ClinVar for MedGen (Select 155486) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24232331.	NC_000001.10:g.(?_161279609)_(161751809_?)dup GRCh37: Chr1:161279609-161751809	ATF6, CFAP126, DUSP12, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, HSPA6, MPZ, SDHC		Charcot-Marie-Tooth disease, type I	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 24232322.	NC_000001.10:g.(?_161275666)_(161279695_?)del GRCh37: Chr1:161275666-161279695	MPZ		Charcot-Marie-Tooth disease, type I	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 24230283.	NC_000010.10:g.(?_64572967)_(64575789_?)dup GRCh37: Chr10:64572967-64575789	EGR2		Charcot-Marie-Tooth disease, type I	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter
Select item 24228484.	NC_000017.10:g.(?_15142768)_(15164064_?)dup GRCh37: Chr17:15142768-15164064	PMP22		Charcot-Marie-Tooth disease, type I	Pathogenic (Oct 16, 2016)	criteria provided, single submitter
Select item 24228475.	NC_000017.10:g.(?_15162391)_(15164044_?)del GRCh37: Chr17:15162391-15164044	PMP22		Charcot-Marie-Tooth disease, type I	Pathogenic (Dec 11, 2021)	criteria provided, single submitter
Select item 22028776.	NM_000530.8(MPZ):c.258_263dup (p.Tyr88Ter) GRCh37: Chr1:161276682-161276683 GRCh38: Chr1:161306892-161306893	MPZ	Y88*	Charcot-Marie-Tooth disease, type I	Pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 21981257.	NM_000530.8(MPZ):c.685A>G (p.Thr229Ala) GRCh37: Chr1:161275728 GRCh38: Chr1:161305938	MPZ	T229A	Charcot-Marie-Tooth disease, type I	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 21979728.	NM_000530.8(MPZ):c.555C>T (p.Arg185=) GRCh37: Chr1:161276148 GRCh38: Chr1:161306358	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 21970049.	NM_000304.4(PMP22):c.393C>T (p.Ser131=) GRCh37: Chr17:15134324 GRCh38: Chr17:15231007	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 219561610.	NM_000399.5(EGR2):c.506C>T (p.Pro169Leu) GRCh37: Chr10:64573892 GRCh38: Chr10:62814132	EGR2	P119L, P182L, P169L	Charcot-Marie-Tooth disease, type I	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 219157611.	NM_000399.5(EGR2):c.766C>T (p.Leu256=) GRCh37: Chr10:64573632 GRCh38: Chr10:62813872	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 218358212.	NM_000399.5(EGR2):c.426C>T (p.Asn142=) GRCh37: Chr10:64573972 GRCh38: Chr10:62814212	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 218358113.	NM_000399.5(EGR2):c.475C>A (p.Pro159Thr) GRCh37: Chr10:64573923 GRCh38: Chr10:62814163	EGR2	P172T, P109T, P159T	Charcot-Marie-Tooth disease, type I	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 218229714.	NM_000399.5(EGR2):c.645G>C (p.Thr215=) GRCh37: Chr10:64573753 GRCh38: Chr10:62813993	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 217719315.	NM_000399.5(EGR2):c.182A>G (p.Asn61Ser) GRCh37: Chr10:64574216 GRCh38: Chr10:62814456	EGR2	N11S, N61S, N74S	Charcot-Marie-Tooth disease, type I	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 217214716.	NM_000530.8(MPZ):c.448G>T (p.Val150Leu) GRCh37: Chr1:161276498 GRCh38: Chr1:161306708	MPZ	V150L	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 217066817.	NM_000399.5(EGR2):c.184A>G (p.Ile62Val) GRCh37: Chr10:64574214 GRCh38: Chr10:62814454	EGR2	I12V, I62V, I75V	Charcot-Marie-Tooth disease, type I	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 215967018.	NM_000399.5(EGR2):c.170-19C>A GRCh37: Chr10:64574247 GRCh38: Chr10:62814487	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 215827919.	NM_000399.5(EGR2):c.765C>T (p.Thr255=) GRCh37: Chr10:64573633 GRCh38: Chr10:62813873	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 214813320.	