ClinVar Miner

List of variants studied for male reproductive organ cancer by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (40):

Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Malignant tumor of testis; Carcinoma of colon
Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Familial prostate cancer
Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Malignant tumor of prostate
Carcinoma of pancreas; Peutz-Jeghers syndrome; Malignant tumor of testis
Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1
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; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Malignant tumor of prostate
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Glioma susceptibility 3; Familial prostate cancer
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; Breast-ovarian cancer, familial, susceptibility to, 2; Malignant tumor of prostate
Familial cancer of breast; Familial prostate cancer
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Familial prostate cancer
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate; Colorectal cancer
Familial cancer of breast; Lung carcinoma; Malignant tumor of prostate; Carcinoma of colon
Familial cancer of breast; Malignant tumor of prostate; Colorectal cancer
Familial prostate cancer
Gastrointestinal stromal tumor; Mastocytosis; Piebaldism; Malignant tumor of testis; Acute myeloid leukemia
Li-Fraumeni syndrome 2; Bone osteosarcoma; Familial prostate cancer
Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1
Malignant tumor of prostate
Malignant tumor of prostate; Metastatic Prostate Small Cell Carcinoma
Malignant tumor of prostate; Prostate neoplasm
Malignant tumor of testis
Prostate cancer, hereditary, 1
Prostate cancer, hereditary, 12
Prostate cancer, hereditary, 13
Prostate cancer, hereditary, 2
Prostate cancer, hereditary, 2, susceptibility to
Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17
Prostate cancer, hereditary, 9
Prostate cancer/brain cancer susceptibility
Spermatocytic seminoma

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn)	rs28936395	0.00287
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	rs555607708	0.00181
NM_000059.4(BRCA2):c.5217_5224del	rs80359497
NM_021133.4(RNASEL):c.1033dup (p.Ala345fs)

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