"PreventionGenetics, part of Exact Sciences"[submitter] AND "TSC1"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 411228	NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)	TSC1 (P1140L +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 49024	NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)	TSC1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 2633619	NM_000368.5(TSC1):c.3310T>C (p.Cys1104Arg)	TSC1 (C1038R +15 more)	Single nucleotide variant (missense variant +1 more)	TSC1-related disorder	GUncertain significance
Select item 2635211	NM_000368.5(TSC1):c.3266del (p.Gly1089fs)	TSC1 (G1023fs +15 more)	Deletion (frameshift variant +1 more)	TSC1-related disorder	GUncertain significance
Select item 49016	NM_000368.5(TSC1):c.3195G>A (p.Thr1065=)	TSC1	Single nucleotide variant (synonymous variant)	not specified +4 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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 207621	NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe)	TSC1 (L1045F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 +3 more	GLikely benign
Select item 64754	NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del)	TSC1 (S1043del +3 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 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)	Hereditary cancer-predisposing syndrome +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)	not provided +4 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 +3 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 466113	NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)	TSC1 (G1016D +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2631147	NM_000368.5(TSC1):c.3046G>C (p.Gly1016Arg)	TSC1 (G1001R +15 more)	Single nucleotide variant (missense variant +1 more)	TSC1-related disorder	GUncertain significance
Select item 378768	NM_000368.5(TSC1):c.3045C>T (p.Asn1015=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
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 184417	NM_000368.5(TSC1):c.2922C>T (p.Leu974=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 49008	NM_000368.5(TSC1):c.2865C>T (p.Thr955=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +6 more	GBenign/Likely benign
Select item 49006	NM_000368.5(TSC1):c.2829C>T (p.Ala943=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1796488	NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)	TSC1 (Q806* +15 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis syndrome +3 more	GPathogenic/Likely pathogenic
Select item 48985	NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)	TSC1 (A883T +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 48984	NM_000368.5(TSC1):c.2646C>T (p.Ala882=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 3057832	NM_000368.5(TSC1):c.2626-3_2626-2insTTA	TSC1	Insertion (intron variant)	TSC1-related disorder	GLikely benign
Select item 411211	NM_000368.5(TSC1):c.2626-3C>T	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3051573	NM_000368.5(TSC1):c.2626-9_2626-4del	TSC1	Deletion (intron variant)	TSC1-related disorder	GLikely benign
Select item 1692402	NM_000368.5(TSC1):c.2626-8_2626-4del	TSC1	Deletion (intron variant)	TSC1-related disorder +1 more	GLikely benign
Select item 1692401	NM_000368.5(TSC1):c.2626-7_2626-4del	TSC1	Deletion (intron variant)	TSC1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3052261	NM_000368.5(TSC1):c.2626-24G>A	TSC1	Single nucleotide variant (intron variant)	TSC1-related disorder	GLikely benign
Select item 255949	NM_000368.5(TSC1):c.2625+19G>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +1 more	GBenign/Likely benign
Select item 1558488	NM_000368.5(TSC1):c.2601G>A (p.Gln867=)	TSC1	Single nucleotide variant (synonymous variant)	TSC1-related disorder +1 more	GLikely benign
Select item 466085	NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)	TSC1 (Q842* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 64710	NM_000368.5(TSC1):c.2505C>T (p.Leu835=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +5 more	GBenign/Likely benign
Select item 64735	NM_000368.5(TSC1):c.2478G>C (p.Leu826=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +4 more	GBenign/Likely benign
Select item 466080	NM_000368.5(TSC1):c.2424G>A (p.Ala808=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 237709	NM_000368.5(TSC1):c.2423C>T (p.Ala808Val)	TSC1 (A808V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +5 more	GBenign/Likely benign
Select item 48948	NM_000368.5(TSC1):c.2392-35T>C	TSC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 755699	NM_000368.5(TSC1):c.2364A>G (p.Glu788=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +1 more	GLikely benign
Select item 48936	NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter)	TSC1 (Q767* +3 more)	Single nucleotide variant (nonsense)	TSC1-related disorder	GPathogenic
Select item 48931	NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)	TSC1 (N762S +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3032833	NM_000368.5(TSC1):c.2282dup (p.Tyr761Ter)	TSC1 (Y410* +10 more)	Duplication (nonsense +2 more)	TSC1-related disorder	GPathogenic
Select item 207615	NM_000368.5(TSC1):c.2209-9C>G	TSC1	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +4 more	GConflicting classifications of pathogenicity
Select item 5103	NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)	TSC1 (H732Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 663558	NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys)	TSC1 (R655C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 207614	NM_000368.5(TSC1):c.2115G>A (p.Glu705=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 64734	NM_000368.5(TSC1):c.2077G>C (p.Asp693His)	TSC1 (D693H +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 41694	NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)	TSC1 (R692Q +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +5 more	GConflicting classifications of pathogenicity
Select item 48873	NM_000368.5(TSC1):c.2023del (p.Asp675fs)	TSC1 (D554fs +2 more)	Deletion (frameshift variant)	TSC1-related disorder +1 more	GPathogenic
Select item 466056	NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg)	TSC1 (K666R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 466054	NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr)	TSC1 (A659T +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 416684	NM_000368.5(TSC1):c.1974C>T (p.Asp658=)	TSC1	Single nucleotide variant (synonymous variant)	TSC1-related disorder +6 more	GBenign/Likely benign
