"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3064079	NM_004425.4(ECM1):c.1051C>T (p.Gln351Ter)	ECM1 (Q351* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	GLikely pathogenic

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