Variants studied for colonic neoplasm

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
342	50	307	137	75	3	1	11	920

Gene and significance breakdown #

Total genes and gene combinations: 69

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	risk factor	not provided	total
APC	92	3	76	26	23	0	1	0	218
MSH6	44	6	32	28	10	0	0	0	120
MSH2	53	7	27	9	9	0	0	0	105
MLH1	53	14	15	8	4	0	0	0	94
MUTYH	19	5	16	8	4	0	0	0	49
POLE	2	0	12	16	7	0	0	0	37
POLD1	0	0	8	13	11	0	0	1	33
PALB2	1	1	23	2	0	0	0	0	27
PMS2	12	1	7	4	1	0	0	0	25
KDR	0	0	14	0	0	0	0	0	14
FLT4, LOC126807632	0	0	13	0	0	0	0	0	13
AXIN2	2	0	9	0	1	0	0	0	12
ATM	2	1	2	4	2	0	0	0	11
TP53	3	2	6	0	0	0	0	0	11
FGFR3	7	0	3	0	0	0	0	0	10
FLT4	0	0	8	1	0	0	0	0	9
ATM, C11orf65	2	0	3	3	0	0	0	0	8
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
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
CHEK2	0	3	2	0	0	0	0	0	5
BMPR1A	0	0	1	3	0	0	0	0	4
CDH1	0	0	4	0	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
CTNNB1, LOC126806658	3	0	0	0	0	0	0	0	3
EPCAM	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
EP300	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
MRE11	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
PKHD1	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
XRCC2	0	0	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 24

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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	256	35	174	133	73	0	0	0	671
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
3DMed Clinical Laboratory Inc	13	0	18	1	0	0	0	0	32
Leiden Open Variation Database	0	0	19	0	0	0	0	0	19
Pathway Genomics	8	1	3	1	1	0	0	0	14
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	10	3	1	0	0	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
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	3	0	0	0	0	0	5
CSER _CC_NCGL, University of Washington	0	0	2	1	0	0	0	0	3
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
Institute of Human Genetics, University of Wuerzburg	2	0	0	0	0	0	0	0	2
Cancer Genetics Service, National Cancer Centre Singapore	0	0	2	0	0	0	0	0	2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	1	0	1	0	0	0	0	0	2
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
Department of Molecular and Medical Genetics, Osaka Medical Center for Cancer and Cardiovascular Diseases	0	1	0	0	0	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	1	0	0	0	0	0	0	0	1
Snyder Lab, Genetics Department, Stanford University	0	0	0	0	0	0	1	0	1
Medical Genetics Department, and Science and Technology Unit, Umm-al-Qura University	1	0	0	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	0	0	1

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