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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	LOC130006108, LOC130006109 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1769988	NM_016938.5(EFEMP2):c.1325C>A (p.Thr442Asn)	MUS81, EFEMP2 (T442N)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 1022190	NM_016938.5(EFEMP2):c.1306G>A (p.Val436Ile)	EFEMP2, MUS81 (V436I)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 1616716	NM_016938.5(EFEMP2):c.1305C>G (p.Thr435=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1603378	NM_016938.5(EFEMP2):c.1305C>T (p.Thr435=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2420298	NM_016938.5(EFEMP2):c.1302C>T (p.Leu434=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 581860	NM_016938.5(EFEMP2):c.1283C>T (p.Ala428Val)	EFEMP2, MUS81 (A428V)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 949746	NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp)	EFEMP2, MUS81 (R427W)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2771066	NM_016938.5(EFEMP2):c.1248G>A (p.Glu416=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2865131	NM_016938.5(EFEMP2):c.1236G>A (p.Val412=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
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	GUncertain significance
Select item 581197	NM_016938.5(EFEMP2):c.1234G>C (p.Val412Leu)	EFEMP2, MUS81 (V412L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 566563	NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu)	EFEMP2, MUS81 (V412L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 1976046	NM_016938.5(EFEMP2):c.1228G>C (p.Glu410Gln)	EFEMP2, MUS81 (E410Q)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 39010	NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln)	EFEMP2, MUS81 (R409Q)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1493792	NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp)	EFEMP2, MUS81 (R409W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1617722	NM_016938.5(EFEMP2):c.1221C>A (p.Gly407=)	MUS81, EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1016757	NM_016938.5(EFEMP2):c.1220G>T (p.Gly407Val)	EFEMP2, MUS81 (G407V)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 3014903	NM_016938.5(EFEMP2):c.1218G>T (p.Thr406=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2157605	NM_016938.5(EFEMP2):c.1218G>A (p.Thr406=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1018287	NM_016938.5(EFEMP2):c.1217C>T (p.Thr406Met)	EFEMP2, MUS81 (T406M)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 472811	NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 568624	NM_016938.5(EFEMP2):c.1211C>T (p.Pro404Leu)	EFEMP2, MUS81 (P404L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2179765	NM_016938.5(EFEMP2):c.1210C>A (p.Pro404Thr)	EFEMP2, MUS81 (P404T)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 540026	NM_016938.5(EFEMP2):c.1207C>A (p.Arg403=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2037589	NM_016938.5(EFEMP2):c.1204G>A (p.Ala402Thr)	MUS81, EFEMP2 (A402T)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1135648	NM_016938.5(EFEMP2):c.1203C>T (p.Leu401=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +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 +4 more	GConflicting classifications of pathogenicity
Select item 1496897	NM_016938.5(EFEMP2):c.1183G>C (p.Val395Leu)	EFEMP2, MUS81 (V395L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 540027	NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile)	EFEMP2, MUS81 (V395I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1741990	NM_016938.5(EFEMP2):c.1177AAC[1] (p.Asn394del)	EFEMP2, MUS81 (N394del)	Microsatellite (inframe_deletion +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 507642	NM_016938.5(EFEMP2):c.1182C>T (p.Asn394=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 650648	NM_016938.5(EFEMP2):c.1174del (p.Ile392fs)	EFEMP2, MUS81 (I392fs)	Deletion (frameshift variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2728834	NM_016938.5(EFEMP2):c.1171-9G>A	EFEMP2, MUS81	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2846766	NM_016938.5(EFEMP2):c.1171-17del	EFEMP2, MUS81	Deletion (intron variant)	Cutis laxa, autosomal recessive, type 1B	GBenign
Select item 1641180	NM_016938.5(EFEMP2):c.1171-19C>T	EFEMP2, MUS81	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 682270	NM_016938.5(EFEMP2):c.1170+17C>T	EFEMP2	Single nucleotide variant (intron variant)	not provided +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)	Cardiovascular phenotype +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 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 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 +1 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	GUncertain significance
Select item 540033	NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +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 +4 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)	Cutis laxa, autosomal recessive, type 1B	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 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 1783537	NM_016938.5(EFEMP2):c.1071C>T (p.Pro357=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +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)	Cardiovascular phenotype +1 more	GLikely benign
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 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 472807	NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu)	EFEMP2 (Q339L)	Single nucleotide variant (missense variant +1 more)	not specified +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 1624951	NM_016938.5(EFEMP2):c.1003C>T (p.Leu335=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 472834	NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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)	not provided +2 more	GConflicting classifications of pathogenicity
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 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)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
Select item 1381687	NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe)	EFEMP2 (V322F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +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 655732	NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu)	EFEMP2 (V316L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B +2 more	GConflicting classifications of pathogenicity
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 1209891	NM_016938.5(EFEMP2):c.939C>T (p.Asn313=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 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 +3 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)	not specified +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)	Cardiovascular phenotype +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)	not provided +1 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 540031	NM_016938.5(EFEMP2):c.912T>C (p.His304=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign

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