"Baylor Genetics"[submitter] AND "TSC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1312577	NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr)	TSC1 (H1042Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1495237	NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr)	TSC1 (H1159Y +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 411284	NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala)	TSC1 (P1142A +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1009757	NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr)	TSC1 (H1018Y +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 184790	NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)	TSC1 (D1136E +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 2679317	NM_000368.5(TSC1):c.3292A>G (p.Asn1098Asp)	TSC1 (N1032D +15 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 195727	NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)	TSC1 (R1093Q +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 853797	NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr)	TSC1 (A1041T +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 640411	NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)	TSC1 (A1092S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2679306	NM_000368.5(TSC1):c.3224C>G (p.Pro1075Arg)	TSC1 (P1009R +15 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679316	NM_000368.5(TSC1):c.3190_3192del (p.Glu1064del)	TSC1 (E1012del +15 more)	Deletion (inframe deletion +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 646880	NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser)	TSC1 (P1000S +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 643562	NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer)	TSC1	Insertion (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1447036	NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp)	TSC1 (G1034D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 954161	NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu)	TSC1 (P900L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 466111	NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)	TSC1 (N1008S +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 486596	NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile)	TSC1 (M1004I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 486574	NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr)	TSC1 (M1004T +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 466109	NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly)	TSC1 (C996G +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GUncertain significance
Select item 1024630	NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr)	TSC1 (C874Y +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 2428914	NM_000368.5(TSC1):c.2975+1G>A	TSC1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2157965	NM_000368.5(TSC1):c.2899G>T (p.Gly967Cys)	TSC1 (G901C +15 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2679320	NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)	TSC1 (L614fs +15 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 3240644	NM_000368.5(TSC1):c.2869G>T (p.Val957Leu)	TSC1 (V606L +15 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 846001	NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn)	TSC1 (S945N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1002691	NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser)	TSC1 (A823S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 3240650	NM_000368.5(TSC1):c.2814-2A>T	TSC1	Single nucleotide variant (splice acceptor variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 958677	NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr)	TSC1 (I788T +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GUncertain significance
Select item 968321	NM_000368.5(TSC1):c.2698C>G (p.Gln900Glu)	TSC1 (Q849E +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 834337	NM_000368.5(TSC1):c.2680C>T (p.His894Tyr)	TSC1 (H843Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 534449	NM_000368.5(TSC1):c.2640G>T (p.Met880Ile)	TSC1 (M880I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 955141	NM_000368.5(TSC1):c.2635A>G (p.Met879Val)	TSC1 (M828V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 934639	NM_000368.5(TSC1):c.2572G>A (p.Val858Ile)	TSC1 (V737I +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 48976	NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs)	TSC1 (L732fs +2 more)	Deletion (frameshift variant)	Tuberous sclerosis 1	GPathogenic
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 3240648	NM_000368.5(TSC1):c.2504T>A (p.Leu835His)	TSC1 (L484H +15 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679318	NM_000368.5(TSC1):c.2470A>C (p.Thr824Pro)	TSC1 (T473P +10 more)	Single nucleotide variant (missense variant +2 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 466081	NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala)	TSC1 (T824A +3 more)	Single nucleotide variant (missense variant)	not provided +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 3240646	NM_000368.5(TSC1):c.2392-93C>T	TSC1	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 3240647	NM_000368.5(TSC1):c.2378G>T (p.Ser793Ile)	TSC1 (S442I +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 644408	NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys)	TSC1 (Y669C +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GConflicting classifications of pathogenicity
Select item 64708	NM_000368.5(TSC1):c.2329del (p.Ser777fs)	TSC1 (S656fs +3 more)	Deletion (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 643306	NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys)	TSC1 (R767C +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 572233	NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu)	TSC1 (Q767E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 653307	NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)	TSC1 (N641D +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GConflicting classifications of pathogenicity
Select item 2679315	NM_000368.5(TSC1):c.2208+7A>T	TSC1	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
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 2679312	NM_000368.5(TSC1):c.2191G>A (p.Glu731Lys)	TSC1 (E380K +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679300	NM_000368.5(TSC1):c.2185C>G (p.Leu729Val)	TSC1 (L378V +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 1064201	NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr)	TSC1 (A607T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1787136	NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)	TSC1 (K603E +10 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GUncertain significance
