Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)	SNV Germline	Chr19:40395495	Pathogenic	Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease type 4F Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease PRX-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117076	rs_104894714	8 SubmittersRCV000005053 RCV000201141 RCV000236836 RCV000458979 RCV001172752 RCV004751202
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)	SNV Germline	Chr19:40397250	Pathogenic/Likely pathogenic	Autosomal recessive Dejerine-Sottas syndrome Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Peripheral neuropathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA117079	rs_104894715	8 SubmittersRCV000005055 RCV000760443 RCV000688310 RCV001353155 RCV001813951 RCV002453248
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)	SNV Germline	Chr19:40397766	Pathogenic	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117082	rs_104894706	4 SubmittersRCV000005057 RCV000789537 RCV001222897 RCV001781189
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)	SNV Germline	Chr19:40396207	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA343107	rs_104894707	11 SubmittersRCV000032004 RCV000474032 RCV000760319 RCV001172756 RCV002426489
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	SNV Germline	Chr19:40395144	Pathogenic/Likely pathogenic	Dejerine-Sottas disease Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4	Criteria Provided Multiple Submitters No Conflicts	CA117085	rs_104894708	7 SubmittersRCV000005061 RCV000032006 RCV000701391
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)	SNV Germline	Chr19:40394856	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 4F Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248994	rs_147826200	9 SubmittersRCV000202796 RCV001086843 RCV001172771 RCV001509034 RCV001135981 RCV002453729
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)	SNV Germline	Chr19:40396098	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4F Inborn genetic diseases PRX-related disorder	Criteria Provided Conflicting Classifications	CA337174	rs_147587689	11 SubmittersRCV000236667 RCV000416164 RCV001080434 RCV001172781 RCV001129129 RCV002444813 RCV003947662
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)	SNV Germline	Chr19:40397529	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Condition: not provided not specified Charcot-Marie-Tooth disease type 4F Tip-toe gait Charcot-Marie-Tooth disease Inborn genetic diseases PRX-related disorder	Criteria Provided Conflicting Classifications	CA335872	rs_200033507	16 SubmittersRCV000195707 RCV000415792 RCV000493878 RCV001094576 RCV001449601 RCV001173081 RCV002426952 RCV003917822
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)	SNV Germline	Chr19:40397136	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease not specified	Criteria Provided Conflicting Classifications	CA349607	rs_117336941	10 SubmittersRCV000576841 RCV000762017 RCV001084142 RCV001173957 RCV001795335
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)	SNV Germline	Chr19:40396778	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 not specified Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4F Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444239	rs_149715830	15 SubmittersRCV000228501 RCV000431721 RCV000658836 RCV000789549 RCV001094584 RCV002401915
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)	SNV Germline	Chr19:40394405	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA9443732	rs_142762689	9 SubmittersRCV000236760 RCV000559953 RCV000767048 RCV001094578 RCV001173096
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)	SNV Germline	Chr19:40394979	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4F Tip-toe gait Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9443872	rs_148939995	12 SubmittersRCV000235608 RCV000658835 RCV001085498 RCV001172782 RCV001128999 RCV001358805 RCV002450720
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)	SNV Germline	Chr19:40395166	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease type 4F not specified Charcot-Marie-Tooth disease Tip-toe gait Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9443909	rs_139188673	11 SubmittersRCV000474498 RCV000766571 RCV001131681 RCV001283504 RCV001172762 RCV001814975 RCV002321902
NM_181882.3(PRX):c.1651G>A (p.Val551Met)	SNV Germline	Chr19:40396701	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases PRX-related disorder not specified	Criteria Provided Conflicting Classifications	CA9444221	rs_61733448	9 SubmittersRCV000545891 RCV001094582 RCV001172787 RCV001705304 RCV002401919 RCV003947804 RCV004999164
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)	SNV Germline	Chr19:40396806	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 4F Dejerine-Sottas disease Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Inborn genetic diseases Dejerine-Sottas disease	Criteria Provided Conflicting Classifications	CA9444242	rs_144305922	7 SubmittersRCV000236385 RCV000764202 RCV000802296 RCV001136189 RCV002401925 RCV003333056
NM_181882.3(PRX):c.727G>A (p.Gly243Arg)	SNV Germline	Chr19:40397625	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Charcot-Marie-Tooth disease type 4F Dejerine-Sottas disease	Criteria Provided Conflicting Classifications	CA9444389	rs_774726424	6 SubmittersRCV000235532 RCV001241256 RCV002379040 RCV005396828
