ClinVar for MedGen (Select 375107) - ClinVar - NCBI

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Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25791411.	NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer) GRCh37: Chr1:161276642 GRCh38: Chr1:161306852	MPZ		Charcot-Marie-Tooth disease type 2J	Pathogenic (Aug 10, 2023)	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 5720343.	NM_000530.8(MPZ):c.398C>G (p.Pro133Arg) GRCh37: Chr1:161276548 GRCh38: Chr1:161306758	MPZ	P133R	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2J	Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4627994.	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 4627975.	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 4477346.	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 2465247.	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 2169638.	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 1382429.	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 1419910.	NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) GRCh37: Chr1:161276633 GRCh38: Chr1:161306843	MPZ	P105T	Charcot-Marie-Tooth disease, type I, not provided	Conflicting interpretations of pathogenicity (Jun 20, 2022)	criteria provided, conflicting interpretations
Select item 1419511.	NM_000530.8(MPZ):c.290A>T (p.Glu97Val) GRCh37: Chr1:161276656 GRCh38: Chr1:161306866	MPZ	E97V	Charcot-Marie-Tooth disease, type I	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 1419112.	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 1418413.	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 1418114.	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 1417015.	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