Total 58 pathogenic variants reported for Charcot-Marie-Tooth disease axonal type 2F 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) SNV
Germline		 Chr7:76303841 Pathogenic Charcot-Marie-Tooth disease axonal type 2F
Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118820 rs_28939680

5 SubmittersRCV000007904RCV000007905RCV000789332RCV003482225
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) SNV
Germline		 Chr7:76303816 Pathogenic Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118822 rs_29001571

8 SubmittersRCV000007906RCV000007907RCV000489743RCV002354152
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) SNV
Germline		 Chr7:76304007 Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118824 rs_28937568

5 SubmittersRCV000007908RCV000809687RCV001174177RCV001815164
NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu) SNV
Germline		 Chr7:76304100 Pathogenic Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Single Submitter
 CA118826 rs_28937569

2 SubmittersRCV000007909RCV005089204
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp) SNV
Germline		 Chr7:76303843 Pathogenic Charcot-Marie-Tooth disease axonal type 2F Criteria Provided
Single Submitter
 CA254190 rs_28939681

2 SubmittersRCV000007910
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) SNV
Germline		 Chr7:76304099 Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118828 rs_104894020

4 SubmittersRCV000007911RCV000809907
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) SNV
Germline		 Chr7:76303855 Pathogenic Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Condition: not provided
HSPB1-related axonal neuropathies
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2F
Neuronopathy, distal hereditary motor, type 2B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118831 rs_121909112

12 SubmittersRCV000007912RCV000688660RCV001174175RCV001508210RCV001794438RCV002326670RCV005042012
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) SNV
Germline		 Chr7:76303817 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270935 rs_587781250

3 SubmittersRCV000144874RCV001048111
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) SNV
Germline		 Chr7:76304165 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F
Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 2B
Inborn genetic diseases
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA337796 rs_367857772

10 SubmittersRCV000198307RCV000765975RCV001174181RCV001159593RCV002354564RCV001531672RCV005418015
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) SNV
Germline		 Chr7:76303844 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Multiple Submitters
No Conflicts
 CA279079 rs_863225022

9 SubmittersRCV000201072RCV000236739RCV000622699RCV000789060RCV005409633
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) SNV
Germline		 Chr7:76304078 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Charcot-Marie-Tooth disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA279092 rs_863225023

4 SubmittersRCV000201127RCV000236115RCV000857186
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) SNV
Germline		 Chr7:76302962 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
Distal hereditary motor neuropathy type 2
Neuronopathy, distal hereditary motor, type 2B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA348720 rs_770272088

10 SubmittersRCV000204495RCV000789334RCV000992169RCV002426966RCV003993892RCV004786551
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) SNV
Germline		 Chr7:76302792 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Inborn genetic diseases
HSPB1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA4306247 rs_367662394

9 SubmittersRCV000416180RCV001086814RCV001174176RCV002418035RCV004532976RCV004782326
NM_001540.5(HSPB1):c.417G>A (p.Thr139=) SNV
Germline		 Chr7:76303854 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4306383 rs_754991269

3 SubmittersRCV000402853RCV001480817RCV002328773
NM_001540.3(HSPB1):c.-122G>T SNV
Germline		 Chr7:76302591 Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10626441 rs_553127513

3 SubmittersRCV000269982RCV000369349RCV003430939
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) SNV
Germline		 Chr7:76302928 Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10626442 rs_11547168

3 SubmittersRCV000278632RCV000338392RCV002429324
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) SNV
Germline		 Chr7:76303820 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2F
Neuronopathy, distal hereditary motor, type 2B
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4306372 rs_558882005

4 SubmittersRCV001172549RCV000705379RCV000678497RCV002365422
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) SNV
Germline		 Chr7:76302728 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4306231 rs_1049324

4 SubmittersRCV001087087RCV000762456RCV002411496
NM_001540.5(HSPB1):c.416C>T (p.Thr139Met) SNV
Germline		 Chr7:76303853 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618562 rs_1064795077

4 SubmittersRCV001383411RCV000486834
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) SNV
Germline		 Chr7:76302989 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease		 Criteria Provided
Conflicting Classifications
 CA4306301 rs_777201941

3 SubmittersRCV000498200RCV001084552RCV001172550
NM_001540.5(HSPB1):c.364+6C>G SNV
Germline		 Chr7:76303082 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2F
Neuronopathy, distal hereditary motor, type 2B
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4306314 rs_753061670

7 SubmittersRCV000518370RCV001172559RCV001051779RCV001162476RCV000727252RCV002455992
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) SNV
Germline		 Chr7:76304094 Pathogenic/Likely pathogenic Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367766323 rs_1422978230

