ClinVar for MedGen (Select 124377) - ClinVar

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Items: 100

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25055301.	NM_000530.8(MPZ):c.463G>A (p.Gly155Arg) GRCh37: Chr1:161276240 GRCh38: Chr1:161306450	MPZ	G155R	Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D	Uncertain significance (Jan 1, 2023)	criteria provided, single submitter
Select item 24981942.	NM_000530.8(MPZ):c.212A>G (p.Glu71Gly) GRCh37: Chr1:161277070 GRCh38: Chr1:161307280	MPZ	E71G	Charcot-Marie-Tooth disease type 1B	Uncertain significance (Mar 31, 2023)	no assertion criteria provided
Select item 17100763.	NM_000530.8(MPZ):c.585-2A>G GRCh37: Chr1:161275960 GRCh38: Chr1:161306170	MPZ		Charcot-Marie-Tooth disease type 1B	Likely pathogenic (Nov 15, 2021)	criteria provided, single submitter
Select item 16859534.	NM_000530.8(MPZ):c.401A>T (p.Asp134Val) GRCh37: Chr1:161276545 GRCh38: Chr1:161306755	MPZ	D134V	Charcot-Marie-Tooth disease type 1B	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16853765.	NM_000530.8(MPZ):c.449-2A>G GRCh37: Chr1:161276256 GRCh38: Chr1:161306466	MPZ		Charcot-Marie-Tooth disease type 1B	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 10674796.	NM_000530.8(MPZ):c.277G>A (p.Gly93Arg) GRCh37: Chr1:161276669 GRCh38: Chr1:161306879	MPZ	G93R	Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I	Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9453067.	NM_000530.8(MPZ):c.303G>T (p.Trp101Cys) GRCh37: Chr1:161276643 GRCh38: Chr1:161306853	MPZ	W101C	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B	Likely pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8764168.	NM_000530.8(MPZ):c.*360C>G GRCh37: Chr1:161275306 GRCh38: Chr1:161305516	MPZ		Neuropathy, congenital hypomyelinating, 2, not provided, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Conflicting interpretations of pathogenicity (Aug 24, 2021)	criteria provided, conflicting interpretations
Select item 8764159.	NM_000530.8(MPZ):c.*369C>T GRCh37: Chr1:161275297 GRCh38: Chr1:161305507	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87637310.	NM_000530.8(MPZ):c.*752G>A GRCh37: Chr1:161274914 GRCh38: Chr1:161305124	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87625411.	NM_000530.8(MPZ):c.*903G>A GRCh37: Chr1:161274763 GRCh38: Chr1:161304973	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87549512.	NM_000530.8(MPZ):c.184A>G (p.Ile62Val) GRCh37: Chr1:161277098 GRCh38: Chr1:161307308	MPZ	I62V	Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87538413.	NM_000530.8(MPZ):c.*435T>G GRCh37: Chr1:161275231 GRCh38: Chr1:161305441	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87538314.	NM_000530.8(MPZ):c.*522C>A GRCh37: Chr1:161275144 GRCh38: Chr1:161305354	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87451615.	NM_000530.8(MPZ):c.*102C>T GRCh37: Chr1:161275564 GRCh38: Chr1:161305774	MPZ		Roussy-Lévy syndrome, Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87446616.	NM_000530.8(MPZ):c.*341A>G GRCh37: Chr1:161275325 GRCh38: Chr1:161305535	MPZ		Roussy-Lévy syndrome, Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87357417.	NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) GRCh37: Chr1:161276502 GRCh38: Chr1:161306712	MPZ	E148D	Roussy-Lévy syndrome, Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 86191018.	NM_000530.8(MPZ):c.403A>T (p.Ile135Leu) GRCh37: Chr1:161276543 GRCh38: Chr1:161306753	MPZ	I135L	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B	Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65815019.	NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) GRCh37: Chr1:161276584 GRCh38: Chr1:161306794	MPZ	D121G	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63792820.	NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) GRCh37: Chr1:161277088 GRCh38: Chr1:161307298	MPZ	T65N	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63732921.	NM_000530.8(MPZ):c.449-9C>T GRCh37: Chr1:161276263 GRCh38: Chr1:161306473	MPZ		Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I	Likely benign (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63732722.	NM_000530.8(MPZ):c.190_192del (p.Phe64del) GRCh37: Chr1:161277090-161277092 GRCh38: Chr1:161307300-161307302	MPZ	F64del	Charcot-Marie-Tooth disease type 1B	Likely pathogenic (Jan 17, 2023)	criteria provided, single submitter
