ClinVar Miner

List of variants studied for gastric carcinoma by MGZ Medical Genetics Center

Included ClinVar conditions (13):

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 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 neoplasm; Malignant tumor of prostate
Familial cancer of breast; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Malignant tumor of prostate
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
Gastric adenocarcinoma
Gastric adenocarcinoma and proximal polyposis of the stomach
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)	rs372182377	0.00005
NM_004360.5(CDH1):c.2458A>G (p.Thr820Ala)	rs878854685	0.00001
NM_000038.6(APC):c.4813G>A (p.Val1605Met)	rs1554086219
NM_004360.5(CDH1):c.1107del (p.Asn369fs)	rs1567507138
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)	rs587783050
NM_004360.5(CDH1):c.1711+1G>C	rs886041161
NM_004360.5(CDH1):c.1982dup (p.Gly661_Asp662insTer)
NM_004360.5(CDH1):c.2309G>A (p.Ser770Asn)

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