EML6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 2240147	NM_001039753.4(EML6):c.17C>T (p.Ala6Val)	EML6 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275374	NM_001039753.4(EML6):c.60G>T (p.Arg20=)	EML6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3275375	NM_001039753.4(EML6):c.149G>C (p.Arg50Pro)	EML6 (R50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275880	NM_001039753.4(EML6):c.176G>A (p.Gly59Glu)	EML6 (G59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548527	NM_001039753.4(EML6):c.212C>G (p.Pro71Arg)	EML6 (P71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313187	NM_001039753.4(EML6):c.221C>G (p.Thr74Ser)	EML6 (T74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227464	NM_001039753.4(EML6):c.319C>T (p.His107Tyr)	EML6 (H107Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088754	NM_001039753.4(EML6):c.418G>A (p.Gly140Arg)	EML6 (G140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088764	NM_001039753.4(EML6):c.527T>G (p.Phe176Cys)	EML6 (F176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314101	NM_001039753.4(EML6):c.533C>G (p.Thr178Arg)	EML6 (T178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088769	NM_001039753.4(EML6):c.581C>T (p.Thr194Ile)	EML6 (T194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380040	NM_001039753.4(EML6):c.595A>T (p.Thr199Ser)	EML6 (T199S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 775716	NM_001039753.4(EML6):c.660C>T (p.Ile220=)	EML6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3275369	NM_001039753.4(EML6):c.672A>C (p.Lys224Asn)	EML6 (K224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258743	NM_001039753.4(EML6):c.719T>A (p.Ile240Asn)	EML6 (I240N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088770	NM_001039753.4(EML6):c.737G>A (p.Cys246Tyr)	EML6 (C246Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088771	NM_001039753.4(EML6):c.779G>A (p.Arg260Gln)	EML6 (R260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381414	NM_001039753.4(EML6):c.805A>G (p.Ile269Val)	EML6 (I269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376542	NM_001039753.4(EML6):c.816T>G (p.Ile272Met)	EML6 (I272M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088772	NM_001039753.4(EML6):c.883C>T (p.Arg295Cys)	EML6 (R295C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088773	NM_001039753.4(EML6):c.884G>A (p.Arg295His)	EML6 (R295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286823	NM_001039753.4(EML6):c.901C>G (p.Gln301Glu)	EML6 (Q301E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088774	NM_001039753.4(EML6):c.913A>G (p.Ile305Val)	EML6 (I305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088775	NM_001039753.4(EML6):c.932G>A (p.Arg311Gln)	EML6 (R311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088776	NM_001039753.4(EML6):c.976G>T (p.Gly326Cys)	EML6 (G326C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527835	NM_001039753.4(EML6):c.1003C>T (p.Pro335Ser)	EML6 (P335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530049	NM_001039753.4(EML6):c.1019C>T (p.Ala340Val)	EML6 (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310870	NM_001039753.4(EML6):c.1068T>G (p.Asp356Glu)	EML6 (D356E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511891	NM_001039753.4(EML6):c.1118C>A (p.Ala373Asp)	EML6 (A373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358902	NM_001039753.4(EML6):c.1136C>G (p.Ser379Cys)	EML6 (S379C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375157	NM_001039753.4(EML6):c.1181G>A (p.Arg394Gln)	EML6 (R394Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088730	NM_001039753.4(EML6):c.1256A>T (p.Asp419Val)	EML6 (D419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339369	NM_001039753.4(EML6):c.1364C>T (p.Thr455Met)	EML6 (T455M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373896	NM_001039753.4(EML6):c.1424G>A (p.Arg475Gln)	EML6 (R475Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217559	NM_001039753.4(EML6):c.1453C>A (p.Pro485Thr)	EML6 (P485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275379	NM_001039753.4(EML6):c.1486C>G (p.Pro496Ala)	EML6 (P496A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088731	NM_001039753.4(EML6):c.1510A>G (p.Lys504Glu)	EML6 (K504E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339197	NM_001039753.4(EML6):c.1646G>T (p.Cys549Phe)	EML6 (C549F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522677	NM_001039753.4(EML6):c.1648C>G (p.Leu550Val)	EML6 (L550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281224	NM_001039753.4(EML6):c.1676A>G (p.Tyr559Cys)	EML6 (Y559C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088732	NM_001039753.4(EML6):c.1732G>C (p.Val578Leu)	EML6 (V578L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088733	NM_001039753.4(EML6):c.1757A>G (p.His586Arg)	EML6 (H586R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088734	NM_001039753.4(EML6):c.1801G>A (p.Gly601Ser)	EML6 (G601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529230	NM_001039753.4(EML6):c.1820C>A (p.Pro607His)	EML6 (P607H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088735	NM_001039753.4(EML6):c.1861T>G (p.Ser621Ala)	EML6 (S621A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088736	NM_001039753.4(EML6):c.1882G>A (p.Glu628Lys)	EML6 (E628K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088737	NM_001039753.4(EML6):c.1928G>A (p.Arg643His)	EML6 (R643H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088738	NM_001039753.4(EML6):c.1944A>C (p.Glu648Asp)	EML6 (E648D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712264	NM_001039753.4(EML6):c.1986C>T (p.His662=)	EML6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3275365	