63
ROBO4 2 11 2 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
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
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
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
TAB2 0 1 0 0 0 0 0 1
ZNF626 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 84 20 213 80 41 0 0 438
Illumina Clinical Services Laboratory,Illumina 0 0 49 29 27 0 0 105
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 Genetics 1 1 13 0 0 0 0 15
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 6 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 0 7
Blueprint Genetics 0 0 4 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 0 3
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
New York Genome Center 0 0 3 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 1 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
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 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
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
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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 0 1

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