ClinVar for Gene (Select 7248) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253335	NM_000368.5(TSC1):c.2625+419G>T	TSC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	GTF3C5, HMCN2 +147 more	Duplication	not provided	GUncertain significance
Select item 3245197	NC_000009.11:g.(?_135778117)_(135779381_?)del	TSC1	Deletion	Tuberous sclerosis 1	GLikely pathogenic
Select item 3245196	NC_000009.11:g.(?_135771622)_(135781536_?)dup	TSC1	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 3245195	NC_000009.11:g.(?_135798715)_(135820530_?)dup	TSC1	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 3245194	NC_000009.11:g.(?_135802568)_(135820530_?)dup	TSC1	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 3245193	NC_000009.11:g.(?_135804134)_(135804339_?)dup	TSC1	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 3245189	NC_000009.11:g.(?_135771622)_(135801146_?)del	TSC1	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 3245188	NC_000009.11:g.(?_135800954)_(135802711_?)del	TSC1	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 3245187	NC_000009.11:g.(?_135771622)_(135810482_?)del	TSC1	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 3245186	NC_000009.11:g.(?_135775735)_(135778194_?)del	TSC1	Deletion	Tuberous sclerosis 1	GUncertain significance
Select item 3245185	NC_000009.11:g.(?_135771622)_(135779224_?)del	TSC1	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 3245184	NC_000009.11:g.(?_135774789)_(135782763_?)del	TSC1	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 3245183	NC_000009.11:g.(?_135777972)_(135786520_?)del	TSC1	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 3245182	NC_000009.11:g.(?_135796730)_(135820530_?)del	TSC1	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 3245181	NC_000009.11:g.(?_135787659)_(135787854_?)del	TSC1	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 3245180	NC_000009.11:g.(?_135810420)_(135810482_?)del	TSC1	Deletion	Tuberous sclerosis 1	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	AK8, ASB6 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3242072	NM_000368.5(TSC1):c.1586C>G (p.Ala529Gly)	TSC1 (A178G +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	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 3239456	NM_000368.5(TSC1):c.1029+55C>T	TSC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3238633	NM_000368.5(TSC1):c.3016G>A (p.Gly1006Arg)	TSC1 (G1000R +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3236700	NM_000368.5(TSC1):c.244A>T (p.Lys82Ter)	TSC1 (K82*)	Single nucleotide variant (nonsense +3 more)	Tuberous sclerosis syndrome	GPathogenic
Select item 3234028	NM_000368.5(TSC1):c.1308_1310del (p.His437del)	TSC1 (H119del +8 more)	Deletion (inframe_deletion +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3233707	NM_000368.5(TSC1):c.515dup (p.Ala173fs)	TSC1 (A122fs +2 more)	Duplication (frameshift variant +2 more)	Tuberous sclerosis syndrome	GPathogenic
Select item 3231340	NM_000368.5(TSC1):c.999A>T (p.Pro333=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231339	NM_000368.5(TSC1):c.962del (p.Asn321fs)	TSC1 (N200fs +3 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231338	NM_000368.5(TSC1):c.950T>C (p.Leu317Pro)	TSC1 (L196P +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231337	NM_000368.5(TSC1):c.944C>A (p.Ser315Tyr)	TSC1 (S194Y +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231336	NM_000368.5(TSC1):c.921T>A (p.Ala307=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231335	NM_000368.5(TSC1):c.848C>A (p.Ala283Asp)	TSC1 (A162D +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231334	NM_000368.5(TSC1):c.824A>T (p.Tyr275Phe)	TSC1 (Y154F +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231333	NM_000368.5(TSC1):c.817G>A (p.Asp273Asn)	TSC1 (D152N +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231332	NM_000368.5(TSC1):c.804del (p.Ala269fs)	TSC1 (A148fs +2 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231331	NM_000368.5(TSC1):c.803A>G (p.Glu268Gly)	TSC1 (E147G +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231330	NM_000368.5(TSC1):c.743A>G (p.Lys248Arg)	TSC1 (K127R +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231328	NM_000368.5(TSC1):c.719A>G (p.His240Arg)	TSC1 (H119R +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231327	NM_000368.5(TSC1):c.715G>A (p.Asp239Asn)	TSC1 (D118N +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231325	NM_000368.5(TSC1):c.543T>C (p.His181=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231323	NM_000368.5(TSC1):c.400T>G (p.Leu134Val)	TSC1 (L134V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231321	NM_000368.5(TSC1):c.384C>G (p.Val128=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231320	NM_000368.5(TSC1):c.3401A>G (p.Asn1134Ser)	TSC1 (N1012S +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231319	NM_000368.5(TSC1):c.3322_3324delinsTGT (p.Gly1108Cys)	TSC1 (G1042C +15 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231318	NM_000368.5(TSC1):c.3229A>T (p.Thr1077Ser)	TSC1 (T1011S +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231317	NM_000368.5(TSC1):c.3203G>A (p.Gly1068Glu)	TSC1 (G1002E +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231316	NM_000368.5(TSC1):c.3182G>A (p.Ser1061Asn)	