"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ECM1"[g - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 777102	NM_004425.4(ECM1):c.130G>A (p.Ala44Thr)	ECM1 (A44T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 744770	NM_004425.4(ECM1):c.144C>A (p.Ser48=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	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 1034085	NM_004425.4(ECM1):c.233del (p.Pro78fs)	ECM1 (P78fs +1 more)	Deletion (frameshift variant)	not provided +1 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 736513	NM_004425.4(ECM1):c.282C>T (p.Ala94=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 797176	NM_004425.4(ECM1):c.714G>A (p.Glu238=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 787216	NM_004425.4(ECM1):c.792G>A (p.Glu264=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 445438	NM_004425.4(ECM1):c.1083+10C>T	ECM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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	GBenign
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 709803	NM_004425.4(ECM1):c.1242C>T (p.Ile414=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 737232	NM_004425.4(ECM1):c.1343G>A (p.Arg448His)	ECM1 (R323H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 799395	NM_004425.4(ECM1):c.1512G>A (p.Leu504=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729430	NM_004425.4(ECM1):c.1548C>T (p.Asn516=)	ECM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, PRCC +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance

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Items: 21