ECM1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 149773	GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3	ADAMTSL4, ADAMTSL4-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 1227603	NC_000001.11:g.150507897G>T	ECM1	Single nucleotide variant	not provided	GBenign
Select item 1207898	NC_000001.11:g.150507997G>A	ECM1	Single nucleotide variant	not provided	GLikely benign
Select item 1265058	NC_000001.11:g.150508095G>A	ECM1	Single nucleotide variant	not provided	GBenign
Select item 1237946	NM_004425.4(ECM1):c.-97G>A	ECM1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2231309	NM_004425.4(ECM1):c.19G>A (p.Ala7Thr)	ECM1 (A7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1271709	NM_004425.4(ECM1):c.71-269C>T	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230177	NM_004425.4(ECM1):c.71-111C>T	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206950	NM_004425.4(ECM1):c.71-25C>T	ECM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2216944	NM_004425.4(ECM1):c.77C>T (p.Thr26Met)	ECM1 (T26M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 222949	NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer)	ECM1	Indel (nonsense)	Lipid proteinosis	Gnot provided
Select item 2242588	NM_004425.4(ECM1):c.118G>A (p.Glu40Lys)	ECM1 (E40K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030795	NM_004425.4(ECM1):c.122-3T>G	ECM1	Single nucleotide variant (intron variant)	Lipid proteinosis	GUncertain significance
Select item 3058755	NM_004425.4(ECM1):c.129C>T (p.Tyr43=)	ECM1	Single nucleotide variant (synonymous variant)	ECM1-related disorder	GLikely benign
Select item 777102	NM_004425.4(ECM1):c.130G>A (p.Ala44Thr)	ECM1 (A44T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2411969	NM_004425.4(ECM1):c.136C>G (p.Pro46Ala)	ECM1 (P46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930258	NM_004425.4(ECM1):c.142del (p.Ser48fs)	ECM1 (S48fs)	Deletion (frameshift variant)	Lipid proteinosis	GLikely pathogenic
Select item 744770	NM_004425.4(ECM1):c.144C>A (p.Ser48=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3051759	NM_004425.4(ECM1):c.146C>A (p.Pro49Gln)	ECM1 (P49Q)	Single nucleotide variant (missense variant)	ECM1-related disorder	GLikely benign
Select item 789433	NM_004425.4(ECM1):c.147A>C (p.Pro49=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 7475	NM_004425.4(ECM1):c.157C>T (p.Arg53Ter)	ECM1 (R53*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1238731	NM_004425.4(ECM1):c.223+17A>G	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180253	NM_004425.4(ECM1):c.223+40G>T	ECM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2255361	NM_004425.4(ECM1):c.223+68T>C	ECM1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2228605	NM_004425.4(ECM1):c.229C>T (p.Pro77Ser)	ECM1 (P77S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1034085	NM_004425.4(ECM1):c.233del (p.Pro78fs)	ECM1 (P78fs +1 more)	Deletion (frameshift variant)	ECM1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 772686	NM_004425.4(ECM1):c.231C>T (p.Pro77=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2479864	NM_004425.4(ECM1):c.232C>T (p.Pro78Ser)	ECM1 (P78S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633555	NM_004425.4(ECM1):c.240_241del (p.Gln81fs)	ECM1 (Q108fs +1 more)	Microsatellite (frameshift variant)	ECM1-related disorder	GLikely pathogenic
Select item 3086977	NM_004425.4(ECM1):c.254C>T (p.Pro85Leu)	ECM1 (P85L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736513	NM_004425.4(ECM1):c.282C>T (p.Ala94=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2346595	NM_004425.4(ECM1):c.304G>A (p.Val102Met)	ECM1 (V102M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787215	NM_004425.4(ECM1):c.366C>T (p.His122=)	ECM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1258875	NM_004425.4(ECM1):c.385+80G>A	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234818	NM_004425.4(ECM1):c.386-116A>C	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745883	NM_004425.4(ECM1):c.386-5T>G	ECM1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1222321	NM_004425.4(ECM1):c.389C>T (p.Thr130Met)	ECM1 (T130M +1 more)	Single nucleotide variant (missense variant)	Lipid proteinosis +1 more	GBenign
