ClinVar Miner

Variants studied for amyloidosis

Included ClinVar conditions (39):
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
153 243 288 170 116 6 926

Gene and significance breakdown #

Total genes and gene combinations: 85
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTR 95 38 110 90 15 5 319
GSN 6 2 85 44 45 0 171
TP53 1 65 0 0 0 0 65
FGA 9 5 17 7 19 0 55
LYZ 5 0 27 5 17 0 53
APOA1 7 1 15 13 10 0 46
APP 5 4 9 4 0 1 23
BRAF 0 20 0 0 0 0 20
LIG4 2 0 12 0 0 0 14
NRAS 0 14 0 0 0 0 14
B2M 2 6 2 3 0 0 13
HRAS, LRRC56 0 13 0 0 0 0 13
GPNMB 7 2 1 0 0 0 10
OSMR 5 0 1 0 0 0 6
IDH1 0 5 0 0 0 0 5
IL31RA 1 0 0 0 4 0 5
KRAS 1 4 0 0 0 0 5
CDK4 0 4 0 0 0 0 4
PTPN11 0 4 0 0 0 0 4
FGFR3 3 1 0 0 0 0 3
IDH2 0 3 0 0 0 0 3
ITM2B 2 1 0 0 0 0 3
PIK3CA 0 3 0 0 0 0 3
CST3 1 0 1 0 0 0 2
CST3, LOC130065546 0 0 2 0 0 0 2
DSG2, TTR 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
CACNA1C 0 0 0 1 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
MYD88 0 1 0 0 0 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: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 70 27 93 79 12 0 281
Illumina Laboratory Services, Illumina 2 0 91 26 92 0 211
Fulgent Genetics, Fulgent Genetics 16 6 99 67 3 0 191
Database of Curated Mutations (DoCM) 0 139 0 0 0 0 139
OMIM 84 0 0 0 0 1 85
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 19 4 0 1 1 0 25
Mendelics 9 1 3 1 2 0 16
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 2 6 3 0 0 14
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
3billion 4 3 1 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 2 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 6 0 0 0 6
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 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
Baylor Genetics 1 0 1 0 0 0 2
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
DASA 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 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
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
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 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
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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

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