"Myriad Genetics, Inc."[submitter] AND "TSC1"[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 411272	NM_000368.5(TSC1):c.2975+6A>T	TSC1	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
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 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 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
Select item 237713	NM_000368.5(TSC1):c.2901C>T (p.Gly967=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +1 more	GBenign/Likely benign
Select item 411234	NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)	TSC1 (A944T +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 41695	NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)	TSC1 (T899S +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
Select item 64718	NM_000368.5(TSC1):c.2658del (p.Glu887fs)	TSC1 (E836fs +3 more)	Deletion (frameshift variant)	Tuberous sclerosis 1	GPathogenic
Select item 48987	NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp)	TSC1 (R885W +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
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 48971	NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)	TSC1 (N716fs +3 more)	Deletion (frameshift variant)	Lymphangiomyomatosis +5 more	GPathogenic
Select item 569006	NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)	TSC1 (Q830* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1	GPathogenic
Select item 48962	NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)	TSC1 (S829R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 2583803	NM_000368.5(TSC1):c.2453del (p.Asn818fs)	TSC1 (N467fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 1	GPathogenic
Select item 237709	NM_000368.5(TSC1):c.2423C>T (p.Ala808Val)	TSC1 (A808V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
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 3148714	NM_000368.5(TSC1):c.2392-2A>G	TSC1	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 1	GLikely pathogenic
Select item 48943	NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	TSC1 (R786* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +2 more	GPathogenic
Select item 419826	NM_000368.5(TSC1):c.2208+2T>A	TSC1	Single nucleotide variant (splice donor variant)	Tuberous sclerosis syndrome +4 more	GPathogenic/Likely pathogenic
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 41694	NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)	TSC1 (R692Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2431329	NM_000368.5(TSC1):c.2073_2074delinsTT (p.Arg692Ter)	TSC1 (R341* +10 more)	Indel (nonsense)	Tuberous sclerosis 1	GPathogenic
Select item 48885	NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	TSC1 (R692* +3 more)	Single nucleotide variant (nonsense)	Lymphangiomyomatosis +5 more	GPathogenic
Select item 137732	NM_000368.5(TSC1):c.1998-19T>G	TSC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 48863	NM_000368.5(TSC1):c.1997+1G>A	TSC1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 48862	NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)	TSC1 (A659V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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)	Tuberous sclerosis 1 +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 +4 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)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 5100	NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)	TSC1 (T514fs +3 more)	Microsatellite (frameshift variant)	Tuberous sclerosis 1 +3 more	GPathogenic
Select item 3379160	NM_000368.5(TSC1):c.1861A>C (p.Ile621Leu)	TSC1 (I270L +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1	GLikely benign
Select item 64843	NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)	TSC1 (A567V +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 411282	NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu)	TSC1 (G544E +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 48803	NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro)	TSC1 (A523P +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GBenign/Likely benign
Select item 411220	NM_000368.5(TSC1):c.1528G>A (p.Asp510Asn)	TSC1 (D510N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 48797	NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)	TSC1 (R509Q +3 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +5 more	GBenign/Likely benign
Select item 135363	NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)	TSC1 (S457R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 48770	NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)	TSC1 (P448S +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
Select item 1551827	NM_000368.5(TSC1):c.1334-16C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 1074020	NM_000368.5(TSC1):c.1285_1298del (p.Arg429fs)	TSC1 (R308fs +3 more)	Deletion (frameshift variant)	Tuberous sclerosis 1	GPathogenic
Select item 237699	NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)	TSC1 (D426Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 534492	NM_000368.5(TSC1):c.1273A>G (p.Met425Val)	TSC1 (M425V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 48756	NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs)	TSC1 (R373fs +3 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 48754	NM_000368.5(TSC1):c.1264-12T>C	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 48752	NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)	TSC1 (T417I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 839018	NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu)	TSC1 (G268E +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 378767	NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)	TSC1 (L388P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 466008	NM_000368.5(TSC1):c.1141+10T>C	TSC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 504398	NM_000368.5(TSC1):c.1030-14T>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 48727	NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)	TSC1 (R336W +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GBenign/Likely benign
Select item 49135	NM_000368.5(TSC1):c.989dup (p.Ser331fs)	TSC1 (S210fs +2 more)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
Select item 800246	NM_000368.5(TSC1):c.920C>T (p.Ala307Val)	TSC1 (A307V +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GBenign/Likely benign
Select item 255950	NM_000368.5(TSC1):c.913+8G>C	TSC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 411253	NM_000368.5(TSC1):c.912T>C (p.Tyr304=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
Select item 411277	NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)	TSC1 (P286R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41699	NM_000368.5(TSC1):c.851G>A (p.Arg284His)	TSC1 (R284H +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 207627	NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)	TSC1 (E258K +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 1004712	NM_000368.5(TSC1):c.720T>G (p.His240Gln)	TSC1 (H119Q +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 411286	NM_000368.5(TSC1):c.625A>G (p.Met209Val)	TSC1 (M209V +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 237723	NM_000368.5(TSC1):c.593A>G (p.Asn198Ser)	TSC1 (N198S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 1163321	NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter)	TSC1 (Y134* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 466147	NM_000368.5(TSC1):c.524T>C (p.Val175Ala)	TSC1 (V175A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 486571	NM_000368.5(TSC1):c.518C>T (p.Ala173Val)	TSC1 (A173V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1558518	NM_000368.5(TSC1):c.509-13G>A	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GBenign/Likely benign
Select item 1454414	NM_000368.5(TSC1):c.508+2T>C	TSC1	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 1	GPathogenic/Likely pathogenic
Select item 237721	NM_000368.5(TSC1):c.479G>A (p.Arg160His)	TSC1 (R160H +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 932153	NM_000368.5(TSC1):c.364-2A>G	TSC1	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 1	GPathogenic/Likely pathogenic
Select item 466065	NM_000368.5(TSC1):c.213C>A (p.His71Gln)	TSC1 (H71Q)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 1 +1 more	GLikely benign
Select item 3379173	NM_000368.5(TSC1):c.211-16T>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GLikely benign
Select item 1540056	NM_000368.5(TSC1):c.211-18G>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1	GBenign/Likely benign
Select item 2674427	NM_000368.5(TSC1):c.129delinsAA (p.Asn43fs)	TSC1 (N43fs)	Indel (frameshift variant +3 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 534438	NM_000368.5(TSC1):c.73G>A (p.Val25Met)	TSC1 (V25M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 466150	NM_000368.5(TSC1):c.65G>A (p.Arg22Gln)	TSC1 (R22Q)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 2673949	NM_000368.5(TSC1):c.7C>T (p.Gln3Ter)	TSC1 (Q3*)	Single nucleotide variant (nonsense +3 more)	Tuberous sclerosis 1	GPathogenic
Select item 3073628	NM_000368.5(TSC1):c.-10G>A	TSC1	Single nucleotide variant (5 prime UTR variant +2 more)	Tuberous sclerosis 1 +1 more	GLikely benign
Select item 516768	NM_000368.5(TSC1):c.-17C>T	TSC1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign

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Items: 92