ClinVar for MedGen (Select 854756) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

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	not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease, type I	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	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, Inborn genetic diseases, 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	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2I, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Inborn genetic diseases, 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

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 20