ClinVar Miner

Variants studied for congenital anomaly of the great arteries

Included ClinVar conditions (46):
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
158 64 356 113 68 1 3 739

Gene and significance breakdown #

Total genes and gene combinations: 57
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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
TFAP2B 11 1 14 3 4 0 0 32
ROBO4 2 11 2 0 0 0 0 12
​intergenic 6 2 0 0 0 0 0 8
NF1 0 5 0 0 0 0 0 5
JAG1 0 4 0 0 0 0 0 4
PRDM6 3 0 1 0 0 0 0 4
TBX20 0 0 4 0 0 0 0 4
HYDIN 0 1 1 0 0 0 0 2
KIAA1109 1 0 1 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 2
MYH11 0 0 2 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
ABCC9 1 0 0 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
ARID1A 0 0 1 0 0 0 0 1
BRAF 0 1 0 0 0 0 0 1
CACNA1C 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
GATA4 0 0 1 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
INPP5E 1 0 0 0 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
PDIA2 0 0 1 0 0 0 0 1
PTPN11 1 0 0 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
SOS1 1 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 1
TAB2 0 1 0 0 0 0 0 1
TMCO1 1 0 0 0 0 0 0 1
TNFRSF13B 0 0 1 0 0 0 0 1
TPM1 0 1 0 0 0 0 0 1
VANGL1 0 0 1 0 0 0 0 1
ZNF526 0 1 0 0 0 0 0 1
ZNF626 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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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 61 32 29 0 0 121
OMIM 36 0 0 0 0 0 0 36
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
Baylor Genetics 2 1 15 0 0 0 0 18
Fulgent Genetics,Fulgent Genetics 0 0 18 0 0 0 0 18
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 8 0 0 0 0 13
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
GeneReviews 8 0 0 0 2 0 0 10
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 1 7 0 0 0 0 10
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 6 2 0 0 0 0 0 8
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
New York Genome Center 0 0 5 0 0 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 0 3
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
Molecular Biology Laboratory, University of Basrah 2 1 0 0 0 0 0 3
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
Embryology Laboratory,Victor Chang Cardiac Research Institute 2 0 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
Center for Reproductive Medicine, Peking University Third Hospital 1 0 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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 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
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 0 1 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,American University of Beirut 1 0 0 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 0 1

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