"Genome-Nilou Lab"[submitter] AND "TSC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 486572	NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp)	TSC1 (E1162D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 466138	NM_000368.5(TSC1):c.3453A>G (p.Leu1151=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +1 more	GLikely benign
Select item 620628	NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)	TSC1 (S1147G +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +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 534453	NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu)	TSC1 (P1145L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 639310	NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala)	TSC1 (P1024A +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 534517	NM_000368.5(TSC1):c.3429G>A (p.Pro1143=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +3 more	GBenign/Likely benign
Select item 486578	NM_000368.5(TSC1):c.3429G>C (p.Pro1143=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 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 411284	NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala)	TSC1 (P1142A +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 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 237719	NM_000368.5(TSC1):c.3416A>C (p.His1139Pro)	TSC1 (H1139P +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 416647	NM_000368.5(TSC1):c.3414T>C (p.Pro1138=)	TSC1	Single nucleotide variant (synonymous variant)	Lymphangiomyomatosis +3 more	GBenign/Likely benign
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 184790	NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)	TSC1 (D1136E +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
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 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 416648	NM_000368.5(TSC1):c.3396C>T (p.Pro1132=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +2 more	GBenign/Likely benign
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 486570	NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val)	TSC1 (A1129V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GBenign/Likely benign
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 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 571549	NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser)	TSC1 (G1122S +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 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 951103	NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile)	TSC1 (M988I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GConflicting classifications of pathogenicity
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 466131	NM_000368.5(TSC1):c.3305G>C (p.Ser1102Thr)	TSC1 (S1102T +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GLikely benign
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 640411	NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)	TSC1 (A1092S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 466128	NM_000368.5(TSC1):c.3266G>C (p.Gly1089Ala)	TSC1 (G1089A +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GBenign/Likely benign
Select item 486575	NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu)	TSC1 (K1085E +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
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 411204	NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala)	TSC1 (P1082A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 466126	NM_000368.5(TSC1):c.3237C>T (p.Gly1079=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +3 more	GBenign/Likely benign
Select item 466125	NM_000368.5(TSC1):c.3228C>T (p.Thr1076=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely 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 237717	NM_000368.5(TSC1):c.3207A>G (p.Glu1069=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 466124	NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg)	TSC1 (M1067R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +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 466123	NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln)	TSC1 (R1062Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 411214	NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu)	TSC1 (F1059L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 810455	NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val)	TSC1 (G1056V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GUncertain significance
Select item 428191	NM_000368.5(TSC1):c.3159C>T (p.His1053=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +1 more	GBenign/Likely benign
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 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 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 486566	NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly)	TSC1 (S1039G +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 486567	NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly)	TSC1 (S1038G +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 486561	NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu)	TSC1 (G1036E +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +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 466118	NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp)	TSC1 (R1027W +3 more)	Single nucleotide variant (missense variant)	not specified +2 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 466117	NM_000368.5(TSC1):c.3075C>T (p.Ser1025=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely 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 411259	NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile)	TSC1 (T1020I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 207618	NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu)	TSC1 (A1011E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
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 466111	NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)	TSC1 (N1008S +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 411246	NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)	TSC1 (H1007Y +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +3 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 822591	NM_000368.5(TSC1):c.3013G>A (p.Val1005Ile)	TSC1 (V884I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GUncertain significance
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 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 699743	NM_000368.5(TSC1):c.2994C>T (p.Asp998=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 466108	NM_000368.5(TSC1):c.2982C>T (p.Asp994=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +1 more	GBenign/Likely benign

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