ClinVar for MedGen (Select 371304) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24440241.	NM_006096.4(NDRG1):c.698G>A (p.Ser233Asn) GRCh37: Chr8:134262683 GRCh38: Chr8:133250440	NDRG1	S152N, S167N, S233N, S250N	Charcot-Marie-Tooth disease type 4D	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24320782.	NM_006096.4(NDRG1):c.259C>T (p.Gln87Ter) GRCh37: Chr8:134274357 GRCh38: Chr8:133262114	NDRG1	Q21, Q6, Q87*	Charcot-Marie-Tooth disease type 4D	Likely pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 17056463.	NM_006096.4(NDRG1):c.390-2A>G GRCh37: Chr8:134270671 GRCh38: Chr8:133258428	NDRG1		Charcot-Marie-Tooth disease type 4D	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 13391674.	NM_006096.4(NDRG1):c.943+5G>A GRCh37: Chr8:134254261 GRCh38: Chr8:133242018	NDRG1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13233355.	NM_006096.4(NDRG1):c.327-1G>A GRCh37: Chr8:134271474 GRCh38: Chr8:133259231	NDRG1		Charcot-Marie-Tooth disease type 4D	Pathogenic (Jul 25, 2019)	criteria provided, single submitter
Select item 12101216.	NM_006096.4(NDRG1):c.537+2_537+10del GRCh37: Chr8:134269010-134269018 GRCh38: Chr8:133256767-133256775	NDRG1		Charcot-Marie-Tooth disease type 4D	Pathogenic (Aug 23, 2021)	no assertion criteria provided
Select item 11852317.	NM_006096.4(NDRG1):c.327-33C>T GRCh37: Chr8:134271506 GRCh38: Chr8:133259263	NDRG1		Charcot-Marie-Tooth disease type 4D, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10485988.	NM_006096.4(NDRG1):c.237C>A (p.Tyr79Ter) GRCh37: Chr8:134274379 GRCh38: Chr8:133262136	NDRG1	Y13, Y79	Charcot-Marie-Tooth disease type 4D	Pathogenic (Dec 1, 2020)	criteria provided, single submitter
Select item 10457629.	NM_006096.4(NDRG1):c.947C>G (p.Pro316Arg) GRCh37: Chr8:134251359 GRCh38: Chr8:133239116	NDRG1	P235R, P250R, P316R, P333R	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 103307110.	NM_006096.4(NDRG1):c.537+18C>T GRCh37: Chr8:134269002 GRCh38: Chr8:133256759	NDRG1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 101885311.	NM_006096.4(NDRG1):c.538-5T>A GRCh37: Chr8:134266843 GRCh38: Chr8:133254600	NDRG1		Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 100640212.	NM_006096.4(NDRG1):c.731C>T (p.Pro244Leu) GRCh37: Chr8:134260982 GRCh38: Chr8:133248739	LOC126860531, NDRG1	P163L, P178L, P244L, P261L	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 100000913.	NM_006096.4(NDRG1):c.410T>C (p.Met137Thr) GRCh37: Chr8:134270649 GRCh38: Chr8:133258406	NDRG1	M137T, M56T, M71T	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 99438614.	NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe) GRCh37: Chr8:134266793 GRCh38: Chr8:133254550	NDRG1	L114F, L129F, L195F, L212F	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99014015.	NM_006096.4(NDRG1):c.591G>A (p.Gly197=) GRCh37: Chr8:134266785 GRCh38: Chr8:133254542	NDRG1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Likely benign (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96872216.	NM_006096.4(NDRG1):c.699-3C>T GRCh37: Chr8:134261017 GRCh38: Chr8:133248774	LOC126860531, NDRG1		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4	Uncertain significance (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96838917.	NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys) GRCh37: Chr8:134276810 GRCh38: Chr8:133264567	NDRG1	Y62C	Charcot-Marie-Tooth disease type 4	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 96789518.	NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp) GRCh37: Chr8:134296548 GRCh38: Chr8:133284305	NDRG1	R3W	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96747319.	NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg) GRCh37: Chr8:134251150 GRCh38: Chr8:133238907	NDRG1	G386R, G403R, G305R, G320R	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases	Uncertain significance (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96663720.	