ClinVar for Gene (Select 400954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3275378	NM_001039753.4(EML6):c.4318A>T (p.Thr1440Ser)	EML6 (T1440S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275377	NM_001039753.4(EML6):c.4543C>T (p.Arg1515Cys)	EML6 (R1515C)	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 3275375	NM_001039753.4(EML6):c.149G>C (p.Arg50Pro)	EML6 (R50P)	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 3275372	NM_001039753.4(EML6):c.2929A>G (p.Asn977Asp)	EML6 (N977D)	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 3275370	NM_001039753.4(EML6):c.2144G>A (p.Arg715Gln)	EML6 (R715Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3275368	NM_001039753.4(EML6):c.3482T>C (p.Ile1161Thr)	EML6 (I1161T)	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 3275366	NM_001039753.4(EML6):c.5290G>A (p.Gly1764Arg)	EML6 (G1764R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3236471	NM_001039753.4(EML6):c.2563G>A (p.Gly855Arg)	EML6 (G855R)	Single nucleotide variant (missense variant)	High myopia	GLikely pathogenic
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 3088775	NM_001039753.4(EML6):c.932G>A (p.Arg311Gln)	EML6 (R311Q)	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 3088773	NM_001039753.4(EML6):c.884G>A (p.Arg295His)	EML6 (R295H)	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 3088771	NM_001039753.4(EML6):c.779G>A (p.Arg260Gln)	EML6 (R260Q)	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 3088769	NM_001039753.4(EML6):c.581C>T (p.Thr194Ile)	EML6 (T194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088768	NM_001039753.4(EML6):c.5783C>T (p.Ala1928Val)	EML6 (A1928V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088767	NM_001039753.4(EML6):c.5579C>G (p.Thr1860Ser)	EML6 (T1860S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088766	NM_001039753.4(EML6):c.5388C>A (p.Phe1796Leu)	EML6 (F1796L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088765	NM_001039753.4(EML6):c.5300G>A (p.Arg1767Gln)	EML6 (R1767Q)	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 3088763	NM_001039753.4(EML6):c.5093C>G (p.Ser1698Cys)	EML6 (S1698C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088762	NM_001039753.4(EML6):c.4867G>A (p.Gly1623Ser)	EML6 (G1623S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088761	NM_001039753.4(EML6):c.4855A>T (p.Thr1619Ser)	EML6 (T1619S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088760	NM_001039753.4(EML6):c.4717G>A (p.Ala1573Thr)	EML6 (A1573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088759	NM_001039753.4(EML6):c.4715G>C (p.Gly1572Ala)	EML6 (G1572A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088758	NM_001039753.4(EML6):c.4681G>A (p.Val1561Met)	EML6 (V1561M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088757	NM_001039753.4(EML6):c.4353A>T (p.Lys1451Asn)	EML6 (K1451N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088756	NM_001039753.4(EML6):c.4321C>G (p.Pro1441Ala)	EML6 (P1441A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088755	NM_001039753.4(EML6):c.4217G>C (p.Ser1406Thr)	EML6 (S1406T)	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 3088753	NM_001039753.4(EML6):c.4130G>A (p.Arg1377Gln)	EML6, LOC126806221 (R1377Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088752	NM_001039753.4(EML6):c.3826A>C (p.Ser1276Arg)	EML6 (S1276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088751	NM_001039753.4(EML6):c.3617C>G (p.Ser1206Cys)	EML6 (S1206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088750	NM_001039753.4(EML6):c.3382A>C (p.Ile1128Leu)	EML6 (I1128L)	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
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 3088747	NM_001039753.4(EML6):c.3281C>T (p.Thr1094Met)	EML6 (T1094M)	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 3088744	NM_001039753.4(EML6):c.2567C>A (p.Thr856Asn)	EML6 (T856N)	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 3088742	NM_001039753.4(EML6):c.2498T>C (p.Val833Ala)	EML6 (V833A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3088740	NM_001039753.4(EML6):c.2337T>G (p.Asp779Glu)	EML6 (D779E)	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 3088738	NM_001039753.4(EML6):c.1944A>C (p.Glu648Asp)	EML6 (E648D)	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 3088736	NM_001039753.4(EML6):c.1882G>A (p.Glu628Lys)	EML6 (E628K)	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 3088734	NM_001039753.4(EML6):c.1801G>A (p.Gly601Ser)	EML6 (G601S)	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 3088732	NM_001039753.4(EML6):c.1732G>C (p.Val578Leu)	EML6 (V578L)	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 3088730	NM_001039753.4(EML6):c.1256A>T (p.Asp419Val)	EML6 (D419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650940	NM_001039753.4(EML6):c.4839C>T (p.Gly1613=)	EML6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650939	NM_001039753.4(EML6):c.4545C>T (p.Arg1515=)	EML6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650938	NM_001039753.4(EML6):c.4107T>C (p.Phe1369=)	EML6, LOC126806221	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650937	NM_001039753.4(EML6):c.3510A>G (p.Ile1170Met)	EML6 (I1170M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650936	NM_001039753.4(EML6):c.2421A>G (p.Glu807=)	EML6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620919	NM_001039753.4(EML6):c.5392G>C (p.Asp1798His)	EML6 (D1798H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611272	NM_001039753.4(EML6):c.5317A>C (p.Ile1773Leu)	EML6 (I1773L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609544	NM_001039753.4(EML6):c.4015A>G (p.Ser1339Gly)	EML6 (S1339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609017	NM_001039753.4(EML6):c.3683A>C (p.His1228Pro)	EML6 (H1228P)	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 2600503	NM_001039753.4(EML6):c.2822T>C (p.Ile941Thr)	EML6 (I941T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599413	NM_001039753.4(EML6):c.5788G>A (p.Val1930Met)	EML6 (V1930M)	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 2560155	NM_001039753.4(EML6):c.4964G>A (p.Gly1655Glu)	EML6 (G1655E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555000	NM_001039753.4(EML6):c.3898A>G (p.Arg1300Gly)	EML6 (R1300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551838	NM_001039753.4(EML6):c.4249A>G (p.Ile1417Val)	EML6 (I1417V)	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 2548527	NM_001039753.4(EML6):c.212C>G (p.Pro71Arg)	EML6 (P71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547235	NM_001039753.4(EML6):c.4400A>G (p.Tyr1467Cys)	EML6 (Y1467C)	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 2541281	NM_001039753.4(EML6):c.4286G>A (p.Arg1429Lys)	EML6 (R1429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540194	NM_001039753.4(EML6):c.3446A>C (p.Gln1149Pro)	EML6 (Q1149P)	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 2536830	NM_001039753.4(EML6):c.2890A>G (p.Ile964Val)	EML6 (I964V)	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 2529230	NM_001039753.4(EML6):c.1820C>A (p.Pro607His)	EML6 (P607H)	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 2522970	NM_001039753.4(EML6):c.3163T>G (p.Leu1055Val)	EML6 (L1055V)	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 2521367	NM_001039753.4(EML6):c.4981G>A (p.Val1661Met)	EML6 (V1661M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520857	NM_001039753.4(EML6):c.5359G>A (p.Val1787Ile)	EML6 (V1787I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520470	NM_001039753.4(EML6):c.5405G>A (p.Gly1802Asp)	EML6 (G1802D)	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 2496078	NM_001039753.4(EML6):c.3994G>C (p.Val1332Leu)	EML6 (V1332L)	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 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 2483434	NM_001039753.4(EML6):c.2323G>C (p.Val775Leu)	EML6 (V775L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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