Total 47 pathogenic variants reported for Charcot-Marie-Tooth disease type 4D 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) SNV
Germline		 Chr8:133258374 Pathogenic Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340338 rs_119483085

11 SubmittersRCV000005427RCV000469692RCV001092150
NM_006096.4(NDRG1):c.538-1G>A SNV
Germline		 Chr8:133254596 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease		 No Assertion Criteria Provided
 CA186375958 rs_11575976

2 SubmittersRCV000005428RCV000790135
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) SNV
Germline		 Chr8:133259226 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D
Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA334740 rs_2233328

8 SubmittersRCV000168421RCV001173719RCV001095187RCV001704227RCV002321676RCV006439687
NM_006096.4(NDRG1):c.63+6T>C SNV
Germline		 Chr8:133284243 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
Inborn genetic diseases
Lung cancer
Uterine corpus endometrial carcinoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA338456 rs_199597649

8 SubmittersRCV000199191RCV001162094RCV001173036RCV002354566RCV005893600RCV005893601RCV006439775
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) SNV
Germline		 Chr8:133284281 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
NDRG1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA349792 rs_145871479

13 SubmittersRCV000710163RCV001173729RCV001162095RCV001083085RCV002321816RCV003417751RCV006439785
NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp) SNV
Germline		 Chr8:133239090 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4886454 rs_141078746

3 SubmittersRCV000232438RCV001164014RCV002379007
NM_006096.4(NDRG1):c.-19+14C>G SNV
Germline		 Chr8:133297120 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D
not specified		 Criteria Provided
Conflicting Classifications
 CA10624886 rs_886062716

2 SubmittersRCV000343267RCV000613453
NM_006096.4(NDRG1):c.894G>A (p.Pro298=) SNV
Germline		 Chr8:133242072 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4886486 rs_368061370

4 SubmittersRCV000392608RCV001095262RCV002446615
NM_006096.4(NDRG1):c.663C>T (p.Pro221=) SNV
Germline		 Chr8:133250475 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4886649 rs_377225752

6 SubmittersRCV000423340RCV000654230RCV001095156RCV002365427RCV005425944
NM_006096.4(NDRG1):c.*2C>T SNV
Germline		 Chr8:133238876 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease type 4D		 Criteria Provided
Conflicting Classifications
 CA4886399 rs_200367524

2 SubmittersRCV000442327RCV001162004
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) SNV
Germline		 Chr8:133247893 Conflicting classifications of pathogenicity not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
Inborn genetic diseases
NDRG1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4886586 rs_61755062

12 SubmittersRCV000424651RCV000712375RCV001081907RCV001164018RCV001173724RCV002418263RCV003922734
NM_006096.4(NDRG1):c.-8G>A SNV
Germline		 Chr8:133284319 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease type 4D
NDRG1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4886952 rs_200465804

3 SubmittersRCV000432184RCV001164118RCV003925299
NM_006096.4(NDRG1):c.205+1G>A SNV
Germline		 Chr8:133264546 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16612479 rs_1060503092

4 SubmittersRCV000468626RCV001782955RCV005600936
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=) SNV
Germline		 Chr8:133238962 Conflicting classifications of pathogenicity not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease		 Criteria Provided
Conflicting Classifications
 CA4886420 rs_201959970

7 SubmittersRCV000518210RCV000526572RCV001085980RCV001162006RCV001173035
NM_006096.4(NDRG1):c.944-13C>T SNV
Germline		 Chr8:133239132 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA4886457 rs_753312340

4 SubmittersRCV000615640RCV001173721RCV001164016RCV002062885
NM_006096.4(NDRG1):c.1155C>T (p.Ala385=) SNV
Germline		 Chr8:133238908 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4886408 rs_774605205

4 SubmittersRCV000870007RCV001162005RCV001704780RCV002358736
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser) SNV
Germline		 Chr8:133250452 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA4886643 rs_137993172

11 SubmittersRCV000654118RCV001159104RCV001173714RCV001731848RCV002360662RCV005418274
NM_006096.4(NDRG1):c.528C>G (p.Ala176=) SNV
Germline		 Chr8:133256786 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4886724 rs_191237702

4 SubmittersRCV000654205RCV001159107RCV002343382RCV005243328
NM_006096.4(NDRG1):c.158A>G (p.Lys53Arg) SNV
Germline		 Chr8:133264594 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4886871 rs_140634799

3 SubmittersRCV000804497RCV001825592RCV003166238
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile) SNV
Germline		 Chr8:133244372 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA4886518 rs_745520295

