"Baylor Genetics"[submitter] AND "TSC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 647900	NM_002528.7(NTHL1):c.275G>A (p.Arg92His)	NTHL1, TSC2 (R92H)	Single nucleotide variant (missense variant +1 more)	Lymphangiomyomatosis +6 more	GUncertain significance
Select item 207767	NM_000548.5(TSC2):c.-30+1G>C	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	Lymphangiomyomatosis +3 more	GUncertain significance
Select item 133423	NM_000548.5(TSC2):c.-30+1G>T	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 1060157	NM_000548.5(TSC2):c.39G>T (p.Glu13Asp)	TSC2 (E13D +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 3240659	NM_000548.5(TSC2):c.83C>G (p.Pro28Arg)	TSC2 (P28R +1 more)	Single nucleotide variant (missense variant +3 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 576521	NM_000548.5(TSC2):c.89C>G (p.Ser30Cys)	TSC2 (S30C +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 655432	NM_000548.5(TSC2):c.121A>T (p.Thr41Ser)	TSC2 (T41S +1 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2679345	NM_000548.5(TSC2):c.125C>G (p.Ala42Gly)	TSC2 (A42G +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 467862	NM_000548.5(TSC2):c.134T>G (p.Leu45Arg)	TSC2 (L45R +1 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 1511595	NM_000548.5(TSC2):c.142C>G (p.Leu48Val)	TSC2 (L48V +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GConflicting classifications of pathogenicity
Select item 1028340	NM_000548.5(TSC2):c.146G>A (p.Ser49Asn)	TSC2 (S60N +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GUncertain significance
Select item 819437	NM_000548.5(TSC2):c.153A>T (p.Glu51Asp)	TSC2 (E51D +2 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +2 more	GConflicting classifications of pathogenicity
Select item 852430	NM_000548.5(TSC2):c.160C>T (p.Leu54Phe)	TSC2 (L54F +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1007004	NM_000548.5(TSC2):c.183A>G (p.Ile61Met)	TSC2 (I12M +2 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +2 more	GConflicting classifications of pathogenicity
Select item 65108	NM_000548.5(TSC2):c.190A>G (p.Ile64Val)	TSC2 (I64V +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1784866	NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)	TSC2 (A19G +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 467927	NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)	TSC2 (K72R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 576940	NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)	TSC2 (A77T +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 49738	NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	TSC2 (Q90* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 535967	NM_000548.5(TSC2):c.271C>T (p.Pro91Ser)	TSC2 (P91S +2 more)	Single nucleotide variant (missense variant +1 more)	TSC2-related disorder +3 more	GUncertain significance
Select item 467970	NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)	TSC2 (R93Q +2 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 643234	NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)	TSC2 (R98Q +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 207698	NM_000548.5(TSC2):c.325G>A (p.Val109Met)	TSC2 (V109M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3240651	NM_000548.5(TSC2):c.332G>A (p.Gly111Glu)	TSC2 (G111E +2 more)	Single nucleotide variant (missense variant +3 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 648180	NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)	TSC2 (F87L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 962260	NM_000548.5(TSC2):c.391C>G (p.Pro131Ala)	TSC2 (P142A +3 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +2 more	GConflicting classifications of pathogenicity
Select item 664782	NM_000548.5(TSC2):c.439A>G (p.Thr147Ala)	TSC2 (T147A +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 536005	NM_000548.5(TSC2):c.476A>T (p.Glu159Val)	TSC2 (E159V +3 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 486635	NM_000548.5(TSC2):c.499T>C (p.Trp167Arg)	TSC2 (W167R +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome +3 more	GUncertain significance
Select item 468130	NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)	TSC2 (W167C +3 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 1749603	NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)	TSC2 (E144Q +6 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 581042	NM_000548.5(TSC2):c.585C>G (p.Ile195Met)	TSC2 (I195M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 64873	NM_000548.5(TSC2):c.599+3A>G	TSC2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1028343	NM_000548.5(TSC2):c.600-2A>T	TSC2	Single nucleotide variant (5 prime UTR variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 238090	NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)	TSC2 (S211F +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 49379	NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)	TSC2 (E216K +4 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +4 more	GUncertain significance
Select item 207706	NM_000548.5(TSC2):c.718A>G (p.Ile240Val)	TSC2 (I240V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 535999	NM_000548.5(TSC2):c.721G>C (p.Val241Leu)	TSC2 (V241L +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2679324	NM_000548.5(TSC2):c.724A>G (p.Thr242Ala)	TSC2 (T193A +8 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 49384	NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)	TSC2 (T246A +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 536104	NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)	TSC2 (N248S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 643020	NM_000548.5(TSC2):c.746T>C (p.Val249Ala)	TSC2 (V200A +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 855925	NM_000548.5(TSC2):c.748A>G (p.Lys250Glu)	TSC2 (K201E +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 468184	NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)	TSC2 (R261G +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GUncertain significance
Select item 665722	NM_000548.5(TSC2):c.847A>G (p.Arg283Gly)	TSC2 (R246G +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2626435	NM_000548.5(TSC2):c.850G>A (p.Ala284Thr)	TSC2 (A247T +8 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 1973970	NM_000548.5(TSC2):c.916G>T (p.Ala306Ser)	TSC2 (A152S +8 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 238096	NM_000548.5(TSC2):c.921C>G (p.His307Gln)	TSC2 (H307Q +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +6 more	GConflicting classifications of pathogenicity