Select item 63732323.	NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) GRCh37: Chr1:161277181 GRCh38: Chr1:161307391	MPZ	T34I	Charcot-Marie-Tooth disease type 1B	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 57526724.	NM_024577.4(SH3TC2):c.1177+5G>A GRCh37: Chr5:148408235 GRCh38: Chr5:149028672	SH3TC2		Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 1B	Conflicting interpretations of pathogenicity (Dec 23, 2022)	criteria provided, conflicting interpretations
Select item 55947625.	Single allele			Charcot-Marie-Tooth disease type 1B, Migraine, familial hemiplegic, 2, Paragangliomas 3, Variegate porphyria	Pathogenic (Apr 13, 2018)	criteria provided, single submitter
Select item 53168426.	NM_000530.8(MPZ):c.428C>T (p.Thr143Met) GRCh37: Chr1:161276518 GRCh38: Chr1:161306728	MPZ	T143M	Neuropathy, congenital hypomyelinating, 2, Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome	Uncertain significance (Aug 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 46279927.	NM_000530.8(MPZ):c.662C>T (p.Ala221Val) GRCh37: Chr1:161275751 GRCh38: Chr1:161305961	MPZ	A221V	Charcot-Marie-Tooth disease, type I	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 46279728.	NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) GRCh37: Chr1:161276549 GRCh38: Chr1:161306759	MPZ	P133T	Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease, type I	Pathogenic/Likely pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44953629.	NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) GRCh37: Chr1:161276546 GRCh38: Chr1:161306756	MPZ	D134N	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B, not provided	Conflicting interpretations of pathogenicity (Jun 15, 2022)	criteria provided, conflicting interpretations
Select item 44773430.	NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) GRCh37: Chr1:161275705-161275707 GRCh38: Chr1:161305915-161305917	MPZ	K236del	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2I, not provided	Conflicting interpretations of pathogenicity (Jan 9, 2023)	criteria provided, conflicting interpretations
Select item 41167431.	NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) GRCh37: Chr1:161276645 GRCh38: Chr1:161306855	MPZ	W101R	Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I	Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29331532.	NM_000530.8(MPZ):c.-49C>A GRCh37: Chr1:161279744 GRCh38: Chr1:161309954	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 29331433.	NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) GRCh37: Chr1:161277205 GRCh38: Chr1:161307415	MPZ	P26L	Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Conflicting interpretations of pathogenicity (Apr 20, 2022)	criteria provided, conflicting interpretations
Select item 29331334.	NM_000530.8(MPZ):c.504G>A (p.Val168=) GRCh37: Chr1:161276199 GRCh38: Chr1:161306409	MPZ		Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease, not provided, Neuropathy, congenital hypomyelinating, 2, not specified	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29331135.	NM_000530.8(MPZ):c.*52G>A GRCh37: Chr1:161275614 GRCh38: Chr1:161305824	MPZ	G267S	Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 29331036.	NM_000530.8(MPZ):c.*195G>T GRCh37: Chr1:161275471 GRCh38: Chr1:161305681	MPZ		Neuropathy, congenital hypomyelinating, 2, not provided, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 29330937.	NM_000530.8(MPZ):c.*251C>G GRCh37: Chr1:161275415 GRCh38: Chr1:161305625	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29330838.	NM_000530.8(MPZ):c.*568C>G GRCh37: Chr1:161275098 GRCh38: Chr1:161305308	MPZ		Neuropathy, congenital hypomyelinating, 2, not provided, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Benign/Likely benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29330739.	NM_000530.8(MPZ):c.*624C>T GRCh37: Chr1:161275042 GRCh38: Chr1:161305252	MPZ		Neuropathy, congenital hypomyelinating, 2, not provided, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Benign/Likely benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29330640.	NM_000530.8(MPZ):c.*681A>T GRCh37: Chr1:161274985 GRCh38: Chr1:161305195	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29330541.	NM_000530.8(MPZ):c.*743C>T GRCh37: Chr1:161274923 GRCh38: Chr1:161305133	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 29330442.	NM_000530.8(MPZ):c.*761A>G GRCh37: Chr1:161274905 GRCh38: Chr1:161305115	MPZ		Neuropathy, congenital hypomyelinating, 2, not provided, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29330143.	NM_000530.8(MPZ):c.*954C>A GRCh37: Chr1:161274712 GRCh38: Chr1:161304922	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29330044.	