NM_001039753.4(EML6):c.2017C>T (p.Pro673Ser)	EML6 (P673S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288213	NM_001039753.4(EML6):c.2069G>A (p.Cys690Tyr)	EML6 (C690Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599412	NM_001039753.4(EML6):c.2086T>C (p.Tyr696His)	EML6 (Y696H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221906	NM_001039753.4(EML6):c.2141A>G (p.Asn714Ser)	EML6 (N714S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275370	NM_001039753.4(EML6):c.2144G>A (p.Arg715Gln)	EML6 (R715Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249777	NM_001039753.4(EML6):c.2181T>A (p.Asp727Glu)	EML6 (D727E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088739	NM_001039753.4(EML6):c.2222A>G (p.Tyr741Cys)	EML6 (Y741C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406853	NM_001039753.4(EML6):c.2242G>C (p.Gly748Arg)	EML6 (G748R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483434	NM_001039753.4(EML6):c.2323G>C (p.Val775Leu)	EML6 (V775L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088740	NM_001039753.4(EML6):c.2337T>G (p.Asp779Glu)	EML6 (D779E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307808	NM_001039753.4(EML6):c.2369T>C (p.Val790Ala)	EML6 (V790A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461972	NM_001039753.4(EML6):c.2389A>G (p.Ser797Gly)	EML6 (S797G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479771	NM_001039753.4(EML6):c.2411A>G (p.Lys804Arg)	EML6 (K804R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650936	NM_001039753.4(EML6):c.2421A>G (p.Glu807=)	EML6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3088741	NM_001039753.4(EML6):c.2429C>T (p.Ala810Val)	EML6 (A810V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273056	NM_001039753.4(EML6):c.2431A>C (p.Thr811Pro)	EML6 (T811P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275376	NM_001039753.4(EML6):c.2435C>A (p.Thr812Lys)	EML6 (T812K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411992	NM_001039753.4(EML6):c.2479C>T (p.His827Tyr)	EML6 (H827Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088742	NM_001039753.4(EML6):c.2498T>C (p.Val833Ala)	EML6 (V833A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445997	NM_001039753.4(EML6):c.2528G>T (p.Trp843Leu)	EML6 (W843L)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2303827	NM_001039753.4(EML6):c.2536G>A (p.Ala846Thr)	EML6 (A846T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275371	NM_001039753.4(EML6):c.2552C>T (p.Thr851Ile)	EML6 (T851I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088743	NM_001039753.4(EML6):c.2555C>A (p.Ser852Tyr)	EML6 (S852Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236471	NM_001039753.4(EML6):c.2563G>A (p.Gly855Arg)	EML6 (G855R)	Single nucleotide variant (missense variant)	High myopia	GLikely pathogenic
Select item 3088744	NM_001039753.4(EML6):c.2567C>A (p.Thr856Asn)	EML6 (T856N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235770	NM_001039753.4(EML6):c.2576G>T (p.Ser859Ile)	EML6 (S859I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317484	NM_001039753.4(EML6):c.2651C>T (p.Thr884Ile)	EML6 (T884I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495231	NM_001039753.4(EML6):c.2663T>G (p.Phe888Cys)	EML6 (F888C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238651	NM_001039753.4(EML6):c.2680C>G (p.Leu894Val)	EML6 (L894V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539583	NM_001039753.4(EML6):c.2716G>C (p.Val906Leu)	EML6 (V906L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088745	NM_001039753.4(EML6):c.2813C>G (p.Thr938Ser)	EML6 (T938S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600503	NM_001039753.4(EML6):c.2822T>C (p.Ile941Thr)	EML6 (I941T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607763	NM_001039753.4(EML6):c.2837T>G (p.Leu946Trp)	EML6 (L946W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605592	NM_001039753.4(EML6):c.2845A>G (p.Ser949Gly)	EML6 (S949G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493844	NM_001039753.4(EML6):c.2858T>C (p.Leu953Ser)	EML6 (L953S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491791	NM_001039753.4(EML6):c.2881A>G (p.Ile961Val)	EML6 (I961V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536830	NM_001039753.4(EML6):c.2890A>G (p.Ile964Val)	EML6 (I964V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275372	NM_001039753.4(EML6):c.2929A>G (p.Asn977Asp)	EML6 (N977D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327541	NM_001039753.4(EML6):c.2968A>C (p.Thr990Pro)	EML6 (T990P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522970	NM_001039753.4(EML6):c.3163T>G (p.Leu1055Val)	EML6 (L1055V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546576	NM_001039753.4(EML6):c.3169G>A (p.Val1057Ile)	EML6 (V1057I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275367	NM_001039753.4(EML6):c.3278A>T (p.Asp1093Val)	EML6 (D1093V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088747	NM_001039753.4(EML6):c.3281C>T (p.Thr1094Met)	EML6 (T1094M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088748	NM_001039753.4(EML6):c.3331A>T (p.Asn1111Tyr)	EML6 (N1111Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224794	NM_001039753.4(EML6):c.3332A>G (p.Asn1111Ser)	EML6 (N1111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397595	NM_001039753.4(EML6):c.3333C>A (p.Asn1111Lys)	EML6 (N1111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550324	NM_001039753.4(EML6):c.3337C>T (p.Leu1113Phe)	EML6 (L1113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088749	NM_001039753.4(EML6):c.3341C>T (p.Thr1114Ile)	EML6 (T1114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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