ClinVar Miner

List of variants in gene TSC1 reported as pathogenic for Tuberous sclerosis 1

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Total variants: 106
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HGVS dbSNP
NC_000009.11:g.(?_135771602)_(135779861_?)del
NC_000009.11:g.(?_135771602)_(135804279_?)del
NC_000009.11:g.(?_135771616)_(135804265_?)del
NC_000009.11:g.(?_135776102)_(135787844_?)dup
NC_000009.11:g.(?_135785938)_(135787864_?)del
NM_000368.4(TSC1):c.1073del (p.Pro358fs) rs1554817259
NM_000368.4(TSC1):c.10C>T (p.Gln4Ter)
NM_000368.4(TSC1):c.1119_1123del (p.Tyr373_Lys375delinsTer)
NM_000368.4(TSC1):c.1130_1131del (p.Phe377fs) rs1554817222
NM_000368.4(TSC1):c.1208C>A (p.Ser403Ter) rs118203504
NM_000368.4(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.4(TSC1):c.1271_1272delGA (p.Arg424Asnfs) rs118203509
NM_000368.4(TSC1):c.1301dup (p.Gln435fs) rs1554816394
NM_000368.4(TSC1):c.1388dup (p.Leu463fs) rs1064796237
NM_000368.4(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.4(TSC1):c.1444_1445AT[1] (p.Ile482_Ser483insTer) rs1554816076
NM_000368.4(TSC1):c.1453G>T (p.Glu485Ter) rs1564482622
NM_000368.4(TSC1):c.146del (p.Tyr49fs) rs397514861
NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.4(TSC1):c.1518del (p.Tyr508fs) rs1060503210
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.4(TSC1):c.1530_1531del (p.Asp510fs) rs118203544
NM_000368.4(TSC1):c.1541_1549delinsTG (p.Gly514fs) rs1564482288
NM_000368.4(TSC1):c.1546C>T (p.Gln516Ter)
NM_000368.4(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.4(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.4(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.4(TSC1):c.1715_1722dup (p.Ser575fs)
NM_000368.4(TSC1):c.1758del (p.Pro585_Cys586insTer) rs1554815856
NM_000368.4(TSC1):c.1781del (p.Val594fs) rs1554815829
NM_000368.4(TSC1):c.1849del (p.His617fs) rs1564481122
NM_000368.4(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)
NM_000368.4(TSC1):c.1896del (p.Gly633fs) rs1564480935
NM_000368.4(TSC1):c.1902_1903CA[1] (p.Thr635fs) rs118203597
NM_000368.4(TSC1):c.1905_1906AG[1] (p.Glu636fs) rs118203599
NM_000368.4(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.4(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.4(TSC1):c.1998-1G>T rs118203614
NM_000368.4(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.4(TSC1):c.2041+1G>A rs397514842
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.4(TSC1):c.2105_2106insCT (p.Leu702fs) rs1564478705
NM_000368.4(TSC1):c.211-1G>A rs118203353
NM_000368.4(TSC1):c.211-2A>C rs118203352
NM_000368.4(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.4(TSC1):c.2131C>T (p.Gln711Ter) rs118203647
NM_000368.4(TSC1):c.2165del (p.Lys722fs) rs1060503213
NM_000368.4(TSC1):c.2177_2180dup (p.Ala728fs) rs1554815246
NM_000368.4(TSC1):c.2231_2235del (p.Glu744fs) rs1554815049
NM_000368.4(TSC1):c.2242C>T (p.Gln748Ter)
NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.4(TSC1):c.2340_2343del (p.Arg780fs)
NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.4(TSC1):c.2341_2360dup (p.Glu787fs) rs1554814935
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2360del (p.Glu787fs)
NM_000368.4(TSC1):c.2362G>T (p.Glu788Ter) rs118203685
NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.4(TSC1):c.2488C>T (p.Gln830Ter) rs1564475884
NM_000368.4(TSC1):c.24_42delinsCAA (p.Glu9fs) rs1554821022
NM_000368.4(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.4(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.4(TSC1):c.2510dup (p.Asn837fs) rs118203709
NM_000368.4(TSC1):c.2515_2518del (p.Glu839fs) rs794727320
NM_000368.4(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.4(TSC1):c.2545_2566del (p.Asn849fs) rs1564474974
NM_000368.4(TSC1):c.2559_2562del (p.Leu853fs) rs118203711
NM_000368.4(TSC1):c.261dup (p.Ser88fs)
NM_000368.4(TSC1):c.2672del (p.Asn891fs) rs118203724
NM_000368.4(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.4(TSC1):c.2675_2676del (p.Arg892fs) rs118203726
NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.4(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.4(TSC1):c.269_270TC[1] (p.Ser91fs) rs118203360
NM_000368.4(TSC1):c.2715_2716dup (p.Gln906fs)
NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.271del (p.Ser91fs)
NM_000368.4(TSC1):c.2721del (p.Lys907fs)
NM_000368.4(TSC1):c.276dup (p.Leu93fs) rs118203362
NM_000368.4(TSC1):c.325C>T (p.Gln109Ter) rs397514774
NM_000368.4(TSC1):c.395_406delinsCA (p.Gly132fs) rs118203380
NM_000368.4(TSC1):c.445C>T (p.Gln149Ter) rs118203384
NM_000368.4(TSC1):c.539T>C (p.Leu180Pro) rs118203396
NM_000368.4(TSC1):c.555C>G (p.Tyr185Ter)
NM_000368.4(TSC1):c.664-1G>C rs118203423
NM_000368.4(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.4(TSC1):c.734dup (p.Arg246fs)
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.4(TSC1):c.749T>A (p.Leu250Ter) rs118203447
NM_000368.4(TSC1):c.751G>T (p.Glu251Ter) rs1554817691
NM_000368.4(TSC1):c.825T>G (p.Tyr275Ter) rs118203454
NM_000368.4(TSC1):c.850dup (p.Arg284fs) rs1554817612
NM_000368.4(TSC1):c.866C>G (p.Ser289Ter) rs397514867
NM_000368.4(TSC1):c.86_90dup (p.Glu31fs) rs1564504869
NM_000368.4(TSC1):c.871_886dup (p.Pro296fs)
NM_000368.4(TSC1):c.897_898CA[2] (p.Gln301fs) rs118203464
NM_000368.4(TSC1):c.901C>T (p.Gln301Ter) rs118203463
NM_000368.4(TSC1):c.965_978del (p.Met322fs)
NM_000368.4(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.4(TSC1):c.988_989insGA (p.Leu330fs) rs1564488810
NM_000368.4(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.4(TSC1):c.997_998del (p.Pro333fs) rs1564488773

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