"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305377	NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 664118	NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg)	EFEMP2 (S355R)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +2 more	GUncertain significance
Select item 305380	NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 39015	NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)	EFEMP2 (I259V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 522224	NM_016938.5(EFEMP2):c.490+23G>C	EFEMP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 226628	NM_016938.5(EFEMP2):c.368-4G>A	EFEMP2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 424982	NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)	EFEMP2 (G93S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 163326	NM_016938.5(EFEMP2):c.276C>T (p.His92=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign
Select item 390442	NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)	EFEMP2 (P47S)	Single nucleotide variant (missense variant +1 more)	EFEMP2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 472818	NM_016938.5(EFEMP2):c.27C>G (p.Pro9=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign