ClinVar for Gene (Select 11117) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3057164	NM_007046.4(EMILIN1):c.214C>G (p.Leu72Val)	EMILIN1 (L72V)	Single nucleotide variant (missense variant)	EMILIN1-related condition	GBenign
Select item 3052775	NM_007046.4(EMILIN1):c.1622G>A (p.Arg541Gln)	EMILIN1 (R541Q)	Single nucleotide variant (missense variant)	EMILIN1-related condition	GLikely benign
Select item 3052159	NM_007046.4(EMILIN1):c.1145G>A (p.Arg382Gln)	EMILIN1 (R382Q)	Single nucleotide variant (missense variant)	EMILIN1-related condition	GBenign
Select item 3048837	NM_007046.4(EMILIN1):c.-3G>A	EMILIN1	Single nucleotide variant (5 prime UTR variant)	EMILIN1-related condition	GBenign
Select item 3048205	NM_007046.4(EMILIN1):c.171-4A>G	EMILIN1	Single nucleotide variant (intron variant)	EMILIN1-related condition	GLikely benign
Select item 3045515	NM_007046.4(EMILIN1):c.2151C>G (p.Ala717=)	EMILIN1	Single nucleotide variant (synonymous variant)	EMILIN1-related condition	GBenign
Select item 3037730	NM_007046.4(EMILIN1):c.2707G>A (p.Glu903Lys)	EMILIN1 (E903K)	Single nucleotide variant (missense variant)	EMILIN1-related condition	GBenign
Select item 3034911	NM_007046.4(EMILIN1):c.2557+8C>T	EMILIN1	Single nucleotide variant (intron variant)	EMILIN1-related condition	GLikely benign
Select item 3034471	NM_007046.4(EMILIN1):c.2244C>A (p.Arg748=)	EMILIN1	Single nucleotide variant (synonymous variant)	EMILIN1-related condition	GBenign
Select item 3034238	NM_007046.4(EMILIN1):c.1005G>A (p.Glu335=)	EMILIN1	Single nucleotide variant (synonymous variant)	EMILIN1-related condition	GBenign
Select item 2672804	NM_007046.4(EMILIN1):c.921C>T (p.Ala307=)	EMILIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2650762	NM_007046.4(EMILIN1):c.2341G>A (p.Gly781Arg)	EMILIN1 (G781R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2650760	NM_007046.4(EMILIN1):c.937C>T (p.Arg313Cys)	EMILIN1 (R313C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2650758	NM_007046.4(EMILIN1):c.713A>G (p.Asn238Ser)	EMILIN1 (N238S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650757	NM_007046.4(EMILIN1):c.156A>G (p.Pro52=)	EMILIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630527	NM_007046.4(EMILIN1):c.2413C>T (p.His805Tyr)	EMILIN1 (H805Y)	Single nucleotide variant (missense variant)	EMILIN1-related condition	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 2616895	NM_007046.4(EMILIN1):c.352T>G (p.Trp118Gly)	EMILIN1 (W118G)	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 2612020	NM_007046.4(EMILIN1):c.2415C>A (p.His805Gln)	EMILIN1 (H805Q)	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 2601259	NM_007046.4(EMILIN1):c.2365C>T (p.Arg789Trp)	EMILIN1 (R789W)	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 2600689	NM_007046.4(EMILIN1):c.10C>G (p.Arg4Gly)	EMILIN1 (R4G)	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 2557526	NM_007046.4(EMILIN1):c.2330A>G (p.Glu777Gly)	EMILIN1 (E777G)	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 2517365	NM_007046.4(EMILIN1):c.1120G>T (p.Gly374Cys)	EMILIN1 (G374C)	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 2514792	NM_007046.4(EMILIN1):c.2716G>A (p.Val906Met)	EMILIN1 (V906M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514791	NM_007046.4(EMILIN1):c.2578G>C (p.Val860Leu)	EMILIN1 (V860L)	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 2509905	NM_007046.4(EMILIN1):c.2243G>A (p.Arg748His)	EMILIN1 (R748H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494571	NM_007046.4(EMILIN1):c.2827G>A (p.Val943Ile)	EMILIN1, LOC129933355 (V943I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2474402	NM_007046.4(EMILIN1):c.1278G>C (p.Glu426Asp)	EMILIN1 (E426D)	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 2459384	NM_007046.4(EMILIN1):c.1460G>A (p.Gly487Glu)	EMILIN1 (G487E)	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 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2426685	NC_000002.11:g.(?