Total 13 pathogenic variants reported for Hereditary liability to pressure palsies

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	SNV Germline	Chr17:15231047	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease, type 1a, autosomal recessive Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type IA not specified Charcot-Marie-Tooth disease, type I Condition: not provided Charcot-Marie-Tooth disease Tip-toe gait	Criteria Provided Conflicting Classifications	CA119616	rs_104894619	21 SubmittersRCV000008945 RCV000008946 RCV000032119 RCV000194789 RCV000197572 RCV000224441 RCV001027473 RCV001507314
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)	SNV Germline	Chr17:15239591	Conflicting classifications of pathogenicity	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type IA Charcot-Marie-Tooth disease, type I	Criteria Provided Conflicting Classifications	CA254388	rs_104894623	4 SubmittersRCV000008956 RCV001173915 RCV002288476 RCV003581556
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)	SNV Germline	Chr17:15230931	Pathogenic/Likely pathogenic	Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease type 1E PMP22-related disorder Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I Hereditary liability to pressure palsies	Criteria Provided Multiple Submitters No Conflicts	CA119628	rs_28936682	6 SubmittersRCV000008957 RCV000193053 RCV000778488 RCV001173916 RCV001229968 RCV001332355
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	SNV Germline	Chr17:15260663	Pathogenic	Charcot-Marie-Tooth disease, type IA Hereditary liability to pressure palsies	No Assertion Criteria Provided	CA254390	rs_104894625	2 SubmittersRCV000008959 RCV000008958
NM_000304.4(PMP22):c.-34-5C>T	SNV Germline	Chr17:15260766	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease, type I Hereditary liability to pressure palsies Condition: not provided	Criteria Provided Conflicting Classifications	CA8403462	rs_375105159	2 SubmittersRCV000289055 RCV000394960 RCV001705481
NM_000304.4(PMP22):c.*205C>A	SNV Germline	Chr17:15230712	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease, type I Hereditary liability to pressure palsies Condition: not provided	Criteria Provided Conflicting Classifications	CA8403257	rs_189734097	2 SubmittersRCV000309922 RCV000362331 RCV001597089
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)	SNV Germline	Chr17:15230982	Likely pathogenic	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I Condition: not provided Hereditary liability to pressure palsies Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease, type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1555564040	4 SubmittersRCV000790173 RCV001064771 RCV002269313 RCV003483723
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)	SNV Germline	Chr17:15231028	Pathogenic	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type I	Criteria Provided Single Submitter		rs_1597597678	2 SubmittersRCV000790004 RCV002535811
NM_000304.4(PMP22):c.78+3G>T	SNV Unknown	Chr17:15260647	Likely pathogenic	Hereditary liability to pressure palsies	Criteria Provided Single Submitter		rs_1597635528	1 SubmittersRCV000989757