ClinVar Miner

List of variants reported as likely pathogenic for central nervous system cancer by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (49):

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
Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Colorectal cancer; Bone marrow failure syndrome 5
Adult spinal cord ependymoma
Anaplastic ependymoma
Anaplastic oligodendroglioma
Astrocytoma, anaplastic
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma
Atypical teratoid rhabdoid tumor
Brainstem glioma
Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma
Childhood kidney cell carcinoma; High-grade astrocytoma with piloid features
Choroid plexus carcinoma
Choroid plexus papilloma
Diffuse intrinsic pontine glioma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
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
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4
Gastrointestinal stromal tumor; Mitochondrial complex II deficiency, nuclear type 1; Hereditary pheochromocytoma-paraganglioma; Paragangliomas 5
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma
Glioblastoma
Glioblastoma multiforme
Glioma susceptibility 3
Granular cell cancer
High-grade astrocytoma with piloid features
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Malignant glioma
Malignant neoplasm of brain
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5
Neoplasm of brain
Oligodendroglioma
Paragangliomas 2
Paragangliomas 4
Paragangliomas 4; Pheochromocytoma
Paragangliomas 5
Pediatric high-grade glioma
Pineoblastoma
Pituitary carcinoma
Rhabdoid tumor predisposition syndrome 2
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16
Supratentorial primitive neuroectodermal tumor

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)	rs139881415	0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	rs149364097	0.00004
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)	rs1555138291
NM_032444.4(SLX4):c.859_860del (p.Ser287fs)	rs1567176006

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