ClinVar Miner

List of variants studied for pancreatic neoplasm by OMIM

Included ClinVar conditions (36):

Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Familial pancreatic carcinoma; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Breast-ovarian cancer, familial, susceptibility to, 1; Carcinoma of pancreas; Hereditary breast ovarian cancer syndrome; Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S
Carcinoma of pancreas
Carcinoma of pancreas; Peutz-Jeghers syndrome; Malignant tumor of testis
Carcinoma of pancreas; Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Germ cell tumor of testis
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Tracheoesophageal fistula
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Tracheoesophageal fistula
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; 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
Familial cancer of breast; Pancreatic cancer, susceptibility to, 3
Familial pancreatic carcinoma
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Malignant tumor of breast
GCGR-related hyperglucagonemia
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas; Juvenile polyposis syndrome
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Familial pancreatic carcinoma; Juvenile polyposis syndrome
Pancreatic adenocarcinoma
Pancreatic cancer, susceptibility to, 1
Pancreatic cancer, susceptibility to, 2
Pancreatic cancer, susceptibility to, 3
Pancreatic cancer, susceptibility to, 3; Breast cancer, susceptibility to
Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 4
Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis
Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid gland adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal circulating calcium concentration

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001166108.2(PALLD):c.1965-12616C>T	rs121908291	0.00026
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	rs80359550	0.00019
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu)	rs121434388	0.00017
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_000160.5(GCGR):c.187G>A (p.Asp63Asn)	rs1219737977	0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	rs121913529	0.00001
GCGR, 1-BP INS, EX4
GCGR, ARG8TER
GCGR, GLN327TER
NM_000160.5(GCGR):c.256C>T (p.Pro86Ser)	rs2143128666
NM_000160.5(GCGR):c.879-1G>A	rs1598239171
NM_000160.5(GCGR):c.955TTC[1] (p.Phe320del)	rs1202703638
NM_000160.5(GCGR):c.[1102G>A;674G>A]
NM_000455.5(STK11):c.108C>A (p.Tyr36Ter)	rs137853079
NM_000455.5(STK11):c.650del (p.Pro217fs)	rs397518442
NM_000455.5(STK11):c.936del (p.Lys312fs)	rs397518443
NM_000546.6(TP53):c.105G>T (p.Leu35Phe)	rs121912661
NM_004302.5(ACVR1B):c.1159_1163del (p.Asp387fs)	rs387906389
NM_004302.5(ACVR1B):c.1262-502_1392+24del	rs1555162597
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	rs121913529
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter)	rs121912576
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter)	rs121912577
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His)	rs121912578
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter)	rs121912579
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	rs80357914
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
PALB2:c.2515-1G>T	rs587776417

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