"GeneDx"[submitter] AND "ECM1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 7475	NM_004425.4(ECM1):c.157C>T (p.Arg53Ter)	ECM1 (R53*)	Single nucleotide variant (nonsense)	Lipid proteinosis +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 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 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 1245868	NM_004425.4(ECM1):c.709-93C>T	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230769	NM_004425.4(ECM1):c.780G>A (p.Thr260=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 1236041	NM_004425.4(ECM1):c.1304+6_1304+7insCT	ECM1	Insertion (intron variant)	not provided	GBenign
Select item 1246351	NM_004425.4(ECM1):c.1305-25C>T	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265860	NM_004425.4(ECM1):c.1393-182T>C	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283784	NM_004425.4(ECM1):c.1393-147T>G	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227285	NM_004425.4(ECM1):c.1393-142T>C	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263913	NM_004425.4(ECM1):c.1393-114G>A	ECM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278376	NM_004425.4(ECM1):c.*296C>G	ECM1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 27