NM_181882.3(PRX):c.3849A>G (p.Pro1283=)	SNV Germline	Chr19:40394503	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9443766	rs_757247849	3 SubmittersRCV000325086 RCV001433368 RCV002356446
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)	SNV Germline	Chr19:40394803	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 not specified Charcot-Marie-Tooth disease type 4F Condition: not provided Inborn genetic diseases PRX-related disorder	Criteria Provided Conflicting Classifications	CA9443834	rs_367876251	6 SubmittersRCV000543504 RCV001002435 RCV001094599 RCV001815312 RCV002450890 RCV003969940
NM_181882.3(PRX):c.237C>T (p.Asp79=)	SNV Germline	Chr19:40398764	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9444527	rs_376174896	5 SubmittersRCV000426746 RCV000654199 RCV001859947 RCV002450892 RCV006263877
NM_181882.3(PRX):c.966G>T (p.Val322=)	SNV Germline	Chr19:40397386	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9444347	rs_139544245	4 SubmittersRCV000372000 RCV001445203 RCV002379212 RCV003418038
NM_181882.3(PRX):c.960G>A (p.Ser320=)	SNV Germline	Chr19:40397392	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F not specified Charcot-Marie-Tooth disease type 4 Inborn genetic diseases PRX-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA9444348	rs_775367319	6 SubmittersRCV000263431 RCV000601170 RCV002057513 RCV002374560 RCV003897754 RCV005641595
NM_181882.3(PRX):c.-114T>G	SNV Germline	Chr19:40408172	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Condition: not provided	Criteria Provided Conflicting Classifications	CA10648730	rs_367716653	3 SubmittersRCV000261903 RCV001613063
NM_181882.3(PRX):c.2292C>G (p.Pro764=)	SNV Germline	Chr19:40396060	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444083	rs_142637195	3 SubmittersRCV000279489 RCV002057512 RCV002450891
NM_181882.3(PRX):c.683G>A (p.Arg228His)	SNV Germline	Chr19:40397669	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Dejerine-Sottas disease Charcot-Marie-Tooth disease type 4F	Criteria Provided Conflicting Classifications	CA9444397	rs_562108874	4 SubmittersRCV000379210 RCV001498314 RCV002365391 RCV005398448
NM_181882.3(PRX):c.597C>T (p.Ala199=)	SNV Germline	Chr19:40397755	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444420	rs_144157275	4 SubmittersRCV000288813 RCV001173089 RCV001426880 RCV002356448
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)	SNV Germline	Chr19:40396784	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Inborn genetic diseases Charcot-Marie-Tooth disease type 4 not specified	Criteria Provided Conflicting Classifications	CA9444240	rs_550446238	4 SubmittersRCV000275615 RCV002521231 RCV002523067 RCV005434835
NM_181882.3(PRX):c.1500A>G (p.Ser500=)	SNV Germline	Chr19:40396852	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 not specified Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9444249	rs_777104457	7 SubmittersRCV000532474 RCV000442783 RCV001094603 RCV001172776 RCV002392883 RCV006263876
NM_181882.3(PRX):c.379C>T (p.Leu127=)	SNV Germline	Chr19:40398622	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA10652470	rs_886054441	3 SubmittersRCV000314519 RCV000857067 RCV001361032
NM_181882.3(PRX):c.2832T>C (p.Ala944=)	SNV Germline	Chr19:40395520	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Inborn genetic diseases PRX-related disorder	Criteria Provided Conflicting Classifications	CA9443971	rs_145226687	5 SubmittersRCV000425577 RCV000862651 RCV001131684 RCV002436311 RCV003902579
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro)	SNV Germline	Chr19:40394550	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA9443783	rs_146061247	5 SubmittersRCV000460920 RCV001132595 RCV001173097 RCV001703726
NM_181882.3(PRX):c.4317C>T (p.Ser1439=)	SNV Germline	Chr19:40394035	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA9443640	rs_372280596	4 SubmittersRCV000464273 RCV001337127 RCV002329132 RCV004999511
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)	SNV Germline	Chr19:40395624	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9443992	rs_145203783	4 SubmittersRCV000476039 RCV001132700 RCV002429526 RCV004696236
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)	SNV Germline	Chr19:40395804	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444034	rs_141686828	10 SubmittersRCV000461499 RCV000712866 RCV001136100 RCV001173750 RCV001643174 RCV002436448
NM_181882.3(PRX):c.3708G>A (p.Ala1236=)	SNV Germline	Chr19:40394644	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 not specified Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9443803	rs_202119177	6 SubmittersRCV000531906 RCV000615828 RCV001135978 RCV001173093 RCV001811071 RCV002358617
NM_181882.3(PRX):c.1026A>C (p.Ala342=)	SNV Germline	Chr19:40397326	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444337	rs_150772010	3 SubmittersRCV000538244 RCV001129237 RCV002384260
NM_181882.3(PRX):c.719G>A (p.Arg240Gln)	SNV Germline	Chr19:40397633	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA9444391	rs_77917609	5 SubmittersRCV000554182 RCV001131934 RCV001546675 RCV002377182 RCV005000218
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)	SNV Germline	Chr19:40396983	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Condition: not provided Inborn genetic diseases PRX-related disorder	Criteria Provided Conflicting Classifications	CA9444276	rs_142064826	5 SubmittersRCV000539162 RCV001136190 RCV001565702 RCV002384261 RCV003915651
