"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TSC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 647900	NM_002528.7(NTHL1):c.275G>A (p.Arg92His)	NTHL1, TSC2 (R92H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 885578	NM_000548.5(TSC2):c.-82G>T	TSC2	Single nucleotide variant (5 prime UTR variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 207767	NM_000548.5(TSC2):c.-30+1G>C	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2 +3 more	GUncertain significance
Select item 486676	NM_000548.5(TSC2):c.37G>A (p.Glu13Lys)	TSC2 (E13K +1 more)	Single nucleotide variant (missense variant +2 more)	Lymphangiomyomatosis +4 more	GUncertain significance
Select item 50192	NM_000548.5(TSC2):c.138+5G>A	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +3 more	GPathogenic/Likely pathogenic
Select item 1590021	NM_000548.5(TSC2):c.138+18G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GLikely benign
Select item 50100	NM_000548.5(TSC2):c.201C>T (p.Val67=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Lymphangiomyomatosis +5 more	GBenign/Likely benign
Select item 810703	NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)	TSC2 (T21N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 256623	NM_000548.5(TSC2):c.225+12C>A	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +3 more	GLikely benign
Select item 968409	NM_000548.5(TSC2):c.229G>T (p.Ala77Ser)	TSC2 (A77S +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +3 more	GUncertain significance
Select item 642759	NM_000548.5(TSC2):c.233T>C (p.Val78Ala)	TSC2 (V78A +2 more)	Single nucleotide variant (missense variant +1 more)	Lymphangiomyomatosis +2 more	GConflicting classifications of pathogenicity
Select item 49217	NM_000548.5(TSC2):c.262C>T (p.Leu88=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 50116	NM_000548.5(TSC2):c.275A>T (p.Glu92Val)	TSC2 (E92V +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome +6 more	GBenign/Likely benign
Select item 643234	NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)	TSC2 (R98Q +2 more)	Single nucleotide variant (missense variant +1 more)	Lymphangiomyomatosis +5 more	GConflicting classifications of pathogenicity
Select item 133424	NM_000548.5(TSC2):c.336+10A>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GBenign/Likely benign
Select item 664431	NM_000548.5(TSC2):c.365T>A (p.Leu122His)	TSC2 (L73H +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1518879	NM_000548.5(TSC2):c.411C>G (p.His137Gln)	TSC2 (H148Q +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +3 more	GUncertain significance
Select item 824900	NM_000548.5(TSC2):c.444C>T (p.Asp148=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 516772	NM_000548.5(TSC2):c.481+12C>T	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +3 more	GLikely benign
Select item 1599284	NM_000548.5(TSC2):c.482-16G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +3 more	GBenign/Likely benign
Select item 468130	NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)	TSC2 (W167C +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 1035715	NM_000548.5(TSC2):c.523G>C (p.Glu175Gln)	TSC2 (E138Q +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 184186	NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)	TSC2 (N187S +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 207703	NM_000548.5(TSC2):c.583A>G (p.Ile195Val)	TSC2 (I195V +3 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +5 more	GConflicting classifications of pathogenicity
Select item 536097	NM_000548.5(TSC2):c.585C>T (p.Ile195=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +4 more	GLikely benign
Select item 1673777	NM_000548.5(TSC2):c.600-18G>C	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +2 more	GLikely benign
Select item 65102	NM_000548.5(TSC2):c.600-15C>T	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +4 more	GBenign/Likely benign
Select item 386986	NM_000548.5(TSC2):c.627C>T (p.Thr209=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1021820	NM_000548.5(TSC2):c.641_648+1del	TSC2	Deletion (splice donor variant)	Lymphangiomyomatosis +2 more	GUncertain significance
Select item 49379	NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)	TSC2 (E216K +4 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +4 more	GUncertain significance
Select item 1655810	NM_000548.5(TSC2):c.648+11C>G	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +2 more	GLikely benign
Select item 385872	NM_000548.5(TSC2):c.648+17C>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +3 more	GLikely benign
Select item 468172	NM_000548.5(TSC2):c.649-9C>G	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +3 more	GBenign/Likely benign
Select item 826716	NM_000548.5(TSC2):c.693G>A (p.Leu231=)	TSC2	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +3 more	GBenign/Likely benign
Select item 1056341	NM_000548.5(TSC2):c.722T>C (p.Val241Ala)	TSC2 (V192A +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +3 more	GUncertain significance
Select item 256637	NM_000548.5(TSC2):c.726C>T (p.Thr242=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +6 more	GBenign/Likely benign
Select item 184603	NM_000548.5(TSC2):c.775-4G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 238093	NM_000548.5(TSC2):c.814G>A (p.Ala272Thr)	TSC2 (A272T +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1126406	NM_000548.5(TSC2):c.848+10G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GLikely benign
Select item 50009	NM_000548.5(TSC2):c.856A>G (p.Met286Val)	TSC2 (M286V +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +6 more	GBenign/Likely benign
Select item 238095	NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)	TSC2 (E287D +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 577044	NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe)	TSC2 (Y310F +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 49395	NM_000548.5(TSC2):c.948G>A (p.Pro316=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +6 more	GBenign/Likely benign
Select item 1670887	NM_000548.5(TSC2):c.975+15G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GBenign/Likely benign
Select item 1584741	NM_000548.5(TSC2):c.975+19G>T	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +2 more	GLikely benign
Select item 1588724	NM_000548.5(TSC2):c.976-16C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GLikely benign
Select item 49396	NM_000548.5(TSC2):c.976-15G>A	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +4 more	GPathogenic
