ClinVar Miner

List of variants in gene PALB2 reported as likely pathogenic for pancreatic neoplasm

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

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)	rs995629797	0.00003
NM_024675.4(PALB2):c.212-2A>G	rs730881879	0.00002
NM_024675.4(PALB2):c.108+1G>A	rs1060499814	0.00001
NM_024675.4(PALB2):c.3113+5G>C	rs876659463	0.00001
NM_024675.4(PALB2):c.3350+5G>A	rs587782566	0.00001
NM_024675.4(PALB2):c.109-2A>G	rs730881897
NM_024675.4(PALB2):c.1183del (p.Ser395fs)	rs1555461415
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)	rs1555460431
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)	rs1555460334
NM_024675.4(PALB2):c.2515-1G>A	rs587776417
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)	rs730881869
NM_024675.4(PALB2):c.2748+1G>A	rs753153576
NM_024675.4(PALB2):c.2800_2801dup (p.Val934_Ala935insTer)
NM_024675.4(PALB2):c.2878del (p.Leu960fs)	rs1064795824
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)	rs1966798806
NM_024675.4(PALB2):c.2997-161_3113+4del	rs2142325910
NM_024675.4(PALB2):c.3087del (p.Thr1030fs)
NM_024675.4(PALB2):c.3351-1G>A	rs1597062406
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)	rs1555457867
NM_024675.4(PALB2):c.48G>A (p.Lys16=)	rs587776405
NM_024675.4(PALB2):c.71_73delinsGG (p.Leu24fs)	rs1967112121
NM_024675.4(PALB2):c.732_733dup (p.Ala245fs)
NM_024675.4(PALB2):c.892_893del (p.Val298fs)	rs2142431841
NM_024675.4(PALB2):c.93dup (p.Leu32fs)	rs864622498
NM_024675.4:c.3179_3180insALU

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