Select item 405963	NM_000548.5(TSC2):c.934C>T (p.Leu312Phe)	TSC2 (L312F +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 468193	NM_000548.5(TSC2):c.955G>A (p.Val319Met)	TSC2 (V319M +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2413025	NM_000548.5(TSC2):c.995A>G (p.Glu332Gly)	TSC2 (E132G +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 49653	NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys)	TSC2 (S335C +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 2679336	NM_000548.5(TSC2):c.1024A>C (p.Ile342Leu)	TSC2 (I142L +8 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 651839	NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)	TSC2 (L353V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 207710	NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)	TSC2 (L361V +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder +5 more	GConflicting classifications of pathogenicity
Select item 405972	NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)	TSC2 (L372P +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 237959	NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg)	TSC2 (P378R +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1471872	NM_000548.5(TSC2):c.1180C>A (p.Leu394Met)	TSC2 (L357M +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 535881	NM_000548.5(TSC2):c.1180C>G (p.Leu394Val)	TSC2 (L394V +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 486658	NM_000548.5(TSC2):c.1187A>T (p.Asp396Val)	TSC2 (D396V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 862651	NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)	TSC2 (E199K +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1301335	NM_000548.5(TSC2):c.1202A>C (p.His401Pro)	TSC2 (H201P +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 933939	NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp)	TSC2 (G365W +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 818583	NM_000548.5(TSC2):c.1205G>A (p.Gly402Glu)	TSC2 (G353E +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 467851	NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly)	TSC2 (E405G +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 3240652	NM_000548.5(TSC2):c.1215G>T (p.Glu405Asp)	TSC2 (E205D +8 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 64871	NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter)	TSC2 (Y407* +4 more)	Single nucleotide variant (nonsense)	Isolated focal cortical dysplasia type II	GLikely pathogenic
Select item 49683	NM_000548.5(TSC2):c.1257+2T>C	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 2679347	NM_000548.5(TSC2):c.1257+172C>G	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679327	NM_000548.5(TSC2):c.1258-6T>A	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 1028339	NM_000548.5(TSC2):c.1258-2A>G	TSC2	Single nucleotide variant (splice acceptor variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2679343	NM_000548.5(TSC2):c.1295A>G (p.Gln432Arg)	TSC2 (Q232R +8 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 1376226	NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln)	TSC2 (P387Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 207713	NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)	TSC2 (P436L +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 467860	NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)	TSC2 (D439E +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 207714	NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys)	TSC2 (N444K +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 467864	NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu)	TSC2 (F452L +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 50185	NM_000548.5(TSC2):c.1362-10C>A	TSC2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 318311	NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp)	TSC2 (G459D +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 50193	NM_000548.5(TSC2):c.1385G>A (p.Arg462His)	TSC2 (R462H +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 837633	NM_000548.5(TSC2):c.1389C>G (p.Ile463Met)	TSC2 (I426M +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 467870	NM_000548.5(TSC2):c.1417C>G (p.Leu473Val)	TSC2 (L473V +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 1009685	NM_000548.5(TSC2):c.1423A>G (p.Ile475Val)	TSC2 (I275V +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +3 more	GUncertain significance
Select item 383238	NM_000548.5(TSC2):c.1443+5G>A	TSC2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1773574	NM_000548.5(TSC2):c.1481C>A (p.Ser494Tyr)	TSC2 (S294Y +9 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 423778	NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe)	TSC2 (S494F +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 467877	NM_000548.5(TSC2):c.1495G>A (p.Asp499Asn)	TSC2 (D499N +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GUncertain significance
Select item 12396	NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	TSC2 (R505* +4 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 846290	NM_000548.5(TSC2):c.1559A>G (p.His520Arg)	TSC2 (H471R +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1481581	NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr)	TSC2 (I493T +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GUncertain significance
Select item 406006	NM_000548.5(TSC2):c.1601T>G (p.Val534Gly)	TSC2 (V534G +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 535951	NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu)	TSC2 (P542L +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 840867	NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro)	TSC2 (A506P +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GConflicting classifications of pathogenicity
Select item 819764	NM_000548.5(TSC2):c.1676A>G (p.Asp559Gly)	TSC2 (D359G +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 2679339	NM_000548.5(TSC2):c.1717A>C (p.Thr573Pro)	TSC2 (T125P +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 185164	NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser)	TSC2 (P579S +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2061296	NM_000548.5(TSC2):c.1786C>T (p.Leu596Phe)	TSC2 (L592F +10 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 486600	NM_000548.5(TSC2):c.1828A>G (p.Ile610Val)	TSC2 (I610V +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GConflicting classifications of pathogenicity
Select item 2449960	NM_000548.5(TSC2):c.1867G>A (p.Ala623Thr)	TSC2 (A175T +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 640367	NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu)	TSC2 (D435E +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance

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