NM_000530.8(MPZ):c.*1020G>A GRCh37: Chr1:161274646 GRCh38: Chr1:161304856	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29329945.	NM_000530.8(MPZ):c.*1048A>T GRCh37: Chr1:161274618 GRCh38: Chr1:161304828	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 29329846.	NM_000530.8(MPZ):c.*1074A>C GRCh37: Chr1:161274592 GRCh38: Chr1:161304802	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 24657247.	NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) GRCh37: Chr1:161275906 GRCh38: Chr1:161306116	MPZ	G213R	Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, Inborn genetic diseases, not provided, not specified, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 24652448.	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) GRCh37: Chr1:161277149 GRCh38: Chr1:161307359	MPZ	R45W	Charcot-Marie-Tooth disease, type I, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Dejerine-Sottas disease, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 4E, not provided	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 24612149.	NM_000530.8(MPZ):c.188_190del (p.Ser63del) GRCh37: Chr1:161277092-161277094 GRCh38: Chr1:161307302-161307304	MPZ	S63del	Charcot-Marie-Tooth disease, type I, not provided	Pathogenic (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 24602950.	NM_000530.8(MPZ):c.584+2T>G GRCh37: Chr1:161276117 GRCh38: Chr1:161306327	MPZ		not provided	Pathogenic (Nov 19, 2015)	criteria provided, single submitter
Select item 24308951.	NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) GRCh37: Chr1:161276543 GRCh38: Chr1:161306753	MPZ	I135L	Charcot-Marie-Tooth disease type 1B	Pathogenic (Aug 18, 2015)	criteria provided, single submitter
Select item 24306052.	Single allele GRCh37: Chr1:161279434-161299373 GRCh38: Chr1:161309667-161329606	MPZ, SDHC		Charcot-Marie-Tooth disease type 1B	Likely pathogenic (Sep 17, 2015)	criteria provided, single submitter
Select item 24305853.	Single allele GRCh37: Chr1:161275597-161275598 GRCh38: Chr1:161305807-161305808	MPZ		Charcot-Marie-Tooth disease type 1B	Likely pathogenic (Sep 17, 2015)	criteria provided, single submitter
Select item 23787554.	NM_000530.8(MPZ):c.200G>A (p.Arg67His) GRCh37: Chr1:161277082 GRCh38: Chr1:161307292	MPZ	R67H	Neuropathy, congenital hypomyelinating, 2, not provided, not specified, Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 21723455.	NM_000530.8(MPZ):c.646-10_650del GRCh37: Chr1:161275763-161275777 GRCh38: Chr1:161305973-161305987	MPZ		Charcot-Marie-Tooth disease type 1B	Pathogenic (Aug 7, 2015)	criteria provided, single submitter
Select item 21723356.	NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) GRCh37: Chr1:161276536 GRCh38: Chr1:161306746	MPZ	G137D	Charcot-Marie-Tooth disease type 1B	Pathogenic (Sep 3, 2015)	criteria provided, single submitter
Select item 21696357.	NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) GRCh37: Chr1:161276252 GRCh38: Chr1:161306462	MPZ	P151T	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome, Dejerine-Sottas disease, not provided	Conflicting interpretations of pathogenicity (Sep 2, 2021)	criteria provided, conflicting interpretations
Select item 20824458.	NP_000521.1(MPZ):p.Asn116Ser	MPZ		Charcot-Marie-Tooth disease type 1B	Pathogenic (Dec 18, 2014)	no assertion criteria provided
Select item 20814959.	NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) GRCh37: Chr1:161276204 GRCh38: Chr1:161306414	MPZ	G167R	Charcot-Marie-Tooth disease, type I	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 20814860.	NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) GRCh37: Chr1:161276216 GRCh38: Chr1:161306426	MPZ	G163R	Charcot-Marie-Tooth disease, type I	Pathogenic (Sep 29, 2021)	criteria provided, single submitter
Select item 20814761.	NM_000530.6(MPZ):c.[241C>T;337G>T] GRCh37: Chr1:161276705 Chr1:161276609 GRCh38: Chr1:161306915 Chr1:161306819	MPZ, MPZ	H81Y, V113F	Charcot-Marie-Tooth disease type 1B	Pathogenic (Mar 26, 2015)	no assertion criteria provided
