ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as pathogenic for gastric cancer

Included ClinVar conditions (22):

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 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
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
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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	rs587782292	0.00002
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	rs139770721	0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)	rs587779865	0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)	rs587781894	0.00001
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)	rs587781727
NM_000051.4(ATM):c.5918+2T>A
NM_000051.4(ATM):c.6164del (p.Ile2055fs)
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)	rs747057367
NM_000051.4(ATM):c.6820dup (p.Ala2274fs)
NM_000051.4(ATM):c.6910del (p.Glu2304fs)	rs1555119940
NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs)	rs2136339054
NM_000051.4(ATM):c.7181C>A (p.Ser2394Ter)
NM_000051.4(ATM):c.7356dup (p.Arg2453fs)	rs2086116982
NM_000051.4(ATM):c.7410_7425del (p.Asn2469_Tyr2470insTer)
NM_000051.4(ATM):c.7519_7520del	rs587781905
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)	rs1555124506
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	rs759965045
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)	rs138941496
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)	rs1450394308
NM_000051.4(ATM):c.7928-2A>G	rs864622610
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter)	rs2086676230
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	rs587782719
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)	rs1060501695
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.8432del (p.Lys2811fs)	rs587782558
NM_000051.4(ATM):c.8786+1G>C	rs17174393
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)	rs1591387978

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