NM_006096.4(NDRG1):c.140C>T (p.Thr47Met) GRCh37: Chr8:134276855 GRCh38: Chr8:133264612	NDRG1	T47M	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96613021.	NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln) GRCh37: Chr8:134251254 GRCh38: Chr8:133239011	NDRG1	R285Q, R270Q, R351Q, R368Q	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 96488722.	NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser) GRCh37: Chr8:134274297 GRCh38: Chr8:133262054	NDRG1	P26S, P41S, P107S	Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95961223.	NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg) GRCh37: Chr8:134254310 GRCh38: Chr8:133242067	NDRG1	K219R, K317R, K300R, K234R	Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95590024.	NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr) GRCh37: Chr8:134276819 GRCh38: Chr8:133264576	NDRG1	I59T	Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 94477325.	NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del) GRCh37: Chr8:134251126-134251128 GRCh38: Chr8:133238883-133238885	NDRG1	S327del, S393del, S312del, S410del	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 93798426.	NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys) GRCh37: Chr8:134251249 GRCh38: Chr8:133239006	NDRG1	R272C, R287C, R353C, R370C	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93503227.	NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser) GRCh37: Chr8:134260123 GRCh38: Chr8:133247880	LOC126860531, NDRG1	A187S, A202S, A268S, A285S	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93495528.	NM_006096.4(NDRG1):c.805G>A (p.Val269Met) GRCh37: Chr8:134260120 GRCh38: Chr8:133247877	LOC126860531, NDRG1	V203M, V269M, V188M, V286M	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 91739129.	NM_006096.4(NDRG1):c.-18-2_-18-1del GRCh37: Chr8:134296573-134296574 GRCh38: Chr8:133284330-133284331	NDRG1		Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4D	Benign/Likely benign (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91738930.	NM_006096.4(NDRG1):c.699-16C>G GRCh37: Chr8:134261030 GRCh38: Chr8:133248787	LOC126860531, NDRG1		not provided, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91715531.	NM_006096.4(NDRG1):c.100-3C>T GRCh37: Chr8:134276898 GRCh38: Chr8:133264655	NDRG1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease	Conflicting interpretations of pathogenicity (Jul 12, 2019)	criteria provided, conflicting interpretations
Select item 91689732.	NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr) GRCh37: Chr8:134269069 GRCh38: Chr8:133256826	NDRG1	I163T, I82T, I97T	Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91158433.	NM_006096.4(NDRG1):c.-99A>G GRCh37: Chr8:134309457 GRCh38: Chr8:133297214	LOC130001213, NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91151934.	NM_006096.4(NDRG1):c.951G>A (p.Ser317=) GRCh37: Chr8:134251355 GRCh38: Chr8:133239112	NDRG1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 91146335.	NM_006096.4(NDRG1):c.*791C>T GRCh37: Chr8:134250330 GRCh38: Chr8:133238087	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91146236.	NM_006096.4(NDRG1):c.*854G>A GRCh37: Chr8:134250267 GRCh38: Chr8:133238024	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91126437.	NM_006096.4(NDRG1):c.*1179G>C GRCh37: Chr8:134249942 GRCh38: Chr8:133237699	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91037138.	NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala) GRCh37: Chr8:134296551 GRCh38: Chr8:133284308	NDRG1	S2A	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91037039.	NM_006096.4(NDRG1):c.270C>T (p.Ala90=) GRCh37: Chr8:134274346 GRCh38: Chr8:133262103	NDRG1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Conflicting interpretations of pathogenicity (Jul 31, 2022)	criteria provided, conflicting interpretations
Select item 91030940.	NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile) GRCh37: Chr8:134251306 GRCh38: Chr8:133239063	NDRG1	V253I, V268I, V334I, V351I	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91030841.	NM_006096.4(NDRG1):c.1041C>T (p.Ser347=) GRCh37: Chr8:134251265 GRCh38: Chr8:133239022	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91030742.	NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys) GRCh37: Chr8:134251219 GRCh38: Chr8:133238976	NDRG1	R282C, R380C, R297C, R363C	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90942143.	NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr) GRCh37: Chr8:134274294 GRCh38: Chr8:133262051	NDRG1	A27T, A108T, A42T	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90942044.	NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu) GRCh37: Chr8:134271413 GRCh38: Chr8:133259170	NDRG1	F48L, F63L, F129L	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90934345.	NM_006096.4(NDRG1):c.*31T>G GRCh37: Chr8:134251090 GRCh38: Chr8:133238847	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90934246.	NM_006096.4(NDRG1):c.*48C>A GRCh37: Chr8:134251073 GRCh38: Chr8:133238830	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90934147.	NM_006096.4(NDRG1):c.*91G>A GRCh37: Chr8:134251030 GRCh38: Chr8:133238787	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90934048.	NM_006096.4(NDRG1):c.*228G>A GRCh37: Chr8:134250893 GRCh38: Chr8:133238650	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90927149.	NM_006096.4(NDRG1):c.*1299C>T GRCh37: Chr8:134249822 GRCh38: Chr8:133237579	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90927050.	NM_006096.4(NDRG1):c.*1300G>C GRCh37: Chr8:134249821 GRCh38: Chr8:133237578	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90926951.	NM_006096.4(NDRG1):c.*1339C>T GRCh37: Chr8:134249782 GRCh38: Chr8:133237539	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90926852.	NM_006096.4(NDRG1):c.*1361C>A GRCh37: Chr8:134249760 GRCh38: Chr8:133237517	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 90926753.	NM_006096.4(NDRG1):c.*1621C>T GRCh37: Chr8:134249500 GRCh38: Chr8:133237257	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90863054.	NM_006096.3(NDRG1):c.-166A>C GRCh37: Chr8:134309524 GRCh38: Chr8:133297281	LOC130001213, NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90855955.	NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys) GRCh37: Chr8:134262747 GRCh38: Chr8:133250504	NDRG1	R131C, R229C, R146C, R212C	Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90849256.	NM_006096.4(NDRG1):c.*308C>T GRCh37: Chr8:134250813 GRCh38: Chr8:133238570	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90849157.	NM_006096.4(NDRG1):c.*377G>A GRCh37: Chr8:134250744 GRCh38: Chr8:133238501	NDRG1		Charcot-Marie-Tooth disease type 4D	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90849058.	NM_006096.4(NDRG1):c.*392G>A GRCh37: Chr8:134250729 GRCh38: Chr8:133238486	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90848959.	NM_006096.4(NDRG1):c.*403G>A GRCh37: Chr8:134250718 GRCh38: Chr8:133238475	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90848860.	NM_006096.4(NDRG1):c.*525G>A GRCh37: Chr8:134250596 GRCh38: Chr8:133238353	NDRG1		Charcot-Marie-Tooth disease type 4D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 85880261.	NM_006096.4(NDRG1):c.643A>G (p.Ile215Val) GRCh37: Chr8:134262738 GRCh38: Chr8:133250495	NDRG1	I134V, I149V, I215V, I232V	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 85075462.	NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys) GRCh37: Chr8:134269101 GRCh38: Chr8:133256858	NDRG1	N152K, N71K, N86K	Charcot-Marie-Tooth disease type 4	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 84581363.	NM_006096.4(NDRG1):c.1011G>A (p.Leu337=) GRCh37: Chr8:134251295 GRCh38: Chr8:133239052	NDRG1		Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 83783664.	