ClinVar Miner

List of variants studied for colorectal carcinoma by Mendelics

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
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser)	rs55667289	0.00349
NM_182925.5(FLT4):c.2104G>T (p.Ala702Ser)	rs746659265	0.00003

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