ClinVar Miner

Variants studied for amyloidosis

Included ClinVar conditions (43):
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 not provided total
170 136 513 196 116 5 1069

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
TTR 98 48 124 104 15 5 354
GSN 8 2 163 52 45 0 256
FGA 10 12 85 7 19 0 127
APOA1 10 1 47 14 10 0 79
LYZ 5 0 45 8 17 0 72
LIG4 6 8 15 0 0 0 29
APP 7 5 11 4 0 0 27
B2M 2 2 8 3 0 0 15
GPNMB 8 3 1 0 0 0 12
OSMR 5 1 2 0 0 0 7
IL31RA 1 0 0 0 4 0 5
DSG2, TTR 0 0 4 0 0 0 4
TP53 2 2 0 0 0 0 4
FGFR3 3 0 0 0 0 0 3
ITM2B 2 1 0 0 0 0 3
KRAS 1 2 0 0 0 0 3
CST3 1 0 1 0 0 0 2
CST3, LOC130065546 0 0 2 0 0 0 2
FAT1 0 2 0 0 0 0 2
KMT2C 0 2 0 0 0 0 2
TET2 0 2 0 0 0 0 2
TTN 0 0 0 1 1 0 2
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, CHODL, CXADR, CYYR1, GABPA, HSPA13, JAM2, LIPI, MIR125B2, MIR155, MIR99A, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, TMPRSS15, USP25 1 0 0 0 0 0 1
AKAP9 0 0 0 0 1 0 1
ARID4A 0 1 0 0 0 0 1
ATM 0 1 0 0 0 0 1
AURKA 0 1 0 0 0 0 1
BAP1 0 1 0 0 0 0 1
BARD1 0 1 0 0 0 0 1
BCORL1 0 1 0 0 0 0 1
BRAF 0 1 0 0 0 0 1
BRCA2 0 1 0 0 0 0 1
CACNA1C 0 0 0 1 0 0 1
CCND1 0 0 1 0 0 0 1
CDKN2C 0 1 0 0 0 0 1
CRBN, TRNT1 0 1 0 0 0 0 1
CREBBP 0 1 0 0 0 0 1
CST3, LOC130065547 0 0 0 0 1 0 1
CYLD 0 1 0 0 0 0 1
DIS3 0 1 0 0 0 0 1
DNMT3A 0 1 0 0 0 0 1
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR 0 0 1 0 0 0 1
DSP 0 0 1 0 0 0 1
EIF1AX 0 1 0 0 0 0 1
ERF 0 1 0 0 0 0 1
FLT3 0 1 0 0 0 0 1
H1-4 0 1 0 0 0 0 1
H2AC16 0 1 0 0 0 0 1
H2AC17 0 1 0 0 0 0 1
H3C1 0 1 0 0 0 0 1
HDAC4 0 1 0 0 0 0 1
IL7R 0 1 0 0 0 0 1
ITM2B, LOC130009751 0 0 1 0 0 0 1
ITM2B, LOC130009752 0 0 1 0 0 0 1
KDM5C, LOC130068308 0 1 0 0 0 0 1
KMT2D 0 1 0 0 0 0 1
LATS1 0 1 0 0 0 0 1
LOC130063979, PIK3R2 0 1 0 0 0 0 1
MGA 0 1 0 0 0 0 1
MST1R 0 1 0 0 0 0 1
MYBPC3 0 0 0 0 1 0 1
MYL3 0 0 0 1 0 0 1
NCOR2 0 1 0 0 0 0 1
NF1 0 1 0 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 0 1
P2RY8 0 1 0 0 0 0 1
PIK3R2 0 1 0 0 0 0 1
PKP2 0 0 0 1 0 0 1
RECQL4 0 1 0 0 0 0 1
RXRA 0 1 0 0 0 0 1
SAMHD1 0 1 0 0 0 0 1
SGK1 0 1 0 0 0 0 1
SH2B3 0 1 0 0 0 0 1
TCF3 0 1 0 0 0 0 1
TET3 0 1 0 0 0 0 1
TMPO 0 0 0 0 1 0 1
TNNI3 0 0 0 0 1 0 1
TRAF5 0 1 0 0 0 0 1
YAP1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 24 22 317 80 3 0 446
Labcorp Genetics (formerly Invitae), Labcorp 75 33 106 92 12 0 318
Illumina Laboratory Services, Illumina 2 0 91 26 92 0 211
OMIM 89 0 0 0 0 0 89
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 52 0 0 0 0 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 4 0 1 1 0 27
Mendelics 9 1 3 1 2 0 16
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 2 6 3 0 0 15
Genome-Nilou Lab 0 0 0 0 14 0 14
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 0 0 5 5 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 3 5 1 0 0 0 9
3billion, Medical Genetics 4 3 1 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 2 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 2 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 6 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 4 0 0 0 5
Revvity Omics, Revvity 1 1 2 0 0 0 4
MGZ Medical Genetics Center 1 1 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 0 4
Amyloidosis Center, Boston University School of Medicine 4 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 1 2 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 3 1 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
DASA 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Biotechnology, Institute of Science, Nirma University 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic de Barcelona_IDIBAPS 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Department of Ophthalmology, Flinders Medical Centre 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 0 1 0 0 0 1
Genetic Medico-Diagnostic Laboratory Genica 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 1

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