ClinVar for Gene (Select 2009) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359059	NM_004434.3(EML1):c.841C>A (p.Pro281Thr)	EML1 (P268T +2 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GUncertain significance
Select item 3356792	NM_004434.3(EML1):c.67+6G>C	EML1	Single nucleotide variant (intron variant)	EML1-related disorder	GLikely benign
Select item 3275325	NM_004434.3(EML1):c.884C>T (p.Ser295Leu)	EML1 (S282L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275324	NM_004434.3(EML1):c.739G>A (p.Val247Ile)	EML1 (V247I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275323	NM_004434.3(EML1):c.2111G>A (p.Cys704Tyr)	EML1 (C660Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275321	NM_004434.3(EML1):c.202A>G (p.Ile68Val)	EML1 (I55V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275320	NM_004434.3(EML1):c.2185G>A (p.Val729Ile)	EML1 (V685I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275319	NM_004434.3(EML1):c.167A>G (p.Lys56Arg)	EML1 (K43R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244102	NC_000014.8:g.(?_99375322)_(101142891_?)dup	BCL11B, BEGAIN +13 more	Duplication	not provided	GUncertain significance
Select item 3088650	NM_004434.3(EML1):c.935C>T (p.Thr312Ile)	EML1 (T299I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088649	NM_004434.3(EML1):c.76G>A (p.Ala26Thr)	EML1 (A26T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088648	NM_004434.3(EML1):c.470G>A (p.Arg157His)	EML1 (R144H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088647	NM_004434.3(EML1):c.2437C>T (p.Arg813Cys)	EML1, LOC126862047 (R800C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088646	NM_004434.3(EML1):c.2275G>A (p.Asp759Asn)	EML1, LOC126862047 (D746N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088645	NM_004434.3(EML1):c.1898G>A (p.Arg633Gln)	EML1 (R620Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088644	NM_004434.3(EML1):c.1600G>T (p.Asp534Tyr)	EML1 (D521Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088643	NM_004434.3(EML1):c.1456T>A (p.Ser486Thr)	EML1 (S473T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088642	NM_004434.3(EML1):c.1349G>A (p.Arg450Gln)	EML1 (R450Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3088641	NM_004434.3(EML1):c.1319A>G (p.Asn440Ser)	EML1 (N427S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 3057263	NM_004434.3(EML1):c.1398T>C (p.Leu466=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related disorder	GLikely benign
Select item 3052796	NM_004434.3(EML1):c.726G>A (p.Pro242=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related disorder	GLikely benign
Select item 3052392	NM_004434.3(EML1):c.519-9T>C	EML1	Single nucleotide variant (intron variant)	EML1-related disorder	GLikely benign
Select item 3046559	NM_004434.3(EML1):c.253A>C (p.Arg85=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related disorder	GLikely benign
Select item 3045998	NM_004434.3(EML1):c.250+6C>T	EML1	Single nucleotide variant (intron variant)	EML1-related disorder	GLikely benign
Select item 2918422	NM_004434.3(EML1):c.1731C>T (p.Pro577=)	EML1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903752	NM_004434.3(EML1):c.813C>T (p.Asn271=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899628	NM_004434.3(EML1):c.1803C>T (p.Val601=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890871	NM_004434.3(EML1):c.2274C>T (p.Asp758=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870876	NM_004434.3(EML1):c.383+11A>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869955	NM_004434.3(EML1):c.1941C>G (p.Asp647Glu)	EML1 (D603E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868594	NM_004434.3(EML1):c.1491G>A (p.Thr497=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2868211	NM_004434.3(EML1):c.2322+12G>A	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864634	NM_004434.3(EML1):c.2121C>T (p.Val707=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863330	NM_004434.3(EML1):c.2095+18del	EML1	Deletion (intron variant)	not provided	GBenign
Select item 2805191	NM_004434.3(EML1):c.1820+10T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803817	NM_004434.3(EML1):c.1887C>T (p.Leu629=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775579	NM_004434.3(EML1):c.1495-14A>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754922	NM_004434.3(EML1):c.753_765del (p.Ser252fs)	EML1 (S271fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2718759	NM_004434.3(EML1):c.2271C>T (p.Gly757=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715668	NM_004434.3(EML1):c.251-8T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709683	NM_004434.3(EML1):c.1975G>A (p.Gly659Arg)	EML1 (G615R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705091	NM_004434.3(EML1):c.1494+11A>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2681257	NM_004434.3(EML1):c.951C>T (p.His317=)	EML1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2644517	NM_004434.3(EML1):c.2438G>A (p.Arg813His)	EML1, LOC126862047 (R769H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644516	NM_004434.3(EML1):c.2313G>A (p.Ser771=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644515	NM_004434.3(EML1):c.2310C>T (p.Cys770=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644514	NM_004434.3(EML1):c.924G>A (p.Trp308Ter)	EML1 (W295* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2644513	NM_004434.3(EML1):c.882A>G (p.Thr294=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635040	NM_004434.3(EML1):c.575G>A (p.Arg192His)	EML1 (R179H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2620643	NM_004434.3(EML1):c.2369T>C (p.Val790Ala)	EML1, LOC126862047 (V746A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578330	GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1	BEGAIN, DEGS2 +25 more	Copy number loss	Motor developmental delay due to 14q32.2 paternally expressed gene defect	GPathogenic