Select item 41692	NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)	TSC1 (Q654E +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 141699	NM_000368.5(TSC1):c.1936A>G (p.Met646Val)	TSC1 (M646V +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +5 more	GBenign/Likely benign
Select item 135364	NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)	TSC1 (P641S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 229732	NM_000368.5(TSC1):c.1878G>A (p.Glu626=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +4 more	GLikely benign
Select item 255948	NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)	TSC1 (E625A +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 2816716	NM_000368.5(TSC1):c.1841A>G (p.Lys614Arg)	TSC1 (K493R +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 387643	NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg)	TSC1 (G599R +3 more)	Single nucleotide variant (missense variant)	TSC1-related disorder +4 more	GBenign/Likely benign
Select item 220765	NM_000368.5(TSC1):c.1794C>T (p.Ser598=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 237705	NM_000368.5(TSC1):c.1773G>A (p.Pro591=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 5099	NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)	TSC1 (K587R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GBenign
Select item 48821	NM_000368.5(TSC1):c.1726T>C (p.Leu576=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +5 more	GBenign
Select item 137730	NM_000368.5(TSC1):c.1701G>A (p.Ala567=)	TSC1	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +5 more	GBenign/Likely benign
Select item 64843	NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)	TSC1 (A567V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
Select item 416652	NM_000368.5(TSC1):c.1611C>T (p.His537=)	TSC1	Single nucleotide variant (synonymous variant)	TSC1-related disorder +2 more	GBenign/Likely benign
Select item 377283	NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)	TSC1 (S530T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 3061108	NM_000368.5(TSC1):c.1574_1584delinsTTTCCAAGGG (p.Ser525fs)	TSC1 (S174fs +8 more)	Indel (frameshift variant +1 more)	TSC1-related disorder	GPathogenic
Select item 64759	NM_000368.5(TSC1):c.1584C>T (p.Gly528=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +3 more	GBenign/Likely benign
Select item 3047107	NM_000368.5(TSC1):c.1578T>C (p.Ser526=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	TSC1-related disorder	GLikely benign
Select item 207633	NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln)	TSC1 (R517Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1159804	NM_000368.5(TSC1):c.1549C>A (p.Arg517=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 3033600	NM_000368.5(TSC1):c.1527dup (p.Asp510fs)	TSC1 (D159fs +8 more)	Duplication (frameshift variant +1 more)	TSC1-related disorder	GPathogenic
Select item 2793269	NM_000368.5(TSC1):c.1472C>G (p.Thr491Arg)	TSC1 (T140R +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 416669	NM_000368.5(TSC1):c.1439-4T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome +4 more	GBenign/Likely benign
Select item 48784	NM_000368.5(TSC1):c.1439-37C>T	TSC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 665931	NM_000368.5(TSC1):c.1418T>C (p.Ile473Thr)	TSC1 (I352T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2632523	NM_000368.5(TSC1):c.1416del (p.Ser472fs)	TSC1 (S121fs +8 more)	Deletion (frameshift variant +1 more)	TSC1-related disorder	GPathogenic
Select item 48770	NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)	TSC1 (P448S +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 48768	NM_000368.5(TSC1):c.1335A>G (p.Glu445=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +5 more	GBenign
Select item 255947	NM_000368.5(TSC1):c.1333+14G>A	TSC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 48765	NM_000368.5(TSC1):c.1333+5A>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +5 more	GBenign/Likely benign
Select item 207632	NM_000368.5(TSC1):c.1332A>G (p.Ser444=)	TSC1	Single nucleotide variant (synonymous variant)	TSC1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 466021	NM_000368.5(TSC1):c.1302A>G (p.Arg434=)	TSC1	Single nucleotide variant (synonymous variant)	TSC1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 179768	NM_000368.5(TSC1):c.1251A>G (p.Thr417=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 255946	NM_000368.5(TSC1):c.1248C>T (p.Val416=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 848377	NM_000368.5(TSC1):c.1244C>T (p.Thr415Ile)	TSC1 (T364I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 255945	NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +6 more	GBenign/Likely benign
Select item 48751	NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)	TSC1 (S403L +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 378767	NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)	TSC1 (L388P +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 48747	NM_000368.5(TSC1):c.1142-33A>G	TSC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 466008	NM_000368.5(TSC1):c.1141+10T>C	TSC1	Single nucleotide variant (intron variant)	TSC1-related disorder +2 more	GBenign/Likely benign
Select item 411260	NM_000368.5(TSC1):c.1113C>A (p.His371Gln)	TSC1 (H371Q +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 237696	NM_000368.5(TSC1):c.1110A>T (p.Ser370=)	TSC1	Single nucleotide variant (synonymous variant)	TSC1-related disorder +3 more	GBenign/Likely benign
Select item 1531015	NM_000368.5(TSC1):c.1107G>T (p.Leu369=)	TSC1	Single nucleotide variant (synonymous variant)	TSC1-related disorder +2 more	GLikely benign
Select item 41687	NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)	TSC1 (T360N +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +6 more	GBenign/Likely benign
Select item 1432697	NM_000368.5(TSC1):c.1034C>T (p.Thr345Ile)	TSC1 (T224I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 365518	NM_000368.5(TSC1):c.1002G>A (p.Ser334=)	TSC1	Single nucleotide variant (synonymous variant)	TSC1-related disorder +6 more	GBenign/Likely benign
Select item 41686	NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)	TSC1 (S334L +2 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 41700	NM_000368.5(TSC1):c.965T>C (p.Met322Thr)	TSC1 (M322T +2 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +5 more	GBenign
Select item 207630	NM_000368.5(TSC1):c.946C>T (p.Arg316Trp)	TSC1 (R316W +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity

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