Information Welcome to the new InSiGHT database. To submit data, please register or login to your account. Most variants are being migrated from the old database at http://chromium.lovd.nl/LOVD2/colon_cancer - please continue to check there for variants of interest.
InSiGHT Variant Classifications are available here

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12 entries on 1 page. Showing entries 1 - 12.

AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
APC adenomatous polyposis coli 5 q21-q22 1 0 0 2016-10-12 AML, FAP-1, adenoma, cancer, cancer, skin, squamous cell carcinoma, glioma, malignant, lymphoma, Medulloblastoma, neoplasia, colorectal, early onset, polyp, polyposis, unknown/not specified
EPCAM epithelial cell adhesion molecule 2 p21 1 0 0 N/A AML, CRC, Lynch Syndrome, MRTES, adenoma, cancer, cancer, bladder, cancer, brain, cancer, breast, cancer, endometrial, cancer, gastric (Neoplasm of stomach), cancer, ovarian, cancer, pancreatic, cancer, rectal, cancer, skin, squamous cell carcinoma, Esophageal cancer, glioma, malignant, in silico, in vitro, lymphoma, Medulloblastoma, neoplasia, colorectal, early onset, other, polyp, polyposis, unknown/not specified
FBXO11 F-box protein 11 2 p16.3 1 9 5 2016-07-26 MRTES, adenoma, cancer, cancer, brain, cancer, breast, cancer, pancreatic, cancer, rectal, lymphoma, neoplasia, colorectal, early onset, polyp, polyposis, unknown/not specified
MLH1 mutL homolog 1 3 p22.3 1 212 152 2016-11-18 AML, CRC, Lynch Syndrome, MRTES, adenoma, cancer, cancer, bladder, cancer, brain, cancer, breast, cancer, endometrial, cancer, gastric (Neoplasm of stomach), cancer, ovarian, cancer, pancreatic, cancer, prostate, cancer, rectal, cancer, skin, squamous cell carcinoma, Esophageal cancer, glioma, malignant, in silico, in vitro, lymphoma, Medulloblastoma, neoplasia, colorectal, early onset, other, polyp, polyposis, unknown/not specified
MLH3 mutL homolog 3 14 q24.3 1 143 72 2016-07-26 AML, CRC, Lynch Syndrome, MRTES, adenoma, cancer, cancer, bladder, cancer, brain, cancer, breast, cancer, endometrial, cancer, gastric (Neoplasm of stomach), cancer, ovarian, cancer, pancreatic, cancer, rectal, cancer, skin, squamous cell carcinoma, Esophageal cancer, glioma, malignant, in silico, lymphoma, Medulloblastoma, neoplasia, colorectal, early onset, other, polyp, polyposis, unknown/not specified
MSH2 mutS homolog 2 2 p21 1 178 131 2016-12-01 AML, CRC, Lynch Syndrome, MRTES, adenoma, cancer, cancer, bladder, cancer, brain, cancer, breast, cancer, endometrial, cancer, gastric (Neoplasm of stomach), cancer, ovarian, cancer, pancreatic, cancer, prostate, cancer, rectal, cancer, skin, squamous cell carcinoma, Esophageal cancer, glioma, malignant, in silico, in vitro, lymphoma, Medulloblastoma, neoplasia, colorectal, early onset, other, polyp, polyposis, unknown/not specified
MSH3 mutS homolog 3 5 q14.1 1 2 2 2016-11-22 AML, CRC, Lynch Syndrome, MRTES, adenoma, cancer, cancer, bladder, cancer, brain, cancer, breast, cancer, endometrial, cancer, gastric (Neoplasm of stomach), cancer, ovarian, cancer, pancreatic, cancer, rectal, cancer, skin, squamous cell carcinoma, Esophageal cancer, glioma, malignant, in silico, in vitro, lymphoma, Medulloblastoma, neoplasia, colorectal, early onset, other, polyp, polyposis, unknown/not specified
MSH6 mutS homolog 6 2 p16 1 1731 595 2016-11-22 AML, CRC, Lynch Syndrome, MRTES, adenoma, cancer, cancer, bladder, cancer, brain, cancer, breast, cancer, endometrial, cancer, gastric (Neoplasm of stomach), cancer, ovarian, cancer, pancreatic, cancer, prostate, cancer, rectal, cancer, skin, squamous cell carcinoma, Esophageal cancer, glioma, malignant, in silico, in vitro, lymphoma, Medulloblastoma, neoplasia, colorectal, early onset, other, polyp, polyposis, unknown/not specified
MUTYH mutY DNA glycosylase 1 p34.1 2 0 0 N/A MRTES, adenoma, cancer, cancer, brain, cancer, breast, cancer, gastric (Neoplasm of stomach), cancer, pancreatic, cancer, rectal, lymphoma, neoplasia, colorectal, early onset, polyp, polyposis, unknown/not specified
PALB2 partner and localizer of BRCA2 16 p12.2 1 0 0 N/A MRTES, adenoma, cancer, cancer, brain, cancer, breast, cancer, rectal, lymphoma, neoplasia, colorectal, early onset, polyp, polyposis, unknown/not specified
PMS2 PMS1 homolog 2, mismatch repair system component 7 p22.1 1 38 33 2016-11-07 AML, CRC, Lynch Syndrome, MRTES, adenoma, cancer, cancer, bladder, cancer, brain, cancer, breast, cancer, endometrial, cancer, gastric (Neoplasm of stomach), cancer, ovarian, cancer, pancreatic, cancer, prostate, cancer, rectal, cancer, skin, squamous cell carcinoma, Esophageal cancer, glioma, malignant, in silico, in vitro, lymphoma, Medulloblastoma, neoplasia, colorectal, early onset, other, polyp, polyposis, unknown/not specified
STK11 serine/threonine kinase 11 19 p13.3 1 18 18 2016-08-12 MRTES, adenoma, cancer, cancer, brain, cancer, breast, cancer, gastric (Neoplasm of stomach), cancer, rectal, lymphoma, neoplasia, colorectal, early onset, polyp, polyposis, unknown/not specified