Select item 3086978	NM_004425.4(ECM1):c.395C>T (p.Ala132Val)	ECM1 (A132V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527212	NM_004425.4(ECM1):c.436A>T (p.Asn146Tyr)	ECM1 (N173Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7477	NM_004425.4(ECM1):c.480G>A (p.Trp160Ter)	ECM1 (W160* +1 more)	Single nucleotide variant (nonsense)	Lipid proteinosis	GPathogenic
Select item 3086979	NM_004425.4(ECM1):c.490C>G (p.Leu164Val)	ECM1 (L191V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635267	NM_004425.4(ECM1):c.499T>G (p.Phe167Val)	ECM1 (F167V +1 more)	Single nucleotide variant (missense variant)	ECM1-related disorder	GUncertain significance
Select item 7476	NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)	ECM1 (F167I +1 more)	Single nucleotide variant (missense variant)	Lipid proteinosis	GLikely pathogenic
Select item 222945	NM_004425.4(ECM1):c.506dup (p.Gly170fs)	ECM1 (G170fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2547013	NM_004425.4(ECM1):c.503C>A (p.Pro168His)	ECM1 (P195H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086980	NM_004425.4(ECM1):c.505C>T (p.Pro169Ser)	ECM1 (P169S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 916209	NM_004425.4(ECM1):c.505C>G (p.Pro169Ala)	ECM1 (P169A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 222947	NM_004425.4(ECM1):c.507del (p.Arg171fs)	ECM1 (R171fs +1 more)	Deletion (frameshift variant)	ECM1-related disorder	GPathogenic
Select item 2522777	NM_004425.4(ECM1):c.512G>T (p.Arg171Leu)	ECM1 (R198L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225407	NM_004425.4(ECM1):c.512G>A (p.Arg171Gln)	ECM1 (R171Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803965	NM_004425.4(ECM1):c.542_543insAACCAAATCTGAA (p.Cys181Ter)	ECM1 (C181* +1 more)	Insertion (nonsense)	Lipid proteinosis	GPathogenic
Select item 3064523	NM_004425.4(ECM1):c.629_630delinsCT (p.Leu210Pro)	ECM1 (L210P +1 more)	Indel (missense variant)	Lipid proteinosis	GUncertain significance
Select item 2326125	NM_004425.4(ECM1):c.644T>C (p.Ile215Thr)	ECM1 (I215T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3086981	NM_004425.4(ECM1):c.655C>T (p.Arg219Cys)	ECM1 (R246C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 222948	NM_004425.4(ECM1):c.658T>G (p.Cys220Gly)	ECM1 (C220G +1 more)	Single nucleotide variant (missense variant)	Lipid proteinosis	Gnot provided
Select item 1245868	NM_004425.4(ECM1):c.709-93C>T	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 797176	NM_004425.4(ECM1):c.714G>A (p.Glu238=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 222946	NM_004425.4(ECM1):c.727C>T (p.Arg243Ter)	ECM1 (R243* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	Gnot provided
Select item 1184441	NM_004425.4(ECM1):c.742G>T (p.Glu248Ter)	ECM1 (E248* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	Gnot provided
Select item 3065006	NM_004425.4(ECM1):c.749C>T (p.Ser250Leu)	ECM1 (S250L +1 more)	Single nucleotide variant (missense variant +1 more)	Lipid proteinosis	GUncertain significance
Select item 987237	NM_004425.4(ECM1):c.760C>T (p.Arg254Ter)	ECM1 (R254* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2639162	NM_004425.4(ECM1):c.777C>T (p.Cys259=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1230769	NM_004425.4(ECM1):c.780G>A (p.Thr260=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	ECM1-related disorder +1 more	GBenign
Select item 787216	NM_004425.4(ECM1):c.792G>A (p.Glu264=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 3034620	NM_004425.4(ECM1):c.796C>T (p.Arg266Trp)	ECM1 (R266W +1 more)	Single nucleotide variant (missense variant +1 more)	ECM1-related disorder	GLikely benign
Select item 1192520	NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr)	ECM1 (C269Y +1 more)	Single nucleotide variant (missense variant +1 more)	Lipid proteinosis	GPathogenic/Likely pathogenic
Select item 3053380	NM_004425.4(ECM1):c.807C>T (p.Cys269=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	ECM1-related disorder	GLikely benign
