ClinVar for MedGen (Select 854756) - ClinVar

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Items: 20

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26274791.	NM_000530.8(MPZ):c.597G>C (p.Lys199Asn) GRCh37: Chr1:161275946 GRCh38: Chr1:161306156	MPZ	K199N	Charcot-Marie-Tooth disease type 2I	Uncertain significance	criteria provided, single submitter
Select item 25055302.	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 12117343.	NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) GRCh37: Chr1:161276634 GRCh38: Chr1:161306844	MPZ	D104E	Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease type 2I	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6373224.	NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) GRCh37: Chr1:161279637 GRCh38: Chr1:161309847	MPZ, SDHC	S20F	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease dominant intermediate D	Uncertain significance (Nov 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4627995.	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 4627976.	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 4627907.	NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) GRCh37: Chr1:161277179 GRCh38: Chr1:161307389	MPZ	D35N	not provided, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2I	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4477348.	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 2465249.	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 21696310.	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 13824211.	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 4102612.	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 4101713.	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, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease dominant intermediate D	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1419414.	NM_000530.8(MPZ):c.186C>G (p.Ile62Met) GRCh37: Chr1:161277096 GRCh38: Chr1:161307306	MPZ	I62M	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2I, Roussy-Lévy syndrome	Conflicting interpretations of pathogenicity (Mar 14, 2022)	criteria provided, conflicting interpretations
Select item 1419315.	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 1419116.	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) GRCh37: Chr1:161276512 GRCh38: Chr1:161306722	MPZ	Y145S	MPZ-related condition, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 2I, Dejerine-Sottas disease, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease, type I, not provided	Pathogenic (Mar 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1418517.	NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) GRCh37: Chr1:161277151 GRCh38: Chr1:161307361	MPZ	S44F	Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, not provided	Pathogenic (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1418218.	NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G] GRCh37: Chr1:161276672 Chr1:161276217 Chr1:161276680 GRCh38: Chr1:161306882 Chr1:161306427 Chr1:161306890	MPZ, MPZ, MPZ	V92M, I162M, I89N	Charcot-Marie-Tooth disease type 2I	Pathogenic (Feb 1, 2002)	no assertion criteria provided
Select item 1418119.	NM_000530.8(MPZ):c.371C>T (p.Thr124Met) GRCh37: Chr1:161276575 GRCh38: Chr1:161306785	MPZ	T124M	Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 4E, Dejerine-Sottas disease, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 2J, not provided, Charcot-Marie-Tooth disease dominant intermediate D ...see more	Pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1417020.	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

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Items: 20