"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	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)	Cutis laxa, autosomal recessive, type 1B +3 more	GConflicting classifications of pathogenicity
Select item 472808	NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 305379	NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)	EFEMP2 (T312A)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 305380	NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +3 more	GConflicting classifications of pathogenicity
Select item 439638	NM_016938.5(EFEMP2):c.882C>T (p.Cys294=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
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 507578	NM_016938.5(EFEMP2):c.728-3C>T	EFEMP2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2921211	NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 646814	NM_016938.5(EFEMP2):c.554G>A (p.Arg185His)	EFEMP2 (R185H)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 439640	NM_016938.5(EFEMP2):c.490+9A>T	EFEMP2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 472826	NM_016938.5(EFEMP2):c.474C>T (p.Ile158=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 618078	NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser)	EFEMP2 (G154S)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 39011	NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	EFEMP2 (E126K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 226628	NM_016938.5(EFEMP2):c.368-4G>A	EFEMP2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 178773	NM_016938.5(EFEMP2):c.368-11G>A	EFEMP2	Single nucleotide variant (intron variant)	not provided +2 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)	not provided +3 more	GBenign/Likely benign
Select item 1112766	NM_016938.5(EFEMP2):c.231C>T (p.Gly77=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1330731	NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp)	EFEMP2 (R53W)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 390442	NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)	EFEMP2 (P47S)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +3 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
Select item 305388	NM_016938.5(EFEMP2):c.-58G>A	EFEMP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 439639	NM_016938.5(EFEMP2):c.-113C>T	EFEMP2	Single nucleotide variant (5 prime UTR variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22