NM_000399.5(EGR2):c.1072A>T (p.Thr358Ser) GRCh37: Chr10:64573326 GRCh38: Chr10:62813566	EGR2	T358S, T371S, T308S	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 214669321.	NM_000304.4(PMP22):c.345C>T (p.Ala115=) GRCh37: Chr17:15134372 GRCh38: Chr17:15231055	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 214282922.	NM_000530.8(MPZ):c.584+8G>A GRCh37: Chr1:161276111 GRCh38: Chr1:161306321	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 214119223.	NM_000399.5(EGR2):c.469A>T (p.Thr157Ser) GRCh37: Chr10:64573929 GRCh38: Chr10:62814169	EGR2	T107S, T157S, T170S	Charcot-Marie-Tooth disease, type I	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213778624.	NM_000530.8(MPZ):c.78G>A (p.Pro26=) GRCh37: Chr1:161277204 GRCh38: Chr1:161307414	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 213598125.	NM_000530.8(MPZ):c.178G>A (p.Asp60Asn) GRCh37: Chr1:161277104 GRCh38: Chr1:161307314	MPZ	D60N	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 213574526.	NM_000530.8(MPZ):c.385G>T (p.Val129Phe) GRCh37: Chr1:161276561 GRCh38: Chr1:161306771	MPZ	V129F	Charcot-Marie-Tooth disease, type I	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 213500427.	NM_000399.5(EGR2):c.171T>C (p.Asp57=) GRCh37: Chr10:64574227 GRCh38: Chr10:62814467	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 212834728.	NM_000399.5(EGR2):c.1316C>T (p.Ser439Phe) GRCh37: Chr10:64573082 GRCh38: Chr10:62813322	EGR2	S439F, S389F, S452F	Charcot-Marie-Tooth disease, type I	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 212658329.	NM_000530.8(MPZ):c.304_305insC (p.Val102fs) GRCh37: Chr1:161276641-161276642 GRCh38: Chr1:161306851-161306852	MPZ	V102fs	Charcot-Marie-Tooth disease, type I	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 212427230.	NM_000530.8(MPZ):c.448+13A>T GRCh37: Chr1:161276485 GRCh38: Chr1:161306695	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 212041131.	NM_000530.8(MPZ):c.448+2T>A GRCh37: Chr1:161276496 GRCh38: Chr1:161306706	MPZ		Charcot-Marie-Tooth disease, type I	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 211774732.	NM_000530.8(MPZ):c.209C>A (p.Pro70His) GRCh37: Chr1:161277073 GRCh38: Chr1:161307283	MPZ	P70H	Charcot-Marie-Tooth disease, type I	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 211179233.	NM_000304.4(PMP22):c.421G>A (p.Val141Met) GRCh37: Chr17:15134296 GRCh38: Chr17:15230979	PMP22	V141M	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 210993534.	NM_000530.8(MPZ):c.151T>A (p.Ser51Thr) GRCh37: Chr1:161277131 GRCh38: Chr1:161307341	MPZ	S51T	Charcot-Marie-Tooth disease, type I	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210737735.	NM_000530.8(MPZ):c.140C>T (p.Thr47Ile) GRCh37: Chr1:161277142 GRCh38: Chr1:161307352	MPZ	T47I	Charcot-Marie-Tooth disease, type I	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 209860436.	NM_000399.5(EGR2):c.1203C>G (p.Asp401Glu) GRCh37: Chr10:64573195 GRCh38: Chr10:62813435	EGR2	D351E, D401E, D414E	Charcot-Marie-Tooth disease, type I	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 209705437.	NM_000530.8(MPZ):c.687C>T (p.Thr229=) GRCh37: Chr1:161275726 GRCh38: Chr1:161305936	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 209574838.	NM_000530.8(MPZ):c.374T>C (p.Phe125Ser) GRCh37: Chr1:161276572 GRCh38: Chr1:161306782	MPZ	F125S	Charcot-Marie-Tooth disease, type I	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209512339.	NM_000304.4(PMP22):c.296C>T (p.Thr99Ile) GRCh37: Chr17:15142811 GRCh38: Chr17:15239494	PMP22	T99I	Charcot-Marie-Tooth disease, type I	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 208998240.	