NM_181882.3(PRX):c.2229C>T (p.Pro743=)	SNV Germline	Chr19:40396123	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444107	rs_144975214	3 SubmittersRCV000547395 RCV001129130 RCV002431716
NM_181882.3(PRX):c.993G>A (p.Pro331=)	SNV Germline	Chr19:40397359	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444344	rs_146323928	8 SubmittersRCV000558551 RCV001129238 RCV001173788 RCV001662607 RCV001584361 RCV002384262
NM_181882.3(PRX):c.1215C>T (p.Pro405=)	SNV Germline	Chr19:40397137	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444301	rs_377184301	3 SubmittersRCV000654224 RCV001136191 RCV002358893
NM_181882.3(PRX):c.3703G>T (p.Glu1235Ter)	SNV Germline	Chr19:40394649	Pathogenic	Charcot-Marie-Tooth disease type 4F	No Assertion Criteria Provided	CA405892600	rs_1385904344	1 SubmittersRCV000664232
NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)	SNV Germline	Chr19:40396962	Pathogenic	Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease type 4F	Criteria Provided Multiple Submitters No Conflicts	CA9444273	rs_574861276	3 SubmittersRCV000703893 RCV001811452 RCV006440033
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter)	SNV Germline	Chr19:40397262	Pathogenic	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Condition: not provided Dejerine-Sottas disease Charcot-Marie-Tooth disease type 4F	Criteria Provided Multiple Submitters No Conflicts	CA9444329	rs_144183238	5 SubmittersRCV000789544 RCV001869224 RCV004696990 RCV005409738
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)	SNV Germline	Chr19:40395663	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease, type I Dejerine-Sottas disease Charcot-Marie-Tooth disease type 4F	Criteria Provided Multiple Submitters No Conflicts	CA9444001	rs_756689732	3 SubmittersRCV000800697 RCV000857052 RCV005392408
NM_181882.3(PRX):c.2715C>A (p.Thr905=)	SNV Germline	Chr19:40395637	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA9443997	rs_188765166	4 SubmittersRCV000863888 RCV001132701 RCV001172784 RCV003411841
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)	SNV Germline	Chr19:40396308	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Charcot-Marie-Tooth disease type 4F Dejerine-Sottas disease	Criteria Provided Conflicting Classifications	CA9444131	rs_761277865	3 SubmittersRCV000865791 RCV002416010 RCV005392476
NM_181882.3(PRX):c.944G>A (p.Arg315Gln)	SNV Germline	Chr19:40397408	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444354	rs_577197549	4 SubmittersRCV000868289 RCV001129240 RCV001173080 RCV004027719
NM_181882.3(PRX):c.732G>A (p.Ala244=)	SNV Germline	Chr19:40397620	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA9444386	rs_769735682	2 SubmittersRCV001131933 RCV001398306
NM_181882.3(PRX):c.3963G>A (p.Glu1321=)	SNV Germline	Chr19:40394389	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA9443727	rs_781159482	2 SubmittersRCV001132593 RCV002539220
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)	SNV Germline	Chr19:40395267	Likely pathogenic	Charcot-Marie-Tooth disease type 4F	No Assertion Criteria Provided	CA405894987	rs_1599651726	1 SubmittersRCV000985146
NM_181882.3(PRX):c.27+1G>T	SNV Germline	Chr19:40407905	Pathogenic	Charcot-Marie-Tooth disease type 4F PRX-related disorder	Criteria Provided Single Submitter	CA405902026	rs_146342432	2 SubmittersRCV001030788 RCV004702566
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)	SNV Germline	Chr19:40394679	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Condition: not provided	Criteria Provided Conflicting Classifications	CA9443813	rs_140880177	3 SubmittersRCV001039383 RCV001135980 RCV005255641
NM_181882.3(PRX):c.2850G>C (p.Gly950=)	SNV Germline	Chr19:40395502	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA9443966	rs_770520776	2 SubmittersRCV001131683 RCV003769249
NM_181882.3(PRX):c.2509C>T (p.Leu837=)	SNV Germline	Chr19:40395843	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA507679065	rs_1177784082	2 SubmittersRCV001136101 RCV001437118
NM_181882.3(PRX):c.2283G>A (p.Pro761=)	SNV Germline	Chr19:40396069	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA507679504	rs_1340076007	2 SubmittersRCV001129126 RCV002070505
NM_181882.3(PRX):c.1818G>A (p.Pro606=)	SNV Germline	Chr19:40396534	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444189	rs_768022787	4 SubmittersRCV001132793 RCV001173780 RCV001391962 RCV004960484
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)	SNV Germline	Chr19:40397409	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9444355	rs_763185527	3 SubmittersRCV001129241 RCV001856685 RCV002375031
NM_181882.3(PRX):c.825C>T (p.Leu275=)	SNV Germline	Chr19:40397527	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA9444377	rs_753268672	3 SubmittersRCV001131932 RCV001417387 RCV003425944
NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)	SNV Unknown	Chr19:40396791	Likely pathogenic	Charcot-Marie-Tooth disease type 4F	Criteria Provided Single Submitter	CA405898142	rs_200483634	1 SubmittersRCV001196692
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)	SNV Germline	Chr19:40398770	Pathogenic	Charcot-Marie-Tooth disease type 4 Gaucher disease PRX-related disorder Charcot-Marie-Tooth disease type 4F	Criteria Provided Multiple Submitters No Conflicts	CA405901329	rs_752192677	3 SubmittersRCV001231331 RCV004526818 RCV004579570 RCV002305577
NM_181882.3(PRX):c.2719C>T (p.Gln907Ter)	SNV Unknown	Chr19:40395633	Likely pathogenic	Charcot-Marie-Tooth disease type 4F	Criteria Provided Single Submitter	CA405895721	rs_2079426412	1 SubmittersRCV001330567

NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)

SNV
Germline

Chr19:40395495

Pathogenic

Autosomal recessive Dejerine-Sottas syndrome
Charcot-Marie-Tooth disease type 4F
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
PRX-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117076

rs_104894714

8 SubmittersRCV000005053 RCV000201141 RCV000236836 RCV000458979 RCV001172752 RCV004751202

NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)

SNV
Germline

Chr19:40397250

Pathogenic/Likely pathogenic

Autosomal recessive Dejerine-Sottas syndrome
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Peripheral neuropathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA117079

rs_104894715

8 SubmittersRCV000005055 RCV000760443 RCV000688310 RCV001353155 RCV001813951 RCV002453248

NM_181882.3(PRX):c.586C>T (p.Arg196Ter)

SNV
Germline

Chr19:40397766

Pathogenic

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117082

rs_104894706

4 SubmittersRCV000005057 RCV000789537 RCV001222897 RCV001781189

NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)

SNV
Germline

Chr19:40396207

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA343107

rs_104894707

11 SubmittersRCV000032004 RCV000474032 RCV000760319 RCV001172756 RCV002426489

NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)

SNV
Germline

Chr19:40395144

Pathogenic/Likely pathogenic

Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA117085

rs_104894708

7 SubmittersRCV000005061 RCV000032006 RCV000701391

NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)

SNV
Germline

Chr19:40394856

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248994

rs_147826200

9 SubmittersRCV000202796 RCV001086843 RCV001172771 RCV001509034 RCV001135981 RCV002453729

NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)

SNV
Germline

Chr19:40396098

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA337174

rs_147587689

11 SubmittersRCV000236667 RCV000416164 RCV001080434 RCV001172781 RCV001129129 RCV002444813 RCV003947662

NM_181882.3(PRX):c.823C>A (p.Leu275Ile)

