ClinVar for MedGen (Select 344288) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3245192	NC_000009.11:g.(?_135820435)_(135823066_?)del		Deletion	Tuberous sclerosis 1	GUncertain significance
Select item 3245191	NC_000009.11:g.(?_135820255)_(135821636_?)del		Deletion	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 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 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 3234028	NM_000368.5(TSC1):c.1308_1310del (p.His437del)	TSC1 (H119del +8 more)	Deletion (inframe_deletion +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3148714	NM_000368.5(TSC1):c.2392-2A>G	TSC1	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 1	GLikely pathogenic
Select item 3148706	NM_000368.5(TSC1):c.2392-1G>T	TSC1	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 1	GLikely pathogenic
Select item 3148658	NM_000368.5(TSC1):c.2519C>A (p.Ser840Ter)	TSC1 (S719* +15 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 1	GPathogenic
Select item 3148639	NM_000368.5(TSC1):c.98del (p.Leu33fs)	TSC1 (L33fs)	Deletion (frameshift variant +3 more)	Tuberous sclerosis 1	GPathogenic
Select item 3075764	NM_000368.5(TSC1):c.1997+2T>C	TSC1	Single nucleotide variant (splice donor variant)	Tuberous sclerosis syndrome +1 more	GLikely pathogenic
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 3021041	NM_000368.5(TSC1):c.107-16C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 3020732	NM_000368.5(TSC1):c.1390G>A (p.Gly464Ser)	TSC1 (G113S +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3020714	NM_000368.5(TSC1):c.2209-7C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 3020658	NM_000368.5(TSC1):c.2831C>T (p.Ala944Val)	TSC1 (A593V +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 3020617	NM_000368.5(TSC1):c.3142C>T (p.Pro1048Ser)	TSC1 (P1043S +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3020605	NM_000368.5(TSC1):c.1141+4T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GUncertain significance
Select item 3019029	NM_000368.5(TSC1):c.2556G>A (p.Leu852=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 1	GLikely benign
Select item 3018027	NM_000368.5(TSC1):c.2391G>T (p.Gln797His)	TSC1 (Q480H +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1 +2 more	GUncertain significance
Select item 3017579	NM_000368.5(TSC1):c.1096C>A (p.Pro366Thr)	TSC1 (P16T +4 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3016825	NM_000368.5(TSC1):c.363+19T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 3015945	NM_000368.5(TSC1):c.661A>G (p.Lys221Glu)	TSC1 (K170E +2 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3015243	NM_000368.5(TSC1):c.2187G>A (p.Leu729=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 1	GBenign
Select item 3014508	NM_000368.5(TSC1):c.786C>A (p.Ile262=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 1	GLikely benign
Select item 3012218	NM_000368.5(TSC1):c.2197A>C (p.Asn733His)	TSC1 (N415H +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3010330	NM_000368.5(TSC1):c.2208+15G>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 3008296	NM_000368.5(TSC1):c.480T>A (p.Arg160=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3007572	NM_000368.5(TSC1):c.636C>T (p.Asn212=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 1	GLikely benign
Select item 3007559	NM_000368.5(TSC1):c.1030-19T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 3006864	NM_000368.5(TSC1):c.1940A>T (p.Glu647Val)	TSC1 (E330V +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3006832	NM_000368.5(TSC1):c.2317A>G (p.Thr773Ala)	TSC1 (T456A +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3005629	NM_000368.5(TSC1):c.508+9C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 3005038	NM_000368.5(TSC1):c.2502+11del	TSC1	Deletion (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 3003689	NM_000368.5(TSC1):c.3100G>C (p.Gly1034Arg)	TSC1 (G1029R +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 3000836	NM_000368.5(TSC1):c.1817A>G (p.His606Arg)	TSC1 (H289R +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2999540	NM_000368.5(TSC1):c.3223C>A (p.Pro1075Thr)	TSC1 (P1023T +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2998336	NM_000368.5(TSC1):c.1438+14G>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2996593	NM_000368.5(TSC1):c.1800G>A (p.Gln600=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 1	GLikely benign
Select item 2995206	NM_000368.5(TSC1):c.3186G>A (p.Arg1062=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 1	GLikely benign
Select item 2995056	NM_000368.5(TSC1):c.509-17A>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GUncertain significance
Select item 2990838	NM_000368.5(TSC1):c.1548G>A (p.Gln516=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 1	GLikely benign
