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 |
62
|
282
|
147
|
24
|
6
|
2
|
16
|
523
|
Gene and significance breakdown #
Total genes and gene combinations: 93
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
other |
total |
TP53
|
16
|
159
|
6
|
5
|
2
|
0 |
0 |
181
|
APC
|
18
|
2
|
69
|
10
|
3
|
0 |
0 |
102
|
CTNNB1, LOC126806658
|
6
|
28
|
0 |
1
|
0 |
0 |
2
|
31
|
MET
|
3
|
0 |
24
|
1
|
0 |
0 |
0 |
28
|
PIK3CA
|
5
|
17
|
3
|
0 |
0 |
0 |
0 |
22
|
HRAS, LRRC56
|
0 |
10
|
0 |
0 |
0 |
0 |
0 |
10
|
CTNNB1, LOC126806659
|
3
|
1
|
1
|
1
|
0 |
0 |
0 |
6
|
CDKN2A
|
0 |
4
|
0 |
0 |
1
|
0 |
0 |
5
|
CTNNB1
|
2
|
0 |
0 |
3
|
0 |
0 |
0 |
5
|
IDH1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
NRAS
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
TERT
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
5
|
AXIN1
|
1
|
0 |
1
|
2
|
0 |
0 |
0 |
4
|
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
|
CASP8
|
1
|
0 |
1
|
1
|
0 |
0 |
0 |
3
|
DOCK8
|
0 |
0 |
3
|
0 |
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
|
BRCA2
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
CNOT9
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
COL7A1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
DHCR7
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
FANCM
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
FGFR1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
FH
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GLI3
|
0 |
0 |
2
|
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
|
VHL
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
intergenic
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AKT1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
APC, LOC129994371
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARID1A
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
ATM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ATM, C11orf65
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BARD1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BIVM-ERCC5, ERCC5
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CUX2, SH2B3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CXCL8
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
CXCR1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
DIS3L2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DROSHA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
EGF
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
EGFR
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
EP300
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ERCC2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EXT2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FAH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FANCA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCD2, FANCD2OS
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FANCD2, LOC107303338
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FAS
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FGFR3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FLCN
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FLNA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FRMPD1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GBA1, LOC106627981
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HIF1A
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
IL10, IL19
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
IL1B
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
IL6, LOC126859963
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
JMJD1C
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KDR
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC110806263, TERT
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MN1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
MSH2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MSH6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MUTYH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NBN
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NDRG4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NYNRIN
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PACERR, PTGS2
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
PDGFRL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PMS2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
POLR1C, VEGFA
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
PTGS2
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
RECQL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RECQL4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
REN
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RET
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RHBDF2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RPS19
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SET
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
SF3B2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SLX4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
STK11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TGFBR2
|
0 |
0 |
1
|
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
|
Fulgent Genetics, Fulgent Genetics
|
31
|
4
|
97
|
23
|
5
|
0 |
0 |
160
|
Molecular Oncology - Human Genetics Lab, University of Sao Paulo
|
1
|
14
|
38
|
0 |
0 |
0 |
0 |
53
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
0 |
0 |
21
|
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin
|
0 |
0 |
0 |
0 |
0 |
0 |
11
|
11
|
CZECANCA consortium
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Mendelics
|
3
|
1
|
0 |
1
|
0 |
0 |
0 |
5
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan
|
2
|
1
|
2
|
0 |
0 |
0 |
0 |
5
|
3DMed Clinical Laboratory Inc
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
4
|
Bioengineering and Technology, Gauhati University
|
0 |
1
|
0 |
0 |
0 |
2
|
0 |
3
|
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
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
OSU Cancer Genomics Laboratory, Ohio State University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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