ClinVar Miner

List of variants in gene PALB2 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)	rs587776416	0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	rs180177110	0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	rs180177100	0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)	rs180177103	0.00001
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)	rs1555461154	0.00001
NM_024675.4(PALB2):c.1206del (p.Leu403fs)	rs876658431
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter)	rs1597096243
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer)	rs1966967065
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)	rs1060502734
NM_024675.4(PALB2):c.1972del (p.Glu658fs)	rs1555460548
NM_024675.4(PALB2):c.2235del (p.Ala746fs)	rs1966858562
NM_024675.4(PALB2):c.2470del (p.Cys824fs)	rs876658348
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)	rs1555460315
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)	rs730881869
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)	rs1224428422
NM_024675.4(PALB2):c.2834+2T>C	rs864622481
NM_024675.4(PALB2):c.2T>A (p.Met1Lys)
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)	rs1021662947
NM_024675.4(PALB2):c.3263del (p.Pro1088fs)	rs1966509881
NM_024675.4(PALB2):c.49-1del	rs1967113484
NM_024675.4(PALB2):c.609del (p.Lys203fs)
NM_024675.4(PALB2):c.659del (p.Ser220fs)
NM_024675.4(PALB2):c.745_749del (p.Pro249fs)	rs876659326
NM_024675.4(PALB2):c.839_840insT (p.Ile281fs)	rs1967016153
NM_024675.4(PALB2):c.886dup (p.Met296fs)	rs587776408

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