Select item 2990463	NM_000368.5(TSC1):c.3229A>G (p.Thr1077Ala)	TSC1 (T1062A +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2988366	NM_000368.5(TSC1):c.2814-7C>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GUncertain significance
Select item 2987782	NM_000368.5(TSC1):c.364-16A>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2987771	NM_000368.5(TSC1):c.663+13T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2981291	NM_000368.5(TSC1):c.330A>C (p.Ala110=)	TSC1	Single nucleotide variant (synonymous variant +3 more)	Tuberous sclerosis 1	GLikely benign
Select item 2980778	NM_000368.5(TSC1):c.664-12C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2974662	NM_000368.5(TSC1):c.2208+10G>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2972170	NM_000368.5(TSC1):c.107-4T>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2968119	NM_000368.5(TSC1):c.3126C>T (p.Ser1042=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 1	GLikely benign
Select item 2964191	NM_000368.5(TSC1):c.2975+12_2975+13del	TSC1	Deletion (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2960987	NM_000368.5(TSC1):c.936C>T (p.Tyr312=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 1	GLikely benign
Select item 2959178	NM_000368.5(TSC1):c.3015A>G (p.Val1005=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 1	GLikely benign
Select item 2956023	NM_000368.5(TSC1):c.710C>A (p.Ser237Tyr)	TSC1 (S237Y +2 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2920519	NM_000368.5(TSC1):c.211-12T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2919123	NM_000368.5(TSC1):c.931C>T (p.Pro311Ser)	TSC1 (P311S +2 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2916950	NM_000368.5(TSC1):c.2467C>G (p.His823Asp)	TSC1 (H505D +10 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2912290	NM_000368.5(TSC1):c.2208+16G>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2911802	NM_000368.5(TSC1):c.2391+19G>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2911519	NM_000368.5(TSC1):c.273G>T (p.Ser91=)	TSC1	Single nucleotide variant (synonymous variant +3 more)	Tuberous sclerosis 1	GLikely benign
Select item 2910237	NM_000368.5(TSC1):c.1119C>G (p.Tyr373Ter)	TSC1 (Y322* +4 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 1	GPathogenic
Select item 2909974	NM_000368.5(TSC1):c.107-6A>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2907179	NM_000368.5(TSC1):c.638T>C (p.Leu213Pro)	TSC1 (L213P +2 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2907088	NM_000368.5(TSC1):c.2813+9C>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2904245	NM_000368.5(TSC1):c.1997+15C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2903834	NM_000368.5(TSC1):c.31C>T (p.Leu11Phe)	TSC1 (L11F)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2902644	NM_000368.5(TSC1):c.1311TCT[1] (p.Leu439del)	TSC1 (L387del +8 more)	Microsatellite (inframe_deletion +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2902497	NM_000368.5(TSC1):c.19G>A (p.Val7Ile)	TSC1 (V7I)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2902420	NM_000368.5(TSC1):c.385C>A (p.Leu129Ile)	TSC1 (L78I +2 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2901579	NM_000368.5(TSC1):c.106+16T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GUncertain significance
Select item 2899285	NM_000368.5(TSC1):c.1773G>C (p.Pro591=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 1	GLikely benign
Select item 2897677	NM_000368.5(TSC1):c.1072C>T (p.Pro358Ser)	TSC1 (P8S +4 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2896973	NM_000368.5(TSC1):c.52A>T (p.Met18Leu)	TSC1 (M18L)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2895483	NM_000368.5(TSC1):c.1271G>A (p.Arg424Lys)	TSC1 (R372K +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2894464	NM_000368.5(TSC1):c.1325G>A (p.Arg442Lys)	TSC1 (R391K +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2893925	NM_000368.5(TSC1):c.364-15C>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2892752	NM_000368.5(TSC1):c.1438+9T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2891461	NM_000368.5(TSC1):c.2055A>G (p.Ser685=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2888619	NM_000368.5(TSC1):c.25G>A (p.Glu9Lys)	TSC1 (E9K)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2886796	NM_000368.5(TSC1):c.913+20C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 2884114	NM_000368.5(TSC1):c.1475C>T (p.Ala492Val)	TSC1 (A141V +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GUncertain significance
Select item 2882701	NM_000368.5(TSC1):c.185C>G (p.Thr62Ser)	TSC1 (T62S)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome +2 more	GUncertain significance

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