SNV
Germline

Chr19:40397529

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 4F
Tip-toe gait
Charcot-Marie-Tooth disease
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA335872

rs_200033507

16 SubmittersRCV000195707 RCV000415792 RCV000493878 RCV001094576 RCV001449601 RCV001173081 RCV002426952 RCV003917822

NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)

SNV
Germline

Chr19:40397136

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA349607

rs_117336941

10 SubmittersRCV000576841 RCV000762017 RCV001084142 RCV001173957 RCV001795335

NM_181882.3(PRX):c.1574T>C (p.Val525Ala)

SNV
Germline

Chr19:40396778

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444239

rs_149715830

15 SubmittersRCV000228501 RCV000431721 RCV000658836 RCV000789549 RCV001094584 RCV002401915

NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)

SNV
Germline

Chr19:40394405

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA9443732

rs_142762689

9 SubmittersRCV000236760 RCV000559953 RCV000767048 RCV001094578 RCV001173096

NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)

SNV
Germline

Chr19:40394979

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4F
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443872

rs_148939995

12 SubmittersRCV000235608 RCV000658835 RCV001085498 RCV001172782 RCV001128999 RCV001358805 RCV002450720

NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)

SNV
Germline

Chr19:40395166

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4F
not specified
Charcot-Marie-Tooth disease
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443909

rs_139188673

11 SubmittersRCV000474498 RCV000766571 RCV001131681 RCV001283504 RCV001172762 RCV001814975 RCV002321902

NM_181882.3(PRX):c.1651G>A (p.Val551Met)

SNV
Germline

Chr19:40396701

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
PRX-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9444221

rs_61733448

9 SubmittersRCV000545891 RCV001094582 RCV001172787 RCV001705304 RCV002401919 RCV003947804 RCV004999164

NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)

SNV
Germline

Chr19:40396806

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4F
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
Dejerine-Sottas disease

Criteria Provided
Conflicting Classifications

CA9444242

rs_144305922

7 SubmittersRCV000236385 RCV000764202 RCV000802296 RCV001136189 RCV002401925 RCV003333056

NM_181882.3(PRX):c.727G>A (p.Gly243Arg)

SNV
Germline

Chr19:40397625

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4F
Dejerine-Sottas disease

Criteria Provided
Conflicting Classifications

CA9444389

rs_774726424

6 SubmittersRCV000235532 RCV001241256 RCV002379040 RCV005396828

NM_181882.3(PRX):c.3849A>G (p.Pro1283=)

SNV
Germline

Chr19:40394503

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443766

rs_757247849

3 SubmittersRCV000325086 RCV001433368 RCV002356446

NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)

SNV
Germline

Chr19:40394803

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4F
Condition: not provided
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9443834

rs_367876251

6 SubmittersRCV000543504 RCV001002435 RCV001094599 RCV001815312 RCV002450890 RCV003969940

NM_181882.3(PRX):c.237C>T (p.Asp79=)

SNV
Germline

Chr19:40398764

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444527

rs_376174896

5 SubmittersRCV000426746 RCV000654199 RCV001859947 RCV002450892 RCV006263877

NM_181882.3(PRX):c.966G>T (p.Val322=)

SNV
Germline

Chr19:40397386

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444347

rs_139544245

4 SubmittersRCV000372000 RCV001445203 RCV002379212 RCV003418038

NM_181882.3(PRX):c.960G>A (p.Ser320=)

SNV
Germline

Chr19:40397392

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
not specified
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
PRX-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444348

rs_775367319

6 SubmittersRCV000263431 RCV000601170 RCV002057513 RCV002374560 RCV003897754 RCV005641595

NM_181882.3(PRX):c.-114T>G

SNV
Germline

Chr19:40408172

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10648730

rs_367716653

3 SubmittersRCV000261903 RCV001613063

NM_181882.3(PRX):c.2292C>G (p.Pro764=)

SNV
Germline

Chr19:40396060

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444083

rs_142637195

3 SubmittersRCV000279489 RCV002057512 RCV002450891

NM_181882.3(PRX):c.683G>A (p.Arg228His)

SNV
Germline

Chr19:40397669

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Conflicting Classifications

CA9444397

rs_562108874

4 SubmittersRCV000379210 RCV001498314 RCV002365391 RCV005398448

NM_181882.3(PRX):c.597C>T (p.Ala199=)

