9211[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 503

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 208479	NC_000010.11:g.(93704377_?)_(?_93785620)del	LGI1	Deletion	Epilepsy, familial temporal lobe, 1	GPathogenic
Select item 1211345	NC_000010.11:g.93757739C>T	LGI1	Single nucleotide variant	not provided	GLikely benign
Select item 301650	NM_005097.3(LGI1):c.-304C>T	LGI1	Single nucleotide variant	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 301651	NM_005097.3(LGI1):c.-280G>C	LGI1	Single nucleotide variant	Epilepsy, familial temporal lobe, 1	GLikely benign
Select item 301652	NM_005097.3(LGI1):c.-227T>C	LGI1	Single nucleotide variant	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 301653	NM_005097.4(LGI1):c.-168G>A	LGI1	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 301654	NM_005097.4(LGI1):c.-66G>C	LGI1	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 506416	NM_005097.4(LGI1):c.-33C>T	LGI1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 415035	NM_005097.4(LGI1):c.1A>G (p.Met1Val)	LGI1 (M1V)	Single nucleotide variant (missense variant +2 more)	Epilepsy, familial temporal lobe, 1 +3 more	GConflicting classifications of pathogenicity
Select item 982819	NM_005097.4(LGI1):c.4G>T (p.Glu2Ter)	LGI1 (E2*)	Single nucleotide variant (nonsense +1 more)	Epilepsy, familial temporal lobe, 1	GLikely pathogenic
Select item 2246254	NM_005097.4(LGI1):c.34G>A (p.Ala12Thr)	LGI1 (A12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 284206	NM_005097.4(LGI1):c.34G>T (p.Ala12Ser)	LGI1 (A12S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 2260905	NM_005097.4(LGI1):c.43C>T (p.Pro15Ser)	LGI1 (P15S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2134620	NM_005097.4(LGI1):c.44C>G (p.Pro15Arg)	LGI1 (P15R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 464750	NM_005097.4(LGI1):c.46C>G (p.Leu16Val)	LGI1 (L16V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GConflicting classifications of pathogenicity
Select item 1494056	NM_005097.4(LGI1):c.47T>G (p.Leu16Arg)	LGI1 (L16R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2322705	NM_005097.4(LGI1):c.53G>C (p.Arg18Thr)	LGI1 (R18T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1747298	NM_005097.4(LGI1):c.53G>A (p.Arg18Lys)	LGI1 (R18K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 935676	NM_005097.4(LGI1):c.55A>G (p.Ile19Val)	LGI1 (I19V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
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 1383693	NM_005097.4(LGI1):c.58G>A (p.Ala20Thr)	LGI1 (A20T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 589057	NM_005097.4(LGI1):c.61T>C (p.Tyr21His)	LGI1 (Y21H)	Single nucleotide variant (missense variant +1 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 1355868	NM_005097.4(LGI1):c.64T>A (p.Phe22Ile)	LGI1 (F22I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 1203794	NM_005097.4(LGI1):c.69A>G (p.Leu23=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2047097	NM_005097.4(LGI1):c.73C>T (p.Leu25Phe)	LGI1 (L25F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2144073	NM_005097.4(LGI1):c.75C>G (p.Leu25=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 707761	NM_005097.4(LGI1):c.75C>T (p.Leu25=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 1313538	NM_005097.4(LGI1):c.79T>C (p.Ser27Pro)	LGI1 (S27P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072104	NM_005097.4(LGI1):c.83C>T (p.Ala28Val)	LGI1 (A28V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 1604992	NM_005097.4(LGI1):c.84G>T (p.Ala28=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 1303793	NM_005097.4(LGI1):c.86T>C (p.Leu29Pro)	LGI1 (L29P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 849202	NM_005097.4(LGI1):c.90G>C (p.Leu30Phe)	LGI1 (L30F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 1564760	NM_005097.4(LGI1):c.96T>C (p.Thr32=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 1076005	NM_005097.4(LGI1):c.108del (p.Lys36fs)	LGI1 (K36fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 844479	NM_005097.4(LGI1):c.113C>G (p.Ala38Gly)	LGI1 (A38G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1034558	NM_005097.4(LGI1):c.122A>G (p.Lys41Arg)	LGI1 (K41R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 208476	NM_005097.4(LGI1):c.124T>G (p.Cys42Gly)	LGI1 (C42G)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial temporal lobe, 1	Gnot provided
Select item 208475	NM_005097.4(LGI1):c.124T>C (p.Cys42Arg)	LGI1 (C42R)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial temporal lobe, 1	Gnot provided
Select item 1940293	NM_005097.4(LGI1):c.126C>T (p.Cys42=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 389317	NM_005097.4(LGI1):c.132C>T (p.Ala44=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1364542	NM_005097.4(LGI1):c.133G>A (p.Val45Met)	LGI1 (V45M)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 301655	NM_005097.4(LGI1):c.135G>C (p.Val45=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 5433	NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)	LGI1 (C46R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GPathogenic
