ClinVar Miner

Variants studied for Familial thoracic aortic aneurysm and aortic dissection

Coded as:
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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 not provided total
779 791 10846 9389 847 6 21909

Gene and significance breakdown #

Total genes and gene combinations: 79
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 315 331 1457 1059 104 0 3075
NOTCH1 7 4 987 946 84 0 1977
MYH11 2 5 1017 680 56 1 1688
COL3A1 62 128 684 589 57 0 1438
MYLK 4 3 781 446 51 0 1255
FBN2 1 14 518 597 46 0 1175
MYH11, NDE1 1 4 730 420 49 0 1130
TGFBR2 57 67 570 402 30 0 1057
FLNA 12 3 324 639 58 0 1036
SMAD3 140 67 435 334 14 0 930
TGFBR1 57 45 488 327 25 0 899
COL5A1 12 11 284 425 29 0 761
SKI 2 0 329 383 17 0 731
MED12 3 7 246 332 17 0 605
PLOD1 5 6 345 214 18 0 587
COL5A2 0 5 228 266 28 0 526
PRKG1 1 0 192 171 11 3 376
ACTA2 9 14 199 147 3 0 357
CBS 18 10 140 168 9 0 345
SLC2A10 9 8 172 143 21 0 340
TGFB3 6 15 172 91 6 0 281
TGFB2 17 13 150 99 7 0 277
MAT2A 1 0 66 142 17 0 226
COL5A1, LOC101448202 2 2 75 110 10 0 199
FBN1, LOC113939944 5 10 29 21 1 0 63
LOC126860794, NOTCH1 0 0 24 39 2 0 63
FLNA, LOC107988032 1 0 15 41 2 0 59
FBN1, LOC126862124 6 4 25 20 2 0 51
FBN2, LOC126807501 0 0 13 23 2 0 38
LOC130057352, SMAD3 8 1 14 15 2 0 38
ROBO4 0 0 7 1 26 0 34
COL3A1, LOC126806446 3 2 11 16 2 0 32
LOC126806791, MYLK 0 0 20 12 1 0 32
LOC126863275, MED12 0 0 9 20 2 0 31
LOC130002223, TGFBR1 2 0 18 7 3 0 29
FBN1, LOC130057019 0 2 13 10 2 0 21
THSD4 0 1 5 3 12 0 21
LOX, SRFBP1 1 2 4 5 3 0 15
LOC130003020, NOTCH1 0 0 7 5 1 0 12
FOXE3, LINC01389 0 0 3 1 6 0 10
SMAD4 0 1 5 3 1 0 10
EFEMP2 0 0 1 2 4 0 7
ELN 0 0 5 1 0 0 6
LOC126806792, MYLK 0 0 4 1 0 1 6
TGFBR3 0 0 1 5 0 0 6
EMILIN1 0 0 5 0 0 0 5
FBN1, LOC130057020 0 0 5 0 0 0 5
ARIH1 0 0 0 1 2 0 3
BGN 3 0 0 0 0 0 3
GATA5 0 0 2 1 0 0 3
MFAP5 0 2 0 0 0 1 3
SMAD2 0 1 0 0 2 0 3
ATP2B3, BGN, LOC130068823, LOC130068824 2 0 0 0 0 0 2
COL1A1 0 2 0 0 0 0 2
COL3A1, MIR3606 0 0 0 2 0 0 2
AAGAB, SMAD3 1 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NTAN1, PDXDC1, PLA2G10, RRN3 0 0 1 0 0 0 1
ACTL6A 0 0 0 1 0 0 1
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA 0 0 1 0 0 0 1
ALG2, LOC121331339, LOC130002223, LOC130002224, LOC130002225, LOC130002226, LOC130002227, LOC130002228, LOC132089611, LOC132089612, LOC132090795, TGFBR1 1 0 0 0 0 0 1
BRCC3, FLNA 0 0 1 0 0 0 1
CCDC22 0 0 0 0 1 0 1
CIC 0 0 1 0 0 0 1
COL4A1 0 0 1 0 0 0 1
EFEMP2, MUS81 0 0 0 0 1 0 1
FLNA, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1 0 0 1 0 0 0 1
GJC2 0 0 1 0 0 0 1
JAG1 0 1 0 0 0 0 1
KDM5B 0 0 1 0 0 0 1
KMT2D 0 0 0 1 0 0 1
LOC110120917, LOC111365216, LOC111413015, LOC111413043, LOC121530586, LOC121847954, LOC125110346, LOC125110347, LOC125110348, LOC126862158, LOC126862159, LOC126862160, LOC130057347, LOC130057348, LOC130057349, LOC130057350, LOC130057351, LOC130057352, LOC130057353, LOC130057354, LOC130057355, LOC130057356, LOC130057357, LOC130057358, LOC130057359, LOC130057360, LOC132090322, LOC132090323, LOC132090324, LOC132090325, SMAD3, SMAD3-DT, SMAD6, SMASR 1 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 1 0 0 0 0 0 1
LOC126861443, MFAP5 0 0 1 0 0 0 1
LOC129936399, TGFBR2 0 0 1 0 0 0 1
MIR4673, NOTCH1 0 0 0 1 0 0 1
MTOR 0 0 1 0 0 0 1
PTPN11 0 0 0 1 0 0 1
SAMD9 0 0 1 0 0 0 1
SMAD3, SMAD6 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 510 499 6871 6922 474 0 15276
Color Diagnostics, LLC DBA Color Health 41 72 3161 2596 215 0 6085
Labcorp Genetics (formerly Invitae), Labcorp 245 99 1092 974 78 0 2488
All of Us Research Program, National Institutes of Health 2 1 887 556 59 0 1505
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 44 118 501 313 312 0 1288
Illumina Laboratory Services, Illumina 0 2 129 43 21 0 195
Centre of Medical Genetics, University of Antwerp 5 1 100 0 0 0 106
Blueprint Genetics 1 2 39 9 2 0 53
Centre for Genomic and Experimental Medicine, University of Edinburgh 16 26 0 0 0 0 42
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 1 18 4 1 0 25
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 10 12 0 0 25
GeneDx 4 1 0 1 10 0 16
Molecular Genetics, Royal Melbourne Hospital 4 1 8 2 0 0 15
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 3 11 0 0 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 5 2 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 5 0 0 0 6
Département de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris 0 6 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 1 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 1 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Department of Laboratory Medicine and Genetics, Samsung Medical Center 1 0 0 0 0 0 1
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 1 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1

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