Select item 20814662.	NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) GRCh37: Chr1:161277101 GRCh38: Chr1:161307311	MPZ	D61N	Charcot-Marie-Tooth disease, type I, not provided	Pathogenic (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13824263.	NM_000530.8(MPZ):c.600G>A (p.Gly200=) GRCh37: Chr1:161275943 GRCh38: Chr1:161306153	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 1B, not specified, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12961964.	NM_000530.8(MPZ):c.684C>T (p.Ser228=) GRCh37: Chr1:161275729 GRCh38: Chr1:161305939	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, not specified, not provided, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4102865.	NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) GRCh37: Chr1:161275764 GRCh38: Chr1:161305974	MPZ	P217S	Charcot-Marie-Tooth disease	Uncertain significance	no assertion criteria provided
Select item 4102766.	NM_000530.8(MPZ):c.645+1G>T GRCh37: Chr1:161275897 GRCh38: Chr1:161306107	MPZ		Charcot-Marie-Tooth disease	Uncertain significance	no assertion criteria provided
Select item 4102667.	NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) GRCh37: Chr1:161276599 GRCh38: Chr1:161306809	MPZ	N116S	Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, not provided, Charcot-Marie-Tooth disease type 2I	Uncertain significance (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4102568.	NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) GRCh37: Chr1:161277118 GRCh38: Chr1:161307328	MPZ	S55I	Charcot-Marie-Tooth disease	Uncertain significance	no assertion criteria provided
Select item 4102469.	NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) GRCh37: Chr1:161275743 GRCh38: Chr1:161305953	MPZ	D224Y	Inborn genetic diseases, Charcot-Marie-Tooth disease, type I	Pathogenic/Likely pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4102370.	NM_000530.8(MPZ):c.588dup (p.Met197fs) GRCh37: Chr1:161275954-161275955 GRCh38: Chr1:161306164-161306165	MPZ	M197fs	Charcot-Marie-Tooth disease type 1B	not provided	no assertion provided
Select item 4102271.	NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) GRCh37: Chr1:161276216 GRCh38: Chr1:161306426	MPZ	G163R	Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, not provided	Pathogenic/Likely pathogenic (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4102172.	NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) GRCh37: Chr1:161276557 GRCh38: Chr1:161306767	MPZ	K130R	Charcot-Marie-Tooth disease, type I, not provided, Charcot-Marie-Tooth disease type 1B	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 4102073.	NM_000530.8(MPZ):c.337G>T (p.Val113Phe) GRCh37: Chr1:161276609 GRCh38: Chr1:161306819	MPZ	V113F	Charcot-Marie-Tooth disease, type I, not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4101974.	NM_000530.8(MPZ):c.306del (p.Asp104fs) GRCh37: Chr1:161276640 GRCh38: Chr1:161306850	MPZ	D104fs	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease dominant intermediate D	Pathogenic/Likely pathogenic (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4101875.	NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) GRCh37: Chr1:161276680 GRCh38: Chr1:161306890	MPZ	I89T	Charcot-Marie-Tooth disease type 1B	not provided	no assertion provided
Select item 4101776.	NM_000530.8(MPZ):c.244T>C (p.Tyr82His) GRCh37: Chr1:161276702 GRCh38: Chr1:161306912	MPZ	Y82H	Charcot-Marie-Tooth disease, type I, not provided	Pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4101677.	NM_000530.8(MPZ):c.241C>T (p.His81Tyr) GRCh37: Chr1:161276705 GRCh38: Chr1:161306915	MPZ	H81Y	Charcot-Marie-Tooth disease	Uncertain significance (Aug 14, 2019)	no assertion criteria provided
Select item 4101578.	NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) GRCh37: Chr1:161277107 GRCh38: Chr1:161307317	MPZ	S59T	Charcot-Marie-Tooth disease type 1B	not provided	no assertion provided
Select item 4101479.	NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) GRCh37: Chr1:161277193 GRCh38: Chr1:161307403	MPZ	I30T	Charcot-Marie-Tooth disease, type I	Likely pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 1420080.	NM_000530.8(MPZ):c.276G>A (p.Val92=) GRCh37: Chr1:161276670 GRCh38: Chr1:161306880	MPZ		Charcot-Marie-Tooth disease, type I	Likely pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 1419881.	NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) GRCh37: Chr1:161276579 GRCh38: Chr1:161306789	MPZ	G123S	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B	Conflicting interpretations of pathogenicity (Jan 22, 2008)	no assertion criteria provided
Select item 1419382.	NM_000530.8(MPZ):c.178G>C (p.Asp60His) GRCh37: Chr1:161277104 GRCh38: Chr1:161307314	MPZ	D60H	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B	Conflicting interpretations of pathogenicity (Aug 4, 2022)	criteria provided, conflicting interpretations
