ClinVar for MedGen (Select 339510) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382768	NM_000548.5(TSC2):c.3003del (p.Ser1002fs)	TSC2 (S1001fs +25 more)	Deletion (frameshift variant +1 more)	Lymphangiomyomatosis +2 more	GPathogenic
Select item 3382611	NM_000368.5(TSC1):c.741G>A (p.Trp247Ter)	TSC1 (W126* +2 more)	Single nucleotide variant (nonsense +2 more)	Tuberous sclerosis 1 +2 more	GPathogenic
Select item 3382198	NM_000548.5(TSC2):c.4138_4195del (p.Gln1380fs)	TSC2 (Q1113fs +34 more)	Deletion (frameshift variant +1 more)	Lymphangiomyomatosis +2 more	GPathogenic
Select item 3381867	NM_000548.5(TSC2):c.716_719del (p.Phe239fs)	TSC2 (F190fs +8 more)	Deletion (frameshift variant +2 more)	Lymphangiomyomatosis +2 more	GPathogenic
Select item 3362489	NM_004958.4(MTOR):c.4872G>C (p.Gln1624His)	MTOR, MTOR-AS1 (Q1208H +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240660	NM_000548.5(TSC2):c.4235C>T (p.Pro1412Leu)	TSC2 (P1145L +34 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
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 3240657	NM_000548.5(TSC2):c.4475T>C (p.Val1492Ala)	TSC2 (V1000A +34 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240655	NM_000548.5(TSC2):c.5259+34C>T	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240654	NM_000548.5(TSC2):c.3010G>T (p.Asp1004Tyr)	TSC2 (D1003Y +25 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	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 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 3240650	NM_000368.5(TSC1):c.2814-2A>T	TSC1	Single nucleotide variant (splice acceptor variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240649	NM_000368.5(TSC1):c.575A>G (p.Tyr192Cys)	TSC1 (Y141C +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240648	NM_000368.5(TSC1):c.2504T>A (p.Leu835His)	TSC1 (L484H +15 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240647	NM_000368.5(TSC1):c.2378G>T (p.Ser793Ile)	TSC1 (S442I +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240646	NM_000368.5(TSC1):c.2392-93C>T	TSC1	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240645	NM_000368.5(TSC1):c.1264-3C>G	TSC1	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240644	NM_000368.5(TSC1):c.2869G>T (p.Val957Leu)	TSC1 (V606L +15 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240643	NM_000368.5(TSC1):c.315T>A (p.His105Gln)	TSC1 (H105Q)	Single nucleotide variant (missense variant +3 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 3240642	NM_000368.5(TSC1):c.616C>T (p.His206Tyr)	TSC1 (H155Y +2 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3238630	NM_005614.4(RHEB):c.104_105delinsTA (p.Tyr35Leu)	RHEB (Y35L)	Indel (missense variant)	Isolated focal cortical dysplasia type II	GPathogenic
Select item 3232117	NM_000548.5(TSC2):c.2524C>G (p.Pro842Ala)	TSC2 (P308A +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3067954	NM_004958.4(MTOR):c.1519C>G (p.Pro507Ala)	MTOR (P507A +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3065102	NM_004958.4(MTOR):c.7165G>T (p.Val2389Phe)	MTOR (V1973F +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3065018	NM_004958.4(MTOR):c.5989A>G (p.Asn1997Asp)	MTOR (N1581D +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2995300	NM_000548.5(TSC2):c.3503A>G (p.Lys1168Arg)	TSC2 (K1076R +25 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2990275	NM_000548.5(TSC2):c.3637G>A (p.Glu1213Lys)	TSC2 (E1012K +25 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 2982082	NM_004958.4(MTOR):c.6455G>A (p.Arg2152His)	MTOR (R2152H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2897677	NM_000368.5(TSC1):c.1072C>T (p.Pro358Ser)	TSC1 (P8S +4 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2723932	NM_000548.5(TSC2):c.3458C>T (p.Ala1153Val)	TSC2 (A1073V +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +1 more	GUncertain significance
Select item 2679350	NM_000548.5(TSC2):c.3263T>C (p.Leu1088Pro)	TSC2 (L1007P +25 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679349	NM_000548.5(TSC2):c.5260-18A>G	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679348	NM_000548.5(TSC2):c.3284+1dup	TSC2	Duplication (splice donor variant)	Isolated focal cortical dysplasia type II	GLikely pathogenic
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 2679346	NM_000548.5(TSC2):c.2512A>G (p.Ser838Gly)	TSC2 (S304G +10 more)	Single nucleotide variant (missense variant +1 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 2679344	NM_000548.5(TSC2):c.2288A>C (p.His763Pro)	TSC2 (H229P +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
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 2679341	NM_000548.5(TSC2):c.5102_5104del (p.Lys1701del)	TSC2 (K1100del +34 more)	Deletion (inframe deletion +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679340	NM_000548.5(TSC2):c.4850-5C>G	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	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 2679338	NM_000548.5(TSC2):c.3167G>A (p.Arg1056Lys)	TSC2 (R1006K +25 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	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 2679335	NM_000548.5(TSC2):c.3227G>C (p.Gly1076Ala)	TSC2 (G1013A +25 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679334	NM_000548.5(TSC2):c.5302G>C (p.Val1768Leu)	TSC2 (V1167L +35 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679333	NM_000548.5(TSC2):c.5391C>G (p.Ile1797Met)	TSC2 (I1196M +35 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679332	NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val)	TSC2 (L1189V +34 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GConflicting classifications of pathogenicity
Select item 2679331	NM_000548.5(TSC2):c.4146del (p.Ser1383fs)	TSC2 (S1116fs +34 more)	Deletion (frameshift variant +1 more)	Isolated focal cortical dysplasia type II	GLikely pathogenic
