"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EFEMP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 540027	NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile)	EFEMP2, MUS81 (V395I)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 506520	NM_016938.5(EFEMP2):c.927C>T (p.Cys309=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +2 more	GLikely benign
Select item 472828	NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)	EFEMP2 (R169H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 472825	NM_016938.5(EFEMP2):c.422A>T (p.His141Leu)	EFEMP2 (H141L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 472824	NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)	EFEMP2 (S137C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 472813	NM_016938.5(EFEMP2):c.151C>T (p.His51Tyr)	EFEMP2 (H51Y)	Single nucleotide variant (missense variant +1 more)	EFEMP2-related disorder +1 more	GUncertain significance

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