LLGL2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2550828	NM_001031803.2(LLGL2):c.5G>C (p.Arg2Thr)	LLGL2 (R2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550829	NM_001031803.2(LLGL2):c.6G>T (p.Arg2Ser)	LLGL2 (R2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618783	NM_001031803.2(LLGL2):c.37C>T (p.Arg13Trp)	LLGL2 (R13W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351506	NM_001031803.2(LLGL2):c.52C>T (p.Arg18Trp)	LLGL2 (R18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290861	NM_001031803.2(LLGL2):c.53G>A (p.Arg18Gln)	LLGL2 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224642	NM_001031803.2(LLGL2):c.98A>G (p.His33Arg)	LLGL2 (H33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232268	NM_001031803.2(LLGL2):c.113T>C (p.Leu38Pro)	LLGL2 (L38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492962	NM_001031803.2(LLGL2):c.121A>G (p.Ser41Gly)	LLGL2 (S41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346853	NM_001031803.2(LLGL2):c.125C>T (p.Pro42Leu)	LLGL2 (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119159	NM_001031803.2(LLGL2):c.133C>T (p.Arg45Cys)	LLGL2 (R45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119160	NM_001031803.2(LLGL2):c.155G>A (p.Arg52His)	LLGL2 (R52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278507	NM_001031803.2(LLGL2):c.188G>T (p.Gly63Val)	LLGL2 (G63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474967	NM_001031803.2(LLGL2):c.218A>G (p.Asn73Ser)	LLGL2 (N73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290868	NM_001031803.2(LLGL2):c.226G>A (p.Val76Met)	LLGL2 (V76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119175	NM_001031803.2(LLGL2):c.269C>T (p.Thr90Ile)	LLGL2 (T90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119183	NM_001031803.2(LLGL2):c.310G>T (p.Val104Phe)	LLGL2 (V104F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539321	NM_001031803.2(LLGL2):c.319G>A (p.Gly107Arg)	LLGL2 (G107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119184	NM_001031803.2(LLGL2):c.326C>T (p.Ser109Leu)	LLGL2 (S109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119185	NM_001031803.2(LLGL2):c.443C>T (p.Thr148Ile)	LLGL2 (T148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119187	NM_001031803.2(LLGL2):c.445G>A (p.Glu149Lys)	LLGL2 (E149K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409755	NM_001031803.2(LLGL2):c.457G>A (p.Val153Met)	LLGL2 (V153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290873	NM_001031803.2(LLGL2):c.475C>A (p.Pro159Thr)	LLGL2 (P159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341202	NM_001031803.2(LLGL2):c.499C>T (p.Arg167Trp)	LLGL2 (R167W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261819	NM_001031803.2(LLGL2):c.500G>A (p.Arg167Gln)	LLGL2 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380610	NM_001031803.2(LLGL2):c.557G>A (p.Arg186His)	LLGL2 (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404381	NM_001031803.2(LLGL2):c.560T>G (p.Val187Gly)	LLGL2 (V187G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276260	NM_001031803.2(LLGL2):c.686G>A (p.Ser229Asn)	LLGL2 (S229N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308751	NM_001031803.2(LLGL2):c.721G>A (p.Asp241Asn)	LLGL2 (D241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290866	NM_001031803.2(LLGL2):c.724G>A (p.Gly242Ser)	LLGL2 (G242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722304	NM_001031803.2(LLGL2):c.735C>T (p.Leu245=)	LLGL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3119188	NM_001031803.2(LLGL2):c.751G>A (p.Asp251Asn)	LLGL2 (D251N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119189	NM_001031803.2(LLGL2):c.784G>A (p.Glu262Lys)	LLGL2 (E262K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484763	NM_001031803.2(LLGL2):c.796C>A (p.Pro266Thr)	LLGL2 (P266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119190	NM_001031803.2(LLGL2):c.841A>C (p.Lys281Gln)	LLGL2 (K281Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238571	NM_001031803.2(LLGL2):c.856A>G (p.Ile286Val)	LLGL2 (I286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465567	NM_001031803.2(LLGL2):c.874A>G (p.Arg292Gly)	LLGL2 (R292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555597	NM_001031803.2(LLGL2):c.934C>T (p.Arg312Cys)	LLGL2 (R312C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454319	NM_001031803.2(LLGL2):c.958G>A (p.Asp320Asn)	LLGL2 (D320N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294576	NM_001031803.2(LLGL2):c.989C>T (p.Ser330Phe)	LLGL2 (S330F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469144	NM_001031803.2(LLGL2):c.1009G>C (p.Val337Leu)	LLGL2 (V337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290860	NM_001031803.2(LLGL2):c.1025A>G (p.Asp342Gly)	LLGL2 (D342G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512326	NM_001031803.2(LLGL2):c.1118C>T (p.Pro373Leu)	LLGL2 (P373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462298	NM_001031803.2(LLGL2):c.1219G>A (p.Ala407Thr)	LLGL2 (A407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511373	NM_001031803.2(LLGL2):c.1249A>G (p.Thr417Ala)	LLGL2 (T417A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219935	NM_001031803.2(LLGL2):c.1280G>C (p.Ser427Thr)	LLGL2 (S427T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494977	NM_001031803.2(LLGL2):c.1306G>T (p.Asp436Tyr)	LLGL2 (D436Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119158	NM_001031803.2(LLGL2):c.1337C>T (p.Thr446Met)	LLGL2 (T446M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226936	NM_001031803.2(LLGL2):c.1387C>T (p.Leu463Phe)	LLGL2 (L463F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457898	NM_001031803.2(LLGL2):c.1412C>T (p.Thr471Ile)	LLGL2 (T471I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524017	NM_001031803.2(LLGL2):c.1414G>A (p.Asp472Asn)	LLGL2 (D472N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405122	NM_001031803.2(LLGL2):c.1427A>G (p.Asn476Ser)	LLGL2 (N476S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278167	NM_001031803.2(LLGL2):c.1447G>A (p.Gly483Ser)	LLGL2 (G483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290865	NM_001031803.2(LLGL2):c.1450G>A (p.Glu484Lys)	LLGL2 (E484K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290858	NM_001031803.2(LLGL2):c.1456G>A (p.Glu486Lys)	LLGL2 (E486K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785583	NM_001031803.2(LLGL2):c.1464C>T (p.Pro488=)	LLGL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3290862	NM_001031803.2(LLGL2):c.1542G>T (p.Lys514Asn)	LLGL2 (K514N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550754	NM_001031803.2(LLGL2):c.1549G>A (p.Gly517Ser)	LLGL2 (G517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777218	NM_001031803.2(LLGL2):c.1632G>C (p.Gln544His)	LLGL2 (Q544H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3119161	NM_001031803.2(LLGL2):c.1655A>G (p.Asp552Gly)	LLGL2 (D552G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470050	NM_001031803.2(LLGL2):c.1686G>C (p.Glu562Asp)	LLGL2 (E562D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588211	NM_001031803.2(LLGL2):c.1715G>A (p.Arg572His)	LLGL2 (R572H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119162	NM_001031803.2(LLGL2):c.1763C>T (p.Pro588Leu)	LLGL2 (P588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119163	NM_001031803.2(LLGL2):c.1769T>C (p.Val590Ala)	LLGL2 (V590A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119164	NM_001031803.2(LLGL2):c.1802G>A (p.Arg601Gln)	LLGL2 (R601Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588273	NM_001031803.2(LLGL2):c.1856G>T (p.Arg619Leu)	LLGL2 (R619L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119165	NM_001031803.2(LLGL2):c.1859G>A (p.Arg620Gln)	LLGL2 (R620Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777219	NM_001031803.2(LLGL2):c.1875-5C>G	LLGL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777220	NM_001031803.2(LLGL2):c.1915C>T (p.Pro639Ser)	LLGL2 (P639S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3290865	NM_001031803.2(LLGL2):c.1925G>A (p.Arg642His)	LLGL2 (R642H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537319	NM_001031803.2(LLGL2):c.1963C>T (p.Arg655Cys)	LLGL2 (R655C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511494	NM_001031803.2(LLGL2):c.1964G>A (p.Arg655His)	LLGL2 (R655H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345841	NM_001031803.2(LLGL2):c.1966C>T (p.Arg656Trp)	LLGL2 (R656W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616061	NM_001031803.2(LLGL2):c.1973G>A (p.Arg658His)	LLGL2 (R658H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455110	NM_001031803.2(LLGL2):c.1976G>A (p.Arg659Gln)	LLGL2 (R659Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290863	NM_001031803.2(LLGL2):c.1994G>A (p.Arg665Gln)	LLGL2 (R665Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119167	NM_001031803.2(LLGL2):c.2006C>T (p.Pro669Leu)	LLGL2 (P669L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290871	NM_001031803.2(LLGL2):c.2036G>A (p.Gly679Glu)	LLGL2 (G679E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119168	NM_001031803.2(LLGL2):c.2054G>A (p.Arg685Gln)	LLGL2 (R685Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234375	NM_001031803.2(LLGL2):c.2155G>A (p.Ala719Thr)	LLGL2 (A719T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284479	NM_001031803.2(LLGL2):c.2183G>A (p.Arg728Gln)	LLGL2 (R728Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210273	NM_001031803.2(LLGL2):c.2213A>C (p.Asn738Thr)	LLGL2 (N738T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769435	NM_001031803.2(LLGL2):c.2230G>A (p.Ala744Thr)	LLGL2 (A744T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2218484	NM_001031803.2(LLGL2):c.2237C>T (p.Ser746Phe)	LLGL2 (S746F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736089	NM_001031803.2(LLGL2):c.2243G>A (p.Arg748His)	LLGL2 (R748H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2466357	NM_001031803.2(LLGL2):c.2252C>T (p.Pro751Leu)	LLGL2 (P751L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119169	NM_001031803.2(LLGL2):c.2281C>T (p.Arg761Trp)	LLGL2 (R761W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612040	NM_001031803.2(LLGL2):c.2321C>T (p.Ala774Val)	LLGL2 (A774V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119170	NM_001031803.2(LLGL2):c.2325G>A (p.Pro775=)	LLGL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2606362	NM_001031803.2(LLGL2):c.2332G>A (p.Gly778Ser)	LLGL2 (G778S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119171	NM_001031803.2(LLGL2):c.2440G>A (p.Val814Ile)	LLGL2 (V814I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298176	NM_001031803.2(LLGL2):c.2507C>T (p.Thr836Met)	LLGL2 (T836M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592963	NM_001031803.2(LLGL2):c.2531G>A (p.Arg844Gln)	LLGL2 (R844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490242	NM_001031803.2(LLGL2):c.2561G>A (p.Arg854His)	LLGL2 (R854H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119172	NM_001031803.2(LLGL2):c.2564G>A (p.Arg855Gln)	LLGL2 (R855Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562408	NM_001031803.2(LLGL2):c.2569G>A (p.Glu857Lys)	LLGL2 (E857K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290869	NM_001031803.2(LLGL2):c.2574C>G (p.Asp858Glu)	LLGL2 (D858E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119173	NM_001031803.2(LLGL2):c.2579G>T (p.Gly860Val)	LLGL2 (G860V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622925	NM_001031803.2(LLGL2):c.2579G>C (p.Gly860Ala)	LLGL2 (G860A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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