Gene Symbol:
CHEK2
HGNC:16627
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
22q12.1
Filters:

Definitive classifications

Li-Fraumeni syndrome 2
Submitted as: OMIM:609265
AR
08/30/2018
Evaluated
03/02/2021
Submitted
hereditary breast carcinoma
Submitted as: OMIM:114480
AD
08/30/2018
Evaluated
03/02/2021
Submitted
Li-Fraumeni syndrome
Submitted as: OMIM:151623
AD
11/29/2016
Evaluated
09/11/2023
Submitted
hereditary breast carcinoma
AD
12/14/2016
Evaluated
04/21/2024
Submitted

Strong classifications

Li-Fraumeni syndrome 2
AD
04/22/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
hereditary breast carcinoma
Submitted as: OMIM:114480
AD
11/28/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

acute myeloid leukemia
AD
03/04/2020
Evaluated
03/31/2021
Submitted
colorectal cancer
Submitted as: OMIM:114500
AD
07/15/2022
Evaluated
08/19/2023
Submitted

Limited classifications

hereditary nonpolyposis colon cancer
AD
03/13/2017
Evaluated
04/21/2024
Submitted

Disputed Evidence classifications

familial ovarian cancer
AD
12/14/2016
Evaluated
04/21/2024
Submitted

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