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

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: 91

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)	rs45517340	0.00003
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)	rs45438205	0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)	rs45517395	0.00001
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)	rs45469896
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)	rs45517159
NM_000548.5(TSC2):c.1257+2T>G	rs45509697
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)	rs45517169
NM_000548.5(TSC2):c.138+2T>C	rs137854226
NM_000548.5(TSC2):c.139G>T (p.Glu47Ter)	rs1555495676
NM_000548.5(TSC2):c.1439_1440del (p.Phe479_Tyr480insTer)
NM_000548.5(TSC2):c.1444-2A>G	rs45517174
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)	rs397515297
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	rs45517179
NM_000548.5(TSC2):c.1599+1G>A	rs45517182
NM_000548.5(TSC2):c.1717-12CT[2]	rs769094940
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter)	rs45517199
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	rs28934872
NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA	rs1555505742
NM_000548.5(TSC2):c.1946+1G>A	rs397514994
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs)	rs137854144
NM_000548.5(TSC2):c.2090dup (p.Leu697fs)	rs137854189
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)	rs45517213
NM_000548.5(TSC2):c.2113del (p.Val705fs)	rs1555506428
NM_000548.5(TSC2):c.2180del (p.Pro727fs)	rs2088578781
NM_000548.5(TSC2):c.2221-1G>A	rs45517218
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)	rs45517222
NM_000548.5(TSC2):c.226-2A>G	rs45517096
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)	rs45517226
NM_000548.5(TSC2):c.2355+2_2355+5del	rs137854250
NM_000548.5(TSC2):c.2356-1G>T	rs45481704
NM_000548.5(TSC2):c.2356-2A>C	rs45517229
NM_000548.5(TSC2):c.2362_2363dup (p.Met788fs)	rs2151346636
NM_000548.5(TSC2):c.2479_2480delinsC (p.Val827fs)	rs1555507612
NM_000548.5(TSC2):c.2639+1G>A	rs45517252
NM_000548.5(TSC2):c.2639+1G>C	rs45517252
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)	rs137854155
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	rs45517099
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)	rs45517258
NM_000548.5(TSC2):c.2747T>C (p.Leu916Pro)	rs137854405
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)	rs45465195
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)	rs137854076
NM_000548.5(TSC2):c.329del (p.Gln110fs)	rs1567395826
NM_000548.5(TSC2):c.337-1G>A	rs45517105
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs)	rs137854314
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)	rs45451497
NM_000548.5(TSC2):c.3448del (p.Leu1150fs)	rs1555511352
NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter)	rs1567504592
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)	rs137853993
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)	rs137854210
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)	rs1555512486
NM_000548.5(TSC2):c.3791del (p.Pro1264fs)	rs137854001
NM_000548.5(TSC2):c.4005+1G>C	rs45517324
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)	rs45517327
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs)	rs137854368
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs)	rs397515009
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs)	rs137854363
NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs)	rs1555514179
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)	rs45517337
NM_000548.5(TSC2):c.4369del (p.Arg1457fs)	rs1567524236
NM_000548.5(TSC2):c.4494-2A>G	rs397514990
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)	rs137854175
NM_000548.5(TSC2):c.45dup (p.Lys16Ter)	rs397515020
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)	rs45479192
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)	rs137854331
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)	rs137854261
NM_000548.5(TSC2):c.4925del (p.Gly1642fs)	rs137854156
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)	rs137854141
NM_000548.5(TSC2):c.4989+1G>A	rs45517386
NM_000548.5(TSC2):c.4990-1G>A	rs1555439650
NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly)	rs397515067
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)	rs45483392
NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs)	rs1555439753
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)	rs45517388
NM_000548.5(TSC2):c.5078del (p.Gly1693fs)	rs1555440022
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)	rs45517393
NM_000548.5(TSC2):c.5160+1G>A	rs45517399
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)	rs45472701
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)	rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218
NM_000548.5(TSC2):c.5252_5259+19del	rs137854397
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)	rs45517414
NM_000548.5(TSC2):c.5259+1del	rs137854317
NM_000548.5(TSC2):c.5289del (p.Ser1764fs)	rs1555441221
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)	rs137854359
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)	rs45517118
NM_000548.5(TSC2):c.648+1G>A	rs45488893
NM_000548.5(TSC2):c.826_827del (p.Met276fs)	rs137853977
NM_000548.5(TSC2):c.848+1G>A	rs45466296
NM_000548.5(TSC2):c.848+2T>G	rs1555499119
Single allele

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