TSC1 (S1009N +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231315	NM_000368.5(TSC1):c.3150A>C (p.Lys1050Asn)	TSC1 (K1035N +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231314	NM_000368.5(TSC1):c.299A>G (p.Gln100Arg)	TSC1 (Q100R)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231313	NM_000368.5(TSC1):c.2958_2966del (p.985AAE[1])	TSC1	Deletion (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231312	NM_000368.5(TSC1):c.2957C>T (p.Ala986Val)	TSC1 (A635V +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231311	NM_000368.5(TSC1):c.2912A>C (p.Lys971Thr)	TSC1 (K620T +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231310	NM_000368.5(TSC1):c.2911A>G (p.Lys971Glu)	TSC1 (K620E +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231309	NM_000368.5(TSC1):c.2883G>A (p.Glu961=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231308	NM_000368.5(TSC1):c.2830G>C (p.Ala944Pro)	TSC1 (A593P +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231307	NM_000368.5(TSC1):c.277C>G (p.Leu93Val)	TSC1 (L93V)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231306	NM_000368.5(TSC1):c.2746C>G (p.Leu916Val)	TSC1 (L565V +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231305	NM_000368.5(TSC1):c.2733A>T (p.Glu911Asp)	TSC1 (E560D +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231304	NM_000368.5(TSC1):c.2598G>A (p.Leu866=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231303	NM_000368.5(TSC1):c.2544G>A (p.Leu848=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231302	NM_000368.5(TSC1):c.2391+4T>C	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231301	NM_000368.5(TSC1):c.2317A>T (p.Thr773Ser)	TSC1 (T422S +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231300	NM_000368.5(TSC1):c.2316A>G (p.Val772=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231299	NM_000368.5(TSC1):c.2309C>G (p.Thr770Ser)	TSC1 (T419S +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231297	NM_000368.5(TSC1):c.2236G>A (p.Asp746Asn)	TSC1 (D395N +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231295	NM_000368.5(TSC1):c.2197A>G (p.Asn733Asp)	TSC1 (N382D +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231294	NM_000368.5(TSC1):c.2193A>C (p.Glu731Asp)	TSC1 (E380D +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231293	NM_000368.5(TSC1):c.2168T>G (p.Val723Gly)	TSC1 (V372G +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231292	NM_000368.5(TSC1):c.2167G>C (p.Val723Leu)	TSC1 (V722L +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231291	NM_000368.5(TSC1):c.2157C>G (p.Leu719=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231290	NM_000368.5(TSC1):c.2133G>T (p.Gln711His)	TSC1 (Q360H +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231289	NM_000368.5(TSC1):c.202C>T (p.His68Tyr)	TSC1 (H68Y)	Single nucleotide variant (intron variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231288	NM_000368.5(TSC1):c.2013C>T (p.Ser671=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231287	NM_000368.5(TSC1):c.198G>A (p.Glu66=)	TSC1	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231286	NM_000368.5(TSC1):c.1929C>T (p.Thr643=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231285	NM_000368.5(TSC1):c.1917T>C (p.Gly639=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231284	NM_000368.5(TSC1):c.1832C>T (p.Ala611Val)	TSC1 (A260V +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231283	NM_000368.5(TSC1):c.1827G>A (p.Glu609=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231281	NM_000368.5(TSC1):c.1801C>T (p.Pro601Ser)	TSC1 (P250S +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231280	NM_000368.5(TSC1):c.1793G>A (p.Ser598Asn)	TSC1 (S247N +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231279	NM_000368.5(TSC1):c.1727T>G (p.Leu576Trp)	TSC1 (L225W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231278	NM_000368.5(TSC1):c.1706A>C (p.Asp569Ala)	TSC1 (D218A +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231277	NM_000368.5(TSC1):c.1650A>T (p.Gln550His)	TSC1 (Q199H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231275	NM_000368.5(TSC1):c.1609C>T (p.His537Tyr)	TSC1 (H186Y +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231274	NM_000368.5(TSC1):c.159C>A (p.Ser53Arg)	TSC1 (S53R)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231273	NM_000368.5(TSC1):c.1506C>G (p.Gly502=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231272	NM_000368.5(TSC1):c.1381G>C (p.Gly461Arg)	TSC1 (G110R +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231271	NM_000368.5(TSC1):c.1379C>T (p.Pro460Leu)	TSC1 (P109L +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231269	NM_000368.5(TSC1):c.1203T>C (p.Cys401=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231268	NM_000368.5(TSC1):c.1178C>G (p.Thr393Ser)	TSC1 (T271S +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231267	NM_000368.5(TSC1):c.1087G>A (p.Gly363Arg)	TSC1 (G13R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3183558	NM_000368.5(TSC1):c.3201G>C (p.Met1067Ile)	TSC1 (M1001I +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3148714	NM_000368.5(TSC1):c.2392-2A>G	TSC1	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 1	GLikely pathogenic

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