List of variants in gene TSC2 reported as likely pathogenic by GeneDx

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)	rs137854345
NM_000548.5(TSC2):c.1096_1116del (p.Glu366_Leu372del)	rs1085307591
NM_000548.5(TSC2):c.1119G>C (p.Gln373His)	rs1057523727
NM_000548.5(TSC2):c.11dup (p.Thr5fs)	rs1596233685
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)	rs137854298
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly)	rs1057523509
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg)	rs45481199
NM_000548.5(TSC2):c.1443+5G>C	rs1057521562
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro)	rs397514922
NM_000548.5(TSC2):c.1716+1G>A	rs45517190
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	rs397514914
NM_000548.5(TSC2):c.2220G>A (p.Met740Ile)	rs2151319848
NM_000548.5(TSC2):c.2386_2457del (p.Leu796_Ile819del)	rs1555507504
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)	rs45517236
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro)	rs1057522911
NM_000548.5(TSC2):c.2545+5G>C	rs1131691965
NM_000548.5(TSC2):c.2743-9C>G	rs397515319
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro)	rs397515207
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)	rs1555510754
NM_000548.5(TSC2):c.336+5G>C	rs1057523242
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)	rs45462194
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)	rs796053505
NM_000548.5(TSC2):c.4255_4256del (p.Gln1419fs)	rs2151529577
NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser)	rs45517344
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)	rs45517355
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)	rs45517360
NM_000548.5(TSC2):c.4859A>T (p.His1620Leu)	rs397515177
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile)	rs397515220
NM_000548.5(TSC2):c.488T>C (p.Phe163Ser)	rs1596270677
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met)	rs1064796970
NM_000548.5(TSC2):c.5122del (p.Leu1708fs)	rs137854336
NM_000548.5(TSC2):c.5138_5149del (p.Arg1713_Ala1716del)	rs1064795156
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)	rs45517398
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)	rs45517414
NM_000548.5(TSC2):c.5259+2T>G	rs1555440894
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro)	rs45517131
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)	rs397515108
NM_000548.5(TSC2):c.976-10C>A	rs765990217

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