ClinVar for MedGen (Select 321947) - ClinVar

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Items: 91

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26375021.	NM_016156.6(MTMR2):c.1096del (p.Lys367fs) GRCh37: Chr11:95580961 GRCh38: Chr11:95847797	MTMR2	K295fs, K367fs	Charcot-Marie-Tooth disease type 4B1	Pathogenic (Oct 26, 2023)	criteria provided, single submitter
Select item 25849502.	NM_016156.6(MTMR2):c.771_772del (p.Arg257fs) GRCh37: Chr11:95583796-95583797 GRCh38: Chr11:95850632-95850633	MTMR2	R257fs, R185fs	Charcot-Marie-Tooth disease type 4B1	Likely pathogenic	criteria provided, single submitter
Select item 19923253.	NM_016156.6(MTMR2):c.1492T>C (p.Phe498Leu) GRCh37: Chr11:95571359 GRCh38: Chr11:95838195	MTMR2	F498L, F426L	Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Dec 5, 2022)	criteria provided, single submitter
Select item 18037814.	NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter) GRCh37: Chr11:95595489 GRCh38: Chr11:95862325	MTMR2	R102, R30	Charcot-Marie-Tooth disease type 4B1	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 13306305.	NM_016156.6(MTMR2):c.94C>G (p.His32Asp) GRCh37: Chr11:95621412 GRCh38: Chr11:95888248	MTMR2	H32D	Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Feb 4, 2021)	criteria provided, single submitter
Select item 9939986.	NM_016156.6(MTMR2):c.213A>G (p.Ala71=) GRCh37: Chr11:95598814 GRCh38: Chr11:95865650	MTMR2		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9930017.	NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs) GRCh37: Chr11:95569337-95569346 GRCh38: Chr11:95836173-95836182	MTMR2	Y507fs, Y579fs	Charcot-Marie-Tooth disease type 4B1	Pathogenic (Sep 10, 2020)	no assertion criteria provided
Select item 9780238.	NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg) GRCh37: Chr11:95595161 GRCh38: Chr11:95861997	MTMR2	C155R, C83R	Charcot-Marie-Tooth disease type 4B1	Likely pathogenic (Jan 26, 2020)	criteria provided, single submitter
Select item 8835869.	NM_016156.6(MTMR2):c.*1249G>A GRCh37: Chr11:95567205 GRCh38: Chr11:95834041	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88358510.	NM_016156.6(MTMR2):c.*1271A>G GRCh37: Chr11:95567183 GRCh38: Chr11:95834019	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88358411.	NM_016156.6(MTMR2):c.*1339T>G GRCh37: Chr11:95567115 GRCh38: Chr11:95833951	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88280012.	NM_016156.6(MTMR2):c.*1656T>G GRCh37: Chr11:95566798 GRCh38: Chr11:95833634	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88172913.	NM_016156.6(MTMR2):c.-89C>G GRCh37: Chr11:95657207 GRCh38: Chr11:95924043	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88172814.	NM_016156.6(MTMR2):c.-81G>A GRCh37: Chr11:95657199 GRCh38: Chr11:95924035	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88168715.	NM_016156.6(MTMR2):c.*212A>C GRCh37: Chr11:95568242 GRCh38: Chr11:95835078	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88168616.	NM_016156.6(MTMR2):c.*239A>T GRCh37: Chr11:95568215 GRCh38: Chr11:95835051	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 88168517.	NM_016156.6(MTMR2):c.*335T>C GRCh37: Chr11:95568119 GRCh38: Chr11:95834955	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88163818.	NM_016156.6(MTMR2):c.*2042G>C GRCh37: Chr11:95566412 GRCh38: Chr11:95833248	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88126619.	NM_016156.6(MTMR2):c.162C>T (p.Ala54=) GRCh37: Chr11:95621344 GRCh38: Chr11:95888180	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88126520.	NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile) GRCh37: Chr11:95595504 GRCh38: Chr11:95862340	MTMR2	F25I, F97I	Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88122221.	NM_016156.6(MTMR2):c.*810C>G GRCh37: Chr11:95567644 GRCh38: Chr11:95834480	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88122122.	NM_016156.6(MTMR2):c.*825G>A GRCh37: Chr11:95567629 GRCh38: Chr11:95834465	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88122023.	NM_016156.6(MTMR2):c.*1036C>T GRCh37: Chr11:95567418 GRCh38: Chr11:95834254	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 80446124.	NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) GRCh37: Chr11:95583801-95583802 GRCh38: Chr11:95850637-95850638	MTMR2	K184fs, K256fs	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Pathogenic/Likely pathogenic (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80087725.	NM_016156.6(MTMR2):c.25_26del (p.Leu10fs) GRCh37: Chr11:95657093-95657094 GRCh38: Chr11:95923929-95923930	MTMR2	L10fs	Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Sep 15, 2019)	no assertion criteria provided