Select item 2679330	NM_000548.5(TSC2):c.2734A>C (p.Ile912Leu)	TSC2 (I912L +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679329	NM_000548.5(TSC2):c.2546-6C>G	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679328	NM_000548.5(TSC2):c.4744A>G (p.Ile1582Val)	TSC2 (I1067V +34 more)	Single nucleotide variant (missense variant +1 more)	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 2679326	NM_000548.5(TSC2):c.5174T>C (p.Val1725Ala)	TSC2 (V1124A +35 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2679325	NM_000548.5(TSC2):c.1955A>T (p.Glu652Val)	TSC2 (E118V +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	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 2679323	NM_000548.5(TSC2):c.4435G>C (p.Ala1479Pro)	TSC2 (A1008P +34 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679322	NM_000368.5(TSC1):c.1264-2A>G	TSC1	Single nucleotide variant (splice acceptor variant)	Isolated focal cortical dysplasia type II	GLikely pathogenic
Select item 2679321	NM_000368.5(TSC1):c.496C>G (p.Leu166Val)	TSC1 (L115V +2 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 2679320	NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)	TSC1 (L614fs +15 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 2679319	NM_000368.5(TSC1):c.323C>T (p.Ser108Phe)	TSC1 (S108F)	Single nucleotide variant (missense variant +3 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679318	NM_000368.5(TSC1):c.2470A>C (p.Thr824Pro)	TSC1 (T473P +10 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679317	NM_000368.5(TSC1):c.3292A>G (p.Asn1098Asp)	TSC1 (N1032D +15 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679316	NM_000368.5(TSC1):c.3190_3192del (p.Glu1064del)	TSC1 (E1012del +15 more)	Deletion (inframe deletion +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679315	NM_000368.5(TSC1):c.2208+7A>T	TSC1	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679314	NM_000368.5(TSC1):c.664-43C>G	TSC1	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679313	NM_000368.5(TSC1):c.107-1G>C	TSC1	Single nucleotide variant (splice acceptor variant +1 more)	Isolated focal cortical dysplasia type II	GLikely pathogenic
Select item 2679312	NM_000368.5(TSC1):c.2191G>A (p.Glu731Lys)	TSC1 (E380K +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679311	NM_000368.5(TSC1):c.796C>G (p.Pro266Ala)	TSC1 (P145A +2 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679310	NM_000368.5(TSC1):c.1076C>T (p.Pro359Leu)	TSC1 (P238L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679309	NM_000368.5(TSC1):c.526T>C (p.Tyr176His)	TSC1 (Y125H +2 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2679308	NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)	TSC1 (K272R +8 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2679307	NM_000368.5(TSC1):c.203A>T (p.His68Leu)	TSC1 (H68L)	Single nucleotide variant (intron variant +3 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679306	NM_000368.5(TSC1):c.3224C>G (p.Pro1075Arg)	TSC1 (P1009R +15 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679305	NM_000368.5(TSC1):c.225G>C (p.Arg75Ser)	TSC1 (R75S)	Single nucleotide variant (missense variant +3 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679304	NM_000368.5(TSC1):c.1966G>A (p.Gly656Arg)	TSC1 (G305R +8 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679303	NM_000368.5(TSC1):c.173T>C (p.Leu58Ser)	TSC1 (L58S)	Single nucleotide variant (missense variant +3 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679302	NM_000368.5(TSC1):c.2102A>G (p.Gln701Arg)	TSC1 (Q350R +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679301	NM_000368.5(TSC1):c.2093T>C (p.Leu698Pro)	TSC1 (L347P +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679300	NM_000368.5(TSC1):c.2185C>G (p.Leu729Val)	TSC1 (L378V +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2672094	NM_004958.4(MTOR):c.4376C>A (p.Ala1459Asp)	MTOR (A1043D +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GPathogenic
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 2624599	NM_000548.5(TSC2):c.2755A>G (p.Asn919Asp)	TSC2 (N765D +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 2587783	NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr)	TSC2 (A1218T +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 2500105	NM_000548.5(TSC2):c.4582G>T (p.Glu1528Ter)	TSC2 (E1013* +34 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 2 +2 more	GPathogenic
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 2449950	NM_000548.5(TSC2):c.2896T>G (p.Phe966Val)	TSC2 (F917V +4 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2447866	NM_000368.5(TSC1):c.35_69del (p.Ala12fs)	TSC1 (A12fs)	Deletion (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 2428914	NM_000368.5(TSC1):c.2975+1G>A	TSC1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 2202023	NM_004958.4(MTOR):c.4541G>A (p.Arg1514Gln)	MTOR (R1098Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2159049	NM_004958.4(MTOR):c.1052C>T (p.Pro351Leu)	MTOR (P351L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2157965	NM_000368.5(TSC1):c.2899G>T (p.Gly967Cys)	TSC1 (G901C +15 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2157737	NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val)	TSC2 (A1088V +34 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2094944	NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)	TSC1 (D376N +10 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 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 2039688	NM_000368.5(TSC1):c.2234A>G (p.Lys745Arg)	TSC1 (K745R +10 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
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 1963301	NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)	TSC1 (D383Y +8 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 1809681	NM_004958.4(MTOR):c.2751_2752del (p.Ser918fs)	MTOR (S502fs +1 more)	Deletion (frameshift variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance

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