NM_000530.8(MPZ):c.34C>G (p.Pro12Ala) GRCh37: Chr1:161279662 GRCh38: Chr1:161309872	MPZ	P12A	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208718041.	NM_000399.5(EGR2):c.1271_1274del (p.Lys424fs) GRCh37: Chr10:64573124-64573127 GRCh38: Chr10:62813364-62813367	EGR2	K424fs, K374fs	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 208626842.	NM_000304.4(PMP22):c.78+16G>A GRCh37: Chr17:15163951 GRCh38: Chr17:15260634	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 208231843.	NM_000304.4(PMP22):c.68C>T (p.Thr23Met) GRCh37: Chr17:15163977 GRCh38: Chr17:15260660	PMP22	T23M	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 208128644.	NM_000304.4(PMP22):c.278G>C (p.Gly93Ala) GRCh37: Chr17:15142829 GRCh38: Chr17:15239512	PMP22	G93A	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 207976745.	NM_000530.8(MPZ):c.558G>T (p.Arg186Ser) GRCh37: Chr1:161276145 GRCh38: Chr1:161306355	MPZ	R186S	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 207940846.	NM_000530.8(MPZ):c.742A>G (p.Lys248Glu) GRCh37: Chr1:161275671 GRCh38: Chr1:161305881	MPZ	K248E	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 206558647.	NM_000399.5(EGR2):c.990C>G (p.Pro330=) GRCh37: Chr10:64573408 GRCh38: Chr10:62813648	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 206555648.	NM_000304.4(PMP22):c.179-17G>C GRCh37: Chr17:15142945 GRCh38: Chr17:15239628	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 205680149.	NM_000399.5(EGR2):c.384T>A (p.Ala128=) GRCh37: Chr10:64574014 GRCh38: Chr10:62814254	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 204784050.	NM_000399.5(EGR2):c.311G>A (p.Gly104Asp) GRCh37: Chr10:64574087 GRCh38: Chr10:62814327	EGR2	G117D, G54D, G104D	Charcot-Marie-Tooth disease, type I	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 204726851.	NM_000304.4(PMP22):c.369G>A (p.Glu123=) GRCh37: Chr17:15134348 GRCh38: Chr17:15231031	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 204563152.	NM_000304.4(PMP22):c.370T>C (p.Trp124Arg) GRCh37: Chr17:15134347 GRCh38: Chr17:15231030	PMP22	W124R	Charcot-Marie-Tooth disease, type I	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 204513453.	NM_000399.5(EGR2):c.1041C>T (p.Cys347=) GRCh37: Chr10:64573357 GRCh38: Chr10:62813597	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 204460454.	NM_000304.4(PMP22):c.36C>G (p.His12Gln) GRCh37: Chr17:15164009 GRCh38: Chr17:15260692	PMP22	H12Q	Charcot-Marie-Tooth disease, type I	Pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 204205855.	NM_000399.5(EGR2):c.170-14T>C GRCh37: Chr10:64574242 GRCh38: Chr10:62814482	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 204185456.	NM_000304.4(PMP22):c.79-14C>G GRCh37: Chr17:15162524 GRCh38: Chr17:15259207	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 203864857.	NM_000304.4(PMP22):c.178+7C>G GRCh37: Chr17:15162404 GRCh38: Chr17:15259087	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 203707758.	NM_000530.8(MPZ):c.728C>T (p.Ser243Phe) GRCh37: Chr1:161275685 GRCh38: Chr1:161305895	MPZ	S243F	Charcot-Marie-Tooth disease, type I	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 203588759.	NM_000304.4(PMP22):c.79-4C>G GRCh37: Chr17:15162514 GRCh38: Chr17:15259197	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 203384660.	NM_000304.4(PMP22):c.43GTGCTG[3] (p.Leu18_Leu19insValLeu) GRCh37: Chr17:15163990-15163991 GRCh38: Chr17:15260673-15260674	PMP22		Charcot-Marie-Tooth disease, type I	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 203356961.	