Select item 68441126.	NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter) GRCh37: Chr11:95582948 GRCh38: Chr11:95849784	MTMR2	R295, R223	Charcot-Marie-Tooth disease type 4B1	Pathogenic (Apr 1, 2019)	criteria provided, single submitter
Select item 68441027.	NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) GRCh37: Chr11:95580967 GRCh38: Chr11:95847803	MTMR2	R364, R292	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B1	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68440928.	NM_016156.6(MTMR2):c.1479+1G>A GRCh37: Chr11:95574780 GRCh38: Chr11:95841616	MTMR2		Charcot-Marie-Tooth disease type 4B1	Pathogenic (Apr 1, 2019)	criteria provided, single submitter
Select item 68440829.	NM_016156.6(MTMR2):c.1490dup (p.Phe498fs) GRCh37: Chr11:95571360-95571361 GRCh38: Chr11:95838196-95838197	MTMR2	F426fs, F498fs	Charcot-Marie-Tooth disease type 4B1	Pathogenic (Apr 1, 2019)	criteria provided, single submitter
Select item 63747230.	NM_016156.6(MTMR2):c.1593+1G>A GRCh37: Chr11:95571257 GRCh38: Chr11:95838093	MTMR2		Charcot-Marie-Tooth disease type 4B1	Pathogenic (Jun 3, 2020)	criteria provided, single submitter
Select item 62339031.	NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter) GRCh37: Chr11:95569314 GRCh38: Chr11:95836150	MTMR2	Q590, Q518	Charcot-Marie-Tooth disease type 4B1	Pathogenic (Dec 30, 2017)	criteria provided, single submitter
Select item 54968532.	NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter) GRCh37: Chr11:95580893 GRCh38: Chr11:95847729	MTMR2	W388, W316	Charcot-Marie-Tooth disease type 4B1	Pathogenic (Apr 25, 2018)	no assertion criteria provided
Select item 54341933.	NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val) GRCh37: Chr11:95569341 GRCh38: Chr11:95836177	MTMR2	I581V, I509V	Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4B1	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 54338034.	NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala) GRCh37: Chr11:95590766 GRCh38: Chr11:95857602	MTMR2	P202A, P130A	Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47687735.	NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) GRCh37: Chr11:95582937 GRCh38: Chr11:95849773	MTMR2	E298D, E226D	not provided, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47687036.	NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) GRCh37: Chr11:95657103 GRCh38: Chr11:95923939	MTMR2	S6C	Inborn genetic diseases, Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 41407037.	NM_016156.6(MTMR2):c.240A>C (p.Pro80=) GRCh37: Chr11:95598787 GRCh38: Chr11:95865623	MTMR2		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B1	Benign/Likely benign (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40667938.	NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs) GRCh37: Chr11:95571312-95571313 GRCh38: Chr11:95838148-95838149	MTMR2	S442fs, S514fs	Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4	Pathogenic (Mar 5, 2020)	criteria provided, multiple submitters, no conflicts
Select item 39270939.	NM_016156.6(MTMR2):c.1431G>A (p.Ser477=) GRCh37: Chr11:95574829 GRCh38: Chr11:95841665	MTMR2		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not specified, Charcot-Marie-Tooth disease type 4B1	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 30654940.	NM_016156.5(MTMR2):c.-222G>C GRCh37: Chr11:95657340 GRCh38: Chr11:95924176	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30654841.	NM_016156.6(MTMR2):c.-82C>T GRCh37: Chr11:95657200 GRCh38: Chr11:95924036	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30654542.	NM_016156.6(MTMR2):c.212C>T (p.Ala71Val) GRCh37: Chr11:95598815 GRCh38: Chr11:95865651	MTMR2	A71V	Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30654443.	NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser) GRCh37: Chr11:95591718 GRCh38: Chr11:95858554	MTMR2	A183S, A111S	Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 30654344.	NM_016156.6(MTMR2):c.570+11T>C GRCh37: Chr11:95591684 GRCh38: Chr11:95858520	MTMR2		not provided, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30654245.	NM_016156.6(MTMR2):c.655-8A>G GRCh37: Chr11:95583921 GRCh38: Chr11:95850757	MTMR2		Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Conflicting interpretations of pathogenicity (Jan 6, 2022)	criteria provided, conflicting interpretations
