ClinVar for Gene (Select 1959) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342421	NM_000399.5(EGR2):c.851G>A (p.Gly284Glu)	EGR2 (G234E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087683	NM_000399.5(EGR2):c.722C>G (p.Thr241Arg)	EGR2 (T191R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087682	NM_000399.5(EGR2):c.529T>C (p.Cys177Arg)	EGR2 (C177R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029749	NM_000399.5(EGR2):c.824G>T (p.Gly275Val)	EGR2 (G225V +2 more)	Single nucleotide variant (missense variant)	EGR2-related disorder	GUncertain significance
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 3012572	NM_000399.5(EGR2):c.912C>T (p.Ala304=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 3000402	NM_000399.5(EGR2):c.897AGC[3] (p.Ala308_Ala309del)	EGR2	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 3000377	NM_000399.5(EGR2):c.913G>A (p.Ala305Thr)	EGR2 (A255T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2988561	NM_000399.5(EGR2):c.1430G>C (p.Ter477Ser)	EGR2	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2974195	NM_000399.5(EGR2):c.157G>T (p.Gly53Ter)	EGR2 (G3* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2957647	NM_000399.5(EGR2):c.398C>T (p.Ser133Leu)	EGR2 (S133L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2957573	NM_000399.5(EGR2):c.910GCC[4] (p.Ala308_Ala309del)	EGR2	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2955636	NM_000399.5(EGR2):c.874C>T (p.Pro292Ser)	EGR2 (P292S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2916409	NM_000399.5(EGR2):c.925G>C (p.Ala309Pro)	EGR2 (A259P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2915198	NM_000399.5(EGR2):c.169+19C>T	EGR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2910926	NM_000399.5(EGR2):c.843C>G (p.Thr281=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2910642	NM_000399.5(EGR2):c.1326C>T (p.Ser442=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2902563	NM_000399.5(EGR2):c.535G>A (p.Gly179Arg)	EGR2 (G192R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2902113	NM_000399.5(EGR2):c.430C>T (p.Leu144=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2892455	NM_000399.5(EGR2):c.292A>G (p.Ile98Val)	EGR2 (I48V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2887451	NM_000399.5(EGR2):c.501G>A (p.Pro167=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2885409	NM_000399.5(EGR2):c.929A>G (p.Tyr310Cys)	EGR2 (Y310C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2871322	NM_000399.5(EGR2):c.1050G>T (p.Arg350=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2871321	NM_000399.5(EGR2):c.1323C>T (p.Ala441=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2857159	NM_000399.5(EGR2):c.867C>T (p.Ser289=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2852587	NM_000399.5(EGR2):c.1178C>G (p.Thr393Ser)	EGR2 (T406S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2827590	NM_000399.5(EGR2):c.1106C>G (p.Pro369Arg)	EGR2 (P319R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2824230	NM_000399.5(EGR2):c.712C>T (p.Leu238=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2814083	NM_000399.5(EGR2):c.762C>T (p.Asp254=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2812094	NM_000399.5(EGR2):c.1021C>T (p.Pro341Ser)	EGR2 (P354S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2810022	NM_000399.5(EGR2):c.504del (p.Pro169fs)	EGR2 (P182fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2803993	NM_000399.5(EGR2):c.844G>A (p.Gly282Arg)	EGR2 (G295R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2796608	NM_000399.5(EGR2):c.1214G>A (p.Arg405Gln)	EGR2 (R405Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2782450	NM_000399.5(EGR2):c.1408T>G (p.Ser470Ala)	EGR2 (S420A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2777150	NM_000399.5(EGR2):c.170-11C>G	EGR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2763046	NM_000399.5(EGR2):c.882G>C (p.Leu294=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2741870	NM_000399.5(EGR2):c.1414C>A (p.Arg472=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2738084	NM_000399.5(EGR2):c.79C>T (p.Pro27Ser)	EGR2 (P27S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2737972	NM_000399.5(EGR2):c.630C>T (p.Ser210=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2727771	NM_000399.5(EGR2):c.723A>C (p.Thr241=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2722585	NM_000399.5(EGR2):c.1302G>T (p.Ser434=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2721317	NM_000399.5(EGR2):c.1421G>A (p.Arg474Gln)	EGR2 (R487Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2720353	NM_000399.5(EGR2):c.15G>T (p.Lys5Asn)	EGR2 (K5N)	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2718381	NM_000399.5(EGR2):c.193A>G (p.Thr65Ala)	EGR2 (T15A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2715590	NM_000399.5(EGR2):c.1398C>T (p.Leu466=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2713881	NM_000399.5(EGR2):c.98C>T (p.Ala33Val)	EGR2 (A33V +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2704145	NM_000399.5(EGR2):c.1353T>G (p.Gly451=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2703136	NM_000399.5(EGR2):c.1366A>T (p.Ser456Cys)	EGR2 (S469C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2695318	NM_000399.5(EGR2):c.356G>C (p.Gly119Ala)	EGR2 (G132A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2692931	NM_000399.5(EGR2):c.719G>A (p.Gly240Asp)	EGR2 (G240D +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640506	NM_001136178.2(EGR2):c.-125C>T	EGR2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2640505	NM_000399.5(EGR2):c.1069C>T (p.Leu357=)	EGR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640504	NM_000399.5(EGR2):c.1290C>T (p.Ala430=)	EGR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582455	NM_000399.5(EGR2):c.1294T>A (p.Ser432Thr)	EGR2 (S382T +2 more)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GUncertain significance
Select item 2580933	NM_000399.5(EGR2):c.524C>A (p.Ser175Tyr)	EGR2 (S125Y +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 2578410	NM_000399.5(EGR2):c.1154T>A (p.Leu385His)	EGR2 (L335H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2569660	NM_000399.5(EGR2):c.122A>G (p.Asn41Ser)	EGR2 (N41S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 2487242	NM_000399.5(EGR2):c.764C>G (p.Thr255Ser)	EGR2 (T205S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2485919	NM_000399.5(EGR2):c.1418C>T (p.Thr473Ile)	EGR2 (T486I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441191	NM_000399.5(EGR2):c.514C>G (p.Pro172Ala)	EGR2 (P122A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431049	NM_000399.5(EGR2):c.1190C>A (p.Pro397His)	EGR2 (P347H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D +1 more	GConflicting classifications of pathogenicity
Select item 2423028	NC_000010.10:g.(?_64572967)_(64575789_?)dup	EGR2	Duplication	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2413053	NM_000399.5(EGR2):c.1240A>G (p.Lys414Glu)	EGR2 (K364E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286787	NM_000399.5(EGR2):c.368G>A (p.Gly123Glu)	EGR2 (G136E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251116	NM_000399.5(EGR2):c.800C>A (p.Thr267Lys)	EGR2 (T217K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195616	NM_000399.5(EGR2):c.506C>T (p.Pro169Leu)	EGR2 (P119L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2191576	NM_000399.5(EGR2):c.766C>T (p.Leu256=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2183582	NM_000399.5(EGR2):c.426C>T (p.Asn142=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2183581	NM_000399.5(EGR2):c.475C>A (p.Pro159Thr)	EGR2 (P172T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2182297	NM_000399.5(EGR2):c.645G>C (p.Thr215=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2177193	NM_000399.5(EGR2):c.182A>G (p.Asn61Ser)	EGR2 (N11S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2170668	NM_000399.5(EGR2):c.184A>G (p.Ile62Val)	EGR2 (I12V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2159670	NM_000399.5(EGR2):c.170-19C>A	EGR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2158279	NM_000399.5(EGR2):c.765C>T (p.Thr255=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2148133	NM_000399.5(EGR2):c.1072A>T (p.Thr358Ser)	EGR2 (T358S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2141192	NM_000399.5(EGR2):c.469A>T (p.Thr157Ser)	EGR2 (T107S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 2135004	NM_000399.5(EGR2):c.171T>C (p.Asp57=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2128347	NM_000399.5(EGR2):c.1316C>T (p.Ser439Phe)	EGR2 (S439F +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2098604	NM_000399.5(EGR2):c.1203C>G (p.Asp401Glu)	EGR2 (D351E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2087180	NM_000399.5(EGR2):c.1271_1274del (p.Lys424fs)	EGR2 (K424fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2065586	NM_000399.5(EGR2):c.990C>G (p.Pro330=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2056801	NM_000399.5(EGR2):c.384T>A (p.Ala128=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2047840	NM_000399.5(EGR2):c.311G>A (p.Gly104Asp)	EGR2 (G117D +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2045134	NM_000399.5(EGR2):c.1041C>T (p.Cys347=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2042058	NM_000399.5(EGR2):c.170-14T>C	EGR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2022889	NM_000399.5(EGR2):c.1357C>T (p.Leu453=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2016743	NM_000399.5(EGR2):c.77A>G (p.Tyr26Cys)	EGR2 (Y39C +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2015456	NM_000399.5(EGR2):c.518_520del (p.Pro173_Tyr174delinsHis)	EGR2	Deletion (inframe_indel)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2008775	NM_000399.5(EGR2):c.818T>C (p.Leu273Pro)	EGR2 (L223P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2002993	NM_000399.5(EGR2):c.1160C>T (p.Thr387Ile)	EGR2 (T337I +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2001628	NM_000399.5(EGR2):c.808A>G (p.Asn270Asp)	EGR2 (N283D +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1997882	NM_000399.5(EGR2):c.443C>A (p.Pro148His)	EGR2 (P161H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1995963	NM_000399.5(EGR2):c.676T>A (p.Tyr226Asn)	EGR2 (Y226N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1986706	NM_000399.5(EGR2):c.983A>G (p.Asn328Ser)	EGR2 (N278S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 1966940	NM_000399.5(EGR2):c.1328G>A (p.Cys443Tyr)	EGR2 (C393Y +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1955637	NM_000399.5(EGR2):c.879G>C (p.Arg293=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign

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