ClinVar Miner

List of variants studied for colonic neoplasm by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (19):

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
Adenomatous colonic polyposis
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
Colon cancer
Colonic neoplasm
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Adenomatous polyp of colon
Colorectal polyposis; Colonic neoplasm
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
Gastric polyposis; Duodenal polyposis; Adenomatous colonic polyposis; Intestinal polyp; Hyperplastic colonic polyposis
Malignant tumor of ascending colon
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
Sigmoid colon cancer

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)	rs142822590	0.00028
NM_001048174.2(MUTYH):c.849+3A>C	rs587780751	0.00013
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)	rs755394212	0.00002
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000038.6(APC):c.4901del (p.Pro1634fs)	rs1057518901

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