List of variants in gene TSC2 reported as uncertain significance for Lymphangiomyomatosis

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.3132-13C>T	rs371948435	0.00001
NM_000548.5(TSC2):c.3284+6T>G	rs375837026	0.00001
NM_000548.5(TSC2):c.1119+7T>G	rs778981693
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg)	rs45517154
NM_000548.5(TSC2):c.2966+24del	rs1188094714
NM_000548.5(TSC2):c.2983C>A (p.Leu995Ile)	rs752248140
NM_000548.5(TSC2):c.3132-3T>C	rs2089821106
NM_000548.5(TSC2):c.4262G>C (p.Gly1421Ala)	rs1368001965
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr)	rs1555439825

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.