ClinVar Miner

Variants studied for amyloidosis (disease)

Included ClinVar conditions (29):
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
110 211 168 49 104 1 627

Gene and significance breakdown #

Total genes and gene combinations: 80
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTR 66 20 73 23 12 1 181
GSN 2 0 36 8 43 0 89
TP53 0 65 0 0 0 0 65
LYZ 5 0 25 4 17 0 50
FGA 4 0 14 4 19 0 41
APOA1 5 0 9 6 7 0 27
BRAF 0 20 0 0 0 0 20
NRAS 0 14 0 0 0 0 14
HRAS, LRRC56 0 13 0 0 0 0 13
APP 5 1 2 0 0 0 8
B2M 2 5 0 0 0 0 7
GPNMB 6 1 0 0 0 0 7
OSMR 5 0 1 0 0 0 6
IDH1 0 5 0 0 0 0 5
KRAS 1 4 0 0 0 0 5
CDK4 0 4 0 0 0 0 4
LIG4 1 0 3 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 0 1 0 0 0 3
PIK3CA 0 3 0 0 0 0 3
CST3 1 0 1 0 0 0 2
FAT1 0 2 0 0 0 0 2
IL31RA 1 0 0 0 1 0 2
KMT2C 0 2 0 0 0 0 2
PIK3R2 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
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
DSG2, 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
KDM5C 0 1 0 0 0 0 1
KMT2D 0 1 0 0 0 0 1
LATS1 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
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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 91 26 92 0 211
Database of Curated Mutations (DoCM) 0 139 0 0 0 0 139
Invitae 36 15 59 17 8 0 135
OMIM 84 0 0 0 0 0 84
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 52 0 0 0 0 53
Integrated Genetics/Laboratory Corporation of America 16 3 0 1 1 0 21
Mendelics 5 1 4 1 1 0 12
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 0 0 5 5 0 11
Fulgent Genetics,Fulgent Genetics 5 0 3 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 2 0 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 4 1 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 6 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Amyloidosis Center,Boston University School of Medicine 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Alzheimer's disease and other cognitive disorders unit,Hospital Clínic de Barcelona_IDIBAPS 1 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 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

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