Select item 30654146.	NM_016156.6(MTMR2):c.1339G>A (p.Val447Ile) GRCh37: Chr11:95578164 GRCh38: Chr11:95845000	MTMR2	V447I, V375I	Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30653947.	NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) GRCh37: Chr11:95571363 GRCh38: Chr11:95838199	MTMR2		not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not specified, Charcot-Marie-Tooth disease type 4B1	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30653848.	NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) GRCh37: Chr11:95571347 GRCh38: Chr11:95838183	MTMR2	E502Q, E430Q	not provided, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30653749.	NM_016156.6(MTMR2):c.1551C>T (p.Phe517=) GRCh37: Chr11:95571300 GRCh38: Chr11:95838136	MTMR2		not specified, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 30653650.	NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) GRCh37: Chr11:95569326 GRCh38: Chr11:95836162	MTMR2		not provided, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30653551.	NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) GRCh37: Chr11:95568581 GRCh38: Chr11:95835417	MTMR2	A602G, A530G	not provided, not specified, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30653452.	NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu) GRCh37: Chr11:95568543 GRCh38: Chr11:95835379	MTMR2	Q615E, Q543E	not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30653353.	NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) GRCh37: Chr11:95568524 GRCh38: Chr11:95835360	MTMR2	R621Q, R549Q	Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 30653254.	NM_016156.6(MTMR2):c.*85A>C GRCh37: Chr11:95568369 GRCh38: Chr11:95835205	MTMR2		not provided, Charcot-Marie-Tooth disease type 4B1	Benign/Likely benign (Aug 30, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30653155.	NM_016156.6(MTMR2):c.*133C>G GRCh37: Chr11:95568321 GRCh38: Chr11:95835157	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30653056.	NM_016156.6(MTMR2):c.*190G>A GRCh37: Chr11:95568264 GRCh38: Chr11:95835100	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30652957.	NM_016156.6(MTMR2):c.*207A>G GRCh37: Chr11:95568247 GRCh38: Chr11:95835083	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30652758.	NM_016156.6(MTMR2):c.*549G>A GRCh37: Chr11:95567905 GRCh38: Chr11:95834741	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30652659.	NM_016156.6(MTMR2):c.*660G>A GRCh37: Chr11:95567794 GRCh38: Chr11:95834630	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30652560.	NM_016156.6(MTMR2):c.*679A>C GRCh37: Chr11:95567775 GRCh38: Chr11:95834611	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30652461.	NM_016156.6(MTMR2):c.*837G>A GRCh37: Chr11:95567617 GRCh38: Chr11:95834453	MTMR2		Charcot-Marie-Tooth disease type 4B1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30652362.	NM_016156.6(MTMR2):c.*910T>A GRCh37: Chr11:95567544 GRCh38: Chr11:95834380	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30652263.	NM_016156.6(MTMR2):c.*987T>C GRCh37: Chr11:95567467 GRCh38: Chr11:95834303	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30652164.	NM_016156.6(MTMR2):c.*1066T>C GRCh37: Chr11:95567388 GRCh38: Chr11:95834224	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30652065.	NM_016156.6(MTMR2):c.*1089C>G GRCh37: Chr11:95567365 GRCh38: Chr11:95834201	MTMR2		Charcot-Marie-Tooth disease type 4B1	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30651866.	NM_016156.6(MTMR2):c.*1150C>T GRCh37: Chr11:95567304 GRCh38: Chr11:95834140	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30651567.	NM_016156.6(MTMR2):c.*1396C>T GRCh37: Chr11:95567058 GRCh38: Chr11:95833894	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30651468.	NM_016156.6(MTMR2):c.*1419G>A GRCh37: Chr11:95567035 GRCh38: Chr11:95833871	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30651369.	NM_016156.6(MTMR2):c.*1425A>G GRCh37: Chr11:95567029 GRCh38: Chr11:95833865	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30651270.	NM_016156.6(MTMR2):c.