ClinVar for MedGen (Select 348170) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379166	NM_000548.5(TSC2):c.4906_4908delinsAAT (p.Asp1636Asn)	TSC2 (D1035N +34 more)	Indel (missense variant +1 more)	Tuberous sclerosis 2	GLikely benign
Select item 3376539	NM_000548.5(TSC2):c.3161dup (p.Gly1055fs)	TSC2 (G1005fs +25 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3370394	NM_000548.5(TSC2):c.1019_1022dup (p.Ile342fs)	TSC2 (I142fs +8 more)	Duplication (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 3370313	NM_000548.5(TSC2):c.1807_1808del (p.Thr603fs)	TSC2 (T155fs +10 more)	Microsatellite (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 3362709	NM_000548.5(TSC2):c.1460C>G (p.Ser487Ter)	TSC2 (S287* +9 more)	Single nucleotide variant (nonsense +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 3252035	NM_000548.5(TSC2):c.1912_1920del (p.Val638_Phe640del)	TSC2	Deletion (inframe_deletion +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3251981	NM_000548.5(TSC2):c.3833dup (p.Tyr1279fs)	TSC2 (Y1035fs +7 more)	Duplication (frameshift variant +2 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3248567	NM_000548.5(TSC2):c.2821_2825delinsCGG (p.Asn941fs)	TSC2 (N407fs +10 more)	Indel (frameshift variant +1 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3243484	NC_000016.9:g.(?_2106736)_(2190778_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243483	NC_000016.9:g.(?_2131776)_(2135204_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243481	NC_000016.9:g.(?_2129280)_(2130292_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243480	NC_000016.9:g.(?_2127826)_(2138544_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243479	NC_000016.9:g.(?_2125611)_(2126561_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243478	NC_000016.9:g.(?_2121059)_(2130344_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243477	NC_000016.9:g.(?_2110667)_(2138301_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243476	NC_000016.9:g.(?_2110464)_(2111943_?)del	TSC2	Deletion	Tuberous sclerosis 2	GLikely pathogenic
Select item 3243475	NC_000016.9:g.(?_2138557)_(2150745_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243474	NC_000016.9:g.(?_2136857)_(2137049_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243473	NC_000016.9:g.(?_2131626)_(2131827_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243472	NC_000016.9:g.(?_2103333)_(2108884_?)dup	TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243470	NC_000016.9:g.(?_2131576)_(2138611_?)dup	TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243469	NC_000016.9:g.(?_2100391)_(2143097_?)dup	MIR1225, PKD1 +1 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243468	NC_000016.9:g.(?_2125780)_(2138611_?)dup	TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243467	NC_000016.9:g.(?_2112488)_(2143097_?)dup	MIR1225, PKD1 +1 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243465	NC_000016.9:g.(?_2089925)_(2129680_?)dup	NTHL1, TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243464	NC_000016.9:g.(?_2089925)_(2121627_?)dup	NTHL1, TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243463	NC_000016.9:g.(?_2089925)_(2110834_?)dup	NTHL1, TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243462	NC_000016.9:g.(?_2138427)_(2138611_?)dup	TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243461	NC_000016.9:g.(?_2100391)_(2100497_?)dup	TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243459	NC_000016.9:g.(?_2089925)_(2138611_?)dup	NTHL1, TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243458	NC_000016.9:g.(?_2104449)_(2286921_?)del	BRICD5, CASKIN1 +9 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243457	NC_000016.9:g.(?_2105393)_(2114438_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243456	NC_000016.9:g.(?_2103323)_(2138611_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243455	NC_000016.9:g.(?_2103323)_(2130398_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243454	NC_000016.9:g.(?_2137854)_(2143097_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243453	NC_000016.9:g.(?_2098611)_(2115642_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243452	NC_000016.9:g.(?_2115500)_(2138611_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243451	NC_000016.9:g.(?_2115500)_(2124410_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243450	NC_000016.9:g.(?_2113445)_(2173972_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243448	NC_000016.9:g.(?_2111852)_(2133837_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243447	NC_000016.9:g.(?_2110656)_(2115646_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243446	NC_000016.9:g.(?_2089925)_(2100497_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243445	NC_000016.9:g.(?_2097990)_(2127747_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243444	NC_000016.9:g.(?_2089925)_(2124410_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243443	NC_000016.9:g.(?_2089925)_(2098764_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243442	NC_000016.9:g.(?_2096119)_(2115646_?)del	NTHL1, TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3237378	NM_000548.5(TSC2):c.4005+5G>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GUncertain significance
Select item 3237181	NM_000548.5(TSC2):c.5095del (p.Val1699fs)	TSC2 (V1476fs +34 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3236171	NM_000548.5(TSC2):c.3677dup (p.Met1226fs)	TSC2 (M1025fs +25 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 3220903	NM_000548.5(TSC2):c.648+1G>C	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 3070887	NM_000548.5(TSC2):c.2287C>G (p.His763Asp)	TSC2 (H229D +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +1 more	GUncertain significance
