"Ambry Genetics"[submitter] AND "ECM1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2216944	NM_004425.4(ECM1):c.77C>T (p.Thr26Met)	ECM1 (T26M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2411969	NM_004425.4(ECM1):c.136C>G (p.Pro46Ala)	ECM1 (P46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 745883	NM_004425.4(ECM1):c.386-5T>G	ECM1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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)	Lipid proteinosis +2 more	GUncertain significance
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 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 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 3274419	NM_004425.4(ECM1):c.956G>A (p.Arg319His)	ECM1 (R319H +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 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 3274420	NM_004425.4(ECM1):c.1042T>G (p.Cys348Gly)	ECM1 (C348G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3086974	NM_004425.4(ECM1):c.1372G>T (p.Ala458Ser)	ECM1 (A333S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336713	NM_004425.4(ECM1):c.1403T>G (p.Phe468Cys)	ECM1 (F468C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086975	NM_004425.4(ECM1):c.1417T>C (p.Cys473Arg)	ECM1 (C348R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339358	NM_004425.4(ECM1):c.1429C>T (p.Arg477Cys)	ECM1 (R504C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610557	NM_004425.4(ECM1):c.1564G>C (p.Glu522Gln)	ECM1 (E549Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216342	NM_004425.4(ECM1):c.1600A>G (p.Thr534Ala)	ECM1 (T561A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40