"PreventionGenetics, part of Exact Sciences"[submitter] AND "TSC2"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 708448	NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys)	NTHL1, TSC2 (R25K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 507556	NM_000548.5(TSC2):c.-36G>A	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	TSC2-related disorder +1 more	GLikely benign
Select item 207788	NM_000548.5(TSC2):c.-30+2T>C	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	TSC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 49194	NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)	TSC2 (K7R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 467862	NM_000548.5(TSC2):c.134T>G (p.Leu45Arg)	TSC2 (L45R +1 more)	Single nucleotide variant (missense variant +2 more)	TSC2-related disorder +2 more	GUncertain significance
Select item 3032601	NM_000548.5(TSC2):c.138+9G>A	TSC2	Single nucleotide variant (intron variant)	TSC2-related disorder	GLikely benign
Select item 237966	NM_000548.5(TSC2):c.148A>G (p.Met50Val)	TSC2 (M50V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 161398	NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)	TSC2 (N56S +2 more)	Single nucleotide variant (missense variant +1 more)	TSC2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 161399	NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)	TSC2 (E75K +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +3 more	GBenign/Likely benign
Select item 256623	NM_000548.5(TSC2):c.225+12C>A	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +3 more	GLikely benign
Select item 256624	NM_000548.5(TSC2):c.226-13C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 65180	NM_000548.5(TSC2):c.226-1G>A	TSC2	Single nucleotide variant (splice acceptor variant +1 more)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 49202	NM_000548.5(TSC2):c.228C>T (p.His76=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 753532	NM_000548.5(TSC2):c.234G>A (p.Val78=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +2 more	GLikely benign
Select item 766727	NM_000548.5(TSC2):c.252G>A (p.Ala84=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 49572	NM_000548.5(TSC2):c.255C>T (p.Val85=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 574849	NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)	TSC2 (A86T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318305	NM_000548.5(TSC2):c.258G>C (p.Ala86=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	TSC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 467958	NM_000548.5(TSC2):c.270G>A (p.Gln90=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	TSC2-related disorder +4 more	GBenign/Likely benign
Select item 535967	NM_000548.5(TSC2):c.271C>T (p.Pro91Ser)	TSC2 (P91S +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 50116	NM_000548.5(TSC2):c.275A>T (p.Glu92Val)	TSC2 (E92V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 406038	NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)	TSC2 (P94L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2632786	NM_000548.5(TSC2):c.291_299del (p.Arg98_Ala100del)	TSC2	Deletion (inframe_deletion +3 more)	TSC2-related disorder	GUncertain significance
Select item 238003	NM_000548.5(TSC2):c.291C>G (p.Ala97=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 413705	NM_000548.5(TSC2):c.292C>A (p.Arg98=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +2 more	GBenign/Likely benign
Select item 467983	NM_000548.5(TSC2):c.297C>T (p.His99=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	TSC2-related disorder +4 more	GBenign/Likely benign
Select item 467984	NM_000548.5(TSC2):c.299C>T (p.Ala100Val)	TSC2 (A100V +2 more)	Single nucleotide variant (missense variant +1 more)	TSC2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 50170	NM_000548.5(TSC2):c.300G>A (p.Ala100=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 413736	NM_000548.5(TSC2):c.327G>A (p.Val109=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 49810	NM_000548.5(TSC2):c.336+33G>T	TSC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 256628	NM_000548.5(TSC2):c.337-26G>C	TSC2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 289837	NM_000548.5(TSC2):c.354C>G (p.Val118=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 65374	NM_000548.5(TSC2):c.482-27C>T	TSC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 516773	NM_000548.5(TSC2):c.482-20T>A	TSC2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1599284	NM_000548.5(TSC2):c.482-16G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +3 more	GBenign/Likely benign
Select item 49957	NM_000548.5(TSC2):c.482-3C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +4 more	GBenign
Select item 318306	NM_000548.5(TSC2):c.552C>T (p.Val184=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	TSC2-related disorder +4 more	GBenign/Likely benign
Select item 413654	NM_000548.5(TSC2):c.576C>T (p.Asp192=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 207703	NM_000548.5(TSC2):c.583A>G (p.Ile195Val)	TSC2 (I195V +3 more)	Single nucleotide variant (missense variant +1 more)	TSC2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 3046888	NM_000548.5(TSC2):c.600-155G>A	TSC2	Single nucleotide variant (5 prime UTR variant +1 more)	TSC2-related disorder	GLikely benign
Select item 452900	NM_000548.5(TSC2):c.648+6T>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 256636	NM_000548.5(TSC2):c.649-35G>T	TSC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 49892	NM_000548.5(TSC2):c.681C>T (p.Cys227=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 207769	NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)	TSC2 (P237L +4 more)	Single nucleotide variant (missense variant)	TSC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 256637	NM_000548.5(TSC2):c.726C>T (p.Thr242=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +6 more	GBenign/Likely benign
Select item 49382	NM_000548.5(TSC2):c.729C>G (p.Leu243=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 65021	NM_000548.5(TSC2):c.734G>A (p.Arg245His)	TSC2 (R245H +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 413669	NM_000548.5(TSC2):c.735C>T (p.Arg245=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +3 more	GLikely benign
Select item 2630731	NM_000548.5(TSC2):c.774G>A (p.Lys258=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	TSC2-related disorder	GUncertain significance
Select item 238092	NM_000548.5(TSC2):c.775-5C>T	TSC2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 238093	NM_000548.5(TSC2):c.814G>A (p.Ala272Thr)	TSC2 (A272T +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +5 more	GBenign/Likely benign