NM_006096.4(NDRG1):c.217T>C (p.Tyr73His) GRCh37: Chr8:134274399 GRCh38: Chr8:133262156	NDRG1	Y7H, Y73H	Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 81031765.	NM_006096.4(NDRG1):c.1062_1091del (p.340_349TRSRSHTSEG[2]) GRCh37: Chr8:134251215-134251244 GRCh38: Chr8:133238972-133239001	NDRG1		Charcot-Marie-Tooth disease type 4, not provided, Inborn genetic diseases	Uncertain significance (Jan 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80089066.	NM_006096.4(NDRG1):c.944-1G>T GRCh37: Chr8:134251363 GRCh38: Chr8:133239120	NDRG1		not provided, Charcot-Marie-Tooth disease type 4D	Pathogenic/Likely pathogenic (Aug 8, 2019)	criteria provided, multiple submitters, no conflicts
Select item 75909367.	NM_006096.4(NDRG1):c.855+8G>A GRCh37: Chr8:134258851 GRCh38: Chr8:133246608	NDRG1		Charcot-Marie-Tooth disease type 4	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 70491868.	NM_006096.4(NDRG1):c.594+10G>A GRCh37: Chr8:134266772 GRCh38: Chr8:133254529	NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 70116869.	NM_006096.4(NDRG1):c.804C>T (p.Ala268=) GRCh37: Chr8:134260121 GRCh38: Chr8:133247878	LOC126860531, NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 70032470.	NM_006096.4(NDRG1):c.594+9C>T GRCh37: Chr8:134266773 GRCh38: Chr8:133254530	NDRG1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70018271.	NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) GRCh37: Chr8:134270656 GRCh38: Chr8:133258413	NDRG1	I135V, I54V, I69V	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 70006972.	NM_006096.4(NDRG1):c.987C>T (p.Ala329=) GRCh37: Chr8:134251319 GRCh38: Chr8:133239076	NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 69927873.	NM_006096.4(NDRG1):c.1092G>A (p.Ser364=) GRCh37: Chr8:134251214 GRCh38: Chr8:133238971	NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 69725474.	NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) GRCh37: Chr8:134270611 GRCh38: Chr8:133258368	NDRG1	A69S, A150S, A84S	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 69569775.	NM_006096.4(NDRG1):c.528C>T (p.Ala176=) GRCh37: Chr8:134269029 GRCh38: Chr8:133256786	NDRG1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, not provided	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 68959876.	NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile) GRCh37: Chr8:134256615 GRCh38: Chr8:133244372	NDRG1	L211I, L226I, L292I, L309I	Charcot-Marie-Tooth disease type 4, not specified, Charcot-Marie-Tooth disease type 4D	Conflicting interpretations of pathogenicity (May 21, 2022)	criteria provided, conflicting interpretations
Select item 67344977.	NM_006096.4(NDRG1):c.891+39C>A GRCh37: Chr8:134256559 GRCh38: Chr8:133244316	NDRG1		not provided, Charcot-Marie-Tooth disease type 4D	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67344878.	NM_006096.4(NDRG1):c.699-51A>C GRCh37: Chr8:134261065 GRCh38: Chr8:133248822	LOC126860531, NDRG1		not provided, Charcot-Marie-Tooth disease type 4D	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67338879.	NM_006096.4(NDRG1):c.698+84A>G GRCh37: Chr8:134262599 GRCh38: Chr8:133250356	NDRG1		not provided, Charcot-Marie-Tooth disease type 4D	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67242180.	NM_006096.4(NDRG1):c.389+82G>T GRCh37: Chr8:134271329 GRCh38: Chr8:133259086	NDRG1		not provided, Charcot-Marie-Tooth disease type 4D	Likely benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67103481.	NM_006096.4(NDRG1):c.327-48C>G GRCh37: Chr8:134271521 GRCh38: Chr8:133259278	NDRG1		not provided, Charcot-Marie-Tooth disease type 4D	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67053982.	NM_006096.4(NDRG1):c.450+61A>G GRCh37: Chr8:134270548 GRCh38: Chr8:133258305	NDRG1		not provided, Charcot-Marie-Tooth disease type 4D	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66764983.	