ClinVar for MedGen (Select 64430) - ClinVar

Links from MedGen

Items: 58

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9315611.	NM_000530.8(MPZ):c.603dup (p.Leu202fs) GRCh37: Chr1:161275939-161275940 GRCh38: Chr1:161306149-161306150	MPZ	L202fs	Roussy-Lévy syndrome	Uncertain significance (Jul 2, 2019)	criteria provided, single submitter
Select item 9309622.	NM_000530.8(MPZ):c.392dup (p.Asn131fs) GRCh37: Chr1:161276553-161276554 GRCh38: Chr1:161306763-161306764	MPZ	N131fs	Roussy-Lévy syndrome	Likely pathogenic (Mar 26, 2020)	criteria provided, single submitter
Select item 8764163.	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 8764154.	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 8763735.	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 8762546.	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 8754957.	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 8753848.	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 8753839.	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 87451610.	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 87446611.	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 87357412.	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 63777713.	NM_000530.8(MPZ):c.173T>A (p.Val58Asp) GRCh37: Chr1:161277109 GRCh38: Chr1:161307319	MPZ	V58D	Charcot-Marie-Tooth disease, type I, Roussy-Lévy syndrome	Conflicting interpretations of pathogenicity (Mar 5, 2022)	criteria provided, conflicting interpretations
Select item 63742214.	NM_000304.4(PMP22):c.-134G>A GRCh37: Chr17:15168570 GRCh38: Chr17:15265253	PMP22		Guillain-Barre syndrome, familial, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IA, Roussy-Lévy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 1E	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 58634515.	NM_000304.4(PMP22):c.362A>G (p.His121Arg) GRCh37: Chr17:15134355 GRCh38: Chr17:15231038	PMP22	H121R	not provided	Uncertain significance (Feb 16, 2018)	criteria provided, single submitter
Select item 53169216.	NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) GRCh37: Chr17:15142852 GRCh38: Chr17:15239535	PMP22	C85W	Guillain-Barre syndrome, familial, Roussy-Lévy syndrome, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type IA, Dejerine-Sottas disease, not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease, type I	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53168417.	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 46279718.	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 46278119.	NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) GRCh37: Chr17:15134239 GRCh38: Chr17:15230922	PMP22	E160K	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1E, Guillain-Barre syndrome, familial, Roussy-Lévy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type IA, Hereditary liability to pressure palsies	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37837920.	NM_000304.4(PMP22):c.396C>T (p.Tyr132=) GRCh37: Chr17:15134321 GRCh38: Chr17:15231004	PMP22		Guillain-Barre syndrome, familial, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type IA, Hereditary liability to pressure palsies, Roussy-Lévy syndrome, Dejerine-Sottas disease, not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, not specified	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37401721.	NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) GRCh37: Chr1:161275714 GRCh38: Chr1:161305924	MPZ	S233R	Roussy-Lévy syndrome, Sensorimotor neuropathy, EMG: neuropathic changes, Limb muscle weakness, Tremor	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 37396522.	NM_000304.4(PMP22):c.422T>G (p.Val141Gly) GRCh37: Chr17:15134295 GRCh38: Chr17:15230978	PMP22	V141G	Roussy-Lévy syndrome, Spasticity, Respiratory distress, Tongue fasciculations	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 36883723.	NM_003001.5(SDHC):c.-38G>A GRCh37: Chr1:161284158 GRCh38: Chr1:161314368	MPZ, SDHC		Paragangliomas 3, Gastrointestinal stroma tumor, not provided, Hereditary cancer-predisposing syndrome, not specified, Charcot-Marie-Tooth disease type 4E, Hereditary pheochromocytoma-paraganglioma, Roussy-Lévy syndrome, Pheochromocytoma, Paragangliomas 3, Charcot-Marie-Tooth, IntermediateCharcot-Marie-Tooth disease, type I, Paragangliomas 3, Gastrointestinal stroma tumor, Carney-Stratakis syndrome, ...see more	Benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32186224.	NM_000304.4(PMP22):c.79-6C>T GRCh37: Chr17:15162516 GRCh38: Chr17:15259199	PMP22		Guillain-Barre syndrome, familial, Roussy-Lévy syndrome, Dejerine-Sottas disease, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type IA, not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type I ...see more	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29331525.	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 29331426.	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 29331327.	NM_000530.8(MPZ):c.504G>A (p.Val168=) GRCh37: Chr1:161276199 GRCh38: Chr1:161306409	MPZ		Charcot-Marie-Tooth disease, type I, not specified, Neuropathy, congenital hypomyelinating, 2, not provided, Charcot-Marie-Tooth disease, 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 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29331228.	NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) GRCh37: Chr1:161276188 GRCh38: Chr1:161306398	MPZ	L172P	Charcot-Marie-Tooth, Intermediate, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease, type I, Roussy-Lévy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29331129.	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 29331030.	NM_000530.8(MPZ):c.*195G>T GRCh37: Chr1:161275471 GRCh38: Chr1:161305681	MPZ		Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Neuropathy, congenital hypomyelinating, 2, not provided	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 29330931.	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 29330832.	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 29330733.	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 29330634.	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 29330535.	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 29330436.	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 29330337.	NM_000530.8(MPZ):c.*858T>C GRCh37: Chr1:161274808 GRCh38: Chr1:161305018	MPZ		Charcot-Marie-Tooth, Intermediate, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, type I	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29330238.	NM_000530.8(MPZ):c.*901GA[7] GRCh37: Chr1:161274755-161274756 GRCh38: Chr1:161304965-161304966	MPZ		Charcot-Marie-Tooth, Intermediate, not provided, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease, type I, Roussy-Lévy syndrome	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29330139.	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 29330040.	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 29329941.	NM_000530.8(MPZ):c.*1048A>T GRCh37: Chr1:161274618 GRCh38: Chr1:161304828	MPZ		not provided, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome, Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 29329842.	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 24657243.	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 24652444.	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 23787545.	NM_000530.8(MPZ):c.200G>A (p.Arg67His) GRCh37: Chr1:161277082 GRCh38: Chr1:161307292	MPZ	R67H	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, not specified, Neuropathy, congenital hypomyelinating, 2, Inborn genetic diseases, Roussy-Lévy syndrome, not provided, 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 21723846.	NM_000304.4(PMP22):c.434del (p.Leu145fs) GRCh37: Chr17:15134283 GRCh38: Chr17:15230966	PMP22	L145fs	Charcot-Marie-Tooth disease, type I, Inborn genetic diseases, not provided, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, type IA	Pathogenic/Likely pathogenic (Sep 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21696347.	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 18819548.	NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) GRCh37: Chr17:15142922 GRCh38: Chr17:15239605	PMP22	L62R	Guillain-Barre syndrome, familial, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type IA, Roussy-Lévy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type I, not specified, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13824249.	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 12961950.	NM_000530.8(MPZ):c.684C>T (p.Ser228=) GRCh37: Chr1:161275729 GRCh38: Chr1:161305939	MPZ		Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease, type I, Roussy-Lévy syndrome, not provided, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease, not specified	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4464751.	NM_003001.3(SDHC):c.20+11_20+12dup GRCh37: Chr1:161284226-161284227 GRCh38: Chr1:161314434-161314435	MPZ, SDHC		Charcot-Marie-Tooth, Intermediate, Gastrointestinal stroma tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome, Charcot-Marie-Tooth disease, type I, not specified, not provided, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome, Pheochromocytoma	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1419452.	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 1419153.	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 1418654.	NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) GRCh37: Chr1:161276553 GRCh38: Chr1:161306763	MPZ	N131K	Charcot-Marie-Tooth disease, type I, not provided	Pathogenic (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1418155.	NM_000530.8(MPZ):c.371C>T (p.Thr124Met) GRCh37: Chr1:161276575 GRCh38: Chr1:161306785	MPZ	T124M	Inborn genetic diseases, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 2I, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease, type I, not provided, Charcot-Marie-Tooth disease dominant intermediate D ...see more	Pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1417056.	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 843457.	NM_000304.4(PMP22):c.36C>A (p.His12Gln) GRCh37: Chr17:15164009 GRCh38: Chr17:15260692	PMP22	H12Q	Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, Roussy-Lévy syndrome	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 842758.	NC_000017.11:g.(?_14440201)_(15475424_?)dup	PMP22		Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, type IA	Pathogenic (Oct 18, 2012)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 58