Total 72 pathogenic variants reported for Charcot-Marie-Tooth disease type 4F 
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 SubmittersRCV000005053RCV000201141RCV000236836RCV000458979RCV001172752RCV004751202

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 SubmittersRCV000005055RCV000760443RCV000688310RCV001353155RCV001813951RCV002453248

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 SubmittersRCV000005057RCV000789537RCV001222897RCV001781189

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 SubmittersRCV000032004RCV000474032RCV000760319RCV001172756RCV002426489

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 SubmittersRCV000005061RCV000032006RCV000701391

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 SubmittersRCV000202796RCV001086843RCV001172771RCV001509034RCV001135981RCV002453729

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 SubmittersRCV000236667RCV000416164RCV001080434RCV001172781RCV001129129RCV002444813RCV003947662

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 SubmittersRCV000195707RCV000415792RCV000493878RCV001094576RCV001449601RCV001173081RCV002426952RCV003917822

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 SubmittersRCV000576841RCV000762017RCV001084142RCV001173957RCV001795335

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 SubmittersRCV000228501RCV000431721RCV000658836RCV000789549RCV001094584RCV002401915

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 SubmittersRCV000236760RCV000559953RCV000767048RCV001094578RCV001173096

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 SubmittersRCV000235608RCV000658835RCV001085498RCV001172782RCV001128999RCV001358805RCV002450720

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 SubmittersRCV000474498RCV000766571RCV001131681RCV001283504RCV001172762RCV001814975RCV002321902

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 SubmittersRCV000545891RCV001094582RCV001172787RCV001705304RCV002401919RCV003947804RCV004999164

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 SubmittersRCV000236385RCV000764202RCV000802296RCV001136189RCV002401925RCV003333056

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 SubmittersRCV000235532RCV001241256RCV002379040RCV005396828

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 SubmittersRCV000325086RCV001433368RCV002356446

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 SubmittersRCV000543504RCV001002435RCV001094599RCV001815312RCV002450890RCV003969940

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 SubmittersRCV000426746RCV000654199RCV001859947RCV002450892RCV006263877

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 SubmittersRCV000372000RCV001445203RCV002379212RCV003418038

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 SubmittersRCV000263431RCV000601170RCV002057513RCV002374560RCV003897754RCV005641595

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 SubmittersRCV000261903RCV001613063

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 SubmittersRCV000279489RCV002057512RCV002450891

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 SubmittersRCV000379210RCV001498314RCV002365391RCV005398448

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 SubmittersRCV000288813RCV001173089RCV001426880RCV002356448

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 SubmittersRCV000275615RCV002521231RCV002523067RCV005434835

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 SubmittersRCV000532474RCV000442783RCV001094603RCV001172776RCV002392883RCV006263876

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 SubmittersRCV000314519RCV000857067RCV001361032

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 SubmittersRCV000425577RCV000862651RCV001131684RCV002436311RCV003902579

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 SubmittersRCV000460920RCV001132595RCV001173097RCV001703726

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 SubmittersRCV000464273RCV001337127RCV002329132RCV004999511

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 SubmittersRCV000476039RCV001132700RCV002429526RCV004696236

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 SubmittersRCV000461499RCV000712866RCV001136100RCV001173750RCV001643174RCV002436448

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 SubmittersRCV000531906RCV000615828RCV001135978RCV001173093RCV001811071RCV002358617

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 SubmittersRCV000538244RCV001129237RCV002384260

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 SubmittersRCV000554182RCV001131934RCV001546675RCV002377182RCV005000218

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 SubmittersRCV000539162RCV001136190RCV001565702RCV002384261RCV003915651

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 SubmittersRCV000547395RCV001129130RCV002431716

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 SubmittersRCV000558551RCV001129238RCV001173788RCV001662607RCV001584361RCV002384262

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 SubmittersRCV000654224RCV001136191RCV002358893

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 SubmittersRCV000703893RCV001811452RCV006440033

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 SubmittersRCV000789544RCV001869224RCV004696990RCV005409738

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 SubmittersRCV000800697RCV000857052RCV005392408

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 SubmittersRCV000863888RCV001132701RCV001172784RCV003411841

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 SubmittersRCV000865791RCV002416010RCV005392476

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 SubmittersRCV000868289RCV001129240RCV001173080RCV004027719

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 SubmittersRCV001131933RCV001398306

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 SubmittersRCV001132593RCV002539220

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 SubmittersRCV001030788RCV004702566

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 SubmittersRCV001039383RCV001135980RCV005255641

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 SubmittersRCV001131683RCV003769249

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 SubmittersRCV001136101RCV001437118

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 SubmittersRCV001129126RCV002070505

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 SubmittersRCV001132793RCV001173780RCV001391962RCV004960484

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 SubmittersRCV001129241RCV001856685RCV002375031

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 SubmittersRCV001131932RCV001417387RCV003425944

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 SubmittersRCV001231331RCV004526818RCV004579570RCV002305577

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