ClinVar Miner

Variants studied for amyloidosis (disease)

Included ClinVar conditions (18):
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 total
90 146 92 49 20 388

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTR 48 7 32 8 6 93
TP53 0 64 0 0 0 64
GSN 2 0 26 19 6 53
LYZ 5 0 12 11 5 33
FGA 4 0 13 5 3 25
BRAF 0 20 0 0 0 20
APOA1 5 0 6 6 0 17
NRAS 0 14 0 0 0 14
HRAS, LRRC56 0 13 0 0 0 13
B2M 1 5 0 0 0 6
GPNMB 6 0 0 0 0 6
APP 5 0 0 0 0 5
IDH1 0 5 0 0 0 5
OSMR 5 0 0 0 0 5
CDK4 0 4 0 0 0 4
PTPN11 0 4 0 0 0 4
FGFR3 3 1 0 0 0 3
IDH2 0 3 0 0 0 3
LIG4 1 0 2 0 0 3
PIK3CA 0 3 0 0 0 3
ITM2B 2 0 0 0 0 2
KRAS 0 2 0 0 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 1
CST3 1 0 0 0 0 1
DSP 0 0 1 0 0 1
IL31RA 1 0 0 0 0 1
MYD88 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Database of Curated Mutations (DoCM) 0 139 0 0 0 139
Illumina Clinical Services Laboratory,Illumina 1 0 66 41 14 122
OMIM 84 0 0 0 0 84
Invitae 10 4 21 7 6 48
Integrated Genetics/Laboratory Corporation of America 14 2 0 1 1 18
Fulgent Genetics 5 0 3 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 1 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 1
Alzheimer's disease and other cognitive disorders unit,Hospital Clínic de Barcelona_IDIBAPS 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Amyloidosis Center,Boston University School of Medicine 1 0 0 0 0 1

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