EMILIN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
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 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 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 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 3048837	NM_007046.4(EMILIN1):c.-3G>A	EMILIN1	Single nucleotide variant (5 prime UTR variant)	EMILIN1-related disorder	GBenign
Select item 3088598	NM_007046.4(EMILIN1):c.7C>A (p.Pro3Thr)	EMILIN1 (P3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600689	NM_007046.4(EMILIN1):c.10C>G (p.Arg4Gly)	EMILIN1 (R4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396820	NM_007046.4(EMILIN1):c.47C>T (p.Thr16Met)	EMILIN1 (T16M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208756	NM_007046.4(EMILIN1):c.64G>A (p.Ala22Thr)	EMILIN1 (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088587	NM_007046.4(EMILIN1):c.101G>T (p.Gly34Val)	EMILIN1 (G34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344492	NM_007046.4(EMILIN1):c.119dup (p.Ser40fs)	EMILIN1 (S40fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1527981	NM_007046.4(EMILIN1):c.151del (p.Arg51fs)	EMILIN1 (R51fs)	Deletion (frameshift variant)	Arterial tortuosity	GPathogenic
Select item 2230282	NM_007046.4(EMILIN1):c.154C>A (p.Pro52Thr)	EMILIN1 (P52T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650757	NM_007046.4(EMILIN1):c.156A>G (p.Pro52=)	EMILIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235791	NM_007046.4(EMILIN1):c.163C>A (p.Arg55Ser)	EMILIN1 (R55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048205	NM_007046.4(EMILIN1):c.171-4A>G	EMILIN1	Single nucleotide variant (intron variant)	EMILIN1-related disorder	GLikely benign
Select item 2383518	NM_007046.4(EMILIN1):c.187G>A (p.Val63Met)	EMILIN1 (V63M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 219343	NM_007046.4(EMILIN1):c.197G>A (p.Arg66Gln)	EMILIN1 (R66Q)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3057164	NM_007046.4(EMILIN1):c.214C>G (p.Leu72Val)	EMILIN1 (L72V)	Single nucleotide variant (missense variant)	EMILIN1-related disorder	GBenign
Select item 3275289	NM_007046.4(EMILIN1):c.263G>T (p.Gly88Val)	EMILIN1 (G88V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459475	NM_007046.4(EMILIN1):c.275G>A (p.Cys92Tyr)	EMILIN1 (C92Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616895	NM_007046.4(EMILIN1):c.352T>G (p.Trp118Gly)	EMILIN1 (W118G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218890	NM_007046.4(EMILIN1):c.376G>A (p.Gly126Ser)	EMILIN1 (G126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600866	NM_007046.4(EMILIN1):c.407C>T (p.Ala136Val)	EMILIN1 (A136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397795	NM_007046.4(EMILIN1):c.431C>T (p.Pro144Leu)	EMILIN1 (P144L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536948	NM_007046.4(EMILIN1):c.434G>A (p.Arg145Gln)	EMILIN1 (R145Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264422	NM_007046.4(EMILIN1):c.440T>C (p.Leu147Pro)	EMILIN1 (L147P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241738	NM_007046.4(EMILIN1):c.455G>A (p.Arg152His)	EMILIN1 (R152H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606414	NM_007046.4(EMILIN1):c.461A>G (p.Asn154Ser)	EMILIN1 (N154S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275282	NM_007046.4(EMILIN1):c.485G>A (p.Ser162Asn)	EMILIN1 (S162N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303193	NM_007046.4(EMILIN1):c.496G>C (p.Gly166Arg)	EMILIN1 (G166R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380521	NM_007046.4(EMILIN1):c.613C>A (p.Arg205Ser)	EMILIN1 (R205S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 916454	NM_007046.4(EMILIN1):c.680C>T (p.Ala227Val)	EMILIN1 (A227V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650758	NM_007046.4(EMILIN1):c.713A>G (p.Asn238Ser)	EMILIN1 (N238S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1711105	NM_007046.4(EMILIN1):c.748C>T (p.Arg250Cys)	EMILIN1	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 10	GPathogenic
