ClinVar Miner

List of variants studied for mixed neoplasm by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

Included ClinVar conditions (19):

Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome
Autosomal dominant nonsyndromic hearing loss 27; Wilms tumor 6; Fibromatosis, gingival, 5
Beckwith-Wiedemann syndrome; Wilms tumor 1; Silver-Russell syndrome 1; Silver-Russell syndrome 3
Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1
Drash syndrome; Frasier syndrome; Nephrotic syndrome, type 4; Wilms tumor 1
Drash syndrome; Frasier syndrome; Wilms tumor 1
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome
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
Keipert syndrome; Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1
Nephroblastoma
Wilms tumor 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 2
Wilms tumor 5
Wilms tumor 6

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	rs80359479
NM_024426.6(WT1):c.649A>G (p.Ile217Val)	rs1384974578
NM_024426.6(WT1):c.834dup (p.Thr279fs)	rs2133072543

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