ClinVar for Gene (Select 9211) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383206	NM_005097.4(LGI1):c.953T>C (p.Phe318Ser)	LGI1 (F270S +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, familial temporal lobe, 1	GLikely pathogenic
Select item 3381691	NM_005097.4(LGI1):c.311A>G (p.Asp104Gly)	LGI1 (D104G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3381521	NM_005097.4(LGI1):c.1643A>G (p.Tyr548Cys)	LGI1 (T288A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373416	NM_005097.4(LGI1):c.359+5G>A	LGI1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3370774	NM_005097.4(LGI1):c.396A>T (p.Arg132Ser)	LGI1 (R132S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366201	NM_005097.4(LGI1):c.1541T>G (p.Phe514Cys)	LGI1 (F466C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3359042	NM_005097.4(LGI1):c.1532T>A (p.Phe511Tyr)	LGI1 (F463Y +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 3343422	NM_005097.4(LGI1):c.898G>A (p.Ala300Thr)	LGI1 (A252T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3342040	NM_005097.4(LGI1):c.674-1G>A	LGI1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3337248	NM_005097.4(LGI1):c.56T>C (p.Ile19Thr)	LGI1 (I19T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3290541	NM_005097.4(LGI1):c.1166G>C (p.Arg389Thr)	LGI1 (R341T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3290540	NM_005097.4(LGI1):c.1030T>G (p.Trp344Gly)	LGI1 (W296G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3290539	NM_005097.4(LGI1):c.62A>G (p.Tyr21Cys)	LGI1 (Y21C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253497	NM_005097.4(LGI1):c.592A>T (p.Ile198Phe)	LGI1 (I150F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252683	NM_005097.4(LGI1):c.893T>C (p.Ile298Thr)	LGI1 (I250T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3244841	NC_000010.10:g.(?_95518569)_(95521794_?)del	LGI1	Deletion	Autosomal dominant epilepsy with auditory features	GLikely pathogenic
Select item 3244840	NC_000010.10:g.(?_95517902)_(95518608_?)del	LGI1	Deletion	Autosomal dominant epilepsy with auditory features	GPathogenic
Select item 3235054	NM_005097.4(LGI1):c.1570T>G (p.Ser524Ala)	LGI1 (S476A +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 3118515	NM_005097.4(LGI1):c.872T>C (p.Ile291Thr)	LGI1 (I291T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3118514	NM_005097.4(LGI1):c.866T>C (p.Ile289Thr)	LGI1 (I241T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2964311	NM_005097.4(LGI1):c.716T>C (p.Ile239Thr)	LGI1 (I191T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2919930	NM_005097.4(LGI1):c.1467T>C (p.Tyr489=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2919499	NM_005097.4(LGI1):c.1586C>T (p.Ser529Phe)	LGI1 (S529F +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2914439	NM_005097.4(LGI1):c.747T>C (p.Tyr249=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2902550	NM_005097.4(LGI1):c.1388C>T (p.Ser463Phe)	LGI1 (S415F +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2898733	NM_005097.4(LGI1):c.359+15T>A	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2898731	NM_005097.4(LGI1):c.359+14del	LGI1	Deletion (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2898310	NM_005097.4(LGI1):c.1296G>A (p.Val432=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2888939	NM_005097.4(LGI1):c.1176G>C (p.Gln392His)	LGI1 (Q392H +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2856344	NM_005097.4(LGI1):c.1171C>T (p.Pro391Ser)	LGI1 (P343S +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2846735	NM_005097.4(LGI1):c.432-11_432-10insCT	LGI1	Insertion (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2844259	NM_005097.4(LGI1):c.163T>C (p.Cys55Arg)	LGI1 (C55R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2839772	NM_005097.4(LGI1):c.416del (p.Lys139fs)	LGI1 (K139fs)	Deletion (frameshift variant +1 more)	Autosomal dominant epilepsy with auditory features	GPathogenic
Select item 2817983	NM_005097.4(LGI1):c.1011A>C (p.Thr337=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2815627	NM_005097.4(LGI1):c.196C>G (p.Pro66Ala)	LGI1 (P66A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2812874	NM_005097.4(LGI1):c.758C>T (p.Ala253Val)	LGI1 (A253V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2811007	NM_005097.4(LGI1):c.1433T>C (p.Val478Ala)	LGI1 (V478A +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2808452	NM_005097.4(LGI1):c.1515T>C (p.Asp505=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2806085	NM_005097.4(LGI1):c.360-19A>G	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2800216	NM_005097.4(LGI1):c.1188G>A (p.Thr396=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2796165	NM_005097.4(LGI1):c.742_743delinsAT (p.Glu248Met)	LGI1 (E200M +1 more)	Indel (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2782285	NM_005097.4(LGI1):c.1381G>A (p.Gly461Arg)	LGI1 (G413R +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2779746	NM_005097.4(LGI1):c.221T>C (p.Phe74Ser)	LGI1 (F74S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2772177	NM_005097.4(LGI1):c.484C>T (p.Leu162=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2770912	NM_005097.4(LGI1):c.329C>T (p.Ala110Val)	LGI1 (A110V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2770183	NM_005097.4(LGI1):c.1434G>A (p.Val478=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2769864	NM_005097.4(LGI1):c.749T>G (p.Val250Gly)	LGI1 (V202G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2766839	NM_005097.4(LGI1):c.358T>G (p.Leu120Val)	LGI1 (L120V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2758123	NM_005097.4(LGI1):c.882G>C (p.Gln294His)	LGI1 (Q294H +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2756294	NM_005097.4(LGI1):c.1525G>A (p.Ala509Thr)	LGI1 (A509T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2756254	NM_005097.4(LGI1):c.600C>A (p.Cys200Ter)	LGI1 (C200* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant epilepsy with auditory features	GPathogenic
