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 | likely risk allele | other | total |
---|---|---|---|---|---|---|---|
18 | 264 | 8 | 1 | 1 | 2 | 1 | 291 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | likely risk allele | other | total |
---|---|---|---|---|---|---|---|---|
TP53 | 2 | 157 | 0 | 0 | 0 | 0 | 0 | 159 |
CTNNB1, LOC126806658 | 2 | 28 | 0 | 0 | 0 | 0 | 0 | 28 |
PIK3CA | 3 | 17 | 0 | 0 | 0 | 0 | 0 | 18 |
HRAS, LRRC56 | 0 | 10 | 0 | 0 | 0 | 0 | 0 | 10 |
CDKN2A | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 5 |
IDH1 | 0 | 5 | 0 | 0 | 0 | 0 | 0 | 5 |
NRAS | 0 | 5 | 0 | 0 | 0 | 0 | 0 | 5 |
CREBBP | 0 | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
IDH2 | 0 | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
NFE2L2 | 0 | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
TERT | 2 | 0 | 2 | 0 | 0 | 0 | 0 | 4 |
APC | 1 | 0 | 2 | 0 | 0 | 0 | 0 | 3 |
AXIN1 | 1 | 0 | 2 | 0 | 0 | 0 | 0 | 3 |
CTNNB1 | 2 | 0 | 0 | 1 | 0 | 0 | 0 | 3 |
GNAS | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
IGF2R | 2 | 0 | 1 | 0 | 0 | 0 | 0 | 3 |
RAD50 | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
VDR | 0 | 1 | 0 | 0 | 0 | 2 | 0 | 3 |
CNOT9 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
CTNNB1, LOC126806659 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 2 |
FGFR1 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
IGF2R, LOC129997612 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
KRAS | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
RXRA | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
SF3B1 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
AKT1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
CASP8 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
FH | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
LOC110806263, TERT | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
NBN | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
PDGFRL | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
PMS2 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
RET | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
SET | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
SF3B2 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | likely risk allele | other | total |
---|---|---|---|---|---|---|---|---|
Database of Curated Mutations (DoCM) | 0 | 253 | 0 | 0 | 0 | 0 | 0 | 253 |
OMIM | 13 | 0 | 0 | 0 | 0 | 0 | 0 | 13 |
CZECANCA consortium | 0 | 7 | 0 | 0 | 0 | 0 | 0 | 7 |
Mendelics | 3 | 1 | 0 | 1 | 0 | 0 | 0 | 5 |
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan | 2 | 1 | 2 | 0 | 0 | 0 | 0 | 5 |
Bioengineering and Technology, Gauhati University | 0 | 1 | 0 | 0 | 0 | 2 | 0 | 3 |
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
3DMed Clinical Laboratory Inc | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Donald Williams Parsons Laboratory, Baylor College of Medicine | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |