30008[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 402818	NC_000011.10:g.65864502G>A	MUS81, EFEMP2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 402819	NC_000011.10:g.65864791G>T	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 305371	NM_016938.5(EFEMP2):c.*403C>G	EFEMP2, MUS81	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 305372	NM_016938.5(EFEMP2):c.*305C>T	MUS81, EFEMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 305373	NM_016938.5(EFEMP2):c.*282C>T	EFEMP2, MUS81	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 877710	NM_016938.5(EFEMP2):c.*247A>C	EFEMP2, MUS81	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 878750	NM_016938.5(EFEMP2):c.*182A>G	EFEMP2, MUS81	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 878751	NM_016938.5(EFEMP2):c.*174G>A	EFEMP2, MUS81	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 305374	NM_016938.5(EFEMP2):c.*165dup	EFEMP2, MUS81	Duplication (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
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 305376	NM_016938.5(EFEMP2):c.*3A>G	EFEMP2, MUS81	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1769988	NM_016938.5(EFEMP2):c.1325C>A (p.Thr442Asn)	EFEMP2, MUS81 (T442N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1769946	NM_016938.5(EFEMP2):c.1323C>T (p.Tyr441=)	MUS81, EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 827976	NM_016938.5(EFEMP2):c.1311T>G (p.Phe437Leu)	EFEMP2, MUS81 (F437L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	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 3274661	NM_016938.5(EFEMP2):c.1291G>A (p.Val431Ile)	EFEMP2, MUS81 (V431I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2563684	NM_016938.5(EFEMP2):c.1289C>A (p.Ser430Tyr)	EFEMP2, MUS81 (S430Y)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 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 1767857	NM_016938.5(EFEMP2):c.1280G>A (p.Arg427Gln)	EFEMP2, MUS81 (R427Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 3274665	NM_016938.5(EFEMP2):c.1257C>A (p.Thr419=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3226924	NM_016938.5(EFEMP2):c.1251G>C (p.Met417Ile)	EFEMP2, MUS81 (M417I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 +1 more	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 3274658	NM_016938.5(EFEMP2):c.1233C>T (p.Tyr411=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1617722	NM_016938.5(EFEMP2):c.1221C>A (p.Gly407=)	EFEMP2, MUS81	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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2563686	NM_016938.5(EFEMP2):c.1213G>C (p.Val405Leu)	EFEMP2, MUS81 (V405L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 2563681	NM_016938.5(EFEMP2):c.1211C>G (p.Pro404Arg)	EFEMP2, MUS81 (P404R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 3274655	NM_016938.5(EFEMP2):c.1208G>A (p.Arg403Gln)	EFEMP2, MUS81 (R403Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 2037589	NM_016938.5(EFEMP2):c.1204G>A (p.Ala402Thr)	EFEMP2, MUS81 (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)	Cutis laxa, autosomal recessive, type 1B +2 more	GLikely benign
Select item 1739625	NM_016938.5(EFEMP2):c.1171-2_1195del	EFEMP2, MUS81	Deletion (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1745176	NM_016938.5(EFEMP2):c.1192A>C (p.Met398Leu)	EFEMP2, MUS81 (M398L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3226923	NM_016938.5(EFEMP2):c.1190C>G (p.Ala397Gly)	EFEMP2, MUS81 (A397G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 39009	NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)	EFEMP2, MUS81 (A397T)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
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 2312769	NM_016938.5(EFEMP2):c.1184T>C (p.Val395Ala)	EFEMP2, MUS81 (V395A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1742839	NM_016938.5(EFEMP2):c.1183G>T (p.Val395Phe)	EFEMP2, MUS81 (V395F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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)	Cutis laxa, autosomal recessive, type 1B +1 more	GUncertain significance
Select item 1741990	NM_016938.5(EFEMP2):c.1177AAC[1] (p.Asn394del)	MUS81, EFEMP2 (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)	Cutis laxa, autosomal recessive, type 1B +2 more	GLikely benign
Select item 1740709	NM_016938.5(EFEMP2):c.1176C>A (p.Ile392=)	EFEMP2, MUS81	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	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 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 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

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