ClinVar for Gene (Select 163175) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 125

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362460	NM_139284.3(LGI4):c.830G>C (p.Gly277Ala)	LGI4 (G277A)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GUncertain significance
Select item 3290555	NM_139284.3(LGI4):c.382C>T (p.His128Tyr)	LGI4 (H128Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290554	NM_139284.3(LGI4):c.142G>C (p.Val48Leu)	LGI4 (V48L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290552	NM_139284.3(LGI4):c.1600G>A (p.Asp534Asn)	LGI4 (D534N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290551	NM_139284.3(LGI4):c.883G>A (p.Ala295Thr)	LGI4 (A295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290550	NM_139284.3(LGI4):c.370C>T (p.Arg124Cys)	LGI4 (R124C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3242075	NM_139284.3(LGI4):c.1259_1266delinsCACACCAG (p.Asp420_Phe422delinsAlaHisGln)	LGI4	Indel (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GUncertain significance
Select item 3118535	NM_139284.3(LGI4):c.916A>G (p.Thr306Ala)	LGI4 (T306A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118534	NM_139284.3(LGI4):c.844G>C (p.Val282Leu)	LGI4 (V282L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118533	NM_139284.3(LGI4):c.585G>T (p.Gln195His)	LGI4 (Q195H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118532	NM_139284.3(LGI4):c.557C>T (p.Ala186Val)	LGI4 (A186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3118531	NM_139284.3(LGI4):c.494G>A (p.Arg165His)	LGI4 (R165H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3057365	NM_139284.3(LGI4):c.793+7C>T	LGI4	Single nucleotide variant (intron variant)	LGI4-related disorder	GLikely benign
Select item 3056940	NM_139284.3(LGI4):c.19CTG[4] (p.Leu11del)	LGI4 (L11del)	Microsatellite	LGI4-related disorder	GLikely benign
Select item 3048785	NM_139284.3(LGI4):c.36T>G (p.Ala12=)	LGI4	Single nucleotide variant (synonymous variant)	LGI4-related disorder	GLikely benign
Select item 3048139	NM_139284.3(LGI4):c.795G>A (p.Ala265=)	LGI4	Single nucleotide variant (synonymous variant)	LGI4-related disorder	GLikely benign
Select item 3035544	NM_139284.3(LGI4):c.144C>G (p.Val48=)	LGI4	Single nucleotide variant (synonymous variant)	LGI4-related disorder	GLikely benign
Select item 3034818	NM_139284.3(LGI4):c.1314C>T (p.Asp438=)	LGI4	Single nucleotide variant (synonymous variant)	LGI4-related disorder	GLikely benign
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2662764	NM_139284.3(LGI4):c.1560C>G (p.Cys520Trp)	LGI4 (C520W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649714	NM_139284.3(LGI4):c.714A>G (p.Ala238=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598003	NM_139284.3(LGI4):c.434G>A (p.Arg145Gln)	LGI4 (R145Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530713	NM_139284.3(LGI4):c.1313A>T (p.Asp438Val)	LGI4 (D438V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2529094	NM_139284.3(LGI4):c.1570C>T (p.Pro524Ser)	LGI4 (P524S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515356	NM_139284.3(LGI4):c.934C>T (p.Arg312Trp)	LGI4 (R312W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515255	NM_139284.3(LGI4):c.155C>T (p.Pro52Leu)	LGI4 (P52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464800	NM_139284.3(LGI4):c.1454A>T (p.Lys485Met)	LGI4 (K485M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463571	NM_139284.3(LGI4):c.1039C>T (p.Arg347Cys)	LGI4 (R347C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444314	NM_139284.3(LGI4):c.1087C>T (p.Arg363Trp)	LGI4 (R363W)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GUncertain significance
Select item 2444227	NM_139284.3(LGI4):c.774_778dup (p.Glu260fs)	LGI4 (E260fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 2441163	NM_139284.3(LGI4):c.312C>A (p.Tyr104Ter)	LGI4 (Y104*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 2433428	NM_139284.3(LGI4):c.632T>A (p.Leu211Gln)	LGI4 (L211Q)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GUncertain significance
Select item 2433427	NM_139284.3(LGI4):c.242T>A (p.Leu81His)	LGI4 (L81H)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GUncertain significance
Select item 2433426	NM_139284.3(LGI4):c.1250C>A (p.Ala417Asp)	LGI4 (A417D)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2410220	NM_139284.3(LGI4):c.703A>G (p.Ile235Val)	LGI4 (I235V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393610	NM_139284.3(LGI4):c.469G>A (p.Gly157Arg)	LGI4 (G157R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358967	NM_139284.3(LGI4):c.1363G>A (p.Val455Ile)	LGI4 (V455I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346310	NM_139284.3(LGI4):c.556G>A (p.Ala186Thr)	LGI4 (A186T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2344953	NM_139284.3(LGI4):c.47T>G (p.Val16Gly)	LGI4 (V16G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326169	NM_139284.3(LGI4):c.49G>A (p.Val17Met)	LGI4 (V17M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325952	NM_139284.3(LGI4):c.142G>A (p.Val48Ile)	LGI4 (V48I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2318842	NM_139284.3(LGI4):c.760C>G (p.Leu254Val)	LGI4 (L254V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311699	NM_139284.3(LGI4):c.766C>T (p.Arg256Cys)	LGI4 (R256C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303911	NM_139284.3(LGI4):c.554G>A (p.Cys185Tyr)	LGI4 (C185Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279432	NM_139284.3(LGI4):c.1178C>T (p.Thr393Ile)	LGI4 (T393I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248828	NM_139284.3(LGI4):c.955G>A (p.Asp319Asn)	LGI4 (D319N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205063	NM_139284.3(LGI4):c.759C>G (p.Ser253Arg)	LGI4 (S253R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1324662	NM_139284.3(LGI4):c.61A>T (p.Arg21Ter)	LGI4 (R21*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +2 more	GConflicting classifications of pathogenicity
