EFEMP2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 682270	NM_016938.5(EFEMP2):c.1170+17C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 1578987	NM_016938.5(EFEMP2):c.1170+13C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2915542	NM_016938.5(EFEMP2):c.1170+12G>A	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2714545	NM_016938.5(EFEMP2):c.1170+11T>C	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 849984	NM_016938.5(EFEMP2):c.1170+3A>G	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 943459	NM_016938.5(EFEMP2):c.1170+1G>A	EFEMP2	Single nucleotide variant (splice donor variant)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2033847	NM_016938.5(EFEMP2):c.1167T>C (p.Ile389=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1737959	NM_016938.5(EFEMP2):c.1165A>C (p.Ile389Leu)	EFEMP2 (I389L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 2176895	NM_016938.5(EFEMP2):c.1162T>C (p.Tyr388His)	EFEMP2 (Y388H)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1638024	NM_016938.5(EFEMP2):c.1161T>C (p.Phe387=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 2874033	NM_016938.5(EFEMP2):c.1156G>A (p.Asp386Asn)	EFEMP2 (D386N)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1007038	NM_016938.5(EFEMP2):c.1156G>C (p.Asp386His)	EFEMP2 (D386H)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1734683	NM_016938.5(EFEMP2):c.1153G>A (p.Gly385Arg)	EFEMP2 (G385R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2197814	NM_016938.5(EFEMP2):c.1149G>A (p.Ser383=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1731242	NM_016938.5(EFEMP2):c.1140T>A (p.Ala380=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1715946	NM_016938.5(EFEMP2):c.1123G>C (p.Ala375Pro)	EFEMP2 (A375P)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 540023	NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs)	EFEMP2 (G371fs)	Duplication (frameshift variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely pathogenic
Select item 472810	NM_016938.5(EFEMP2):c.1111G>A (p.Gly371Ser)	EFEMP2 (G371S)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2164876	NM_016938.5(EFEMP2):c.1110C>G (p.Pro370=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1045287	NM_016938.5(EFEMP2):c.1110C>A (p.Pro370=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 749027	NM_016938.5(EFEMP2):c.1110C>T (p.Pro370=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 540025	NM_016938.5(EFEMP2):c.1105T>C (p.Tyr369His)	EFEMP2 (Y369H)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 540033	NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 2605437	NM_016938.5(EFEMP2):c.1099T>C (p.Ser367Pro)	EFEMP2 (S367P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 472808	NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +3 more	GLikely benign
Select item 1419689	NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val)	EFEMP2 (A365V)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2199851	NM_016938.5(EFEMP2):c.1092G>A (p.Gln364=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2017823	NM_016938.5(EFEMP2):c.1083C>T (p.Phe361=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1998877	NM_016938.5(EFEMP2):c.1080G>C (p.Val360=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1786375	NM_016938.5(EFEMP2):c.1080G>A (p.Val360=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1785463	NM_016938.5(EFEMP2):c.1078G>A (p.Val360Met)	EFEMP2 (V360M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1597409	NM_016938.5(EFEMP2):c.1077C>T (p.Asp359=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 5425	NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)	EFEMP2 (D359fs)	Duplication (frameshift variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 1783898	NM_016938.5(EFEMP2):c.1072G>A (p.Ala358Thr)	EFEMP2 (A358T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1783537	NM_016938.5(EFEMP2):c.1071C>T (p.Pro357=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 664118	NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg)	EFEMP2 (S355R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 838486	NM_016938.5(EFEMP2):c.1061G>A (p.Arg354Gln)	EFEMP2 (R354Q)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1910120	NM_016938.5(EFEMP2):c.1060C>T (p.Arg354Trp)	EFEMP2 (R354W)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 748481	NM_016938.5(EFEMP2):c.1056G>A (p.Ser352=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 3087517	NM_016938.5(EFEMP2):c.1055C>T (p.Ser352Leu)	EFEMP2 (S352L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2563682	NM_016938.5(EFEMP2):c.1043T>A (p.Met348Lys)	EFEMP2 (M348K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1041963	NM_016938.5(EFEMP2):c.1037G>A (p.Arg346His)	EFEMP2 (R346H)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 1772681	NM_016938.5(EFEMP2):c.1036C>T (p.Arg346Cys)	EFEMP2 (R346C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3274664	NM_016938.5(EFEMP2):c.1034A>G (p.His345Arg)	EFEMP2 (H345R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1591020	NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2563688	NM_016938.5(EFEMP2):c.1024T>C (p.Ser342Pro)	EFEMP2 (S342P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3226922	NM_016938.5(EFEMP2):c.1022C>T (p.Ser341Leu)	EFEMP2 (S341L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 472807	NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu)	EFEMP2 (Q339L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +2 more	GUncertain significance
