Variants studied for colorectal carcinoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	association	risk factor	not provided	total
323	46	296	136	76	3	1	10	886

Gene and significance breakdown #

Total genes and gene combinations: 66

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	risk factor	not provided	total
APC	91	3	72	26	23	0	1	0	213
MSH6	44	6	32	27	10	0	0	0	119
MSH2	51	7	26	9	9	0	0	0	102
MLH1	42	13	13	8	4	0	0	0	80
MUTYH	19	3	15	8	4	0	0	0	47
POLE	2	0	11	16	7	0	0	0	36
POLD1	0	0	8	12	11	0	0	0	31
PALB2	0	1	23	2	0	0	0	0	26
PMS2	11	1	7	4	1	0	0	0	24
KDR	0	0	14	0	0	0	0	0	14
AXIN2	2	1	9	0	1	0	0	0	13
FLT4, LOC126807632	0	0	13	0	0	0	0	0	13
ATM	1	1	2	4	2	0	0	0	10
FGFR3	7	0	3	0	0	0	0	0	10
TP53	3	2	5	0	0	0	0	0	10
FLT4	0	0	8	1	0	0	0	0	9
BUB1B	1	0	7	0	0	0	0	0	8
FLCN	3	1	4	0	0	0	0	0	8
FLT1	0	0	1	0	0	0	0	7	8
ATM, C11orf65	1	0	3	3	0	0	0	0	7
EP300	4	0	1	1	1	0	0	0	7
PIK3CA	5	0	2	0	0	0	0	0	7
BRAF	5	0	0	0	0	0	0	0	5
BRCA2	0	2	2	1	0	0	0	0	5
BMPR1A	0	0	1	3	0	0	0	0	4
PPARG	4	0	0	0	0	0	0	0	4
SMAD4	2	0	0	2	0	0	0	0	4
intergenic	0	0	0	0	0	3	0	0	3
BARD1	0	0	2	1	0	0	0	0	3
CDH1	0	0	3	0	0	0	0	0	3
CHEK2	0	1	2	0	0	0	0	0	3
CTNNB1, LOC126806658	3	0	0	0	0	0	0	0	3
FLT1, LOC126861720	0	0	0	0	0	0	0	3	3
PTEN	0	0	0	3	0	0	0	0	3
STK11	0	0	1	2	0	0	0	0	3
BAX	2	0	0	0	0	0	0	0	2
BRCA1	1	0	0	1	0	0	0	0	2
BRIP1	0	1	0	0	1	0	0	0	2
EPCAM	2	0	0	0	0	0	0	0	2
MCC	2	0	0	0	0	0	0	0	2
PTPRJ	2	0	0	0	0	0	0	0	2
RAD51C	0	0	2	0	0	0	0	0	2
AKT1	1	0	0	0	0	0	0	0	1
AOPEP, FANCC	0	1	0	0	0	0	0	0	1
APC, LOC129994371	0	0	1	0	0	0	0	0	1
BCL10	1	0	0	0	0	0	0	0	1
BRCA1, LOC126862571	0	0	1	0	0	0	0	0	1
BUB1	1	0	0	0	0	0	0	0	1
DCC	1	0	0	0	0	0	0	0	1
DLC1	1	0	0	0	0	0	0	0	1
FANCE	0	1	0	0	0	0	0	0	1
LOC129933707, LOC129933708, MSH6	1	0	0	0	0	0	0	0	1
LOC130009266, POLE	0	0	0	0	1	0	0	0	1
LOC130062899, STK11	0	0	0	1	0	0	0	0	1
MLH3	1	0	0	0	0	0	0	0	1
MT-ND1	1	0	0	0	0	0	0	0	1
MUTYH, TOE1	0	0	0	1	0	0	0	0	1
NBN	0	0	1	0	0	0	0	0	1
NRAS	1	0	0	0	0	0	0	0	1
PDGFRA	0	0	0	0	1	0	0	0	1
PDGFRL	1	0	0	0	0	0	0	0	1
PTPN12	1	0	0	0	0	0	0	0	1
RAD51D, RAD51L3-RFFL	0	0	1	0	0	0	0	0	1
RAD54B	1	0	0	0	0	0	0	0	1
RAD54L	1	0	0	0	0	0	0	0	1
REV3L	0	1	0	0	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	association	risk factor	not provided	total
Department of Pathology and Laboratory Medicine, Sinai Health System	255	33	174	133	73	0	0	0	668
Fulgent Genetics, Fulgent Genetics	20	3	49	0	2	0	0	0	74
Immunobiology Lab; University of Kashmir	0	0	35	0	0	0	0	10	45
OMIM	43	0	0	0	0	0	0	0	43
Leiden Open Variation Database	0	0	19	0	0	0	0	0	19
3DMed Clinical Laboratory Inc	6	0	13	0	0	0	0	0	19
Pathway Genomics	8	1	3	1	1	0	0	0	14
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer	0	6	0	0	0	0	0	0	6
Labcorp Genetics (formerly Invitae), Labcorp	2	0	1	1	1	0	0	0	5
Colorectal Cancer Research Lab, Singapore General Hospital	0	0	0	0	0	3	0	0	3
Mendelics	0	0	1	1	0	0	0	0	2
Cancer Genetics Service, National Cancer Centre Singapore	0	0	2	0	0	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	0	0	0	1
CSER _CC_NCGL, University of Washington	0	0	1	0	0	0	0	0	1
Department of Molecular and Medical Genetics, Osaka Medical Center for Cancer and Cardiovascular Diseases	0	1	0	0	0	0	0	0	1
Snyder Lab, Genetics Department, Stanford University	0	0	0	0	0	0	1	0	1

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