ClinVar for Gene (Select 80131) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121014	NM_025061.6(LRRC8E):c.911C>T (p.Thr304Ile)	LRRC8E (T175I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121013	NM_025061.6(LRRC8E):c.899G>C (p.Cys300Ser)	LRRC8E (C171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121011	NM_025061.6(LRRC8E):c.848T>C (p.Leu283Pro)	LRRC8E (L283P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121010	NM_025061.6(LRRC8E):c.633G>T (p.Glu211Asp)	LRRC8E (E211D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121008	NM_025061.6(LRRC8E):c.488C>T (p.Thr163Ile)	LRRC8E (T163I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121007	NM_025061.6(LRRC8E):c.2318C>T (p.Ala773Val)	LRRC8E (A644V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121006	NM_025061.6(LRRC8E):c.229A>C (p.Ile77Leu)	LRRC8E (I77L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121005	NM_025061.6(LRRC8E):c.2291T>C (p.Leu764Pro)	LRRC8E (L764P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121003	NM_025061.6(LRRC8E):c.1730G>A (p.Ser577Asn)	LRRC8E (S448N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121002	NM_025061.6(LRRC8E):c.1639G>A (p.Gly547Arg)	LRRC8E (G418R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121001	NM_025061.6(LRRC8E):c.1627C>T (p.Arg543Trp)	LRRC8E (R414W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121000	NM_025061.6(LRRC8E):c.1334A>G (p.Glu445Gly)	LRRC8E (E316G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120999	NM_025061.6(LRRC8E):c.1280C>T (p.Pro427Leu)	LRRC8E (P298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120998	NM_025061.6(LRRC8E):c.1247C>T (p.Ala416Val)	LRRC8E (A287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120997	NM_025061.6(LRRC8E):c.1106T>C (p.Leu369Pro)	LRRC8E (L369P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624281	NM_025061.6(LRRC8E):c.1219C>T (p.Leu407Phe)	LRRC8E (L278F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607621	NM_025061.6(LRRC8E):c.2077C>T (p.Pro693Ser)	LRRC8E (P564S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598276	NM_025061.6(LRRC8E):c.1901C>T (p.Thr634Met)	LRRC8E (T634M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593110	NM_025061.6(LRRC8E):c.827A>G (p.Tyr276Cys)	LRRC8E (Y147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592364	NM_025061.6(LRRC8E):c.600G>T (p.Glu200Asp)	LRRC8E (E71D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569242	NM_025061.6(LRRC8E):c.2213C>T (p.Ser738Leu)	LRRC8E (S609L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547430	NM_025061.6(LRRC8E):c.356C>T (p.Pro119Leu)	LRRC8E (P119L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533293	NM_025061.6(LRRC8E):c.658G>A (p.Val220Ile)	LRRC8E (V91I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532847	NM_025061.6(LRRC8E):c.1339A>G (p.Ile447Val)	LRRC8E (I318V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530635	NM_025061.6(LRRC8E):c.422G>A (p.Gly141Asp)	LRRC8E (G141D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521887	NM_025061.6(LRRC8E):c.2245C>T (p.Arg749Cys)	LRRC8E (R620C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512108	NM_025061.6(LRRC8E):c.977C>A (p.Thr326Asn)	LRRC8E (T326N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508049	NM_025061.6(LRRC8E):c.745G>A (p.Asp249Asn)	LRRC8E (D120N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507734	NM_025061.6(LRRC8E):c.1010G>A (p.Arg337Gln)	LRRC8E (R208Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493936	NM_025061.6(LRRC8E):c.1382A>C (p.His461Pro)	LRRC8E (H332P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484217	NM_025061.6(LRRC8E):c.1255C>A (p.Leu419Met)	LRRC8E (L290M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483134	NM_025061.6(LRRC8E):c.760A>G (p.Met254Val)	LRRC8E (M125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466259	NM_025061.6(LRRC8E):c.1900A>G (p.Thr634Ala)	LRRC8E (T505A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457079	NM_025061.6(LRRC8E):c.1250G>A (p.Gly417Asp)	