ClinVar for Gene (Select 3993) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3119189	NM_001031803.2(LLGL2):c.784G>A (p.Glu262Lys)	LLGL2 (E262K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3119187	NM_001031803.2(LLGL2):c.445G>A (p.Glu149Lys)	LLGL2 (E149K)	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 3119184	NM_001031803.2(LLGL2):c.326C>T (p.Ser109Leu)	LLGL2 (S109L)	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 3119182	NM_001031803.2(LLGL2):c.3038G>A (p.Ser1013Asn)	LLGL2 (A999T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119181	NM_001031803.2(LLGL2):c.3032G>C (p.Gly1011Ala)	LLGL2 (G997R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119180	NM_001031803.2(LLGL2):c.3027C>T (p.Ala1009=)	LLGL2 (P995L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3119178	NM_001031803.2(LLGL2):c.3000C>T (p.Ser1000=)	LLGL2 (A986V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3119177	NM_001031803.2(LLGL2):c.2947G>A (p.Asp983Asn)	LLGL2 (D983N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119176	NM_001031803.2(LLGL2):c.2945G>C (p.Ser982Thr)	LLGL2 (S982T)	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 3119174	NM_001031803.2(LLGL2):c.2690G>C (p.Gly897Ala)	LLGL2 (G897A)	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 3119172	NM_001031803.2(LLGL2):c.2564G>A (p.Arg855Gln)	LLGL2 (R855Q)	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 3119170	NM_001031803.2(LLGL2):c.2325G>A (p.Pro775=)	LLGL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3119168	NM_001031803.2(LLGL2):c.2054G>A (p.Arg685Gln)	LLGL2 (R685Q)	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 3119165	NM_001031803.2(LLGL2):c.1859G>A (p.Arg620Gln)	LLGL2 (R620Q)	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 3119163	NM_001031803.2(LLGL2):c.1769T>C (p.Val590Ala)	LLGL2 (V590A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3119161	NM_001031803.2(LLGL2):c.1655A>G (p.Asp552Gly)	LLGL2 (D552G)	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 3119159	NM_001031803.2(LLGL2):c.133C>T (p.Arg45Cys)	LLGL2 (R45C)	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 3063533	GRCh37/hg19 17q25.1(chr17:73281839-73568196)x1	CASKIN2, GRB2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2684855	GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3	CASKIN2, GRB2 +6 more	Copy number gain	not provided	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
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 2616061	NM_001031803.2(LLGL2):c.1973G>A (p.Arg658His)	LLGL2 (R658H)	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 2609387	NM_001031803.2(LLGL2):c.2872G>A (p.Ala958Thr)	LLGL2 (A958T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2592963	NM_001031803.2(LLGL2):c.2531G>A (p.Arg844Gln)	LLGL2 (R844Q)	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 2588211	NM_001031803.2(LLGL2):c.1715G>A (p.Arg572His)	LLGL2 (R572H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
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 2555597	NM_001031803.2(LLGL2):c.934C>T (p.Arg312Cys)	LLGL2 (R312C)	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 2550828	NM_001031803.2(LLGL2):c.5G>C (p.Arg2Thr)	LLGL2 (R2T)	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 2539321	NM_001031803.2(LLGL2):c.319G>A (p.Gly107Arg)	LLGL2 (G107R)	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 2524017	NM_001031803.2(LLGL2):c.1414G>A (p.Asp472Asn)	LLGL2 (D472N)	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 2511494	NM_001031803.2(LLGL2):c.1964G>A (p.Arg655His)	LLGL2 (R655H)	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 2494977	NM_001031803.2(LLGL2):c.1306G>T (p.Asp436Tyr)	LLGL2 (D436Y)	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 2490242	NM_001031803.2(LLGL2):c.2561G>A (p.Arg854His)	LLGL2 (R854H)	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 2474967	NM_001031803.2(LLGL2):c.218A>G (p.Asn73Ser)	LLGL2 (N73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471355	NM_001031803.2(LLGL2):c.3020G>A (p.Arg1007Gln)	LLGL2 (R1007Q +1 more)	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 2469144	NM_001031803.2(LLGL2):c.1009G>C (p.Val337Leu)	LLGL2 (V337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2465567	NM_001031803.2(LLGL2):c.874A>G (p.Arg292Gly)	LLGL2 (R292G)	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 2457898	NM_001031803.2(LLGL2):c.1412C>T (p.Thr471Ile)	LLGL2 (T471I)	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 2454319	NM_001031803.2(LLGL2):c.958G>A (p.Asp320Asn)	LLGL2 (D320N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2405122	NM_001031803.2(LLGL2):c.1427A>G (p.Asn476Ser)	LLGL2 (N476S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2403093	NM_001031803.2(LLGL2):c.2992C>T (p.Arg998Cys)	LLGL2 (R998C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393124	NM_001031803.2(LLGL2):c.2657G>A (p.Arg886His)	LLGL2 (R886H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385251	NM_001031803.2(LLGL2):c.2842G>A (p.Gly948Ser)	LLGL2 (G948S)	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 2357072	NM_001031803.2(LLGL2):c.2936C>T (p.Ala979Val)	LLGL2 (A979V)	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 2346853	NM_001031803.2(LLGL2):c.125C>T (p.Pro42Leu)	LLGL2 (P42L)	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 2341202	NM_001031803.2(LLGL2):c.499C>T (p.Arg167Trp)	LLGL2 (R167W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332882	NM_001031803.2(LLGL2):c.2648C>T (p.Pro883Leu)	LLGL2 (P883L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327586	NM_001031803.2(LLGL2):c.2882C>T (p.Ser961Leu)	LLGL2 (S961L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321029	NM_001031803.2(LLGL2):c.3025G>A (p.Ala1009Thr)	LLGL2 (A1009T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316390	NM_001031803.2(LLGL2):c.2846C>T (p.Ala949Val)	LLGL2 (A949V)	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 2303846	NM_001031803.2(LLGL2):c.2933G>A (p.Arg978His)	LLGL2 (R978H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2294576	NM_001031803.2(LLGL2):c.989C>T (p.Ser330Phe)	LLGL2 (S330F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292552	NM_001031803.2(LLGL2):c.2606A>C (p.Asn869Thr)	LLGL2 (N869T)	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 2284479	NM_001031803.2(LLGL2):c.2183G>A (p.Arg728Gln)	LLGL2 (R728Q)	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 2278167	NM_001031803.2(LLGL2):c.1447G>A (p.Gly483Ser)	LLGL2 (G483S)	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 2272204	NM_001031803.2(LLGL2):c.3047A>G (p.Asn1016Ser)	LLGL2 (M1002V +1 more)	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 2238571	NM_001031803.2(LLGL2):c.856A>G (p.Ile286Val)	LLGL2 (I286V)	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 2232268	NM_001031803.2(LLGL2):c.113T>C (p.Leu38Pro)	LLGL2 (L38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231222	NM_001031803.2(LLGL2):c.2675G>A (p.Arg892Gln)	LLGL2 (R892Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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