Select item 3066219	NM_000548.5(TSC2):c.1400dup (p.Asp467fs)	TSC2 (D19fs +9 more)	Duplication (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 3066179	NM_000548.5(TSC2):c.1073G>T (p.Trp358Leu)	TSC2 (W158L +8 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3065756	NM_000548.5(TSC2):c.5024dup (p.Leu1676fs)	TSC2 (L1075fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3065511	NM_000548.5(TSC2):c.1923C>A (p.Ser641Arg)	TSC2 (S107R +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3065267	NM_000548.5(TSC2):c.1221C>G (p.Tyr407Ter)	TSC2 (Y207* +8 more)	Single nucleotide variant (nonsense +2 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3064751	NM_000548.5(TSC2):c.2551G>A (p.Ala851Thr)	TSC2 (A317T +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3064495	NM_000548.5(TSC2):c.3806C>G (p.Ser1269Cys)	TSC2 (S1025C +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3062307	NM_000548.5(TSC2):c.875_876insTCGCGCCCCTGCT (p.Gly294fs)	TSC2 (G140fs +8 more)	Microsatellite (frameshift variant +2 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3062291	NM_000548.5(TSC2):c.2724dup (p.Val909fs)	TSC2 (V375fs +10 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3062246	NM_000548.5(TSC2):c.1090_1099del (p.Ile364fs)	TSC2 (I164fs +8 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3061853	NM_000548.5(TSC2):c.269_277del (p.Gln90_Glu92del)	TSC2	Deletion (inframe_deletion +3 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3022288	NM_000548.5(TSC2):c.3443A>T (p.Gln1148Leu)	TSC2 (Q1068L +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3022186	NM_000548.5(TSC2):c.139-11TC[3]	TSC2	Microsatellite (intron variant)	Tuberous sclerosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 3021626	NM_000548.5(TSC2):c.4802G>C (p.Gly1601Ala)	TSC2 (G1335A +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3020528	NM_000548.5(TSC2):c.2780C>G (p.Thr927Ser)	TSC2 (T773S +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3020440	NM_000548.5(TSC2):c.2838-7C>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 3019953	NM_000548.5(TSC2):c.848+14G>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 3019434	NM_000548.5(TSC2):c.876G>T (p.Leu292=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2	GLikely benign
Select item 3019217	NM_000548.5(TSC2):c.2640-20_2640-19insT	TSC2	Insertion (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 3017902	NM_000548.5(TSC2):c.975+3A>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GUncertain significance
Select item 3016096	NM_000548.5(TSC2):c.648+20A>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 3014575	NM_000548.5(TSC2):c.1717-10C>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 3013557	NM_000548.5(TSC2):c.3485C>G (p.Pro1162Arg)	TSC2 (P1069R +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3013131	NM_000548.5(TSC2):c.1392G>A (p.Lys464=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2	GLikely benign
Select item 3012408	NM_000548.5(TSC2):c.1362-17A>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 3011591	NM_000548.5(TSC2):c.3972A>G (p.Leu1324=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2	GLikely benign
Select item 3010840	NM_000548.5(TSC2):c.3397+17G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 3010577	NM_000548.5(TSC2):c.2837+5G>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GUncertain significance
Select item 3010117	NM_000548.5(TSC2):c.3202A>G (p.Thr1068Ala)	TSC2 (T1005A +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3009628	NM_000548.5(TSC2):c.2546-13T>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GUncertain significance
Select item 3009625	NM_000548.5(TSC2):c.1506C>T (p.His502=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2	GLikely benign
Select item 3009594	NM_000548.5(TSC2):c.576C>G (p.Asp192Glu)	TSC2 (D143E +6 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3009147	NM_000548.5(TSC2):c.3420C>G (p.Gly1140=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2	GLikely benign
Select item 3006820	NM_000548.5(TSC2):c.1461A>T (p.Ser487=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2	GLikely benign
Select item 3006801	NM_000548.5(TSC2):c.4260A>C (p.Ser1420=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2	GLikely benign
Select item 3004908	NM_000548.5(TSC2):c.3604C>T (p.Pro1202Ser)	TSC2 (P1005S +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3004892	NM_000548.5(TSC2):c.4818C>T (p.Phe1606=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +1 more	GLikely benign
Select item 3004157	NM_000548.5(TSC2):c.3912T>G (p.Ser1304Arg)	TSC2 (S1038R +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3003376	NM_000548.5(TSC2):c.774+12G>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 3003337	NM_000548.5(TSC2):c.1545G>A (p.Leu515=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2	GLikely benign
Select item 3002112	NM_000548.5(TSC2):c.2983C>T (p.Leu995Phe)	TSC2 (L417F +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3002068	NM_000548.5(TSC2):c.1489C>A (p.Pro497Thr)	TSC2 (P297T +9 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GUncertain significance
Select item 3000722	NM_000548.5(TSC2):c.1840-12T>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 3000408	NM_000548.5(TSC2):c.3474A>G (p.Pro1158=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 3000186	NM_000548.5(TSC2):c.4267C>G (p.Leu1423Val)	TSC2 (L1157V +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 2997975	NM_000548.5(TSC2):c.2040G>A (p.Arg680=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2	GLikely benign
Select item 2997322	NM_000548.5(TSC2):c.4900C>G (p.Arg1634Gly)	TSC2 (R1142G +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 2996725	NM_000548.5(TSC2):c.4688C>T (p.Ser1563Phe)	TSC2 (S1296F +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance

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