ClinVar Miner

List of variants in gene PPP2R1A reported as likely pathogenic for malignant mixed neoplasm

Included ClinVar conditions (20):

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014225.6(PPP2R1A):c.536C>G (p.Pro179Arg)	rs786205228
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu)	rs786205228
NM_014225.6(PPP2R1A):c.547C>G (p.Arg183Gly)	rs1057519946
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)	rs1057519946
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)	rs1057519947

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