List of variants reported as likely pathogenic for colorectal cancer by Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease, Shanghai Jiao Tong University School of Medicine.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met)	rs138432305	0.00004
NM_006231.4(POLE):c.2929G>A (p.Gly977Arg)	rs142563997	0.00003
NM_170693.3(SGK2):c.380G>A (p.Arg127Gln)	rs35187177	0.00003
NM_006231.4(POLE):c.1346C>T (p.Thr449Met)	rs780299012	0.00001
NM_001358291.2(RMI1):c.1284_1288del (p.Lys428fs)	rs764792608
NM_001519.4(BRF1):c.1954G>A (p.Gly652Arg)	rs202049411
NM_001904.4(CTNNB1):c.1444C>G (p.Gln482Glu)	rs1559474557
NM_006231.4(POLE):c.1187A>G (p.Glu396Gly)	rs2136008663
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_152424.4(AMER1):c.3145C>T (p.Arg1049Ter)	rs780779666

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.