_27275827)_(27457573_?)dup	ABHD1, AGBL5 +10 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	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 2397846	NM_007046.4(EMILIN1):c.2186G>A (p.Arg729His)	EMILIN1 (R729H)	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 2397795	NM_007046.4(EMILIN1):c.431C>T (p.Pro144Leu)	EMILIN1 (P144L)	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 2388144	NM_007046.4(EMILIN1):c.1348G>A (p.Gly450Arg)	EMILIN1 (G450R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2380521	NM_007046.4(EMILIN1):c.613C>A (p.Arg205Ser)	EMILIN1 (R205S)	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 2371248	NM_007046.4(EMILIN1):c.1768G>A (p.Glu590Lys)	EMILIN1 (E590K)	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 2352700	NM_007046.4(EMILIN1):c.2351C>T (p.Ala784Val)	EMILIN1 (A784V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2340216	NM_007046.4(EMILIN1):c.1012C>T (p.Arg338Trp)	EMILIN1 (R338W)	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 2311524	NM_007046.4(EMILIN1):c.1040G>T (p.Arg347Leu)	EMILIN1 (R347L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2303193	NM_007046.4(EMILIN1):c.496G>C (p.Gly166Arg)	EMILIN1 (G166R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302442	NM_007046.4(EMILIN1):c.2408G>A (p.Arg803His)	EMILIN1 (R803H)	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 2299482	NM_007046.4(EMILIN1):c.2434C>T (p.Leu812Phe)	EMILIN1 (L812F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295812	NM_007046.4(EMILIN1):c.2654G>A (p.Gly885Asp)	EMILIN1 (G885D)	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 2289673	NM_007046.4(EMILIN1):c.809G>A (p.Ser270Asn)	EMILIN1 (S270N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281831	NM_007046.4(EMILIN1):c.2336T>A (p.Leu779Gln)	EMILIN1 (L779Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272416	NM_007046.4(EMILIN1):c.2447C>A (p.Ala816Glu)	EMILIN1 (A816E)	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 2259875	NM_007046.4(EMILIN1):c.1750G>A (p.Ala584Thr)	EMILIN1 (A584T)	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 2241738	NM_007046.4(EMILIN1):c.455G>A (p.Arg152His)	EMILIN1 (R152H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2223401	NM_007046.4(EMILIN1):c.997G>A (p.Val333Met)	EMILIN1 (V333M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221799	NM_007046.4(EMILIN1):c.2414A>G (p.His805Arg)	EMILIN1 (H805R)	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 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527981	NM_007046.4(EMILIN1):c.151del (p.Arg51fs)	EMILIN1 (R51fs)	Deletion (frameshift variant)	Arterial tortuosity	GPathogenic
Select item 1527980	NM_007046.4(EMILIN1):c.831dup (p.Ala278fs)	EMILIN1 (A278fs)	Duplication (frameshift variant)	Arterial tortuosity	GPathogenic
Select item 1344492	NM_007046.4(EMILIN1):c.119dup (p.Ser40fs)	EMILIN1 (S40fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1343813	NM_007046.4(EMILIN1):c.1606C>T (p.Gln536Ter)	EMILIN1 (Q536*)	Single nucleotide variant (nonsense)	Arterial tortuosity	GPathogenic
Select item 1343812	NM_007046.4(EMILIN1):c.2457_2482dup (p.Gln828fs)	EMILIN1 (Q828fs)	Duplication (frameshift variant)	Arterial tortuosity	GPathogenic
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 1330199	GRCh37/hg19 2p23.3(chr2:26860458-27346266)x1	EMILIN1, AGBL5 +10 more	Copy number loss	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 1284284	NM_007046.4(EMILIN1):c.2576-8C>A	EMILIN1	Single nucleotide variant (intron variant)	EMILIN1-related condition +1 more	GBenign/Likely benign
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
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 788509	NM_007046.4(EMILIN1):c.802A>G (p.Ser268Gly)	EMILIN1 (S268G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781932	NM_007046.4(EMILIN1):c.2016C>T (p.Gly672=)	EMILIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 729665	NM_007046.4(EMILIN1):c.1607A>G (p.Gln536Arg)	EMILIN1 (Q536R)	Single nucleotide variant (missense variant)	EMILIN1-related condition +1 more	GBenign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
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

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