Select item 1300107	NM_139284.3(LGI4):c.834G>C (p.Pro278=)	LGI4	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GBenign
Select item 1294812	NC_000019.10:g.35135445C>T	LGI4	Single nucleotide variant	not provided	GBenign
Select item 1294811	NM_139284.3(LGI4):c.1300-151G>C	LGI4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294809	NM_139284.3(LGI4):c.1300-53C>G	LGI4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281124	NM_139284.3(LGI4):c.1300-134C>T	LGI4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277858	NM_139284.3(LGI4):c.1299+221A>G	LGI4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274253	NM_139284.3(LGI4):c.185C>T (p.Thr62Met)	LGI4 (T62M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1272831	NM_139284.3(LGI4):c.*102G>A	LGI4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1272294	NM_139284.3(LGI4):c.1395G>A (p.Gln465=)	LGI4	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GBenign
Select item 1269217	NM_139284.3(LGI4):c.314+49C>T	LGI4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267409	NM_139284.3(LGI4):c.*81C>T	LGI4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1266397	NM_139284.3(LGI4):c.1299+52T>C	LGI4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265831	NC_000019.10:g.35135469G>A	LGI4	Single nucleotide variant	not provided	GBenign
Select item 1252057	NM_139284.3(LGI4):c.961G>A (p.Glu321Lys)	LGI4 (E321K)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 1247836	NM_139284.3(LGI4):c.*10C>T	LGI4	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GBenign
Select item 1247001	NM_139284.3(LGI4):c.1203A>G (p.Thr401=)	LGI4	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GBenign
Select item 1243576	NM_139284.3(LGI4):c.1396C>T (p.Leu466=)	LGI4	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GBenign
Select item 1243198	NM_139284.3(LGI4):c.459-33G>A	LGI4	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GBenign
Select item 1234428	NM_139284.3(LGI4):c.170+97C>T	LGI4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228463	NC_000019.10:g.35135420T>G	LGI4	Single nucleotide variant	not provided	GBenign
Select item 1224603	NC_000019.10:g.35135421T>A	LGI4	Single nucleotide variant	not provided	GBenign
Select item 1222791	NM_139284.3(LGI4):c.242+47G>A	LGI4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221533	NM_139284.3(LGI4):c.*11G>A	LGI4	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GBenign
Select item 1179838	NM_139284.3(LGI4):c.456T>C (p.His152=)	LGI4	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GBenign
Select item 1032441	NM_139284.3(LGI4):c.493C>T (p.Arg165Cys)	LGI4 (R165C)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GUncertain significance
Select item 1032440	NM_139284.3(LGI4):c.17T>A (p.Ile6Asn)	LGI4 (I6N)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GUncertain significance
Select item 974841	NM_139284.3(LGI4):c.263_265del (p.Phe88del)	LGI4 (F88del)	Deletion (inframe_deletion)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 974840	NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter)	LGI4 (C424*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 800799	NM_139284.3(LGI4):c.834del (p.Ser279fs)	LGI4 (S279fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 799487	NM_139284.3(LGI4):c.1413C>T (p.Ser471=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 798283	NM_139284.3(LGI4):c.1095G>C (p.Thr365=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797390	NM_139284.3(LGI4):c.386+8C>T	LGI4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787138	NM_139284.3(LGI4):c.1180G>A (p.Gly394Ser)	LGI4 (G394S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777527	NM_139284.3(LGI4):c.630G>A (p.Glu210=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 762454	NM_139284.3(LGI4):c.495C>T (p.Arg165=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756567	NM_139284.3(LGI4):c.1179C>G (p.Thr393=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734212	NM_139284.3(LGI4):c.294C>A (p.Gly98=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733247	NM_139284.3(LGI4):c.279C>T (p.Asp93=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733246	NM_139284.3(LGI4):c.766C>A (p.Arg256Ser)	LGI4 (R256S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721517	NM_139284.3(LGI4):c.1212C>T (p.Pro404=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718884	NM_139284.3(LGI4):c.777C>G (p.Pro259=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717495	NM_139284.3(LGI4):c.1286T>C (p.Ile429Thr)	LGI4 (I429T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713540	NM_139284.3(LGI4):c.726C>T (p.Ala242=)	LGI4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692278	NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)	LGI4 (L344Q)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692277	NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)	LGI4 (W168C)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 687741	GRCh37/hg19 19q13.12(chr19:35548527-35772471)x3	FAM187B, FXYD1 +7 more	Copy number gain	not provided	GUncertain significance

<< First< Prev

Page of 2