Select item 2558357	NM_004434.3(EML1):c.1466G>T (p.Gly489Val)	EML1 (G476V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553766	NM_004434.3(EML1):c.1589C>G (p.Thr530Ser)	EML1 (T530S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548526	NM_004434.3(EML1):c.121C>G (p.Leu41Val)	EML1 (L41V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529738	NM_004434.3(EML1):c.1727G>A (p.Arg576His)	EML1 (R563H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425114	NC_000014.8:g.(?_100259814)_(100406449_?)dup	EML1	Duplication	not provided	GUncertain significance
Select item 2416720	NM_004434.3(EML1):c.875C>T (p.Ala292Val)	EML1 (A279V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415815	NM_004434.3(EML1):c.885G>A (p.Ser295=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2378877	NM_004434.3(EML1):c.293A>G (p.Asn98Ser)	EML1 (N98S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366027	NM_004434.3(EML1):c.2062G>A (p.Val688Met)	EML1 (V707M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2343111	NM_004434.3(EML1):c.1022A>G (p.Asn341Ser)	EML1 (N341S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323291	NM_004434.3(EML1):c.638A>G (p.Lys213Arg)	EML1 (K232R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312327	NM_004434.3(EML1):c.2321G>T (p.Arg774Met)	EML1, LOC126862047 (R793M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308390	NM_004434.3(EML1):c.151G>A (p.Asp51Asn)	EML1 (D51N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303643	NM_004434.3(EML1):c.173C>G (p.Ala58Gly)	EML1 (A45G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298481	NM_004434.3(EML1):c.1568G>A (p.Arg523Gln)	EML1 (R510Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277696	NM_004434.3(EML1):c.463C>T (p.Arg155Trp)	EML1 (R155W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261623	NM_004434.3(EML1):c.1699G>A (p.Ala567Thr)	EML1 (A567T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229243	NM_004434.3(EML1):c.139A>C (p.Met47Leu)	EML1 (M47L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215658	NM_004434.3(EML1):c.1490C>T (p.Thr497Met)	EML1 (T484M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211408	NM_004434.3(EML1):c.878G>A (p.Gly293Asp)	EML1 (G312D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205655	NM_004434.3(EML1):c.1217A>G (p.Asn406Ser)	EML1 (N393S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188654	NM_004434.3(EML1):c.207T>C (p.Thr69=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184299	NM_004434.3(EML1):c.1053T>C (p.His351=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173911	NM_004434.3(EML1):c.2409C>T (p.Gly803=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169839	NM_004434.3(EML1):c.384-9C>T	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2161771	NM_004434.3(EML1):c.222C>T (p.Ala74=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134081	NM_004434.3(EML1):c.195G>A (p.Arg65=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133786	NM_004434.3(EML1):c.1715_1735delinsAGAC (p.Ala572fs)	EML1 (A559fs +2 more)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 2131125	NM_004434.3(EML1):c.1722T>A (p.Gly574=)	EML1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2128551	NM_004434.3(EML1):c.2007+7G>A	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105552	NM_004434.3(EML1):c.1230A>G (p.Gly410=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069158	NM_004434.3(EML1):c.1225C>G (p.Gln409Glu)	EML1 (Q428E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2069082	NM_004434.3(EML1):c.2205A>G (p.Glu735=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040530	NM_004434.3(EML1):c.937T>C (p.Leu313=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038113	NM_004434.3(EML1):c.2323-19C>T	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036241	NM_004434.3(EML1):c.1035G>A (p.Val345=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032071	NM_004434.3(EML1):c.340C>G (p.Pro114Ala)	EML1 (P114A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007311	NM_004434.3(EML1):c.2150A>C (p.Glu717Ala)	EML1 (E673A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005391	NM_004434.3(EML1):c.1031C>T (p.Ala344Val)	EML1 (A344V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003773	NM_004434.3(EML1):c.1340-5T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994638	NM_004434.3(EML1):c.1602C>T (p.Asp534=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985650	NM_004434.3(EML1):c.828-10C>A	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976521	NM_004434.3(EML1):c.518+14A>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971201	NM_004434.3(EML1):c.677+15T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971098	NM_004434.3(EML1):c.1752+16A>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971007	NM_004434.3(EML1):c.1820+16C>T	EML1	Single nucleotide variant (intron variant)	not provided	GBenign

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