ClinVar Miner

List of variants reported as uncertain significance for Tuberous sclerosis syndrome

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Total variants: 162
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HGVS dbSNP
NM_000368.4(TSC1):c.*1000A>G rs886063610
NM_000368.4(TSC1):c.*106A>G rs886063620
NM_000368.4(TSC1):c.*1089G>A rs886063609
NM_000368.4(TSC1):c.*1508A>G rs552190342
NM_000368.4(TSC1):c.*1519C>T rs886063608
NM_000368.4(TSC1):c.*1519del rs886063607
NM_000368.4(TSC1):c.*1541dup rs748099884
NM_000368.4(TSC1):c.*1612C>A rs886063605
NM_000368.4(TSC1):c.*1969T>C rs886063604
NM_000368.4(TSC1):c.*1970G>A rs886063603
NM_000368.4(TSC1):c.*2022G>T rs568052856
NM_000368.4(TSC1):c.*2213C>A rs539030496
NM_000368.4(TSC1):c.*2364T>A rs886063602
NM_000368.4(TSC1):c.*2439C>A rs886063601
NM_000368.4(TSC1):c.*2475C>A rs886063600
NM_000368.4(TSC1):c.*2576T>C rs886063599
NM_000368.4(TSC1):c.*2615C>A rs886063598
NM_000368.4(TSC1):c.*2632A>G rs886063597
NM_000368.4(TSC1):c.*2644G>T rs886063596
NM_000368.4(TSC1):c.*2647C>T rs886063595
NM_000368.4(TSC1):c.*2658G>T rs886063594
NM_000368.4(TSC1):c.*2679T>C rs886063593
NM_000368.4(TSC1):c.*2691A>T rs886063592
NM_000368.4(TSC1):c.*2829A>G rs886063591
NM_000368.4(TSC1):c.*2893dup rs143549363
NM_000368.4(TSC1):c.*2897A>G rs886063589
NM_000368.4(TSC1):c.*2949A>T rs886063588
NM_000368.4(TSC1):c.*298A>G rs886063619
NM_000368.4(TSC1):c.*3047C>A rs886063587
NM_000368.4(TSC1):c.*3063A>T rs886063586
NM_000368.4(TSC1):c.*3238T>C rs886063585
NM_000368.4(TSC1):c.*3239G>T rs886063584
NM_000368.4(TSC1):c.*3240G>T rs886063583
NM_000368.4(TSC1):c.*3248_*3250del rs886063582
NM_000368.4(TSC1):c.*3284C>A rs886063581
NM_000368.4(TSC1):c.*3285G>T rs886063580
NM_000368.4(TSC1):c.*3330G>T rs553475307
NM_000368.4(TSC1):c.*333C>A rs886063618
NM_000368.4(TSC1):c.*3531G>T rs886063579
NM_000368.4(TSC1):c.*3543C>A rs886063578
NM_000368.4(TSC1):c.*3565C>T rs771494783
NM_000368.4(TSC1):c.*3658G>A rs886063577
NM_000368.4(TSC1):c.*3737C>A rs886063576
NM_000368.4(TSC1):c.*3924G>T rs886063575
NM_000368.4(TSC1):c.*3987A>G rs886063574
NM_000368.4(TSC1):c.*4072G>A rs886063573
NM_000368.4(TSC1):c.*4128G>A rs886063572
NM_000368.4(TSC1):c.*4159G>T rs886063571
NM_000368.4(TSC1):c.*4167C>A rs886063570
NM_000368.4(TSC1):c.*4193A>C rs886063569
NM_000368.4(TSC1):c.*4233G>T rs886063568
NM_000368.4(TSC1):c.*4248C>A rs886063567
NM_000368.4(TSC1):c.*4248C>T rs886063567
NM_000368.4(TSC1):c.*4356C>T rs886063566
NM_000368.4(TSC1):c.*4447C>T rs112968492
NM_000368.4(TSC1):c.*448G>A rs886063617
NM_000368.4(TSC1):c.*4515G>A rs886063565
NM_000368.4(TSC1):c.*4622G>A rs886063564
NM_000368.4(TSC1):c.*4631dup rs60000611
NM_000368.4(TSC1):c.*4826A>C rs886063563
NM_000368.4(TSC1):c.*4845G>T rs886063562
NM_000368.4(TSC1):c.*548C>A rs886063616
NM_000368.4(TSC1):c.*583C>A rs886063615
NM_000368.4(TSC1):c.*817G>T rs886063614
NM_000368.4(TSC1):c.*824C>T rs886063613
NM_000368.4(TSC1):c.*859G>T rs886063612
NM_000368.4(TSC1):c.*920C>A rs886063611
NM_000368.4(TSC1):c.-166A>G rs886063626
NM_000368.4(TSC1):c.-174A>T rs886063627
NM_000368.4(TSC1):c.-214C>T rs886063628
NM_000368.4(TSC1):c.-227G>A rs886063629
NM_000368.4(TSC1):c.-35G>A rs370122384
NM_000368.4(TSC1):c.-80-10T>C rs886063625
NM_000368.4(TSC1):c.108C>T (p.Asp36=) rs886063624
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1745C>T (p.Thr582Ile) rs886063623
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2626-3_2626-2insTA rs760737807
NM_000368.4(TSC1):c.2626-3del rs886063622
NM_000368.4(TSC1):c.2626-4_2626-3dup rs1554813638
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3252A>C (p.Ser1084=) rs886063621
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000548.5(TSC2):c.*23C>T rs774841226
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.*77G>A rs886051799
NM_000548.5(TSC2):c.-85G>C rs540716235
NM_000548.5(TSC2):c.-87A>G rs886051785
NM_000548.5(TSC2):c.1257+8C>A rs767392684
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1362-9G>A rs763842281
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp) rs886051788
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.5(TSC2):c.1600-13C>G rs1800712
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg) rs775195398
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.5(TSC2):c.1836G>A (p.Leu612=) rs758839898
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala) rs878854080
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile) rs201769220
NM_000548.5(TSC2):c.2097+13G>A rs367915255
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.5(TSC2):c.226-4A>G rs886051786
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile) rs886051790
NM_000548.5(TSC2):c.2355+8G>A rs199558375
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.5(TSC2):c.2546-4G>A rs746958032
NM_000548.5(TSC2):c.258G>C (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2838-5G>A rs876660419
NM_000548.5(TSC2):c.2838-6C>T rs528706539
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro) rs886051792
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe) rs886051793
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp) rs777489742
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=) rs786202178
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=) rs886051794
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795
NM_000548.5(TSC2):c.4849+13G>A rs780953278
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu) rs747538587
NM_000548.5(TSC2):c.5267A>G (p.Glu1756Gly) rs886051797
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=) rs886051798
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017
NM_000548.5(TSC2):c.849-13G>A rs886051787
NM_001162426.2(TSC1):c.2623-21_2623-19dup rs5901000

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