Select item 1662624	NM_016938.5(EFEMP2):c.1014G>A (p.Glu338=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1611744	NM_016938.5(EFEMP2):c.1011A>G (p.Arg337=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1472847	NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln)	EFEMP2 (R337Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3075819	NM_016938.5(EFEMP2):c.1009C>T (p.Arg337Ter)	EFEMP2 (R337*)	Single nucleotide variant (nonsense +1 more)	Cutis laxa	GLikely pathogenic
Select item 3226921	NM_016938.5(EFEMP2):c.1006T>C (p.Cys336Arg)	EFEMP2 (C336R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1624951	NM_016938.5(EFEMP2):c.1003C>T (p.Leu335=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 3226943	NM_016938.5(EFEMP2):c.999C>T (p.Asn333=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 472834	NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1310362	NM_016938.5(EFEMP2):c.989C>G (p.Pro330Arg)	EFEMP2 (P330R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018657	NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu)	EFEMP2 (P330L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 305378	NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)	EFEMP2 (R326H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 3065562	NM_016938.5(EFEMP2):c.976C>G (p.Arg326Gly)	EFEMP2 (R326G)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 2441182	NM_016938.5(EFEMP2):c.975-5T>G	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1630103	NM_016938.5(EFEMP2):c.975-11G>A	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2160438	NM_016938.5(EFEMP2):c.975-12C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1209949	NM_016938.5(EFEMP2):c.975-15C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2865073	NM_016938.5(EFEMP2):c.975-20C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1223775	NM_016938.5(EFEMP2):c.975-25G>T	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255373	NM_016938.5(EFEMP2):c.975-32C>T	EFEMP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 678723	NM_016938.5(EFEMP2):c.974+47G>A	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605502	NM_016938.5(EFEMP2):c.974+12C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 792602	NM_016938.5(EFEMP2):c.974+7C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2418267	NM_016938.5(EFEMP2):c.969T>C (p.Ser323=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3226942	NM_016938.5(EFEMP2):c.964G>A (p.Val322Ile)	EFEMP2 (V322I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1381687	NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe)	EFEMP2 (V322F)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 1070589	NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs)	EFEMP2 (P318fs)	Duplication (frameshift variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 2061583	NM_016938.5(EFEMP2):c.933_950dup (p.Val316_Glu317insAspThrAsnArgCysVal)	EFEMP2	Duplication (inframe_insertion +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 3226940	NM_016938.5(EFEMP2):c.946G>A (p.Val316Met)	EFEMP2 (V316M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 655732	NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu)	EFEMP2 (V316L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1767024	NM_016938.5(EFEMP2):c.945C>T (p.Cys315=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 861848	NM_016938.5(EFEMP2):c.941G>A (p.Arg314His)	EFEMP2 (R314H)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1766720	NM_016938.5(EFEMP2):c.937_939delinsGAT (p.Asn313Asp)	EFEMP2 (N313D)	Indel (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1209891	NM_016938.5(EFEMP2):c.939C>T (p.Asn313=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 423870	NM_016938.5(EFEMP2):c.938A>T (p.Asn313Ile)	EFEMP2 (N313I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 2989092	NM_016938.5(EFEMP2):c.933C>T (p.Asp311=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1493902	NM_016938.5(EFEMP2):c.931G>A (p.Asp311Asn)	EFEMP2 (D311N)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1041739	NM_016938.5(EFEMP2):c.928G>A (p.Val310Met)	EFEMP2 (V310M)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	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 1766295	NM_016938.5(EFEMP2):c.923G>A (p.Arg308His)	EFEMP2 (R308H)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 1042083	NM_016938.5(EFEMP2):c.922C>T (p.Arg308Cys)	EFEMP2 (R308C)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +2 more	GUncertain significance
Select item 2769959	NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)	EFEMP2 (Y307fs)	Duplication (frameshift variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 2605668	NM_016938.5(EFEMP2):c.916G>T (p.Gly306Cys)	EFEMP2 (G306C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 540031	NM_016938.5(EFEMP2):c.912T>C (p.His304=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 847188	NM_016938.5(EFEMP2):c.905A>G (p.Asn302Ser)	EFEMP2 (N302S)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1764988	NM_016938.5(EFEMP2):c.888G>A (p.Glu296=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 305380	NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not specified +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)	not specified +2 more	GLikely benign
Select item 879337	NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr)	EFEMP2 (H292Y)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GConflicting classifications of pathogenicity
Select item 1159447	NM_016938.5(EFEMP2):c.873G>A (p.Ala291=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 1057028	NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly)	EFEMP2 (A291G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 305381	NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val)	EFEMP2 (A291V)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance

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