Select item 1419183.	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) GRCh37: Chr1:161276512 GRCh38: Chr1:161306722	MPZ	Y145S	Charcot-Marie-Tooth disease dominant intermediate D, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, type I, not provided	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1418884.	NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) GRCh37: Chr1:161277049 GRCh38: Chr1:161307259	MPZ	S78L	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 1B	Pathogenic (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1418785.	NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) GRCh37: Chr1:161276638 GRCh38: Chr1:161306848	MPZ	G103E	Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 1418686.	NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) GRCh37: Chr1:161276553 GRCh38: Chr1:161306763	MPZ	N131K	not provided, Charcot-Marie-Tooth disease, type I	Pathogenic (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1418587.	NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) GRCh37: Chr1:161277151 GRCh38: Chr1:161307361	MPZ	S44F	not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I	Pathogenic (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1418488.	NM_000530.8(MPZ):c.224A>T (p.Asp75Val) GRCh37: Chr1:161277058 GRCh38: Chr1:161307268	MPZ	D75V	Charcot-Marie-Tooth disease, type I	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 1418189.	NM_000530.8(MPZ):c.371C>T (p.Thr124Met) GRCh37: Chr1:161276575 GRCh38: Chr1:161306785	MPZ	T124M	not provided, Charcot-Marie-Tooth disease dominant intermediate D, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 4E, Dejerine-Sottas disease, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, type I ...see more	Pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1417990.	NM_000530.8(MPZ):c.242A>G (p.His81Arg) GRCh37: Chr1:161276704 GRCh38: Chr1:161306914	MPZ	H81R	Charcot-Marie-Tooth disease, type I, not provided	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1417791.	NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) GRCh37: Chr1:161277094 GRCh38: Chr1:161307304	MPZ	S63F	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1417692.	NM_000530.8(MPZ):c.293G>A (p.Arg98His) GRCh37: Chr1:161276653 GRCh38: Chr1:161306863	MPZ	R98H	Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 1B, Pes cavus, Distal muscle weakness, Decreased nerve conduction velocity, Sensory neuropathy, Distal lower limb amyotrophy	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1417593.	NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) GRCh37: Chr1:161276654 GRCh38: Chr1:161306864	MPZ	R98C	not provided, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I	Pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1417494.	NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) GRCh37: Chr1:161276653 GRCh38: Chr1:161306863	MPZ	R98P	Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease, type I	Pathogenic/Likely pathogenic (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1417395.	NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) GRCh37: Chr1:161276537 GRCh38: Chr1:161306747	MPZ	G137S	Charcot-Marie-Tooth disease, type I, not provided	Likely pathogenic (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1417296.	NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) GRCh37: Chr1:161276542 GRCh38: Chr1:161306752	MPZ	I135T	not provided, Dejerine-Sottas disease	Pathogenic/Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1417197.	NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG GRCh37: Chr1:161275766-161275774 GRCh38: Chr1:161305976-161305984	MPZ		Charcot-Marie-Tooth disease type 1B	Pathogenic (Nov 15, 1993)	no assertion criteria provided
Select item 1417098.	NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) GRCh37: Chr1:161276204 GRCh38: Chr1:161306414	MPZ	G167R	Charcot-Marie-Tooth disease dominant intermediate D, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, type I	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1416799.	NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) GRCh37: Chr1:161276676 GRCh38: Chr1:161306886	MPZ	D90E	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B	Pathogenic (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14166100.	NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) GRCh37: Chr1:161276660 GRCh38: Chr1:161306870	MPZ	K96E	Charcot-Marie-Tooth disease, type I	Pathogenic (Aug 24, 2021)	criteria provided, single submitter

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