NM_000530.8(MPZ):c.646-16_654dup GRCh37: Chr1:161275758-161275759 GRCh38: Chr1:161305968-161305969	MPZ		Charcot-Marie-Tooth disease, type I	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 203356562.	NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del) GRCh37: Chr1:161276515-161276520 GRCh38: Chr1:161306725-161306730	MPZ		Charcot-Marie-Tooth disease, type I	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 203283863.	NM_000530.8(MPZ):c.648G>A (p.Thr216=) GRCh37: Chr1:161275765 GRCh38: Chr1:161305975	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202710864.	NM_000530.8(MPZ):c.496del (p.Leu166fs) GRCh37: Chr1:161276207 GRCh38: Chr1:161306417	MPZ	L166fs	Charcot-Marie-Tooth disease, type I	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 202670065.	NM_000304.4(PMP22):c.273C>T (p.Thr91=) GRCh37: Chr17:15142834 GRCh38: Chr17:15239517	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 202288966.	NM_000399.5(EGR2):c.1357C>T (p.Leu453=) GRCh37: Chr10:64573041 GRCh38: Chr10:62813281	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 202239267.	NM_000530.8(MPZ):c.67+15T>A GRCh37: Chr1:161279614 GRCh38: Chr1:161309824	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 201674368.	NM_000399.5(EGR2):c.77A>G (p.Tyr26Cys) GRCh37: Chr10:64575713 GRCh38: Chr10:62815953	EGR2	Y39C, Y26C	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 201672269.	NM_000530.8(MPZ):c.601A>T (p.Lys201Ter) GRCh37: Chr1:161275942 GRCh38: Chr1:161306152	MPZ	K201*	Charcot-Marie-Tooth disease, type I	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 201545670.	NM_000399.5(EGR2):c.518_520del (p.Pro173_Tyr174delinsHis) GRCh37: Chr10:64573878-64573880 GRCh38: Chr10:62814118-62814120	EGR2		Charcot-Marie-Tooth disease, type I	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 201190371.	NM_000304.4(PMP22):c.189G>A (p.Gln63=) GRCh37: Chr17:15142918 GRCh38: Chr17:15239601	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 200877572.	NM_000399.5(EGR2):c.818T>C (p.Leu273Pro) GRCh37: Chr10:64573580 GRCh38: Chr10:62813820	EGR2	L223P, L286P, L273P	Charcot-Marie-Tooth disease, type I	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 200832873.	NM_000304.4(PMP22):c.109G>A (p.Asp37Asn) GRCh37: Chr17:15162480 GRCh38: Chr17:15259163	PMP22	D37N	Charcot-Marie-Tooth disease, type I	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 200691174.	NM_000530.8(MPZ):c.235-2A>G GRCh37: Chr1:161276713 GRCh38: Chr1:161306923	MPZ		Charcot-Marie-Tooth disease, type I	Likely pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 200299375.	NM_000399.5(EGR2):c.1160C>T (p.Thr387Ile) GRCh37: Chr10:64573238 GRCh38: Chr10:62813478	EGR2	T337I, T387I, T400I	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 200162876.	NM_000399.5(EGR2):c.808A>G (p.Asn270Asp) GRCh37: Chr10:64573590 GRCh38: Chr10:62813830	EGR2	N283D, N270D, N220D	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 200106477.	NM_000304.4(PMP22):c.78+2del GRCh37: Chr17:15163965 GRCh38: Chr17:15260648	PMP22		Charcot-Marie-Tooth disease, type I	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 199913378.	NM_000530.8(MPZ):c.646-20T>G GRCh37: Chr1:161275787 GRCh38: Chr1:161305997	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 199788279.	NM_000399.5(EGR2):c.443C>A (p.Pro148His) GRCh37: Chr10:64573955 GRCh38: Chr10:62814195	EGR2	P161H, P148H, P98H	Charcot-Marie-Tooth disease, type I	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 199596380.	NM_000399.5(EGR2):c.676T>A (p.Tyr226Asn) GRCh37: Chr10:64573722 GRCh38: Chr10:62813962	EGR2	Y226N, Y239N, Y176N	Charcot-Marie-Tooth disease, type I	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 198670681.	