ClinVar Miner

List of variants in gene PDGFB reported as benign for fibroblastic neoplasm

Included ClinVar conditions (16):

Congenital fibrosarcoma
Craniosynostosis 4; Torticollis; Plagiocephaly; Atypical behavior; High palate; Exotropia; Specific learning disability; Triangular face; Mild conductive hearing impairment; Abnormal facial skeleton morphology; Attention deficit hyperactivity disorder
Dermatofibrosarcoma protuberans
Desmoid disease, hereditary
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma
Desmoid disease, hereditary; Familial adenomatous polyposis 1
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach
Desmoid tumor
Desmoid tumor caused by somatic mutation
Torticollis; Atrial septal defect; Inguinal hernia; Syncope; Coarse facial features; Broad thumb; Delayed speech and language development; Recurrent otitis media; Broad nasal tip; Umbilical hernia; Gastroesophageal reflux; Aplasia/Hypoplasia of the nails; Cleft anterior mitral valve leaflet
Torticollis; Congenital cerebellar hypoplasia; Global developmental delay; Microcephaly; Secondary microcephaly
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangioma; Congenital talipes calcaneovalgus
Uterine leiomyoma
Uterine leiomyoma; Cutaneous leiomyoma
Uterine leiomyoma; Hereditary leiomyomatosis and renal cell cancer

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: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002608.4(PDGFB):c.160+15C>A	rs17303681	0.03571
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)	rs114786489	0.00422

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.