NM_006096.4(NDRG1):c.855+148T>C GRCh37: Chr8:134258711 GRCh38: Chr8:133246468	NDRG1		Charcot-Marie-Tooth disease type 4D, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66764384.	NM_006096.4(NDRG1):c.538-132G>C GRCh37: Chr8:134266970 GRCh38: Chr8:133254727	NDRG1		not provided, Charcot-Marie-Tooth disease type 4D	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66401985.	NM_006096.4(NDRG1):c.167G>A (p.Arg56Gln) GRCh37: Chr8:134276828 GRCh38: Chr8:133264585	NDRG1	R56Q	Charcot-Marie-Tooth disease type 4	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 66206186.	NM_006096.4(NDRG1):c.1046G>A (p.Gly349Asp) GRCh37: Chr8:134251260 GRCh38: Chr8:133239017	NDRG1	G283D, G349D, G268D, G366D	Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 65677787.	NM_006096.4(NDRG1):c.1091C>T (p.Ser364Leu) GRCh37: Chr8:134251215 GRCh38: Chr8:133238972	NDRG1	S298L, S283L, S364L, S381L	Charcot-Marie-Tooth disease type 4	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 65568388.	NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr) GRCh37: Chr8:134251153 GRCh38: Chr8:133238910	NDRG1	A385T, A304T, A319T, A402T	not provided, Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64984589.	NM_006096.4(NDRG1):c.426C>T (p.Gly142=) GRCh37: Chr8:134270633 GRCh38: Chr8:133258390	NDRG1		Charcot-Marie-Tooth disease type 4	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 64953890.	NM_006096.4(NDRG1):c.158A>G (p.Lys53Arg) GRCh37: Chr8:134276837 GRCh38: Chr8:133264594	NDRG1	K53R	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4	Uncertain significance (Mar 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64917691.	NM_006096.4(NDRG1):c.582C>G (p.His194Gln) GRCh37: Chr8:134266794 GRCh38: Chr8:133254551	NDRG1	H128Q, H113Q, H194Q, H211Q	Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 63952492.	NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) GRCh37: Chr8:134251224-134251253 GRCh38: Chr8:133238981-133239010	NDRG1		Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4D	Conflicting interpretations of pathogenicity (May 7, 2023)	criteria provided, conflicting interpretations
Select item 57856993.	NM_006096.4(NDRG1):c.956G>A (p.Ser319Asn) GRCh37: Chr8:134251350 GRCh38: Chr8:133239107	NDRG1	S319N, S238N, S253N, S336N	Charcot-Marie-Tooth disease type 4	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 57302694.	NM_006096.4(NDRG1):c.950C>T (p.Ser317Leu) GRCh37: Chr8:134251356 GRCh38: Chr8:133239113	NDRG1	S317L, S236L, S251L, S334L	Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 57237495.	NM_006096.4(NDRG1):c.166C>T (p.Arg56Trp) GRCh37: Chr8:134276829 GRCh38: Chr8:133264586	NDRG1	R56W	Charcot-Marie-Tooth disease type 4, Inborn genetic diseases	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56853896.	NM_006096.4(NDRG1):c.563C>T (p.Pro188Leu) GRCh37: Chr8:134266813 GRCh38: Chr8:133254570	NDRG1	P188L, P107L, P122L, P205L	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56676897.	NM_006096.4(NDRG1):c.311C>A (p.Ala104Asp) GRCh37: Chr8:134274305 GRCh38: Chr8:133262062	NDRG1	A104D, A38D, A23D	Charcot-Marie-Tooth disease type 4	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 54344498.	NM_006096.4(NDRG1):c.528C>G (p.Ala176=) GRCh37: Chr8:134269029 GRCh38: Chr8:133256786	NDRG1		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 54343699.	NM_006096.4(NDRG1):c.212C>A (p.Thr71Asn) GRCh37: Chr8:134274404 GRCh38: Chr8:133262161	NDRG1	T71N, T5N	Charcot-Marie-Tooth disease type 4	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 543429100.	NM_006096.4(NDRG1):c.613G>A (p.Val205Met) GRCh37: Chr8:134262768 GRCh38: Chr8:133250525	NDRG1	V205M, V139M, V124M, V222M	Charcot-Marie-Tooth disease type 4, not provided, Inborn genetic diseases	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts

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