ClinVar Miner

List of variants in gene MAP2K1 reported as likely pathogenic for gastric adenocarcinoma

Included ClinVar conditions (9):

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
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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile)	rs1057519728
NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val)	rs1057519728
NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu)	rs1057519908
NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr)	rs1057519909
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn)	rs869025608

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