Select item 468198	NM_000548.5(TSC2):c.997G>T (p.Val333Leu)	TSC2 (V333L +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 65196	NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)	TSC2 (L345F +4 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +3 more	GConflicting classifications of pathogenicity
Select item 535916	NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln)	TSC2 (E366Q +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 960741	NM_000548.5(TSC2):c.1113G>C (p.Gln371His)	TSC2 (Q322H +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 64948	NM_000548.5(TSC2):c.1119+6G>C	TSC2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 413694	NM_000548.5(TSC2):c.1119+12dup	TSC2	Duplication (intron variant)	Tuberous sclerosis 2 +2 more	GBenign/Likely benign
Select item 1577214	NM_000548.5(TSC2):c.1119+11G>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GLikely benign
Select item 378774	NM_000548.5(TSC2):c.1120-17C>T	TSC2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 207656	NM_000548.5(TSC2):c.1131C>T (p.Ser377=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +5 more	GBenign/Likely benign
Select item 596501	NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)	TSC2 (T382I +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 184607	NM_000548.5(TSC2):c.1245G>A (p.Ala415=)	TSC2	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +5 more	GBenign/Likely benign
Select item 1085420	NM_000548.5(TSC2):c.1258-4A>G	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +2 more	GLikely benign
Select item 64940	NM_000548.5(TSC2):c.1281C>G (p.Ile427Met)	TSC2 (I427M +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 49685	NM_000548.5(TSC2):c.1281C>A (p.Ile427=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 944536	NM_000548.5(TSC2):c.1289G>C (p.Arg430Thr)	TSC2 (R430T +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 1138694	NM_000548.5(TSC2):c.1341G>T (p.Ala447=)	TSC2	Single nucleotide variant (synonymous variant)	Lymphangiomyomatosis +3 more	GLikely benign
Select item 380234	NM_000548.5(TSC2):c.1361+20C>G	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +3 more	GBenign/Likely benign
Select item 237964	NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)	TSC2 (R458Q +4 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +5 more	GConflicting classifications of pathogenicity
Select item 1428927	NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu)	TSC2 (F279L +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1664740	NM_000548.5(TSC2):c.1443+9C>G	TSC2	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II +2 more	GLikely benign
Select item 378778	NM_000548.5(TSC2):c.1443+15G>A	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +3 more	GBenign/Likely benign
Select item 64938	NM_000548.5(TSC2):c.1443+18C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 1586898	NM_000548.5(TSC2):c.1443+19G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GLikely benign
Select item 12396	NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	TSC2 (R505* +4 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 65170	NM_000548.5(TSC2):c.1543C>T (p.Leu515=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +6 more	GBenign/Likely benign
Select item 850751	NM_000548.5(TSC2):c.1561A>G (p.Thr521Ala)	TSC2 (T484A +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 49163	NM_000548.5(TSC2):c.1593C>T (p.Ile531=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 467883	NM_000548.5(TSC2):c.1599+9C>T	TSC2	Single nucleotide variant (intron variant)	TSC2-related disorder +3 more	GBenign/Likely benign
Select item 1585597	NM_000548.5(TSC2):c.1599+16C>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GLikely benign
Select item 318313	NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)	TSC2 (P541R +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 49671	NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu)	TSC2 (P543L +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 840573	NM_000548.5(TSC2):c.1652C>T (p.Ala551Val)	TSC2 (A502V +4 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +5 more	GConflicting classifications of pathogenicity
Select item 486623	NM_000548.5(TSC2):c.1662G>A (p.Ser554=)	TSC2	Single nucleotide variant (synonymous variant)	Lymphangiomyomatosis +4 more	GBenign/Likely benign
Select item 940003	NM_000548.5(TSC2):c.1671G>A (p.Leu557=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 65075	NM_000548.5(TSC2):c.1678G>A (p.Val560Met)	TSC2 (V560M +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 1377816	NM_000548.5(TSC2):c.1716+15C>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 512894	NM_000548.5(TSC2):c.1717-20G>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +3 more	GLikely benign
Select item 49617	NM_000548.5(TSC2):c.1717-16C>T	TSC2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 207662	NM_000548.5(TSC2):c.1717-15G>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 1582247	NM_000548.5(TSC2):c.1717-14T>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +3 more	GLikely benign
Select item 413667	NM_000548.5(TSC2):c.1731C>T (p.Thr577=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +5 more	GBenign/Likely benign
Select item 535878	NM_000548.5(TSC2):c.1739C>G (p.Ala580Gly)	TSC2 (A580G +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 855124	NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly)	TSC2 (R385G +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 659073	NM_000548.5(TSC2):c.1762G>A (p.Glu588Lys)	TSC2 (E539K +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 406019	NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly)	TSC2 (S592G +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 535955	NM_000548.5(TSC2):c.1813C>G (p.Pro605Ala)	TSC2 (P605A +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 12397	NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	TSC2 (R611Q +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 378779	NM_000548.5(TSC2):c.1869C>G (p.Ala623=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 137740	NM_000548.5(TSC2):c.1869C>T (p.Ala623=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 577843	NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn)	TSC2 (D624N +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 645127	NM_000548.5(TSC2):c.1885C>G (p.Leu629Val)	TSC2 (L429V +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 640367	NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu)	TSC2 (D435E +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 807947	NM_000548.5(TSC2):c.1912G>T (p.Val638Leu)	TSC2 (V589L +4 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +3 more	GUncertain significance

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