ClinVar Miner

List of variants in gene MSH6 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)
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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	rs63749843	0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	rs63750617	0.00002
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	rs63751017	0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	rs63749999	0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)	rs63751327	0.00001
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	rs587779204
NM_000179.3(MSH6):c.114del (p.Ala40fs)	rs1558644995
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)	rs63750439
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)	rs267608076
NM_000179.3(MSH6):c.1813del (p.Thr605fs)
NM_000179.3(MSH6):c.202A>T (p.Lys68Ter)
NM_000179.3(MSH6):c.2263G>T (p.Glu755Ter)
NM_000179.3(MSH6):c.238G>A (p.Val80Ile)
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)	rs374230313
NM_000179.3(MSH6):c.2752del (p.His918fs)
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	rs587779246
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)	rs63749919
NM_000179.3(MSH6):c.3194_3197del (p.Asn1065fs)	rs2104472237
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)	rs863225406
NM_000179.3(MSH6):c.3258_3259insT (p.Pro1087fs)
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3511del (p.Asp1171fs)
NM_000179.3(MSH6):c.3556+1G>T	rs1060502926
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)	rs193922343
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)	rs1553333738
NM_000179.3(MSH6):c.4001+1del
NM_000179.3(MSH6):c.4069_4070dup (p.Lys1358fs)
NM_000179.3(MSH6):c.625dup (p.Glu209fs)

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