"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TSC1"[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1051862	NM_000368.5(TSC1):c.3460A>G (p.Met1154Val)	TSC1 (M1033V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GUncertain significance
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 951562	NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser)	TSC1 (P1081S +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 416668	NM_000368.5(TSC1):c.3363G>C (p.Leu1121=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1014255	NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg)	TSC1 (S1035R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 534411	NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu)	TSC1 (P1048L +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GUncertain significance
Select item 646728	NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del)	TSC1	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 1051299	NM_000368.5(TSC1):c.3085A>T (p.Ser1029Cys)	TSC1 (S1028C +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GUncertain significance
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 466113	NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)	TSC1 (G1016D +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +5 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 1346786	NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys)	TSC1 (Y845C +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 486579	NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly)	TSC1 (E961G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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 1 +6 more	GBenign/Likely benign
Select item 854476	NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser)	TSC1 (R947S +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 64842	NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)	TSC1 (Q926* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +2 more	GPathogenic
Select item 64828	NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro)	TSC1 (A917P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 652931	NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys)	TSC1 (Y833C +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 48985	NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)	TSC1 (A883T +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
Select item 495837	NM_000368.5(TSC1):c.2626-5_2626-4dup	TSC1	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 195562	NM_000368.5(TSC1):c.2626-4dup	TSC1	Duplication (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 466092	NM_000368.5(TSC1):c.2626-6_2626-4del	TSC1	Deletion (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 195564	NM_000368.5(TSC1):c.2626-5_2626-4del	TSC1	Deletion (intron variant)	Tuberous sclerosis syndrome +6 more	GBenign
Select item 1059728	NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu)	TSC1 (Q722E +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 64710	NM_000368.5(TSC1):c.2505C>T (p.Leu835=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
Select item 137733	NM_000368.5(TSC1):c.2502+18A>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +5 more	GConflicting classifications of pathogenicity
Select item 1060894	NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys)	TSC1 (N697K +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GUncertain significance
Select item 534415	NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser)	TSC1 (A817S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
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 48952	NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)	TSC1 (I807T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 466077	NM_000368.5(TSC1):c.2392-8_2392-7del	TSC1	Deletion (intron variant)	Tuberous sclerosis 1 +2 more	GLikely benign
Select item 64813	NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)	TSC1 (Q797* +3 more)	Single nucleotide variant (nonsense)	Isolated focal cortical dysplasia type II +3 more	GPathogenic
Select item 577919	NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys)	TSC1 (E787K +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 411249	NM_000368.5(TSC1):c.2303G>A (p.Arg768His)	TSC1 (R768H +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 186515	NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr)	TSC1 (D746Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 701752	NM_000368.5(TSC1):c.2208+7A>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +2 more	GLikely benign
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 48885	NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	TSC1 (R692* +3 more)	Single nucleotide variant (nonsense)	Lymphangiomyomatosis +5 more	GPathogenic
Select item 943326	NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala)	TSC1 (T639A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 836707	NM_000368.5(TSC1):c.1988A>T (p.Glu663Val)	TSC1 (E542V +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 416684	NM_000368.5(TSC1):c.1974C>T (p.Asp658=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
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 644492	NM_000368.5(TSC1):c.1816C>T (p.His606Tyr)	TSC1 (H555Y +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 387536	NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys)	TSC1 (Y604C +3 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +5 more	GUncertain significance