Select item 3088597	NM_007046.4(EMILIN1):c.751G>T (p.Val251Phe)	EMILIN1 (V251F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788509	NM_007046.4(EMILIN1):c.802A>G (p.Ser268Gly)	EMILIN1 (S268G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2289673	NM_007046.4(EMILIN1):c.809G>A (p.Ser270Asn)	EMILIN1 (S270N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527980	NM_007046.4(EMILIN1):c.831dup (p.Ala278fs)	EMILIN1 (A278fs)	Duplication (frameshift variant)	Arterial tortuosity-bone fragility syndrome +1 more	GPathogenic
Select item 3275285	NM_007046.4(EMILIN1):c.875G>A (p.Arg292Gln)	EMILIN1 (R292Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402108	NM_007046.4(EMILIN1):c.910G>A (p.Val304Met)	EMILIN1 (V304M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088599	NM_007046.4(EMILIN1):c.919G>C (p.Ala307Pro)	EMILIN1 (A307P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672804	NM_007046.4(EMILIN1):c.921C>T (p.Ala307=)	EMILIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650759	NM_007046.4(EMILIN1):c.931G>A (p.Gly311Ser)	EMILIN1 (G311S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650760	NM_007046.4(EMILIN1):c.937C>T (p.Arg313Cys)	EMILIN1 (R313C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2223401	NM_007046.4(EMILIN1):c.997G>A (p.Val333Met)	EMILIN1 (V333M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034238	NM_007046.4(EMILIN1):c.1005G>A (p.Glu335=)	EMILIN1	Single nucleotide variant (synonymous variant)	EMILIN1-related disorder	GBenign
Select item 2487081	NM_007046.4(EMILIN1):c.1006C>T (p.Arg336Trp)	EMILIN1 (R336W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340216	NM_007046.4(EMILIN1):c.1012C>T (p.Arg338Trp)	EMILIN1 (R338W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311524	NM_007046.4(EMILIN1):c.1040G>T (p.Arg347Leu)	EMILIN1 (R347L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517365	NM_007046.4(EMILIN1):c.1120G>T (p.Gly374Cys)	EMILIN1 (G374C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514780	NM_007046.4(EMILIN1):c.1120G>A (p.Gly374Ser)	EMILIN1 (G374S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516811	NM_007046.4(EMILIN1):c.1144C>T (p.Arg382Trp)	EMILIN1 (R382W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052159	NM_007046.4(EMILIN1):c.1145G>A (p.Arg382Gln)	EMILIN1 (R382Q)	Single nucleotide variant (missense variant)	EMILIN1-related disorder	GBenign
Select item 3275284	NM_007046.4(EMILIN1):c.1171G>T (p.Ala391Ser)	EMILIN1 (A391S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373466	NM_007046.4(EMILIN1):c.1171G>A (p.Ala391Thr)	EMILIN1 (A391T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650761	NM_007046.4(EMILIN1):c.1172C>A (p.Ala391Glu)	EMILIN1 (A391E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2344806	NM_007046.4(EMILIN1):c.1189C>T (p.Pro397Ser)	EMILIN1 (P397S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353291	NM_007046.4(EMILIN1):c.1192C>G (p.Pro398Ala)	EMILIN1 (P398A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251315	NM_007046.4(EMILIN1):c.1217G>T (p.Arg406Leu)	EMILIN1 (R406L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614856	NM_007046.4(EMILIN1):c.1244A>C (p.Asn415Thr)	EMILIN1 (N415T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088588	NM_007046.4(EMILIN1):c.1246T>A (p.Ser416Thr)	EMILIN1 (S416T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088589	NM_007046.4(EMILIN1):c.1250C>T (p.Thr417Ile)	EMILIN1 (T417I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275290	NM_007046.4(EMILIN1):c.1262C>T (p.Ser421Leu)	EMILIN1 (S421L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474402	NM_007046.4(EMILIN1):c.1278G>C (p.Glu426Asp)	EMILIN1 (E426D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088591	NM_007046.4(EMILIN1):c.1304T>C (p.Leu435Pro)	EMILIN1 (L435P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275295	NM_007046.4(EMILIN1):c.1325C>T (p.Ala442Val)	EMILIN1 (A442V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275288	NM_007046.4(EMILIN1):c.1328G>A (p.Arg443Gln)	EMILIN1 (R443Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388144	NM_007046.4(EMILIN1):c.1348G>A (p.Gly450Arg)	EMILIN1 (G450R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319448	NM_007046.4(EMILIN1):c.1379T>A (p.Leu460Gln)	EMILIN1 (L460Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459384	NM_007046.4(EMILIN1):c.1460G>A (p.Gly487Glu)	EMILIN1 (G487E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250645	NM_007046.4(EMILIN1):c.1571C>T (p.Ala524Val)	EMILIN1 (A524V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3088592	NM_007046.4(EMILIN1):c.1582C>T (p.Arg528Trp)	EMILIN1 (R528W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343813	NM_007046.4(EMILIN1):c.1606C>T (p.Gln536Ter)	EMILIN1 (Q536*)	Single nucleotide variant (nonsense)	Arterial tortuosity-bone fragility syndrome +1 more	GPathogenic
Select item 729665	NM_007046.4(EMILIN1):c.1607A>G (p.Gln536Arg)	EMILIN1 (Q536R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3052775	NM_007046.4(EMILIN1):c.1622G>A (p.Arg541Gln)	EMILIN1 (R541Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3065945	NM_007046.4(EMILIN1):c.1697G>A (p.Arg566Gln)	EMILIN1 (R566Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 10	GUncertain significance
Select item 2309843	NM_007046.4(EMILIN1):c.1733G>A (p.Gly578Glu)	EMILIN1 (G578E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259875	NM_007046.4(EMILIN1):c.1750G>A (p.Ala584Thr)	EMILIN1 (A584T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275296	NM_007046.4(EMILIN1):c.1753T>C (p.Cys585Arg)	EMILIN1 (C585R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371248	NM_007046.4(EMILIN1):c.1768G>A (p.Glu590Lys)	EMILIN1 (E590K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339836	NM_007046.4(EMILIN1):c.1781G>A (p.Arg594His)	EMILIN1 (R594H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588085	NM_007046.4(EMILIN1):c.1802G>A (p.Arg601His)	EMILIN1 (R601H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617263	NM_007046.4(EMILIN1):c.1808C>T (p.Ser603Phe)	EMILIN1 (S603F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397833	NM_007046.4(EMILIN1):c.1828C>T (p.Arg610Trp)	EMILIN1 (R610W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291057	NM_007046.4(EMILIN1):c.1859G>T (p.Gly620Val)	EMILIN1 (G620V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088593	NM_007046.4(EMILIN1):c.1943C>T (p.Ser648Phe)	EMILIN1 (S648F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456050	NM_007046.4(EMILIN1):c.1963A>G (p.Ser655Gly)	EMILIN1 (S655G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781932	NM_007046.4(EMILIN1):c.2016C>T (p.Gly672=)	EMILIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3088594	NM_007046.4(EMILIN1):c.2051G>A (p.Arg684His)	EMILIN1 (R684H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301174	NM_007046.4(EMILIN1):c.2092G>C (p.Glu698Gln)	EMILIN1 (E698Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045515	NM_007046.4(EMILIN1):c.2151C>G (p.Ala717=)	EMILIN1	Single nucleotide variant (synonymous variant)	EMILIN1-related disorder	GBenign
Select item 3275287	NM_007046.4(EMILIN1):c.2152G>A (p.Gly718Ser)	EMILIN1 (G718S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397846	NM_007046.4(EMILIN1):c.2186G>A (p.Arg729His)	EMILIN1 (R729H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509905	NM_007046.4(EMILIN1):c.2243G>A (p.Arg748His)	EMILIN1 (R748H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034471	NM_007046.4(EMILIN1):c.2244C>A (p.Arg748=)	EMILIN1	Single nucleotide variant (synonymous variant)	EMILIN1-related disorder	GBenign

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