*1444C>G GRCh37: Chr11:95567010 GRCh38: Chr11:95833846	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30651171.	NM_016156.6(MTMR2):c.*1568C>T GRCh37: Chr11:95566886 GRCh38: Chr11:95833722	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30651072.	NM_016156.6(MTMR2):c.*1684A>C GRCh37: Chr11:95566770 GRCh38: Chr11:95833606	MTMR2		Charcot-Marie-Tooth disease type 4B1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30650973.	NM_016156.6(MTMR2):c.*1822T>G GRCh37: Chr11:95566632 GRCh38: Chr11:95833468	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30650874.	NM_016156.6(MTMR2):c.*1826C>A GRCh37: Chr11:95566628 GRCh38: Chr11:95833464	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30650675.	NM_016156.6(MTMR2):c.*1934T>C GRCh37: Chr11:95566520 GRCh38: Chr11:95833356	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30650576.	NM_016156.6(MTMR2):c.*1952G>A GRCh37: Chr11:95566502 GRCh38: Chr11:95833338	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30650477.	NM_016156.6(MTMR2):c.*2014T>G GRCh37: Chr11:95566440 GRCh38: Chr11:95833276	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30650378.	NM_016156.6(MTMR2):c.*2038C>G GRCh37: Chr11:95566416 GRCh38: Chr11:95833252	MTMR2		Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30650279.	NM_016156.6(MTMR2):c.*2187A>G GRCh37: Chr11:95566267 GRCh38: Chr11:95833103	MTMR2		Charcot-Marie-Tooth disease type 4B1	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30650080.	NM_016156.6(MTMR2):c.*2406C>T GRCh37: Chr11:95566048 GRCh38: Chr11:95832884	MTMR2		Charcot-Marie-Tooth disease type 4B1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 26068681.	NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) GRCh37: Chr11:95657111 GRCh38: Chr11:95923947	MTMR2	K3T	not provided, Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26068582.	NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) GRCh37: Chr11:95580926 GRCh38: Chr11:95847762	MTMR2		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified, not provided, Charcot-Marie-Tooth disease type 4B1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24577083.	NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr) GRCh37: Chr11:95657039 GRCh38: Chr11:95923875	MTMR2	S27T	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4B1	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23445684.	NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys) GRCh37: Chr11:95578167 GRCh38: Chr11:95845003	MTMR2	E446K, E374K	Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, not provided	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 23437585.	NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) GRCh37: Chr11:95568531 GRCh38: Chr11:95835367	MTMR2	S619P, S547P	not provided, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 19441686.	NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) GRCh37: Chr11:95569448 GRCh38: Chr11:95836284	MTMR2	N545S, N473S	Charcot-Marie-Tooth disease type 4, not specified, not provided, Charcot-Marie-Tooth disease type 4B1	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13827287.	NM_016156.6(MTMR2):c.80+13C>T GRCh37: Chr11:95657026 GRCh38: Chr11:95923862	MTMR2		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified, Charcot-Marie-Tooth disease type 4B1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13827188.	NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) GRCh37: Chr11:95578270 GRCh38: Chr11:95845106	MTMR2		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified, Charcot-Marie-Tooth disease type 4B1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 623489.	NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter) GRCh37: Chr11:95574816 GRCh38: Chr11:95841652	MTMR2	Q482, Q410	Charcot-Marie-Tooth disease type 4B1	Pathogenic (May 1, 2000)	no assertion criteria provided
Select item 623390.	NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) GRCh37: Chr11:95583005 GRCh38: Chr11:95849841	MTMR2	E276, E204	Charcot-Marie-Tooth disease type 4B1	Pathogenic (Jun 3, 2020)	criteria provided, single submitter
Select item 623191.	NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter) GRCh37: Chr11:95578227 GRCh38: Chr11:95845063	MTMR2	Q426, Q354	Charcot-Marie-Tooth disease type 4	Pathogenic (Aug 31, 2021)	criteria provided, single submitter

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Items: 91