ClinVar for MedGen (Select 482428) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3022502	NM_016938.5(EFEMP2):c.792T>C (p.Arg264=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 3021828	NM_016938.5(EFEMP2):c.367+10del	EFEMP2	Deletion (intron variant)	Cutis laxa, autosomal recessive, type 1B	GBenign
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 3005706	NM_016938.5(EFEMP2):c.543T>C (p.Pro181=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2998971	NM_016938.5(EFEMP2):c.778_780del (p.Asn260del)	EFEMP2 (N260del)	Deletion (inframe_deletion +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
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 2961963	NM_016938.5(EFEMP2):c.297A>C (p.Pro99=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
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 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 2912711	NM_016938.5(EFEMP2):c.663T>C (p.Tyr221=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2897761	NM_016938.5(EFEMP2):c.204A>G (p.Glu68=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2892857	NM_016938.5(EFEMP2):c.368-16G>A	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2887200	NM_016938.5(EFEMP2):c.607+14G>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2884303	NM_016938.5(EFEMP2):c.48G>T (p.Ala16=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2880640	NM_016938.5(EFEMP2):c.609T>C (p.Asp203=)	EFEMP2	Single nucleotide variant (non-coding transcript variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2879214	NM_016938.5(EFEMP2):c.333A>G (p.Pro111=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2877716	NM_016938.5(EFEMP2):c.290dup (p.Pro98fs)	EFEMP2 (P98fs)	Duplication (frameshift variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
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 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 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 2860470	NM_016938.5(EFEMP2):c.180C>T (p.Thr60=)	EFEMP2	Single nucleotide variant (non-coding transcript variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2855220	NM_016938.5(EFEMP2):c.492C>T (p.Asp164=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2847110	NM_016938.5(EFEMP2):c.368-2A>G	EFEMP2	Single nucleotide variant (splice acceptor variant)	Cutis laxa, autosomal recessive, type 1B	GLikely pathogenic
Select item 2846766	NM_016938.5(EFEMP2):c.1171-17del	EFEMP2, MUS81	Deletion (intron variant)	Cutis laxa, autosomal recessive, type 1B	GBenign
Select item 2834416	NM_016938.5(EFEMP2):c.367+13T>C	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2799905	NM_016938.5(EFEMP2):c.18C>T (p.Ser6=)	EFEMP2	Single nucleotide variant (non-coding transcript variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2783412	NM_016938.5(EFEMP2):c.847+9T>C	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
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 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 2743062	NM_016938.5(EFEMP2):c.633C>A (p.Ala211=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2740052	NM_016938.5(EFEMP2):c.727+16C>G	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2737737	NM_016938.5(EFEMP2):c.513C>T (p.Arg171=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2729987	NM_016938.5(EFEMP2):c.848-12C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
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 2727044	NM_016938.5(EFEMP2):c.491-6C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2718309	NM_016938.5(EFEMP2):c.491-15T>C	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 2708046	NM_016938.5(EFEMP2):c.727+7G>A	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2703815	NM_016938.5(EFEMP2):c.519C>T (p.Cys173=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2703407	NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)	EFEMP2	Deletion (nonsense +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 2694971	NM_016938.5(EFEMP2):c.727+7G>C	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2501223	NM_016938.5(EFEMP2):c.-7-1_-7delinsAT	EFEMP2	Indel (splice acceptor variant)	Cutis laxa, autosomal recessive, type 1B	GLikely pathogenic
Select item 2500025	NM_016938.5(EFEMP2):c.726T>C (p.Ser242=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
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 2430241	NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)	EFEMP2 (R83C)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely pathogenic
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 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 2417096	NM_016938.5(EFEMP2):c.727+19C>G	EFEMP2	Single nucleotide variant (intron variant)	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 2199629	NM_016938.5(EFEMP2):c.316C>A (p.Pro106Thr)	EFEMP2 (P106T)	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 2193463	NM_016938.5(EFEMP2):c.6C>T (p.Leu2=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B +1 more	GLikely benign
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 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 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 2164472	NM_016938.5(EFEMP2):c.455C>A (p.Pro152His)	EFEMP2 (P152H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
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 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 2156903	NM_016938.5(EFEMP2):c.640G>A (p.Glu214Lys)	EFEMP2 (E214K)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2156557	NM_016938.5(EFEMP2):c.270C>T (p.Asp90=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2155264	NM_016938.5(EFEMP2):c.667A>T (p.Thr223Ser)	EFEMP2 (T223S)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2122659	NM_016938.5(EFEMP2):c.161-6C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2108578	NM_016938.5(EFEMP2):c.481G>C (p.Glu161Gln)	EFEMP2 (E161Q)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2104751	NM_016938.5(EFEMP2):c.491-13C>G	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2078727	NM_016938.5(EFEMP2):c.111+19G>A	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2074396	NM_016938.5(EFEMP2):c.225C>T (p.Tyr75=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2067944	NM_016938.5(EFEMP2):c.535A>G (p.Asn179Asp)	EFEMP2 (N179D)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	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	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 2057751	NM_016938.5(EFEMP2):c.291G>A (p.Pro97=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2046645	NM_016938.5(EFEMP2):c.608-5_608-4delinsAG	EFEMP2	Indel (intron variant)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2044745	NM_016938.5(EFEMP2):c.848-15T>C	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2043366	NM_016938.5(EFEMP2):c.100G>A (p.Asp34Asn)	EFEMP2 (D34N)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2043160	NM_016938.5(EFEMP2):c.7C>T (p.Pro3Ser)	EFEMP2 (P3S)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
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 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 2032133	NM_016938.5(EFEMP2):c.160+7G>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 2020563	NM_016938.5(EFEMP2):c.848-1_850del	EFEMP2	Deletion (splice acceptor variant)	Cutis laxa, autosomal recessive, type 1B	GLikely pathogenic
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 2017737	NM_016938.5(EFEMP2):c.490+16A>G	EFEMP2	Single nucleotide variant (intron variant)	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 1997227	NM_016938.5(EFEMP2):c.450C>T (p.Thr150=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1993013	NM_016938.5(EFEMP2):c.627G>A (p.Met209Ile)	EFEMP2 (M209I)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	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 1975061	NM_016938.5(EFEMP2):c.668C>T (p.Thr223Ile)	EFEMP2 (T223I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1972766	NM_016938.5(EFEMP2):c.848-9C>T	EFEMP2	Single nucleotide variant (intron variant)	Cutis laxa, autosomal recessive, type 1B	GLikely benign
Select item 1937636	NM_016938.5(EFEMP2):c.421C>T (p.His141Tyr)	EFEMP2 (H141Y)	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 1805442	NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)	EFEMP2 (D245del)	Microsatellite (inframe_deletion +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1799340	NM_016938.5(EFEMP2):c.305C>T (p.Pro102Leu)	EFEMP2 (P102L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
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 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 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 1748189	NM_016938.5(EFEMP2):c.553C>T (p.Arg185Cys)	EFEMP2 (R185C)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1747716	NM_016938.5(EFEMP2):c.546C>T (p.Gly182=)	EFEMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
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 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 1727617	NM_016938.5(EFEMP2):c.30G>A (p.Gly10=)	EFEMP2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	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

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