"GeneDx"[submitter] AND "EFEMP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305375	NM_016938.5(EFEMP2):c.*115G>A	EFEMP2, MUS81	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal recessive, type 1B +1 more	GConflicting classifications of pathogenicity
Select item 1195031	NM_016938.5(EFEMP2):c.*20C>T	EFEMP2, MUS81	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 452179	NM_016938.5(EFEMP2):c.1279_1289del (p.Arg427fs)	MUS81, EFEMP2 (R427fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1514476	NM_016938.5(EFEMP2):c.1234G>A (p.Val412Met)	EFEMP2, MUS81 (V412M)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 1493792	NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp)	EFEMP2, MUS81 (R409W)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 472811	NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 540026	NM_016938.5(EFEMP2):c.1207C>A (p.Arg403=)	MUS81, EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1135648	NM_016938.5(EFEMP2):c.1203C>T (p.Leu401=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +2 more	GLikely benign
Select item 305377	NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 507642	NM_016938.5(EFEMP2):c.1182C>T (p.Asn394=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +2 more	GLikely benign
Select item 1275726	NM_016938.5(EFEMP2):c.1171-213G>C	EFEMP2, MUS81	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1189128	NM_016938.5(EFEMP2):c.1171-320G>A	EFEMP2, MUS81	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1262281	NM_016938.5(EFEMP2):c.1170+235_1170+236insC	EFEMP2, MUS81	Insertion (non-coding transcript variant +1 more)	not provided	GBenign
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 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 472808	NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 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 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 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 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 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 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 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 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 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 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 +1 more	GUncertain significance
Select item 2067512	NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)	EFEMP2 (C287fs)	Duplication (frameshift variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GPathogenic/Likely pathogenic
Select item 2430490	NM_016938.5(EFEMP2):c.848-1_849del	EFEMP2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 472833	NM_016938.5(EFEMP2):c.810A>G (p.Pro270=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 2507211	NM_016938.5(EFEMP2):c.809C>T (p.Pro270Leu)	EFEMP2 (P270L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311523	NM_016938.5(EFEMP2):c.791G>A (p.Arg264His)	EFEMP2 (R264H)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +2 more	GUncertain significance
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 1312885	NM_016938.5(EFEMP2):c.770G>A (p.Arg257His)	EFEMP2 (R257H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703262	NM_016938.5(EFEMP2):c.769C>T (p.Arg257Cys)	EFEMP2 (R257C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 682444	NM_016938.5(EFEMP2):c.756C>T (p.Tyr252=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 472830	NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
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 1253892	NM_016938.5(EFEMP2):c.728-201A>G	EFEMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217725	NM_016938.5(EFEMP2):c.728-336A>G	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180904	NM_016938.5(EFEMP2):c.727+324TCT[2]	EFEMP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 683486	NM_016938.5(EFEMP2):c.727+252A>G	EFEMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243035	NM_016938.5(EFEMP2):c.727+55T>C	EFEMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514721	NM_016938.5(EFEMP2):c.727+11C>T	EFEMP2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1306930	NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly)	EFEMP2 (S242G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 838688	NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg)	EFEMP2 (G210R)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +3 more	GConflicting classifications of pathogenicity
Select item 39014	NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)	EFEMP2 (D203A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 451741	NM_016938.5(EFEMP2):c.608-2A>G	EFEMP2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1311097	NM_016938.5(EFEMP2):c.595C>A (p.Arg199Ser)	EFEMP2 (R199S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1326054	NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys)	EFEMP2 (E189K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
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 3252904	NM_016938.5(EFEMP2):c.509A>T (p.Tyr170Phe)	EFEMP2 (Y170F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 679553	NM_016938.5(EFEMP2):c.491-28_491-22del	EFEMP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1213393	NM_016938.5(EFEMP2):c.491-65C>T	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214463	NM_016938.5(EFEMP2):c.491-138G>A	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209192	NM_016938.5(EFEMP2):c.490+30C>T	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 522224	NM_016938.5(EFEMP2):c.490+23G>C	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B +1 more	GBenign
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 968840	NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser)	EFEMP2 (G145S)	Single nucleotide variant (missense variant +1 more)	not specified +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 305382	NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn)	EFEMP2 (D133N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 472823	NM_016938.5(EFEMP2):c.396C>T (p.His132=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +2 more	GLikely benign
Select item 3377947	NM_016938.5(EFEMP2):c.389C>A (p.Ala130Asp)	EFEMP2 (A130D)	Single nucleotide variant (missense variant +1 more)	not provided	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)	Cardiovascular phenotype +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 392343	NM_016938.5(EFEMP2):c.368-18G>A	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B +2 more	GBenign/Likely benign
Select item 1189108	NM_016938.5(EFEMP2):c.367+44C>G	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 703835	NM_016938.5(EFEMP2):c.363T>C (p.Cys121=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 582876	NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu)	EFEMP2 (D116E)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +3 more	GUncertain significance
Select item 472822	NM_016938.5(EFEMP2):c.348C>T (p.Asp116=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 880526	NM_016938.5(EFEMP2):c.321C>T (p.Asn107=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 391628	NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys)	EFEMP2 (N107K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 648809	NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys)	EFEMP2 (E94K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 424982	NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)	EFEMP2 (G93S)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +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 668618	NM_016938.5(EFEMP2):c.273A>G (p.Leu91=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 510682	NM_016938.5(EFEMP2):c.267C>T (p.Asn89=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 650013	NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile)	EFEMP2 (V87I)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 391304	NM_016938.5(EFEMP2):c.258C>T (p.Ala86=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +3 more	GLikely benign
Select item 305383	NM_016938.5(EFEMP2):c.161-6C>G	EFEMP2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 305384	NM_016938.5(EFEMP2):c.161-10C>T	EFEMP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1192848	NM_016938.5(EFEMP2):c.161-13C>A	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 1190124	NM_016938.5(EFEMP2):c.161-31C>T	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195825	NM_016938.5(EFEMP2):c.161-138A>C	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186119	NM_016938.5(EFEMP2):c.160+121C>G	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183595	NM_016938.5(EFEMP2):c.160+67G>A	EFEMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309128	NM_016938.5(EFEMP2):c.157C>G (p.Arg53Gly)	EFEMP2 (R53G)	Single nucleotide variant (missense variant +1 more)	not provided	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 472812	NM_016938.5(EFEMP2):c.138C>T (p.Asp46=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 678689	NM_016938.5(EFEMP2):c.111+81G>A	EFEMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310045	NM_016938.5(EFEMP2):c.80C>T (p.Pro27Leu)	EFEMP2 (P27L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 472818	NM_016938.5(EFEMP2):c.27C>G (p.Pro9=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 2561720	NM_016938.5(EFEMP2):c.20G>T (p.Cys7Phe)	EFEMP2 (C7F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3375779	NM_016938.5(EFEMP2):c.17C>T (p.Ser6Phe)	EFEMP2 (S6F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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