NM_000399.5(EGR2):c.983A>G (p.Asn328Ser) GRCh37: Chr10:64573415 GRCh38: Chr10:62813655	EGR2	N278S, N328S, N341S	Charcot-Marie-Tooth disease, type I	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 198050482.	NM_000304.4(PMP22):c.320-18G>A GRCh37: Chr17:15134415 GRCh38: Chr17:15231098	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 197429083.	NM_000304.4(PMP22):c.79-4C>A GRCh37: Chr17:15162514 GRCh38: Chr17:15259197	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 196973284.	NM_000530.8(MPZ):c.474G>A (p.Leu158=) GRCh37: Chr1:161276229 GRCh38: Chr1:161306439	MPZ		Charcot-Marie-Tooth disease, type I	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 196694085.	NM_000399.5(EGR2):c.1328G>A (p.Cys443Tyr) GRCh37: Chr10:64573070 GRCh38: Chr10:62813310	EGR2	C393Y, C456Y, C443Y	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 195916886.	NM_000530.8(MPZ):c.378T>C (p.Thr126=) GRCh37: Chr1:161276568 GRCh38: Chr1:161306778	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 195673187.	NM_000530.8(MPZ):c.584+18G>C GRCh37: Chr1:161276101 GRCh38: Chr1:161306311	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 195563788.	NM_000399.5(EGR2):c.879G>C (p.Arg293=) GRCh37: Chr10:64573519 GRCh38: Chr10:62813759	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 195533489.	NM_000399.5(EGR2):c.943C>T (p.Leu315=) GRCh37: Chr10:64573455 GRCh38: Chr10:62813695	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 195053090.	NM_000399.5(EGR2):c.1170C>T (p.Arg390=) GRCh37: Chr10:64573228 GRCh38: Chr10:62813468	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 194274691.	NM_000530.8(MPZ):c.234+13G>A GRCh37: Chr1:161277035 GRCh38: Chr1:161307245	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 193645592.	NM_000399.5(EGR2):c.170-8C>T GRCh37: Chr10:64574236 GRCh38: Chr10:62814476	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 193619993.	NM_000304.4(PMP22):c.350A>G (p.Tyr117Cys) GRCh37: Chr17:15134367 GRCh38: Chr17:15231050	PMP22	Y117C	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 193479894.	NM_000399.5(EGR2):c.221C>T (p.Pro74Leu) GRCh37: Chr10:64574177 GRCh38: Chr10:62814417	EGR2	P24L, P87L, P74L	Charcot-Marie-Tooth disease, type I	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 193317495.	NM_000530.8(MPZ):c.379T>G (p.Cys127Gly) GRCh37: Chr1:161276567 GRCh38: Chr1:161306777	MPZ	C127G	Charcot-Marie-Tooth disease, type I	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 192904996.	NM_000530.8(MPZ):c.195C>G (p.Thr65=) GRCh37: Chr1:161277087 GRCh38: Chr1:161307297	MPZ		Charcot-Marie-Tooth disease, type I	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 192722197.	NM_000399.5(EGR2):c.508CCT[3] (p.Pro173del) GRCh37: Chr10:64573879-64573881 GRCh38: Chr10:62814119-62814121	EGR2	P186del, P173del, P123del	Charcot-Marie-Tooth disease, type I	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 191745998.	NM_000399.5(EGR2):c.978C>T (p.Tyr326=) GRCh37: Chr10:64573420 GRCh38: Chr10:62813660	EGR2		Charcot-Marie-Tooth disease, type I	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 191251399.	NM_000530.8(MPZ):c.349C>A (p.Leu117Ile) GRCh37: Chr1:161276597 GRCh38: Chr1:161306807	MPZ	L117I	Charcot-Marie-Tooth disease, type I	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 1907763100.	NM_000304.4(PMP22):c.319+11G>A GRCh37: Chr17:15142777 GRCh38: Chr17:15239460	PMP22		Charcot-Marie-Tooth disease, type I	Likely benign (Aug 31, 2022)	criteria provided, single submitter

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