Select item 411245	NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln)	TSC1 (R718Q +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +4 more	GUncertain significance
Select item 569785	NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp)	TSC1 (R715W +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +2 more	GUncertain significance
Select item 820652	NM_000368.5(TSC1):c.2117G>A (p.Arg706His)	TSC1 (R585H +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GUncertain significance
Select item 663558	NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys)	TSC1 (R655C +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 48905	NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)	TSC1	Deletion (nonsense)	Isolated focal cortical dysplasia type II +2 more	GPathogenic
Select item 2679302	NM_000368.5(TSC1):c.2102A>G (p.Gln701Arg)	TSC1 (Q350R +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2679301	NM_000368.5(TSC1):c.2093T>C (p.Leu698Pro)	TSC1 (L347P +10 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 2094944	NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)	TSC1 (D376N +10 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
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 820641	NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro)	TSC1 (R638P +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GUncertain significance
Select item 64733	NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)	TSC1 (P684del +3 more)	Microsatellite (inframe_deletion)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 843140	NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg)	TSC1 (P683R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 48881	NM_000368.5(TSC1):c.2042-2A>G	TSC1	Single nucleotide variant (splice acceptor variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GLikely pathogenic
Select item 1031535	NM_000368.5(TSC1):c.2012G>T (p.Ser671Ile)	TSC1 (S620I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2679304	NM_000368.5(TSC1):c.1966G>A (p.Gly656Arg)	TSC1 (G305R +8 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 648921	NM_000368.5(TSC1):c.1937T>C (p.Met646Thr)	TSC1 (M525T +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +3 more	GUncertain significance
Select item 1254303	NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg)	TSC1 (G512R +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GConflicting classifications of pathogenicity
Select item 255948	NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)	TSC1 (E625A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2679308	NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)	TSC1 (K272R +8 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 411248	NM_000368.5(TSC1):c.1818T>A (p.His606Gln)	TSC1 (H606Q +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
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 642067	NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn)	TSC1 (D484N +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 568289	NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg)	TSC1 (P603R +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 657061	NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu)	TSC1 (P602L +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 466043	NM_000368.5(TSC1):c.1800G>C (p.Gln600His)	TSC1 (Q600H +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GUncertain significance
Select item 365517	NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)	TSC1 (T582I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 648763	NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs)	TSC1 (S575fs +3 more)	Duplication (frameshift variant)	Tuberous sclerosis 1 +1 more	GPathogenic
Select item 702514	NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp)	TSC1 (R466W +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 1963301	NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)	TSC1 (D383Y +8 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 576077	NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe)	TSC1 (I489F +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 466028	NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr)	TSC1 (K477T +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 571832	NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg)	TSC1 (C431R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +3 more	GUncertain significance
Select item 135362	NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)	TSC1 (A428L +3 more)	Indel (missense variant)	Isolated focal cortical dysplasia type II +2 more	GUncertain significance
Select item 2679322	NM_000368.5(TSC1):c.1264-2A>G	TSC1	Single nucleotide variant (splice acceptor variant)	Isolated focal cortical dysplasia type II	GLikely pathogenic
Select item 3240645	NM_000368.5(TSC1):c.1264-3C>G	TSC1	Single nucleotide variant (intron variant)	Isolated focal cortical dysplasia type II	GUncertain significance
Select item 574162	NM_000368.5(TSC1):c.1263+5G>A	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 534433	NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg)	TSC1 (P419R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 237697	NM_000368.5(TSC1):c.1256C>A (p.Pro419His)	TSC1 (P419H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1761687	NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr)	TSC1 (P101T +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1754074	NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)	TSC1 (I288F +8 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GUncertain significance
Select item 1017520	NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser)	TSC1 (P275S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1482132	NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp)	TSC1 (G261D +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 423590	NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser)	TSC1 (T380S +2 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 2679310	NM_000368.5(TSC1):c.1076C>T (p.Pro359Leu)	TSC1 (P238L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Isolated focal cortical dysplasia type II	GUncertain significance
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 639266	NM_000368.5(TSC1):c.1030-5C>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome +2 more	GUncertain significance

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