Total 16 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	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type 1a, autosomal recessive Charcot-Marie-Tooth disease, type IA not specified Charcot-Marie-Tooth disease, type I Condition: not provided Charcot-Marie-Tooth disease Tip-toe gait Charcot-Marie-Tooth disease type 1E 6 conditions	Criteria Provided Conflicting Classifications	CA119616	rs_104894619	22 SubmittersRCV000008946 RCV000008945 RCV000032119 RCV000194789 RCV000197572 RCV000224441 RCV001027473 RCV001507314 RCV005862500 RCV005394144
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA254388	rs_104894623	5 SubmittersRCV000008956 RCV001173915 RCV002288476 RCV003581556 RCV005641492
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 Charcot-Marie-Tooth disease, type I Hereditary liability to pressure palsies Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA119628	rs_28936682	6 SubmittersRCV000008957 RCV000193053 RCV001229968 RCV001332355 RCV001173916
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	SNV Germline	Chr17:15260663	Pathogenic	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type IA	No Assertion Criteria Provided	CA254390	rs_104894625	2 SubmittersRCV000008958 RCV000008959
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.*3C>T	SNV Germline	Chr17:15230914	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease, type I Hereditary liability to pressure palsies Tip-toe gait	Criteria Provided Conflicting Classifications	CA8403290	rs_373690370	2 SubmittersRCV000285547 RCV000372929 RCV005638108
NM_000304.4(PMP22):c.178+7C>A	SNV Germline	Chr17:15259087	Conflicting classifications of pathogenicity	Condition: not provided not specified Charcot-Marie-Tooth disease, type I Charcot-Marie-Tooth disease Hereditary liability to pressure palsies Tip-toe gait PMP22-related disorder	Criteria Provided Conflicting Classifications	CA8403414	rs_147885521	11 SubmittersRCV000456190 RCV000614118 RCV001081441 RCV001173928 RCV001122570 RCV001543104 RCV004535491
NM_000304.4(PMP22):c.83G>A (p.Trp28Ter)	SNV Germline	Chr17:15259189	Pathogenic	Charcot-Marie-Tooth disease, type I Hereditary liability to pressure palsies	Criteria Provided Multiple Submitters No Conflicts	CA398271192	rs_1555568475	2 SubmittersRCV000638157 RCV005870719
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	CA398739583	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	CA398739707	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	CA915949588	rs_1597635528	1 SubmittersRCV000989757