Total 33 pathogenic variants reported for Dejerine-Sottas disease 
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.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_000304.4(PMP22):c.36C>A (p.His12Gln) SNV
Germline		 Chr17:15260692 Pathogenic/Likely pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Charcot-Marie-Tooth disease, type I
Inborn genetic diseases
Dejerine-Sottas disease
Roussy-Lévy syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119622 rs_104894622

5 SubmittersRCV000008949RCV000168060RCV000622783RCV000790177RCV001195890
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) SNV
Germline		 ChrX:71224114 Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1
Dejerine-Sottas disease		 No Assertion Criteria Provided
 CA121071 rs_104894826

2 SubmittersRCV000011196RCV000011197
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) SNV
Germline		 Chr1:161307304 Pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123796 rs_121913585

5 SubmittersRCV000015232RCV000390750RCV000789439RCV000803240
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) SNV
Germline		 Chr1:161306414 Pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Dejerine-Sottas disease
7 conditions
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123798 rs_121913586

5 SubmittersRCV000015233RCV000032123RCV000198029RCV001851867
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) SNV
Germline		 Chr1:161306752 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1B
Condition: not provided
Dejerine-Sottas disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257146 rs_121913587

3 SubmittersRCV000015235RCV000425572RCV001807729
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) SNV
Germline		 Chr10:62813563 Pathogenic Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease
Dejerine-sottas neuropathy, autosomal dominant
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126845 rs_104894161

9 SubmittersRCV000498897RCV000032120RCV000856959RCV000018236RCV000018237RCV000231023
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys) SNV
Germline		 Chr10:62813404 Pathogenic Dejerine-sottas neuropathy, autosomal dominant
Charcot-Marie-Tooth disease, type I
Dejerine-Sottas disease		 Criteria Provided
Single Submitter
 CA126847 rs_121434563

3 SubmittersRCV000018238RCV001233037RCV003447084
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) SNV
Germline		 Chr1:161307403 Likely pathogenic Charcot-Marie-Tooth disease type 1B
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343888 rs_281865121

4 SubmittersRCV000033911RCV000789434RCV001051613RCV004719671
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) SNV
Germline		 Chr17:15230953 Pathogenic Condition: not provided
Dejerine-Sottas disease		 Criteria Provided
Single Submitter
 CA10577555 rs_775019409

2 SubmittersRCV000213954RCV000790160
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) SNV
Germline		 Chr17:15230951 Pathogenic Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10584542 rs_879253954

3 SubmittersRCV000236879RCV000790159RCV001209293
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

6 SubmittersRCV000236385RCV000764202RCV000802296RCV001136189RCV002401925RCV003333056
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter) SNV
Germline		 Chr19:40397178 Pathogenic/Likely pathogenic Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9444311 rs_773009397

3 SubmittersRCV000235669RCV000789534RCV001057364
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) SNV
Germline		 Chr17:15230951 Pathogenic Charcot-Marie-Tooth disease type 1E
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA		 Criteria Provided
Multiple Submitters
No Conflicts
 CA398739500 rs_879253954

3 SubmittersRCV000499331RCV001857035RCV004819225
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) SNV
Germline		 Chr1:161306788 Likely pathogenic Condition: not provided
Dejerine-Sottas disease		 Criteria Provided
Single Submitter
 CA343349009 rs_1553259656

2 SubmittersRCV000521410RCV000790057
NM_000530.8(MPZ):c.411C>T (p.Gly137=) SNV
Germline		 Chr1:161306745 Pathogenic Charcot-Marie-Tooth disease, type I
Dejerine-Sottas disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1558153994

3 SubmittersRCV000700482RCV000789490RCV004719959
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) SNV
Germline		 Chr1:161306776 Pathogenic/Likely pathogenic Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_797044941

3 SubmittersRCV000789474RCV002536917
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg) SNV
Germline		 Chr17:15239492 Pathogenic Dejerine-Sottas disease Criteria Provided
Single Submitter
 rs_1597607651

2 SubmittersRCV000790144
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro) SNV
Germline		 Chr17:15239555 Pathogenic Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Single Submitter
 rs_863225027

2 SubmittersRCV000790146RCV003581730
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) SNV
Germline		 Chr17:15239575 Pathogenic/Likely pathogenic Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104894621

3 SubmittersRCV000790174RCV000802360RCV001580546
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) SNV
Germline		 Chr17:15239576 Pathogenic Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Single Submitter
 rs_1597608086

2 SubmittersRCV000789526RCV002535807
NM_000530.8(MPZ):c.234G>A (p.Ser78=) SNV
Germline		 Chr1:161307258 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
Dejerine-Sottas disease
Inborn genetic diseases
Charcot-Marie-Tooth disease type 1B		 Criteria Provided
Conflicting Classifications
 rs_368149365

5 SubmittersRCV001231540RCV001329968RCV002447158RCV003482910
NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly) SNV
Germline		 Chr10:62813406 Pathogenic Dejerine-Sottas disease Criteria Provided
Single Submitter
 rs_2132702182

1 SubmittersRCV002051605
NM_000399.5(EGR2):c.1152C>A (p.His384Gln) SNV
Germline		 Chr10:62813486 Pathogenic Dejerine-Sottas disease Criteria Provided
Single Submitter
 rs_2132702519

1 SubmittersRCV002249928
NM_000304.4(PMP22):c.34C>T (p.His12Tyr) SNV
Germline		 Chr17:15260694 Likely pathogenic Dejerine-Sottas disease Criteria Provided
Single Submitter
 rs_2150710219

1 SubmittersRCV002251247