Select item 464747	NM_005097.4(LGI1):c.143G>A (p.Cys48Tyr)	LGI1 (C48Y)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	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 1358257	NM_005097.4(LGI1):c.154A>G (p.Asn52Asp)	LGI1 (N52D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 1474771	NM_005097.4(LGI1):c.158C>T (p.Ala53Val)	LGI1 (A53V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
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 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 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 970383	NM_005097.4(LGI1):c.191C>G (p.Thr64Ser)	LGI1 (T64S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 206023	NM_005097.4(LGI1):c.191C>T (p.Thr64Ile)	LGI1 (T64I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +3 more	GUncertain significance
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 1156622	NM_005097.4(LGI1):c.198T>A (p.Pro66=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 573957	NM_005097.4(LGI1):c.205G>A (p.Val69Ile)	LGI1 (V69I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +2 more	GConflicting classifications of pathogenicity
Select item 2043895	NM_005097.4(LGI1):c.206T>C (p.Val69Ala)	LGI1 (V69A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 996744	NM_005097.4(LGI1):c.215+2T>A	LGI1	Single nucleotide variant (non-coding transcript variant +1 more)	Epilepsy, familial temporal lobe, 1	GLikely pathogenic
Select item 641695	NM_005097.4(LGI1):c.215+7C>T	LGI1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 464748	NM_005097.4(LGI1):c.216-55T>C	LGI1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1642445	NM_005097.4(LGI1):c.216-18T>C	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 1615533	NM_005097.4(LGI1):c.216-15T>C	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 1960257	NM_005097.4(LGI1):c.216-12G>A	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2582016	NM_005097.4(LGI1):c.216-4T>G	LGI1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 964617	NM_005097.4(LGI1):c.216-3C>T	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 1983439	NM_005097.4(LGI1):c.219C>G (p.Ser73=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 765433	NM_005097.4(LGI1):c.219C>T (p.Ser73=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
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 2105417	NM_005097.4(LGI1):c.246C>A (p.Ile82=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 1353894	NM_005097.4(LGI1):c.248C>T (p.Ser83Leu)	LGI1 (S83L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 1697299	NM_005097.4(LGI1):c.253G>A (p.Gly85Arg)	LGI1 (G85R)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 1046906	NM_005097.4(LGI1):c.254G>A (p.Gly85Glu)	LGI1 (G85E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 1647815	NM_005097.4(LGI1):c.261T>C (p.Phe87=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 206024	NM_005097.4(LGI1):c.269C>T (p.Thr90Met)	LGI1 (T90M)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 588562	NM_005097.4(LGI1):c.270G>A (p.Thr90=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GLikely benign
Select item 206025	NM_005097.4(LGI1):c.272C>T (p.Pro91Leu)	LGI1 (P91L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +2 more	GUncertain significance
Select item 931902	NM_005097.4(LGI1):c.275C>T (p.Ser92Leu)	LGI1 (S92L)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial temporal lobe, 1	GUncertain significance
Select item 706514	NM_005097.4(LGI1):c.276G>A (p.Ser92=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 1119160	NM_005097.4(LGI1):c.277C>T (p.Leu93=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 1028856	NM_005097.4(LGI1):c.287+1G>A	LGI1	Single nucleotide variant (splice donor variant)	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 1417049	NM_005097.4(LGI1):c.287+3G>A	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 1628201	NM_005097.4(LGI1):c.287+15T>C	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2154917	NM_005097.4(LGI1):c.287+19A>G	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GBenign
Select item 669726	NM_005097.4(LGI1):c.287+287A>G	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683060	NM_005097.4(LGI1):c.288-242A>G	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2159610	NM_005097.4(LGI1):c.288-14C>A	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 2276604	NM_005097.4(LGI1):c.288G>T (p.Leu96Phe)	LGI1 (L96F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 447699	NM_005097.4(LGI1):c.288G>A (p.Leu96=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GConflicting classifications of pathogenicity
Select item 206026	NM_005097.4(LGI1):c.294C>A (p.Phe98Leu)	LGI1 (F98L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1550966	NM_005097.4(LGI1):c.297A>C (p.Thr99=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 284900	NM_005097.4(LGI1):c.297A>G (p.Thr99=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 533335	NM_005097.4(LGI1):c.299C>T (p.Ser100Leu)	LGI1 (S100L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GConflicting classifications of pathogenicity
Select item 761024	NM_005097.4(LGI1):c.300G>A (p.Ser100=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features	GLikely benign
Select item 415036	NM_005097.4(LGI1):c.303C>T (p.Asn101=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GLikely benign
Select item 953364	NM_005097.4(LGI1):c.308T>C (p.Phe103Ser)	LGI1 (F103S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance

<< First< Prev

Page of 6