ClinVar for MedGen (Select 501212) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6374221.	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 5863452.	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 5316923.	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 4627814.	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 4331985.	NM_000304.4(PMP22):c.449G>T (p.Gly150Val) GRCh37: Chr17:15134268 GRCh38: Chr17:15230951	PMP22	G150V	Charcot-Marie-Tooth disease, type I	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 3783796.	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 3218627.	NM_000304.4(PMP22):c.79-6C>T GRCh37: Chr17:15162516 GRCh38: Chr17:15259199	PMP22		Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, Guillain-Barre syndrome, familial, Charcot-Marie-Tooth disease type 1E, Hereditary liability to pressure palsies, Roussy-Lévy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type IA, Charcot-Marie-Tooth disease, not provided, Hereditary liability to pressure palsies ...see more	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2082438.	NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) GRCh37: Chr17:15162472 GRCh38: Chr17:15259155	PMP22	W39C	Charcot-Marie-Tooth disease	Uncertain significance	no assertion criteria provided
Select item 1881959.	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 3015810.	NM_000304.4(PMP22):c.281del (p.Gly94fs) GRCh37: Chr17:15142826 GRCh38: Chr17:15239509	PMP22	G94fs	Charcot-Marie-Tooth disease, type I, not provided	Pathogenic (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 844411.	NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) GRCh37: Chr17:15134248 GRCh38: Chr17:15230931	PMP22	R157W	PMP22-Related Disorders, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I	Conflicting interpretations of pathogenicity (May 27, 2022)	criteria provided, conflicting interpretations
Select item 844112.	NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) GRCh37: Chr17:15134362-15134373 GRCh38: Chr17:15231045-15231056	PMP22		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1E	Conflicting interpretations of pathogenicity (Feb 11, 2003)	no assertion criteria provided
Select item 844013.	NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) GRCh37: Chr17:15162507 GRCh38: Chr17:15259190	PMP22	W28R	Charcot-Marie-Tooth disease, type I	Likely pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 843614.	NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) GRCh37: Chr17:15142908 GRCh38: Chr17:15239591	PMP22	A67P	Charcot-Marie-Tooth disease, type I, not provided	Pathogenic/Likely pathogenic (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts