ClinVar for PubMed (Select 10205261) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2913228	NM_000548.5(TSC2):c.2838-5_2859del	TSC2	Deletion (intron variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 2910389	NM_000548.5(TSC2):c.3684dup (p.Gln1229fs)	TSC2 (Q1148fs +25 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2861950	NM_000548.5(TSC2):c.4795del (p.Val1599fs)	TSC2 (V1332fs +34 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2860080	NM_000548.5(TSC2):c.3794dup (p.Leu1266fs)	TSC2 (L1023fs +25 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2857526	NM_000548.5(TSC2):c.894del (p.Phe298fs)	TSC2 (F249fs +8 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2857514	NM_000548.5(TSC2):c.4242dup (p.Lys1415Ter)	TSC2 (K1148* +34 more)	Duplication (nonsense +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2855992	NM_000548.5(TSC2):c.3255_3262del (p.Gly1086fs)	TSC2 (G1005fs +25 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2843606	NM_000548.5(TSC2):c.784_794dup (p.His267fs)	TSC2 (H230fs +8 more)	Duplication (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2842197	NM_000548.5(TSC2):c.4738dup (p.Arg1580fs)	TSC2 (R1065fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2838404	NM_000548.5(TSC2):c.1213G>T (p.Glu405Ter)	TSC2 (E356* +8 more)	Single nucleotide variant (nonsense +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2837611	NM_000548.5(TSC2):c.3190_3209dup (p.Ser1072_Val1073insLeuSerLeuTerThrSer)	TSC2	Duplication (nonsense +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2836870	NM_000548.5(TSC2):c.974_975del (p.Gln325fs)	TSC2 (Q171fs +8 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2836723	NM_000548.5(TSC2):c.690C>A (p.Cys230Ter)	TSC2 (C211* +8 more)	Single nucleotide variant (nonsense +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2835590	NM_000548.5(TSC2):c.2678_2679del (p.Ile893fs)	TSC2 (I856fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2834245	NM_000548.5(TSC2):c.3307A>T (p.Arg1103Ter)	TSC2 (R1010* +25 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2825137	NM_000548.5(TSC2):c.756_757dup (p.Cys253fs)	TSC2 (C234fs +8 more)	Microsatellite (non-coding transcript variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2822858	NM_000548.5(TSC2):c.3610+2T>C	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 2817812	NM_000548.5(TSC2):c.4070del (p.Ile1357fs)	TSC2 (I1091fs +34 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2816462	NM_000548.5(TSC2):c.3774del (p.Ser1259fs)	TSC2 (S1058fs +25 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2816262	NM_000548.5(TSC2):c.1932C>A (p.Cys644Ter)	TSC2 (C444* +10 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2810243	NM_000548.5(TSC2):c.1149del (p.Ile383fs)	TSC2 (I364fs +8 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2802312	NM_000548.5(TSC2):c.1869del (p.Asp624fs)	TSC2 (D176fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2780314	NM_000548.5(TSC2):c.2545+1G>A	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 2780313	NM_000548.5(TSC2):c.1990del (p.Ser664fs)	TSC2 (S130fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2770216	NM_000548.5(TSC2):c.1563_1566del (p.His522fs)	TSC2 (H485fs +9 more)	Microsatellite (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2765855	NM_000548.5(TSC2):c.4198_4207del (p.Asp1400fs)	TSC2 (D1133fs +34 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2764913	NM_000548.5(TSC2):c.1257dup (p.Glu420Ter)	TSC2 (E220* +8 more)	Duplication (nonsense +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2764504	NM_000548.5(TSC2):c.4270dup (p.Asp1424fs)	TSC2 (D1158fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2762139	NM_000548.5(TSC2):c.548_553del (p.Leu183_Lys185delinsTer)	TSC2	Deletion (nonsense +3 more)	Tuberous sclerosis 2	GPathogenic
