ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic for gastric cancer

Included ClinVar conditions (25):

Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer; LADD syndrome 1
Autoimmune lymphoproliferative syndrome type 2A; Gastric cancer; Lymphoma, non-Hodgkin, familial
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach
Familial adenomatous polyposis 1; Gastric adenocarcinoma and proximal polyposis of the stomach; APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis 2; Gastric cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Familial prostate cancer; Ovarian cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate
Familial cancer of breast; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Malignant tumor of prostate
Familial cancer of breast; Hemifacial myohyperplasia; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; CLAPO syndrome; CLOVES syndrome; Ovarian cancer; Cerebral cavernous malformation 4; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Gastric adenocarcinoma
Gastric adenocarcinoma and proximal polyposis of the stomach
Gastric cancer
Glioma susceptibility 1; Ovarian cancer; Gastric cancer; Lung cancer; Visceral neuropathy, familial, 2, autosomal recessive
Hereditary diffuse gastric adenocarcinoma
Hereditary diffuse gastric adenocarcinoma; CDH1-related diffuse gastric and lobular breast cancer syndrome
Hereditary diffuse gastric adenocarcinoma; Malignant tumor of breast
Microvascular complications of diabetes, susceptibility to, 4; Sterile multifocal osteomyelitis with periostitis and pustulosis; Gastric cancer

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:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	rs137853007	0.00005
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	rs587781269	0.00003
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	rs730881701	0.00001
NM_007194.4(CHEK2):c.1067C>A (p.Ser356Ter)
NM_007194.4(CHEK2):c.1096-1G>T	rs1060502716
NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	rs200432447
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)	rs587782684
NM_007194.4(CHEK2):c.1607del (p.Pro536fs)	rs1555911551
NM_007194.4(CHEK2):c.468del (p.Ser155_Tyr156insTer)
NM_007194.4(CHEK2):c.668del (p.Met222_Ser223insTer)
NM_007194.4(CHEK2):c.684-1G>A	rs1298667185
NM_007194.4(CHEK2):c.712_713dup (p.Glu239fs)
NM_007194.4(CHEK2):c.792+1G>A	rs1555921011
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
NM_007194.4(CHEK2):c.847-12_847-2del	rs1410392419
NM_007194.4(CHEK2):c.847-1G>T
NM_007194.4(CHEK2):c.847-2A>G	rs1601753141
NM_007194.4(CHEK2):c.908+2del

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