ClinVar for Gene (Select 7248) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365556	NM_000368.5(TSC1):c.1580A>C (p.Gln527Pro)	TSC1 (Q176P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364078	NM_000368.5(TSC1):c.1667A>G (p.Asp556Gly)	TSC1 (D205G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360209	NM_000368.5(TSC1):c.807C>A (p.Ala269=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 3356370	NM_000368.4(TSC1):c.-221T>C	TSC1	Single nucleotide variant (genic upstream transcript variant)	TSC1-related disorder	GLikely benign
Select item 3347724	NM_000368.5(TSC1):c.1600G>T (p.Glu534Ter)	TSC1 (E183* +8 more)	Single nucleotide variant (nonsense +1 more)	TSC1-related disorder	GLikely pathogenic
Select item 3347195	NM_000368.5(TSC1):c.1485G>C (p.Glu495Asp)	TSC1 (E144D +8 more)	Single nucleotide variant (missense variant +1 more)	TSC1-related disorder	GUncertain significance
Select item 3346103	NM_000368.5(TSC1):c.2071_2074delinsAGAT (p.Leu691_Arg692delinsArgTer)	TSC1	Indel (nonsense +1 more)	TSC1-related disorder	GLikely pathogenic
Select item 3341409	NM_000368.5(TSC1):c.1831del (p.Ala611fs)	TSC1 (A260fs +8 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 1	GLikely pathogenic
Select item 3340985	NM_000368.5(TSC1):c.1321G>A (p.Asp441Asn)	TSC1 (D123N +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340381	NM_000368.5(TSC1):c.-143-260del	TSC1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3329457	NM_000368.5(TSC1):c.393A>T (p.Thr131=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329456	NM_000368.5(TSC1):c.1622A>G (p.Asp541Gly)	TSC1 (D223G +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329455	NM_000368.5(TSC1):c.1857T>C (p.Phe619=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329454	NM_000368.5(TSC1):c.1465A>G (p.Ile489Val)	TSC1 (I172V +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329453	NM_000368.5(TSC1):c.364A>T (p.Met122Leu)	TSC1 (M1L +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329452	NM_000368.5(TSC1):c.1211A>C (p.Asp404Ala)	TSC1 (D352A +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329451	NM_000368.5(TSC1):c.1659T>C (p.Thr553=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329450	NM_000368.5(TSC1):c.644C>T (p.Thr215Ile)	TSC1 (T215I +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329449	NM_000368.5(TSC1):c.2391+3A>G	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329448	NM_000368.5(TSC1):c.2195A>T (p.His732Leu)	TSC1 (H414L +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329447	NM_000368.5(TSC1):c.2041+4A>T	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329446	NM_000368.5(TSC1):c.1778G>C (p.Arg593Thr)	TSC1 (R276T +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329444	NM_000368.5(TSC1):c.338T>C (p.Leu113Ser)	TSC1 (L113S)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329443	NM_000368.5(TSC1):c.450T>G (p.His150Gln)	TSC1 (H150Q +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329442	NM_000368.5(TSC1):c.3314A>C (p.Asp1105Ala)	TSC1 (D1091A +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329441	NM_000368.5(TSC1):c.2941G>T (p.Glu981Ter)	TSC1 (E664* +15 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329440	NM_000368.5(TSC1):c.2217G>C (p.Gln739His)	TSC1 (Q618H +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329439	NM_000368.5(TSC1):c.2245A>G (p.Met749Val)	TSC1 (M432V +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329438	NM_000368.5(TSC1):c.923C>T (p.Thr308Ile)	TSC1 (T187I +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329437	NM_000368.5(TSC1):c.669G>A (p.Met223Ile)	TSC1 (M172I +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329436	NM_000368.5(TSC1):c.1016C>G (p.Thr339Ser)	TSC1 (T288S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329435	NM_000368.5(TSC1):c.3411C>T (p.Gly1137=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329434	NM_000368.5(TSC1):c.2012G>A (p.Ser671Asn)	TSC1 (S620N +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329433	NM_000368.5(TSC1):c.574T>A (p.Tyr192Asn)	TSC1 (Y141N +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329432	NM_000368.5(TSC1):c.425T>G (p.Met142Arg)	TSC1 (M142R +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329431	NM_000368.5(TSC1):c.467A>T (p.Asp156Val)	TSC1 (D35V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329430	NM_000368.5(TSC1):c.2139C>T (p.Ala713=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329429	NM_000368.5(TSC1):c.2550G>A (p.Arg850=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329428	NM_000368.5(TSC1):c.1555A>T (p.Thr519Ser)	TSC1 (T202S +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329426	NM_000368.5(TSC1):c.1162C>T (p.Leu388=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329425	NM_000368.5(TSC1):c.806C>T (p.Ala269Val)	TSC1 (A148V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329424	NM_000368.5(TSC1):c.313C>G (p.His105Asp)	TSC1 (H105D)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329423	NM_000368.5(TSC1):c.2391+2T>C	TSC1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329422	NM_000368.5(TSC1):c.1991T>A (p.Leu664Gln)	TSC1 (L612Q +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329421	NM_000368.5(TSC1):c.280G>A (p.Gly94Ser)	TSC1 (G94S)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329420	NM_000368.5(TSC1):c.400T>C (p.Leu134=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329419	NM_000368.5(TSC1):c.2369del (p.Tyr790fs)	TSC1 (Y668fs +10 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3329418	NM_000368.5(TSC1):c.364-3C>T	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329416	NM_000368.5(TSC1):c.2241C>A (p.Ile747=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329415	NM_000368.5(TSC1):c.823T>A (p.Tyr275Asn)	TSC1 (Y154N +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329414	NM_000368.5(TSC1):c.3180C>T (p.Ser1060=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329413	NM_000368.5(TSC1):c.2431C>A (p.Arg811=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329412	NM_000368.5(TSC1):c.680T>C (p.Val227Ala)	TSC1 (V106A +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329410	NM_000368.5(TSC1):c.1784G>T (p.Gly595Val)	TSC1 (G244V +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329409	NM_000368.5(TSC1):c.1082C>T (p.Ser361Phe)	TSC1 (S44F +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329408	NM_000368.5(TSC1):c.2517dup (p.Ser840fs)	TSC1 (S523fs +15 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3329407	NM_000368.5(TSC1):c.2629_2634del (p.Val877_Glu878del)	TSC1	Deletion (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329406	NM_000368.5(TSC1):c.2249G>T (p.Trp750Leu)	TSC1 (W399L +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329405	NM_000368.5(TSC1):c.2763C>T (p.His921=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329404	NM_000368.5(TSC1):c.2926A>T (p.Lys976Ter)	TSC1 (K625* +15 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329402	NM_000368.5(TSC1):c.1796G>C (p.Gly599Ala)	TSC1 (G248A +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329401	NM_000368.5(TSC1):c.1516C>T (p.Pro506Ser)	TSC1 (P188S +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329400	NM_000368.5(TSC1):c.2063T>C (p.Ile688Thr)	TSC1 (I370T +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329399	NM_000368.5(TSC1):c.1264-4T>G	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329398	NM_000368.5(TSC1):c.1104T>G (p.Asp368Glu)	TSC1 (D18E +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329397	NM_000368.5(TSC1):c.2551dup (p.Gln851fs)	TSC1 (Q533fs +15 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3329396	NM_000368.5(TSC1):c.3158dup (p.His1053fs)	TSC1 (H1001fs +15 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329394	NM_000368.5(TSC1):c.3439A>C (p.Ser1147Arg)	TSC1 (S1096R +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329393	NM_000368.5(TSC1):c.211C>T (p.His71Tyr)	TSC1 (H71Y)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329391	NM_000368.5(TSC1):c.3358G>A (p.Glu1120Lys)	TSC1 (E1105K +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329389	NM_000368.5(TSC1):c.3451C>T (p.Leu1151=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329388	NM_000368.5(TSC1):c.3159C>A (p.His1053Gln)	TSC1 (H1052Q +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3329385	NM_000368.5(TSC1):c.2097C>T (p.His699=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3329383	NM_000368.5(TSC1):c.2661G>T (p.Glu887Asp)	TSC1 (E569D +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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	HMCN2, IER5L +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	BARHL1, C9orf50 +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

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