SNV
Germline

Chr19:40397755

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444420

rs_144157275

4 SubmittersRCV000288813 RCV001173089 RCV001426880 RCV002356448

NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)

SNV
Germline

Chr19:40396784

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
not specified

Criteria Provided
Conflicting Classifications

CA9444240

rs_550446238

4 SubmittersRCV000275615 RCV002521231 RCV002523067 RCV005434835

NM_181882.3(PRX):c.1500A>G (p.Ser500=)

SNV
Germline

Chr19:40396852

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444249

rs_777104457

7 SubmittersRCV000532474 RCV000442783 RCV001094603 RCV001172776 RCV002392883 RCV006263876

NM_181882.3(PRX):c.379C>T (p.Leu127=)

SNV
Germline

Chr19:40398622

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA10652470

rs_886054441

3 SubmittersRCV000314519 RCV000857067 RCV001361032

NM_181882.3(PRX):c.2832T>C (p.Ala944=)

SNV
Germline

Chr19:40395520

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9443971

rs_145226687

5 SubmittersRCV000425577 RCV000862651 RCV001131684 RCV002436311 RCV003902579

NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro)

SNV
Germline

Chr19:40394550

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9443783

rs_146061247

5 SubmittersRCV000460920 RCV001132595 RCV001173097 RCV001703726

NM_181882.3(PRX):c.4317C>T (p.Ser1439=)

SNV
Germline

Chr19:40394035

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA9443640

rs_372280596

4 SubmittersRCV000464273 RCV001337127 RCV002329132 RCV004999511

NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)

SNV
Germline

Chr19:40395624

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9443992

rs_145203783

4 SubmittersRCV000476039 RCV001132700 RCV002429526 RCV004696236

NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)

SNV
Germline

Chr19:40395804

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444034

rs_141686828

10 SubmittersRCV000461499 RCV000712866 RCV001136100 RCV001173750 RCV001643174 RCV002436448

NM_181882.3(PRX):c.3708G>A (p.Ala1236=)

SNV
Germline

Chr19:40394644

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9443803

rs_202119177

6 SubmittersRCV000531906 RCV000615828 RCV001135978 RCV001173093 RCV001811071 RCV002358617

NM_181882.3(PRX):c.1026A>C (p.Ala342=)

SNV
Germline

Chr19:40397326

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444337

rs_150772010

3 SubmittersRCV000538244 RCV001129237 RCV002384260

NM_181882.3(PRX):c.719G>A (p.Arg240Gln)

SNV
Germline

Chr19:40397633

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA9444391

rs_77917609

5 SubmittersRCV000554182 RCV001131934 RCV001546675 RCV002377182 RCV005000218

NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)

SNV
Germline

Chr19:40396983

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Condition: not provided
Inborn genetic diseases
PRX-related disorder

Criteria Provided
Conflicting Classifications

CA9444276

rs_142064826

5 SubmittersRCV000539162 RCV001136190 RCV001565702 RCV002384261 RCV003915651

NM_181882.3(PRX):c.2229C>T (p.Pro743=)

SNV
Germline

Chr19:40396123

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444107

rs_144975214

3 SubmittersRCV000547395 RCV001129130 RCV002431716

NM_181882.3(PRX):c.993G>A (p.Pro331=)

SNV
Germline

Chr19:40397359

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444344

rs_146323928

8 SubmittersRCV000558551 RCV001129238 RCV001173788 RCV001662607 RCV001584361 RCV002384262

NM_181882.3(PRX):c.1215C>T (p.Pro405=)

SNV
Germline

Chr19:40397137

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444301

rs_377184301

3 SubmittersRCV000654224 RCV001136191 RCV002358893

NM_181882.3(PRX):c.3703G>T (p.Glu1235Ter)

SNV
Germline

Chr19:40394649

Pathogenic

Charcot-Marie-Tooth disease type 4F

No Assertion Criteria Provided

CA405892600

rs_1385904344

1 SubmittersRCV000664232

NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)

SNV
Germline

Chr19:40396962

Pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Multiple Submitters
No Conflicts

CA9444273

rs_574861276

3 SubmittersRCV000703893 RCV001811452 RCV006440033

NM_181882.3(PRX):c.1090C>T (p.Arg364Ter)

SNV
Germline

Chr19:40397262

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Multiple Submitters
No Conflicts

