ClinVar Miner

Variants studied for amyloidosis (disease)

Included ClinVar conditions (22):
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
94 201 105 49 21 1 462

Gene and significance breakdown #

Total genes and gene combinations: 78
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTR 51 11 42 4 1 1 102
TP53 0 65 0 0 0 0 65
GSN 2 0 26 19 6 0 53
LYZ 5 0 12 11 5 0 33
FGA 4 0 15 5 4 0 28
BRAF 0 20 0 0 0 0 20
APOA1 5 0 6 6 0 0 17
NRAS 0 14 0 0 0 0 14
HRAS, LRRC56 0 13 0 0 0 0 13
APP 5 1 0 0 0 0 6
B2M 1 5 0 0 0 0 6
GPNMB 6 0 0 0 0 0 6
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
PTPN11 0 4 0 0 0 0 4
FGFR3 3 1 0 0 0 0 3
IDH2 0 3 0 0 0 0 3
LIG4 1 0 2 0 0 0 3
PIK3CA 0 3 0 0 0 0 3
FAT1 0 2 0 0 0 0 2
ITM2B 2 0 0 0 0 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
CST3 1 0 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
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
IL31RA 1 0 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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Database of Curated Mutations (DoCM) 0 139 0 0 0 0 139
Illumina Clinical Services Laboratory,Illumina 1 0 66 41 14 0 122
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
Invitae 15 5 29 2 0 0 51
Integrated Genetics/Laboratory Corporation of America 14 3 0 1 1 0 19
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 4 2 0 0 0 1 7
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Amyloidosis Center,Boston University School of Medicine 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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