Related gene-specific medical variations for Gene (Select 7248) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3065946	NM_000368.5(TSC1):c.2787T>A (p.Tyr929Ter)	TSC1 (Y578* +15 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3062292	NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs)	TSC1 (E406fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 1	GLikely pathogenic
Select item 3062105	NM_000368.5(TSC1):c.182del (p.Leu61fs)	TSC1 (L61fs)	Deletion (frameshift variant +3 more)	Tuberous sclerosis 1	GPathogenic
Select item 2684163	Single allele	TSC1	Deletion	not provided	GPathogenic
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 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 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 2576059	NM_000368.5(TSC1):c.738-1252G>A	TSC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2507395	NM_000368.5(TSC1):c.2127del (p.Arg709fs)	TSC1 (R358fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 1	GPathogenic
Select item 2446045	NM_000368.5(TSC1):c.2271del (p.Glu757fs)	TSC1 (E406fs +10 more)	Deletion (frameshift variant +1 more)	Autosomal dominant epilepsy	GLikely pathogenic
Select item 2445416	NM_000368.5(TSC1):c.3427C>G (p.Pro1143Ala)	TSC1 (P1007A +15 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2434267	NM_000368.5(TSC1):c.2392-74_2392-1del	TSC1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2430291	NM_000368.5(TSC1):c.622A>G (p.Ser208Gly)	TSC1 (S157G +2 more)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 1809592	NM_000368.5(TSC1):c.73_85dup (p.Phe29fs)	TSC1 (F29fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1701933	NM_000368.5(TSC1):c.2025C>A (p.Asp675Glu)	TSC1 (D554E +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1	GUncertain significance
Select item 1676312	NM_000368.5(TSC1):c.1929del (p.Ser644fs)	TSC1 (S523fs +3 more)	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 1256473	NM_000368.5(TSC1):c.1569_1570delinsGTGAA (p.Ser524Ter)	TSC1 (S403* +3 more)	Indel (nonsense)	not provided	GLikely pathogenic
Select item 931763	NM_000368.5(TSC1):c.1868_1877del (p.Lys623fs)	TSC1 (K502fs +3 more)	Deletion (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 931562	NM_000368.5(TSC1):c.2321_2330del (p.Lys774fs)	TSC1 (K653fs +3 more)	Deletion (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 625198	t(8;9)(q24.22;q34.13)	TMEM71, TSC1	Translocation	Neoplasm of the pancreas	GPathogenic
Select item 253482	GRCh37/hg19 9q34.13(chr9:135771359-135821093)x1	TSC1	Copy number loss	See cases	GPathogenic
Select item 135367	NM_000368.5(TSC1):c.3168_3171delinsGGTG (p.Gly1057Val)	TSC1 (G1006V +3 more)	Indel (missense variant)	not specified	Gnot provided
Select item 133421	NM_000368.5(TSC1):c.1029+34C>G	TSC1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 64767	NM_000368.4(TSC1):c.2626_3495del	TSC1	Deletion	Tuberous sclerosis syndrome	Gnot provided
Select item 64756	NM_000368.4(TSC1):c.2626_2975del	TSC1	Deletion	Tuberous sclerosis syndrome	Gnot provided
Select item 64698	NM_000368.5(TSC1):c.2626-4T[17_21]	TSC1	Microsatellite	Malignant tumor of urinary bladder +1 more	Gnot provided

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Links from Gene

Items: 67