List of variants in gene TSC1 reported as pathogenic by Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

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: 45

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.1250del (p.Thr417fs)	rs397514778
NM_000368.5(TSC1):c.1486_1504del (p.Pro496fs)	rs1845654716
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	rs118203537
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	rs118203542
NM_000368.5(TSC1):c.1527del (p.Asp510fs)	rs1845652716
NM_000368.5(TSC1):c.1614del (p.Ser539fs)	rs1845643067
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter)	rs397514846
NM_000368.5(TSC1):c.1812T>G (p.Tyr604Ter)	rs2131821679
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)	rs118203597
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)	rs75820036
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)	rs1845604585
NM_000368.5(TSC1):c.2041+1G>A	rs397514842
NM_000368.5(TSC1):c.2041+240_2392-319del
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	rs118203631
NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter)	rs1845504382
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)	rs118203646
NM_000368.5(TSC1):c.2209-258_2502+101del
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)	rs118203661
NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter)	rs1588301951
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)	rs118203668
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs)	rs397514855
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)	rs118203681
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	rs118203682
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)	rs118203707
NM_000368.5(TSC1):c.2559_2560insAA (p.Val854fs)	rs2131687178
NM_000368.5(TSC1):c.2582del (p.Leu861fs)	rs397514865
NM_000368.5(TSC1):c.2626-1G>A	rs397514847
NM_000368.5(TSC1):c.2671_2674del (p.Asn891fs)	rs1845149321
NM_000368.5(TSC1):c.2672dup (p.Asn891fs)	rs118203724
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)	rs118203735
NM_000368.5(TSC1):c.363+668G>T	rs2132219029
NM_000368.5(TSC1):c.364-2A>G	rs1846685279
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg)	rs118203403
NM_000368.5(TSC1):c.585C>G (p.Tyr195Ter)	rs118203407
NM_000368.5(TSC1):c.634_635del (p.Asn212fs)	rs1846577619
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)	rs118203417
NM_000368.5(TSC1):c.648del (p.Phe216fs)	rs118203417
NM_000368.5(TSC1):c.664-15A>G	rs118203422
NM_000368.5(TSC1):c.664-2A>G	rs1846550204
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)	rs118203427
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)	rs118203434
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)	rs397514867
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)	rs1554817388
NM_000368.5(TSC1):c.989del (p.Leu330fs)	rs397514870

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.