ClinVar Miner

List of variants reported as uncertain significance for lipomatosis by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (5):

Charcot-Marie-Tooth disease type 2A2; Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Encephalocraniocutaneous lipomatosis
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis
Multiple symmetric lipomatosis
Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_023110.3(FGFR1):c.1368G>T (p.Met456Ile)	rs200776757	0.00044
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)	rs749903780	0.00002
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)	rs770577710	0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)	rs751651299	0.00001
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His)	rs121909637

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.