List of variants in gene TSC2 reported as pathogenic by Mendelics

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: 21

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1380_1386del (p.Val461fs)	rs2151171193
NM_000548.5(TSC2):c.139-1G>A	rs1567386603
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	rs45517179
NM_000548.5(TSC2):c.1717-2A>C	rs1596335963
NM_000548.5(TSC2):c.2046del (p.Ser683fs)	rs397515287
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter)	rs751172150
NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter)	rs1596356898
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs)	rs1596382268
NM_000548.5(TSC2):c.3040dup (p.Ser1014fs)	rs2151432406
NM_000548.5(TSC2):c.3376del (p.Asp1126fs)	rs397515125
NM_000548.5(TSC2):c.3669del (p.Asn1224fs)	rs137854223
NM_000548.5(TSC2):c.4005+1G>A	rs45517324
NM_000548.5(TSC2):c.4006-2A>G	rs397514941
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)	rs1555497641
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)	rs397514976
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)	rs137854132
NM_000548.5(TSC2):c.4279dup (p.Ser1427fs)	rs137854113
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)	rs397515159
NM_000548.5(TSC2):c.5068+2T>C	rs397515152
NM_000548.5(TSC2):c.595del (p.Val199fs)	rs2151061858
NM_000548.5(TSC2):c.975+1G>T	rs137854200

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.