4 SubmittersRCV001002752RCV001164017RCV001279782
NM_006096.4(NDRG1):c.528C>T (p.Ala176=) SNV
Germline		 Chr8:133256786 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4886723 rs_191237702

4 SubmittersRCV000861561RCV001159106RCV001289033
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) SNV
Germline		 Chr8:133258368 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4886751 rs_150796527

7 SubmittersRCV000864008RCV001160458RCV001173708RCV002332779RCV004997411RCV004792559
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) SNV
Germline		 Chr8:133258413 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4886762 rs_202118022

4 SubmittersRCV000868261RCV001173718RCV001273467RCV002319991
NM_006096.4(NDRG1):c.944-1G>T SNV
Germline		 Chr8:133239120 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4D
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372254669 rs_1588216753

3 SubmittersRCV000985080RCV001509350
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=) SNV
Germline		 Chr8:133239022 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA463217108 rs_1467447359

2 SubmittersRCV001162008RCV003581774
NM_006096.4(NDRG1):c.951G>A (p.Ser317=) SNV
Germline		 Chr8:133239112 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA463217393 rs_1310471207

3 SubmittersRCV001164015RCV001295233
NM_006096.4(NDRG1):c.270C>T (p.Ala90=) SNV
Germline		 Chr8:133262103 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA4886838 rs_200328537

3 SubmittersRCV001162093RCV001278102
NM_006096.4(NDRG1):c.100-3C>T SNV
Germline		 Chr8:133264655 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D		 Criteria Provided
Conflicting Classifications
 CA4886884 rs_775475505

3 SubmittersRCV001173722RCV001240869RCV001833729
NM_006096.4(NDRG1):c.537+18C>T SNV
Germline		 Chr8:133256759 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA4886712 rs_779638529

2 SubmittersRCV001335378RCV002070200
NM_006096.4(NDRG1):c.237C>A (p.Tyr79Ter) SNV
Germline		 Chr8:133262136 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4D Criteria Provided
Multiple Submitters
No Conflicts
 CA372256335 rs_199928197

2 SubmittersRCV001353163
NM_006096.4(NDRG1):c.755+1G>A SNV
Germline		 Chr8:133248714 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4D		 Criteria Provided
Conflicting Classifications
 CA372255138 rs_2130692394

2 SubmittersRCV001379811RCV005094514
NM_006096.4(NDRG1):c.327-1G>A SNV
Germline		 Chr8:133259231 Pathogenic Charcot-Marie-Tooth disease type 4D Criteria Provided
Single Submitter
 CA372256124 rs_2130727581

1 SubmittersRCV001784718
NM_006096.4(NDRG1):c.390-2A>G SNV
Germline		 Chr8:133258428 Likely pathogenic Charcot-Marie-Tooth disease type 4D
Ovarian serous cystadenocarcinoma		 Criteria Provided
Single Submitter
 CA372255974 rs_2538056425

2 SubmittersRCV002283960RCV005930267
NM_006096.4(NDRG1):c.259C>T (p.Gln87Ter) SNV
Germline		 Chr8:133262114 Likely pathogenic Charcot-Marie-Tooth disease type 4D Criteria Provided
Single Submitter
 CA372256278 rs_2538069534

1 SubmittersRCV003135341
NM_006096.4(NDRG1):c.892-1G>C SNV
Germline		 Chr8:133242075 Likely pathogenic Charcot-Marie-Tooth disease type 4D Criteria Provided
Single Submitter

1 SubmittersRCV005051561
NM_006096.4(NDRG1):c.807+2T>C SNV
Germline		 Chr8:133247873 Likely pathogenic Charcot-Marie-Tooth disease type 4D Criteria Provided
Single Submitter

1 SubmittersRCV005048296
NM_006096.4(NDRG1):c.516G>A (p.Trp172Ter) SNV
Germline		 Chr8:133256798 Likely pathogenic Charcot-Marie-Tooth disease type 4D Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005048298
NM_006096.4(NDRG1):c.390-1G>A SNV
Germline		 Chr8:133258427 Pathogenic Charcot-Marie-Tooth disease type 4D Criteria Provided
Single Submitter

1 SubmittersRCV005253445
NM_006096.4(NDRG1):c.63+1G>C SNV
Germline		 Chr8:133284248 Likely pathogenic Charcot-Marie-Tooth disease type 4D No Assertion Criteria Provided

1 SubmittersRCV005607344