"GeneDx"[submitter] AND "TSC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365499	NM_000368.5(TSC1):c.*376C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +2 more	GBenign
Select item 365504	NM_000368.5(TSC1):c.*289del	TSC1	Deletion (3 prime UTR variant)	Isolated focal cortical dysplasia type II +2 more	GBenign
Select item 391968	NM_000368.5(TSC1):c.*14A>T	TSC1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1312577	NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr)	TSC1 (H1042Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 207622	NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)	TSC1 (N1157D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 534460	NM_000368.5(TSC1):c.3455A>G (p.His1152Arg)	TSC1 (H1152R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 64745	NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)	TSC1 (D1146Y +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 184529	NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +5 more	GBenign/Likely benign
Select item 41698	NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)	TSC1 (P1143L +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 384615	NM_000368.5(TSC1):c.3420G>A (p.Pro1140=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +3 more	GBenign/Likely benign
Select item 411228	NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)	TSC1 (P1140L +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 823748	NM_000368.5(TSC1):c.3417C>A (p.His1139Gln)	TSC1 (H1018Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 486587	NM_000368.5(TSC1):c.3413C>A (p.Pro1138His)	TSC1 (P1138H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1427454	NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser)	TSC1 (P1137S +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GUncertain significance
Select item 378769	NM_000368.5(TSC1):c.3405A>G (p.Leu1135=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 1313914	NM_000368.5(TSC1):c.3403C>G (p.Leu1135Val)	TSC1 (L1014V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515926	NM_000368.5(TSC1):c.3397C>T (p.Leu1133=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 654828	NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg)	TSC1 (K1079R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 64816	NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 466135	NM_000368.5(TSC1):c.3381G>A (p.Val1127=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 2662711	NM_000368.5(TSC1):c.3375G>C (p.Leu1125Phe)	TSC1 (L1003F +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 466134	NM_000368.5(TSC1):c.3373T>C (p.Leu1125=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +3 more	GBenign/Likely benign
Select item 466133	NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)	TSC1 (T1119I +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 466132	NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro)	TSC1 (L1117P +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 382885	NM_000368.5(TSC1):c.3336C>T (p.Ser1112=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +2 more	GLikely benign
Select item 49024	NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +5 more	GBenign/Likely benign
Select item 49023	NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)	TSC1 (G1108S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 49022	NM_000368.5(TSC1):c.3321C>T (p.Asp1107=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +3 more	GBenign/Likely benign
Select item 207648	NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe)	TSC1 (C1104F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 662169	NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)	TSC1 (S1051N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 49021	NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 411207	NM_000368.5(TSC1):c.3300C>T (p.Ser1100=)	TSC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 233013	NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg)	TSC1 (K1099R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 466129	NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser)	TSC1 (N1098S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 49020	NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)	TSC1 (R1097H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 207644	NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys)	TSC1 (R1097C +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 49019	NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
Select item 195727	NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)	TSC1 (R1093Q +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 946182	NM_000368.5(TSC1):c.3268A>G (p.Met1090Val)	TSC1 (M1089V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1397179	NM_000368.5(TSC1):c.3260T>A (p.Phe1087Tyr)	TSC1 (F1086Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 207643	NM_000368.5(TSC1):c.3250T>C (p.Ser1084Pro)	TSC1 (S1084P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 675610	NM_000368.5(TSC1):c.3249T>C (p.Ser1083=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 515676	NM_000368.5(TSC1):c.3240A>G (p.Ser1080=)	TSC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 184208	NM_000368.5(TSC1):c.3210G>A (p.Ala1070=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 411222	NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)	TSC1 (A1070V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 856614	NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr)	TSC1 (M1066T +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 49016	NM_000368.5(TSC1):c.3195G>A (p.Thr1065=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +3 more	GBenign/Likely benign
Select item 207642	NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met)	TSC1 (T1065M +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 49015	NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)	TSC1 (R1062W +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 466122	NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)	TSC1 (P1058T +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 135368	NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)	TSC1 (T1047I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 565417	NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)	TSC1 (L1045V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 207621	NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe)	TSC1 (L1045F +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 643562	NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer)	TSC1	Insertion (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 207641	NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)	TSC1 (E1044K +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 49014	NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup)	TSC1	Microsatellite (inframe_insertion)	Tuberous sclerosis 1 +2 more	GLikely benign
Select item 41697	NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)	TSC1	Microsatellite (inframe_insertion)	not provided +3 more	GBenign/Likely benign
Select item 379664	NM_000368.5(TSC1):c.3129C>T (p.Ser1043=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 237716	NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)	TSC1 (S1042N +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 207640	NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)	TSC1 (S1042I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 207620	NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)	TSC1 (S1041R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 862739	NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg)	TSC1 (S918R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41696	NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)	TSC1 (G1035S +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +4 more	GConflicting classifications of pathogenicity
Select item 207639	NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)	TSC1 (S1029I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 207619	NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn)	TSC1 (S1029N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 207638	NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)	TSC1 (R1027Q +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 379061	NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)	TSC1 (A1026T +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1304605	NM_000368.5(TSC1):c.3063del (p.Arg1022fs)	TSC1 (R1021fs +3 more)	Deletion (frameshift variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 1195253	NM_000368.5(TSC1):c.3063C>T (p.Pro1021=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 466115	NM_000368.5(TSC1):c.3060C>T (p.Thr1020=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1464312	NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys)	TSC1 (N1014K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 378768	NM_000368.5(TSC1):c.3045C>T (p.Asn1015=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 2579930	NM_000368.5(TSC1):c.3035C>G (p.Ser1012Cys)	TSC1 (S1006C +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 186511	NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)	TSC1 (N1008K +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 662110	NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg)	TSC1 (G955R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 486596	NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile)	TSC1 (M1004I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 486574	NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr)	TSC1 (M1004T +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 571737	NM_000368.5(TSC1):c.3010A>G (p.Met1004Val)	TSC1 (M1004V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 237715	NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)	TSC1 (D1002V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1313194	NM_000368.5(TSC1):c.2996G>T (p.Gly999Val)	TSC1 (G878V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 207637	NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg)	TSC1 (G999R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1024630	NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr)	TSC1 (C874Y +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 822409	NM_000368.5(TSC1):c.2976-2A>G	TSC1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GUncertain significance
Select item 49009	NM_000368.5(TSC1):c.2976-43G>C	TSC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677256	NM_000368.5(TSC1):c.2975+127G>T	TSC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293790	NM_000368.5(TSC1):c.2975+101A>G	TSC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383683	NM_000368.5(TSC1):c.2975+4G>C	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2428914	NM_000368.5(TSC1):c.2975+1G>A	TSC1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2497823	NM_000368.5(TSC1):c.2972_2975del (p.Glu991fs)	TSC1 (E640fs +15 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 237714	NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)	TSC1 (E990K +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 466106	NM_000368.5(TSC1):c.2966C>T (p.Ala989Val)	TSC1 (A989V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 365510	NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)	TSC1 (A989S +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 379060	NM_000368.5(TSC1):c.2964A>G (p.Ala988=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 411258	NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1])	TSC1	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1405411	NM_000368.5(TSC1):c.2948C>G (p.Ala983Gly)	TSC1 (A982G +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 379146	NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg)	TSC1 (K982R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 64810	NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)	TSC1 (L978V +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 466105	NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg)	TSC1 (K977R +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 207617	NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)	TSC1 (K976E +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 508501	NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)	TSC1 (L975Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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