Select item 2762053	NM_000548.5(TSC2):c.2790_2793del (p.Asp931fs)	TSC2 (D894fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2761884	NM_000548.5(TSC2):c.4539_4540insGGGCGACGAG (p.Ser1514fs)	TSC2 (S1248fs +34 more)	Insertion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2759833	NM_000548.5(TSC2):c.4557del (p.Leu1520fs)	TSC2 (L1005fs +34 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2759564	NM_000548.5(TSC2):c.2902G>T (p.Glu968Ter)	TSC2 (E919* +4 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 2759499	NM_000548.5(TSC2):c.697del (p.Ala233fs)	TSC2 (A184fs +8 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2758102	NM_000548.5(TSC2):c.3067dup (p.Thr1023fs)	TSC2 (T1010fs +25 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2757653	NM_000548.5(TSC2):c.1399dup (p.Asp467fs)	TSC2 (D19fs +9 more)	Duplication (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2756055	NM_000548.5(TSC2):c.852del (p.Tyr285fs)	TSC2 (Y131fs +8 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2751437	NM_000548.5(TSC2):c.3883+2T>C	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2	GUncertain significance
Select item 2751255	NM_000548.5(TSC2):c.2637dup (p.Lys880fs)	TSC2 (K680fs +10 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2751084	NM_000548.5(TSC2):c.3752del (p.Lys1251fs)	TSC2 (K1218fs +25 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2749906	NM_000548.5(TSC2):c.970_973dup (p.Gln325fs)	TSC2 (Q125fs +8 more)	Duplication (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2747517	NM_000548.5(TSC2):c.4662+2T>C	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 2747097	NM_000548.5(TSC2):c.916del (p.Ala306fs)	TSC2 (A257fs +8 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2746318	NM_000548.5(TSC2):c.3955_3958dup (p.Val1320fs)	TSC2 (V1096fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2746298	NM_000548.5(TSC2):c.2436del (p.Ser812fs)	TSC2 (S278fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2743831	NM_000548.5(TSC2):c.104_108dup (p.Glu37fs)	TSC2 (E48fs +1 more)	Duplication (frameshift variant +3 more)	Tuberous sclerosis 2	GPathogenic
Select item 2742870	NM_000548.5(TSC2):c.3270del (p.Gly1091fs)	TSC2 (G1010fs +25 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2741633	NM_000548.5(TSC2):c.1599+2T>G	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 2739547	NM_000548.5(TSC2):c.3560_3567del (p.Val1187fs)	TSC2 (V1137fs +25 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2737143	NM_000548.5(TSC2):c.2015dup (p.Ala673fs)	TSC2 (A673fs +10 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2736291	NM_000548.5(TSC2):c.2690del (p.Phe897fs)	TSC2 (F697fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2736283	NM_000548.5(TSC2):c.1362-1G>A	TSC2	Single nucleotide variant (splice acceptor variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2736279	NM_000548.5(TSC2):c.644_645del (p.Ile215fs)	TSC2 (I15fs +7 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2725955	NM_000548.5(TSC2):c.1381del (p.Val461fs)	TSC2 (V457fs +9 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2725064	NM_000548.5(TSC2):c.4616C>A (p.Ser1539Ter)	TSC2 (S1025* +34 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2718772	NM_000548.5(TSC2):c.2806del (p.Arg936fs)	TSC2 (R932fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2713137	NM_000548.5(TSC2):c.4705dup (p.Tyr1569fs)	TSC2 (Y1054fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2710533	NM_000548.5(TSC2):c.2265_2268del (p.Glu755fs)	TSC2 (E221fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis syndrome +1 more	GPathogenic
Select item 2706790	NM_000548.5(TSC2):c.4593_4594delinsTT (p.Gln1532Ter)	TSC2 (Q1308* +34 more)	Indel (nonsense +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2704288	NM_000548.5(TSC2):c.2435_2545+153delinsTC	TSC2	Indel (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 2701993	NM_000548.5(TSC2):c.1789dup (p.His597fs)	TSC2 (H397fs +10 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2701409	NM_000548.5(TSC2):c.849-2A>C	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic
Select item 2699364	NM_000548.5(TSC2):c.51dup (p.Leu18fs)	TSC2 (L18fs +1 more)	Duplication (frameshift variant +3 more)	Tuberous sclerosis 2	GPathogenic