Select item 222944	NM_004425.4(ECM1):c.826C>T (p.Gln276Ter)	ECM1 (Q276* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	Gnot provided
Select item 2345681	NM_004425.4(ECM1):c.845G>A (p.Arg282Gln)	ECM1 (R282Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086982	NM_004425.4(ECM1):c.869A>G (p.Asp290Gly)	ECM1 (D290G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2549801	NM_004425.4(ECM1):c.878C>T (p.Ser293Leu)	ECM1 (S293L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086983	NM_004425.4(ECM1):c.955C>T (p.Arg319Cys)	ECM1 (R319C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086984	NM_004425.4(ECM1):c.967C>T (p.Arg323Cys)	ECM1 (R323C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245304	NM_004425.4(ECM1):c.970A>C (p.Asn324His)	ECM1 (N351H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086986	NM_004425.4(ECM1):c.995A>G (p.Gln332Arg)	ECM1 (Q332R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 748781	NM_004425.4(ECM1):c.1002G>A (p.Glu334=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 7471	NM_004425.4(ECM1):c.1019del (p.Gln340fs)	ECM1 (Q340fs +1 more)	Deletion (intron variant +1 more)	Lipid proteinosis	GLikely pathogenic
Select item 2356320	NM_004425.4(ECM1):c.1033T>A (p.Phe345Ile)	ECM1 (F345I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 7472	NM_004425.4(ECM1):c.1036C>T (p.Gln346Ter)	ECM1 (Q346* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	GPathogenic
Select item 3086971	NM_004425.4(ECM1):c.1049G>A (p.Arg350His)	ECM1 (R350H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064079	NM_004425.4(ECM1):c.1051C>T (p.Gln351Ter)	ECM1 (Q351* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	GLikely pathogenic
Select item 445438	NM_004425.4(ECM1):c.1083+10C>T	ECM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1266309	NM_004425.4(ECM1):c.1083+94_1083+95del	ECM1	Deletion (intron variant)	not provided	GBenign
Select item 1235442	NM_004425.4(ECM1):c.1083+248C>G	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200906	NM_004425.4(ECM1):c.1084-197C>A	ECM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3086972	NM_004425.4(ECM1):c.1094C>A (p.Thr365Asn)	ECM1 (T365N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 376771	NM_004425.4(ECM1):c.1100A>T (p.Asp367Val)	ECM1 (D367V +2 more)	Single nucleotide variant (missense variant)	Lipid proteinosis +1 more	GBenign/Likely benign
Select item 788943	NM_004425.4(ECM1):c.1114C>T (p.Arg372Trp)	ECM1 (R372W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 711736	NM_004425.4(ECM1):c.1154G>A (p.Arg385His)	ECM1 (R385H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3086973	NM_004425.4(ECM1):c.1159C>T (p.Pro387Ser)	ECM1 (P262S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687218	NM_004425.4(ECM1):c.1209_1210insTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTTCC (p.Asn404Ter)	ECM1 (N279* +2 more)	Insertion (nonsense)	Lipid proteinosis	GPathogenic
Select item 2458936	NM_004425.4(ECM1):c.1220G>A (p.Arg407Gln)	ECM1 (R282Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709803	NM_004425.4(ECM1):c.1242C>T (p.Ile414=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1255367	NM_004425.4(ECM1):c.1243G>A (p.Gly415Ser)	ECM1 (G290S +2 more)	Single nucleotide variant (missense variant)	Lipid proteinosis	GBenign
Select item 2585237	NM_004425.4(ECM1):c.1246C>T (p.Arg416Ter)	ECM1 (R443* +2 more)	Single nucleotide variant (nonsense)	Lipid proteinosis	GPathogenic/Likely pathogenic
Select item 1526253	NM_004425.4(ECM1):c.1287_1288del (p.Arg430fs)	ECM1 (R305fs +2 more)	Deletion (frameshift variant)	Lipid proteinosis	GPathogenic
Select item 1236041	NM_004425.4(ECM1):c.1304+6_1304+7insCT	ECM1	Insertion (intron variant)	ECM1-related disorder +1 more	GBenign
Select item 3064070	NM_004425.4(ECM1):c.1304+33_*300del	ECM1	Deletion (splice acceptor variant +1 more)	Lipid proteinosis	GPathogenic
Select item 7473	NM_004425.4(ECM1):c.1304+35_*302del	ECM1	Deletion (splice acceptor variant +1 more)	Lipid proteinosis	GPathogenic

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