C0023795[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 7477	NM_004425.4(ECM1):c.480G>A (p.Trp160Ter)	ECM1 (W160* +1 more)	Single nucleotide variant (nonsense)	Lipid proteinosis	GPathogenic
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 222947	NM_004425.4(ECM1):c.507del (p.Arg171fs)	ECM1 (R171fs +1 more)	Deletion (frameshift variant)	ECM1-related condition	GPathogenic
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 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 7473	NM_004425.4(ECM1):c.1304+35_*302del	ECM1	Deletion (splice acceptor variant +1 more)	Lipid proteinosis	GPathogenic

ClinVar