ClinVar Miner

List of variants in gene PIK3CA reported as pathogenic for colorectal carcinoma

Included ClinVar conditions (14):

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
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
Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma
Carcinoma of colon
Colon adenocarcinoma
Colorectal carcinoma
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma
Familial cancer of breast; Lung carcinoma; Malignant tumor of prostate; Carcinoma of colon
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Carcinoma of colon
Oligodontia-cancer predisposition syndrome; Carcinoma of colon
Rectum adenocarcinoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal carcinoma

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

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	rs104886003
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	rs121913274
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	rs121913286
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279

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