LRRC8E (G417D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 2409096	NM_025061.6(LRRC8E):c.511G>A (p.Gly171Arg)	LRRC8E (G42R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407674	NM_025061.6(LRRC8E):c.1538A>G (p.His513Arg)	LRRC8E (H384R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406841	NM_025061.6(LRRC8E):c.1480G>A (p.Glu494Lys)	LRRC8E (E365K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389294	NM_025061.6(LRRC8E):c.85G>A (p.Glu29Lys)	LRRC8E (E29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380508	NM_025061.6(LRRC8E):c.1571G>A (p.Arg524Gln)	LRRC8E (R395Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379256	NM_025061.6(LRRC8E):c.1519C>T (p.Arg507Trp)	LRRC8E (R507W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377899	NM_025061.6(LRRC8E):c.1888C>T (p.Arg630Trp)	LRRC8E (R501W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377852	NM_025061.6(LRRC8E):c.2266C>T (p.Arg756Cys)	LRRC8E (R756C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369040	NM_025061.6(LRRC8E):c.584C>T (p.Pro195Leu)	LRRC8E (P195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357543	NM_025061.6(LRRC8E):c.2164C>T (p.Arg722Cys)	LRRC8E (R593C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356264	NM_025061.6(LRRC8E):c.206G>A (p.Cys69Tyr)	LRRC8E (C69Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344822	NM_025061.6(LRRC8E):c.1889G>A (p.Arg630Gln)	LRRC8E (R630Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339954	NM_025061.6(LRRC8E):c.1711C>T (p.Arg571Cys)	LRRC8E (R442C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334805	NM_025061.6(LRRC8E):c.21C>G (p.Phe7Leu)	LRRC8E (F7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327918	NM_025061.6(LRRC8E):c.545G>A (p.Arg182Gln)	LRRC8E (R53Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325703	NM_025061.6(LRRC8E):c.1346A>G (p.Asp449Gly)	LRRC8E (D320G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324942	NM_025061.6(LRRC8E):c.1520G>A (p.Arg507Gln)	LRRC8E (R378Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295777	NM_025061.6(LRRC8E):c.2224G>C (p.Gly742Arg)	LRRC8E (G742R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290821	NM_025061.6(LRRC8E):c.1754G>T (p.Arg585Leu)	LRRC8E (R456L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278283	NM_025061.6(LRRC8E):c.2174G>A (p.Arg725Gln)	LRRC8E (R725Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261337	NM_025061.6(LRRC8E):c.1489C>T (p.Arg497Cys)	LRRC8E (R497C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257774	NM_025061.6(LRRC8E):c.1543G>A (p.Glu515Lys)	LRRC8E (E386K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257110	NM_025061.6(LRRC8E):c.1628G>A (p.Arg543Gln)	LRRC8E (R543Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246540	NM_025061.6(LRRC8E):c.2077C>A (p.Pro693Thr)	LRRC8E (P564T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237701	NM_025061.6(LRRC8E):c.1814G>A (p.Gly605Asp)	LRRC8E (G476D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237415	NM_025061.6(LRRC8E):c.623C>T (p.Ala208Val)	LRRC8E (A79V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226101	NM_025061.6(LRRC8E):c.2339C>T (p.Thr780Met)	LRRC8E (T651M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213228	NM_025061.6(LRRC8E):c.251T>C (p.Leu84Pro)	LRRC8E (L84P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212761	NM_025061.6(LRRC8E):c.1948C>T (p.Arg650Trp)	LRRC8E (R521W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	CCL25, MCOLN1 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 791349	NM_025061.6(LRRC8E):c.1852C>T (p.Arg618Cys)	LRRC8E (R489C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777051	NM_025061.6(LRRC8E):c.1452C>A (p.Asp484Glu)	LRRC8E (D484E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770458	NM_025061.6(LRRC8E):c.1297G>A (p.Val433Ile)	LRRC8E (V433I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 207892	NM_025061.6(LRRC8E):c.1777G>A (p.Gly593Arg)	LRRC8E (G593R +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75