ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.2150T>A (p.Leu717Gln) rs45517214
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro) rs137854241
NM_000548.5(TSC2):c.2529_2537del (p.Glu845_Leu847del) rs1567476034
NM_000548.5(TSC2):c.2747T>C (p.Leu916Pro) rs137854405
NM_000548.5(TSC2):c.3284G>T (p.Ser1095Ile) rs1555510754
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3974G>A (p.Gly1325Asp) rs754680848
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338
NM_000548.5(TSC2):c.4364G>C (p.Gly1455Ala) rs1567524174
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604
NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val) rs773527337
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802
NM_000548.5(TSC2):c.599+3A>T rs397514899
NM_000548.5(TSC2):c.831C>G (p.Cys277Trp) rs1057523424
NM_000548.5(TSC2):c.956T>A (p.Val319Glu) rs1555499785
NM_000548.5(TSC2):c.975+7C>T rs372463702

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.