Select item 411213	NM_000368.5(TSC1):c.1781T>A (p.Val594Glu)	TSC1 (V594E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 486573	NM_000368.5(TSC1):c.1776G>A (p.Thr592=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
Select item 1450940	NM_000368.5(TSC1):c.1754C>T (p.Pro585Leu)	TSC1 (P464L +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GUncertain significance
Select item 416685	NM_000368.5(TSC1):c.1677C>T (p.Cys559=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 577435	NM_000368.5(TSC1):c.1541G>A (p.Gly514Asp)	TSC1 (G514D +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 1626754	NM_000368.5(TSC1):c.1536C>T (p.Leu512=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely 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 48796	NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	TSC1 (R509* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +4 more	GPathogenic
Select item 237700	NM_000368.5(TSC1):c.1506C>T (p.Gly502=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 534490	NM_000368.5(TSC1):c.1344T>C (p.Pro448=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +3 more	GLikely 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 48764	NM_000368.5(TSC1):c.1333+13C>T	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 48765	NM_000368.5(TSC1):c.1333+5A>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign
Select item 416645	NM_000368.5(TSC1):c.1263+6_1263+8dup	TSC1	Duplication (intron variant)	Tuberous sclerosis 1 +3 more	GBenign/Likely benign
Select item 237698	NM_000368.5(TSC1):c.1257C>G (p.Pro419=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 411267	NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg)	TSC1 (Q413R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 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 syndrome +6 more	GBenign/Likely benign
Select item 380255	NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)	TSC1 (T393I +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 857726	NM_000368.5(TSC1):c.1126G>T (p.Val376Phe)	TSC1 (V325F +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +5 more	GConflicting classifications of pathogenicity
Select item 957619	NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala)	TSC1 (P251A +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
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 48729	NM_000368.5(TSC1):c.1029+1G>A	TSC1	Single nucleotide variant (5 prime UTR variant +1 more)	Tuberous sclerosis 1 +3 more	GPathogenic/Likely pathogenic
Select item 41686	NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)	TSC1 (S334L +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 141980	NM_000368.5(TSC1):c.941C>T (p.Thr314Met)	TSC1 (T314M +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 710561	NM_000368.5(TSC1):c.915G>T (p.Gly305=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +4 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 652627	NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)	TSC1 (S295T +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 956822	NM_000368.5(TSC1):c.846del (p.Ala283fs)	TSC1 (A162fs +2 more)	Deletion (frameshift variant)	Isolated focal cortical dysplasia type II +2 more	GPathogenic/Likely pathogenic
Select item 49083	NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)	TSC1 (R228* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 534416	NM_000368.5(TSC1):c.670A>T (p.Met224Leu)	TSC1 (M224L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 49071	NM_000368.5(TSC1):c.615T>C (p.Ser205=)	TSC1	Single nucleotide variant (synonymous variant)	Lymphangiomyomatosis +6 more	GBenign/Likely benign
Select item 416683	NM_000368.5(TSC1):c.597C>T (p.Phe199=)	TSC1	Single nucleotide variant (synonymous variant)	Lymphangiomyomatosis +5 more	GConflicting classifications of pathogenicity
Select item 1108972	NM_000368.5(TSC1):c.585C>T (p.Tyr195=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
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 1134621	NM_000368.5(TSC1):c.509-9C>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +2 more	GLikely benign
Select item 466144	NM_000368.5(TSC1):c.478C>T (p.Arg160Cys)	TSC1 (R160C +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GUncertain significance
Select item 451865	NM_000368.5(TSC1):c.363+3_363+18del	TSC1	Deletion (intron variant)	Lymphangiomyomatosis +3 more	GUncertain significance
Select item 237711	NM_000368.5(TSC1):c.273G>A (p.Ser91=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	not specified +6 more	GBenign/Likely benign
Select item 645832	NM_000368.5(TSC1):c.272C>T (p.Ser91Leu)	TSC1 (S91L)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 1077225	NM_000368.5(TSC1):c.217T>C (p.Leu73=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 1 +2 more	GLikely benign
Select item 658252	NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)	TSC1 (D24N)	Single nucleotide variant (missense variant +1 more)	Lymphangiomyomatosis +5 more	GConflicting classifications of pathogenicity
Select item 466143	NM_000368.5(TSC1):c.45C>T (p.Asp15=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 1062123	NM_000368.5(TSC1):c.39G>A (p.Met13Ile)	TSC1 (M13I)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome +3 more	GUncertain significance
Select item 821058	NM_000368.5(TSC1):c.22G>A (p.Gly8Arg)	TSC1 (G8R)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 1000666	NM_000368.5(TSC1):c.5C>T (p.Ala2Val)	TSC1 (A2V)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1 +3 more	GUncertain significance

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Items: 90