Select item 2699191	NM_000548.5(TSC2):c.4246dup (p.Ala1416fs)	TSC2 (A1216fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2698726	NM_000548.5(TSC2):c.2349del (p.Lys784fs)	TSC2 (K250fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2698197	NM_000548.5(TSC2):c.4804G>T (p.Glu1602Ter)	TSC2 (E1087* +34 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2697524	NM_000548.5(TSC2):c.2765T>A (p.Leu922Ter)	TSC2 (L873* +10 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2697481	NM_000548.5(TSC2):c.2729_2733del (p.Pro910fs)	TSC2 (P376fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2696462	NM_000548.5(TSC2):c.1912_1924del (p.Val638fs)	TSC2 (V104fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2693092	NM_000548.5(TSC2):c.5082del (p.Val1695fs)	TSC2 (V1094fs +34 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2679321	NM_000368.5(TSC1):c.496C>G (p.Leu166Val)	TSC1 (L115V +2 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2674428	NM_000548.5(TSC2):c.4569+2T>C	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 2423312	NC_000016.9:g.(?_2093558)_(2130388_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423311	NC_000016.9:g.(?_2089925)_(2115656_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423310	NC_000016.9:g.(?_2097690)_(2114448_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423309	NC_000016.9:g.(?_2034220)_(2152787_?)del	GFER, MIR1225 +7 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423307	NC_000016.9:g.(?_2131020)_(2133730_?)del	TSC2	Deletion	Tuberous sclerosis 2	GLikely pathogenic
Select item 2423306	NC_000016.9:g.(?_2129819)_(2134377_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423305	NC_000016.9:g.(?_2127829)_(2134379_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423304	NC_000016.9:g.(?_2110149)_(2112548_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423303	NC_000016.9:g.(?_2079753)_(2100460_?)del	NHERF2, NTHL1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423293	NC_000016.9:g.(?_2106177)_(2142622_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423290	NC_000016.9:g.(?_2127477)_(2135343_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423287	NC_000016.9:g.(?_2108728)_(2120599_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423286	NC_000016.9:g.(?_2089925)_(2107460_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423285	NC_000016.9:g.(?_2089925)_(2105540_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423284	NC_000016.9:g.(?_2093548)_(2113074_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423283	NC_000016.9:g.(?_2112953)_(2113074_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423282	NC_000016.9:g.(?_2108728)_(2108894_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2196436	NM_000548.5(TSC2):c.3835dup (p.Tyr1279fs)	TSC2 (Y1236fs +3 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2153828	NM_000548.5(TSC2):c.3815-2A>G	TSC2	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2152254	NM_000548.5(TSC2):c.4938_4939del (p.Ser1647fs)	TSC2 (S1403fs +9 more)	Microsatellite (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 2137758	NM_000548.5(TSC2):c.770G>A (p.Trp257Ter)	TSC2 (W103* +8 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 2134856	NM_000548.5(TSC2):c.3622dup (p.Trp1208fs)	TSC2 (W1175fs +6 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 2130841	NM_000548.5(TSC2):c.599+2T>A	TSC2	Single nucleotide variant (splice donor variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2130573	NM_000548.5(TSC2):c.1600-1G>C	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic
Select item 2127845	NM_000548.5(TSC2):c.2746del (p.Leu916fs)	TSC2 (L716fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 2124298	NM_000548.5(TSC2):c.4404_4407dup (p.Arg1470fs)	TSC2 (R1226fs +9 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 2121635	NM_000548.5(TSC2):c.1443+1G>A	TSC2	Single nucleotide variant (splice donor variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2120984	NM_000548.5(TSC2):c.3455del (p.Ser1152fs)	TSC2 (S1108fs +6 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic

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