4 SubmittersRCV000516728RCV000789962RCV000820858
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) SNV
Germline		 Chr7:76303809 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Conflicting Classifications
 CA4306366 rs_145243219

7 SubmittersRCV000711974RCV001172546RCV002350273RCV000558321
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) SNV
Germline		 Chr7:76304087 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F Criteria Provided
Single Submitter
 CA367766252 rs_150110356

1 SubmittersRCV000535288
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) SNV
Germline		 Chr7:76302828 Pathogenic Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
HSPB1-related disorder
Neuronopathy, distal hereditary motor, type 2B
HSPB1-related axonal neuropathies
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4306259 rs_557327165

9 SubmittersRCV000641079RCV000789058RCV004544855RCV001197515RCV001796974RCV002060745
NM_001540.5(HSPB1):c.365-6C>G SNV
Germline		 Chr7:76303796 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Neuronopathy, distal hereditary motor, type 2B
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA4306358 rs_200902768

6 SubmittersRCV000641081RCV001172547RCV000857185RCV001164521RCV005427198RCV005435977
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) SNV
Germline		 Chr7:76303841 Pathogenic Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided
Charcot-Marie-Tooth disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367765473 rs_28939680

3 SubmittersRCV000641078RCV001268034RCV000789965
NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala) SNV
Germline		 Chr7:76303852 Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Conflicting Classifications
 CA367765535 rs_1554614648

3 SubmittersRCV000664215RCV003336128
NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser) SNV
Germline		 Chr7:76302731 Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Conflicting Classifications
 CA367762689 rs_1563651698

2 SubmittersRCV000678494RCV001366718
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu) SNV
Germline		 Chr7:76304115 Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Conflicting Classifications
 CA367767133 rs_774585320

3 SubmittersRCV000678498RCV003482296RCV002544689
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) SNV
Germline		 Chr7:76302732 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA367762694 rs_1405359814

2 SubmittersRCV000705280RCV004719966
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala) SNV
Germline		 Chr7:76303840 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F Criteria Provided
Single Submitter
 CA4306380 rs_766728475

1 SubmittersRCV000684870
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) SNV
Germline		 Chr7:76302962 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F
HSPB1-related disorder
Neuronopathy, distal hereditary motor, type 2B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367763201 rs_770272088

7 SubmittersRCV000789964RCV001268008RCV001873176RCV004527794RCV005409734
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys) SNV
Germline		 Chr7:76303841 Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367765476 rs_28939680

3 SubmittersRCV001328847RCV003992393RCV000789059
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) SNV
Germline		 Chr7:76302922 Conflicting classifications of pathogenicity Condition: not provided
Neuronopathy, distal hereditary motor, type 2B
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Conflicting Classifications
 CA4306289 rs_749963653

4 SubmittersRCV000840897RCV001160859RCV001160860
NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln) SNV
Germline		 Chr7:76303844 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367765485 rs_863225022

3 SubmittersRCV002549107RCV000998811
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter) SNV
Germline		 Chr7:76302865 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Conflicting Classifications
 CA4306272 rs_769118115

3 SubmittersRCV001174174RCV003132251RCV001873634
NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp) SNV
Germline		 Chr7:76302962 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4306296 rs_770272088

2 SubmittersRCV001220029RCV004584867
NM_001540.5(HSPB1):c.544C>G (p.Pro182Ala) SNV
Germline		 Chr7:76304099 Pathogenic Charcot-Marie-Tooth disease axonal type 2F Criteria Provided
Multiple Submitters
No Conflicts
 CA367766359 rs_104894020

2 SubmittersRCV001217374
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile) SNV
Germline		 Chr7:76302715 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA367762603 rs_1173242313

2 SubmittersRCV001202462RCV002356874
NM_001540.5(HSPB1):c.570G>C (p.Gln190His) SNV
Germline		 Chr7:76304125 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F Criteria Provided
Conflicting Classifications
 CA4306448 rs_764297134

2 SubmittersRCV001250991
NM_001540.5(HSPB1):c.321C>A (p.Asp107Glu) SNV
Germline		 Chr7:76303033 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA367763504 rs_1433396777

2 SubmittersRCV002014692RCV002563586
NM_001540.5(HSPB1):c.365-5C>A SNV
Germline		 Chr7:76303797 Conflicting classifications of pathogenicity Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2F		 Criteria Provided
Conflicting Classifications
 CA575786726 rs_368936457

2 SubmittersRCV002346653RCV003102418
NM_001540.5(HSPB1):c.116C>G (p.Pro39Arg) SNV
Germline		 Chr7:76302828 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F Criteria Provided
Single Submitter
 CA160899027 rs_557327165

1 SubmittersRCV003617756