Select item 184662	NM_000548.5(TSC2):c.837C>T (p.Leu279=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 49399	NM_000548.5(TSC2):c.848+7G>A	TSC2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 256638	NM_000548.5(TSC2):c.849-6T>G	TSC2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 234027	NM_000548.5(TSC2):c.849-4T>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 50009	NM_000548.5(TSC2):c.856A>G (p.Met286Val)	TSC2 (M286V +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +6 more	GBenign/Likely benign
Select item 238095	NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)	TSC2 (E287D +4 more)	Single nucleotide variant (missense variant)	TSC2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 207707	NM_000548.5(TSC2):c.866C>T (p.Ala289Val)	TSC2 (A289V +4 more)	Single nucleotide variant (missense variant)	TSC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 65143	NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)	TSC2 (W304R +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +6 more	GConflicting classifications of pathogenicity
Select item 49405	NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)	TSC2 (W304* +4 more)	Single nucleotide variant (nonsense)	TSC2-related disorder	GPathogenic
Select item 238096	NM_000548.5(TSC2):c.921C>G (p.His307Gln)	TSC2 (H307Q +4 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1158102	NM_000548.5(TSC2):c.936C>G (p.Leu312=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 256639	NM_000548.5(TSC2):c.945G>A (p.Ser315=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 49395	NM_000548.5(TSC2):c.948G>A (p.Pro316=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +6 more	GBenign/Likely benign
Select item 64946	NM_000548.5(TSC2):c.975+13C>T	TSC2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 49396	NM_000548.5(TSC2):c.976-15G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +4 more	GPathogenic
Select item 468196	NM_000548.5(TSC2):c.990G>A (p.Pro330=)	TSC2	Single nucleotide variant (synonymous variant)	TSC2-related disorder +4 more	GBenign/Likely benign
Select item 3039986	NM_000548.5(TSC2):c.1012A>T (p.Ile338Phe)	TSC2 (I138F +8 more)	Single nucleotide variant (missense variant +2 more)	TSC2-related disorder	GUncertain significance
Select item 535974	NM_000548.5(TSC2):c.1015G>A (p.Val339Ile)	TSC2 (V339I +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 41725	NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)	TSC2 (R367Q +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 49141	NM_000548.5(TSC2):c.1110G>A (p.Gln370=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 467844	NM_000548.5(TSC2):c.1119+6_1119+28del	TSC2	Deletion (intron variant)	TSC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 719192	NM_000548.5(TSC2):c.1120-6C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +1 more	GLikely benign
Select item 287554	NM_000548.5(TSC2):c.1134G>A (p.Pro378=)	TSC2	Single nucleotide variant (synonymous variant)	TSC2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 49666	NM_000548.5(TSC2):c.1143G>A (p.Arg381=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 184142	NM_000548.5(TSC2):c.1170G>A (p.Thr390=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 486607	NM_000548.5(TSC2):c.1203C>T (p.His401=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 49676	NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)	TSC2 (Q404* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 184138	NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)	TSC2 (A415V +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 49150	NM_000548.5(TSC2):c.1276C>T (p.Leu426=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 3061195	NM_000548.5(TSC2):c.1278G>C (p.Leu426=)	TSC2	Single nucleotide variant (synonymous variant +3 more)	TSC2-related disorder	GUncertain significance
Select item 49685	NM_000548.5(TSC2):c.1281C>A (p.Ile427=)	TSC2	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +6 more	GBenign/Likely benign
Select item 49644	NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)	TSC2 (S428del +4 more)	Deletion (inframe_deletion)	Tuberous sclerosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 207708	NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)	TSC2 (A431V +4 more)	Single nucleotide variant (missense variant)	TSC2-related disorder +5 more	GBenign/Likely benign
Select item 467859	NM_000548.5(TSC2):c.1311C>A (p.Ala437=)	TSC2	Single nucleotide variant (synonymous variant)	TSC2-related disorder +3 more	GBenign/Likely benign
Select item 41726	NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)	TSC2 (G440S +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 256618	NM_000548.5(TSC2):c.1332C>T (p.Asn444=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 137738	NM_000548.5(TSC2):c.1361+18G>C	TSC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 50185	NM_000548.5(TSC2):c.1362-10C>A	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +4 more	GConflicting classifications of pathogenicity
Select item 65195	NM_000548.5(TSC2):c.1362-4G>A	TSC2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 207658	NM_000548.5(TSC2):c.1365C>T (p.Ser455=)	TSC2	Single nucleotide variant (synonymous variant)	TSC2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 759787	NM_000548.5(TSC2):c.1377C>G (p.Gly459=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +1 more	GLikely benign
Select item 49674	NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)	TSC2 (I463V +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 237965	NM_000548.5(TSC2):c.1398G>A (p.Leu466=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 1021118	NM_000548.5(TSC2):c.1443+4C>G	TSC2	Single nucleotide variant (intron variant)	TSC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 64938	NM_000548.5(TSC2):c.1443+18C>T	TSC2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 660968	NM_000548.5(TSC2):c.1490C>A (p.Pro497His)	TSC2 (P448H +4 more)	Single nucleotide variant (missense variant)	TSC2-related disorder +2 more	GUncertain significance
Select item 413658	NM_000548.5(TSC2):c.1491C>T (p.Pro497=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 141670	NM_000548.5(TSC2):c.1512C>G (p.Val504=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 861596	NM_000548.5(TSC2):c.1564CAC[1] (p.His523del)	TSC2 (H474del +4 more)	Microsatellite (inframe_deletion)	Tuberous sclerosis 2 +3 more	GUncertain significance

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