CA9444329

rs_144183238

5 SubmittersRCV000789544 RCV001869224 RCV004696990 RCV005409738

NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)

SNV
Germline

Chr19:40395663

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease, type I
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Multiple Submitters
No Conflicts

CA9444001

rs_756689732

3 SubmittersRCV000800697 RCV000857052 RCV005392408

NM_181882.3(PRX):c.2715C>A (p.Thr905=)

SNV
Germline

Chr19:40395637

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9443997

rs_188765166

4 SubmittersRCV000863888 RCV001132701 RCV001172784 RCV003411841

NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)

SNV
Germline

Chr19:40396308

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4F
Dejerine-Sottas disease

Criteria Provided
Conflicting Classifications

CA9444131

rs_761277865

3 SubmittersRCV000865791 RCV002416010 RCV005392476

NM_181882.3(PRX):c.944G>A (p.Arg315Gln)

SNV
Germline

Chr19:40397408

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444354

rs_577197549

4 SubmittersRCV000868289 RCV001129240 RCV001173080 RCV004027719

NM_181882.3(PRX):c.732G>A (p.Ala244=)

SNV
Germline

Chr19:40397620

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA9444386

rs_769735682

2 SubmittersRCV001131933 RCV001398306

NM_181882.3(PRX):c.3963G>A (p.Glu1321=)

SNV
Germline

Chr19:40394389

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA9443727

rs_781159482

2 SubmittersRCV001132593 RCV002539220

NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)

SNV
Germline

Chr19:40395267

Likely pathogenic

Charcot-Marie-Tooth disease type 4F

No Assertion Criteria Provided

CA405894987

rs_1599651726

1 SubmittersRCV000985146

NM_181882.3(PRX):c.27+1G>T

SNV
Germline

Chr19:40407905

Pathogenic

Charcot-Marie-Tooth disease type 4F
PRX-related disorder

Criteria Provided
Single Submitter

CA405902026

rs_146342432

2 SubmittersRCV001030788 RCV004702566

NM_181882.3(PRX):c.3673G>A (p.Val1225Met)

SNV
Germline

Chr19:40394679

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9443813

rs_140880177

3 SubmittersRCV001039383 RCV001135980 RCV005255641

NM_181882.3(PRX):c.2850G>C (p.Gly950=)

SNV
Germline

Chr19:40395502

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA9443966

rs_770520776

2 SubmittersRCV001131683 RCV003769249

NM_181882.3(PRX):c.2509C>T (p.Leu837=)

SNV
Germline

Chr19:40395843

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA507679065

rs_1177784082

2 SubmittersRCV001136101 RCV001437118

NM_181882.3(PRX):c.2283G>A (p.Pro761=)

SNV
Germline

Chr19:40396069

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA507679504

rs_1340076007

2 SubmittersRCV001129126 RCV002070505

NM_181882.3(PRX):c.1818G>A (p.Pro606=)

SNV
Germline

Chr19:40396534

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444189

rs_768022787

4 SubmittersRCV001132793 RCV001173780 RCV001391962 RCV004960484

NM_181882.3(PRX):c.943C>T (p.Arg315Trp)

SNV
Germline

Chr19:40397409

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9444355

rs_763185527

3 SubmittersRCV001129241 RCV001856685 RCV002375031

NM_181882.3(PRX):c.825C>T (p.Leu275=)

SNV
Germline

Chr19:40397527

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9444377

rs_753268672

3 SubmittersRCV001131932 RCV001417387 RCV003425944

NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)

SNV
Unknown

Chr19:40396791

Likely pathogenic

Charcot-Marie-Tooth disease type 4F

Criteria Provided
Single Submitter

CA405898142

rs_200483634

1 SubmittersRCV001196692

NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)

SNV
Germline

Chr19:40398770

Pathogenic

Charcot-Marie-Tooth disease type 4
Gaucher disease
PRX-related disorder
Charcot-Marie-Tooth disease type 4F

Criteria Provided
Multiple Submitters
No Conflicts

CA405901329

rs_752192677

3 SubmittersRCV001231331 RCV004526818 RCV004579570 RCV002305577

NM_181882.3(PRX):c.2719C>T (p.Gln907Ter)

SNV
Unknown

Chr19:40395633

Likely pathogenic

Charcot-Marie-Tooth disease type 4F

Criteria Provided
Single Submitter

CA405895721

rs_2079426412

1 SubmittersRCV001330567