Select item 2755894	NM_005097.4(LGI1):c.687T>G (p.Ser229=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2751259	NM_005097.4(LGI1):c.361T>A (p.Phe121Ile)	LGI1 (F121I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2746608	NM_005097.4(LGI1):c.1104C>A (p.Tyr368Ter)	LGI1 (Y368* +1 more)	Single nucleotide variant (nonsense +2 more)	Autosomal dominant epilepsy with auditory features	GPathogenic
Select item 2744560	NM_005097.4(LGI1):c.342T>G (p.Leu114=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2740605	NM_005097.4(LGI1):c.1066T>C (p.Phe356Leu)	LGI1 (F308L +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2735458	NM_005097.4(LGI1):c.598del (p.Cys200fs)	LGI1 (C200fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal dominant epilepsy with auditory features	GPathogenic
Select item 2732857	NM_005097.4(LGI1):c.503+15G>T	LGI1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2730764	NM_005097.4(LGI1):c.288-17G>C	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2718072	NM_005097.4(LGI1):c.359+7A>C	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2717922	NM_005097.4(LGI1):c.827ACA[1] (p.Asn277del)	LGI1 (N229del +1 more)	Microsatellite (inframe_deletion +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2715597	NM_005097.4(LGI1):c.1630A>G (p.Asn544Asp)	LGI1 (N496D +1 more)	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2715012	NM_005097.4(LGI1):c.153T>C (p.Asp51=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2712256	NM_005097.4(LGI1):c.1302A>G (p.Ala434=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2711138	NM_005097.4(LGI1):c.1474C>T (p.Leu492Phe)	LGI1 (L444F +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2708933	NM_005097.4(LGI1):c.828C>G (p.Asp276Glu)	LGI1 (D228E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2697263	NM_005097.4(LGI1):c.673+19T>C	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2691875	NM_005097.4(LGI1):c.682_683del (p.Lys228fs)	LGI1 (K180fs +1 more)	Deletion (frameshift variant +1 more)	Epilepsy, familial temporal lobe, 1	GLikely pathogenic
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2664977	NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)	LGI1 (Q187fs +1 more)	Duplication (frameshift variant +1 more)	Epilepsy, familial temporal lobe, 1	GLikely pathogenic
Select item 2637090	NM_005097.4(LGI1):c.673+2T>A	LGI1	Single nucleotide variant (splice donor variant)	LGI1-related disorder	GLikely pathogenic
Select item 2627607	NM_005097.4(LGI1):c.187del (p.Arg63fs)	LGI1 (R63fs)	Deletion (frameshift variant +1 more)	Epilepsy, familial temporal lobe, 1	GLikely pathogenic
Select item 2626760	NM_005097.4(LGI1):c.287+3G>C	LGI1	Single nucleotide variant (intron variant)	Seizure	GLikely pathogenic
Select item 2582016	NM_005097.4(LGI1):c.216-4T>G	LGI1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2579986	NM_005097.4(LGI1):c.1336A>G (p.Ile446Val)	LGI1 (I398V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2576586	NM_005097.4(LGI1):c.790G>C (p.Glu264Gln)	LGI1 (E216Q +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 2575844	NM_005097.4(LGI1):c.1130A>C (p.Tyr377Ser)	LGI1 (Y329S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574458	NM_005097.4(LGI1):c.610C>T (p.Pro204Ser)	LGI1 (P156S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573798	NM_005097.4(LGI1):c.611C>G (p.Pro204Arg)	LGI1 (P156R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2558012	NM_005097.4(LGI1):c.869T>G (p.Val290Gly)	LGI1 (V242G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2543549	NM_005097.4(LGI1):c.1172C>T (p.Pro391Leu)	LGI1 (P391L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2506829	NM_005097.4(LGI1):c.429C>G (p.His143Gln)	LGI1 (H143Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502589	NM_005097.4(LGI1):c.1610T>G (p.Phe537Cys)	LGI1 (F489C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2476833	NM_005097.4(LGI1):c.602A>C (p.Glu201Ala)	LGI1 (E153A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2446570	NM_005097.4(LGI1):c.754A>G (p.Ile252Val)	LGI1 (I204V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446046	NM_005097.4(LGI1):c.1355T>C (p.Ile452Thr)	LGI1 (I404T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy	GLikely pathogenic
Select item 2433424	NM_005097.4(LGI1):c.167A>G (p.Glu56Gly)	LGI1 (E56G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2425296	NC_000010.10:g.(?_95549836)_(95557560_?)dup	LGI1	Duplication	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2425295	NC_000010.10:g.(?_95517902)_(95518136_?)del	LGI1	Deletion	Autosomal dominant epilepsy with auditory features	GPathogenic
Select item 2420426	NM_005097.4(LGI1):c.674-16T>G	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2420221	NM_005097.4(LGI1):c.1185A>G (p.Arg395=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2419507	NM_005097.4(LGI1):c.821A>G (p.Asn274Ser)	LGI1 (N226S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2417909	NM_005097.4(LGI1):c.438T>G (p.Leu146=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign

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