ClinVar Miner

List of variants in gene TSC1 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000368.4(TSC1):c.1029+2T>C rs1554817336
NM_000368.4(TSC1):c.1125dup (p.Val376fs) rs1554817227
NM_000368.4(TSC1):c.211-7T>G rs1554820321
NM_000368.4(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.4(TSC1):c.456del (p.Asp153fs) rs1554819896
NM_000368.4(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.4(TSC1):c.572T>C (p.Leu191Pro) rs118203403
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.1998-2A>C rs1057518217
NM_001162426.2(TSC1):c.1321_1322AG[1] (p.Gly442fs) rs1064795285

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.