Total 246 pathogenic variants reported for Charcot-Marie-Tooth disease axonal type 2S 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) SNV
Germline		 Chr11:68934466 Pathogenic Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254642 rs_137852665

6 SubmittersRCV000235520RCV000693255RCV000235071RCV004018607RCV004799738
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) SNV
Germline		 Chr11:68911530 Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254644 rs_137852666

6 SubmittersRCV001095539RCV000664227RCV003764541RCV003488333
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) SNV
Germline		 Chr11:68935404 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Peripheral neuropathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254646 rs_137852667

7 SubmittersRCV000535929RCV000664209RCV001813969RCV003114179
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter) SNV
Germline		 Chr11:68906103 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA254648 rs_137852668

2 SubmittersRCV000009685RCV003764542
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter) SNV
Germline		 Chr11:68911599 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254652 rs_137852669

3 SubmittersRCV000009687RCV001807723
NM_002180.3(IGHMBP2):c.2611+1G>T SNV
Germline		 Chr11:68937092 Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Neuronopathy, distal hereditary motor, autosomal dominant		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254655 rs_786205090

4 SubmittersRCV000009688RCV000598811RCV000528403RCV000789975
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) SNV
Germline		 Chr11:68906120 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Peripheral neuropathy
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346109 rs_372000714

11 SubmittersRCV000149574RCV000255598RCV000550952RCV000790277RCV000995566RCV001814070RCV002390316
NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val) SNV
Germline		 Chr11:68911496 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease		 No Assertion Criteria Provided
 CA211918 rs_724159958

2 SubmittersRCV000149576RCV000192259
NM_002180.3(IGHMBP2):c.1118T>G (p.Val373Gly) SNV
Germline		 Chr11:68929240 Pathogenic Charcot-Marie-Tooth disease axonal type 2S No Assertion Criteria Provided
 CA211920 rs_724159959

1 SubmittersRCV000149577
NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr) SNV
Germline		 Chr11:68934508 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA211922 rs_724159960

4 SubmittersRCV000149578RCV000236327RCV002390317
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) SNV
Germline		 Chr11:68938188 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA240298 rs_141903179

7 SubmittersRCV000702785RCV000724757RCV001173571RCV002453610
NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=) SNV
Germline		 Chr11:68939545 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA240494 rs_112870015

2 SubmittersRCV000174872RCV002056927
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) SNV
Germline		 Chr11:68939671 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA240497 rs_147674615

12 SubmittersRCV000712265RCV001084583RCV001706121RCV005410890RCV001173329RCV001336444RCV002433765
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) SNV
Germline		 Chr11:68939542 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease		 Criteria Provided
Conflicting Classifications
 CA240499 rs_139926138

7 SubmittersRCV000384551RCV000724480RCV001085294RCV001174195
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) SNV
Germline		 Chr11:68914966 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA246644 rs_147409148

5 SubmittersRCV000724748RCV001088646RCV001174201RCV002408776
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) SNV
Germline		 Chr11:68914943 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA246650 rs_144681826

6 SubmittersRCV000179404RCV000525446RCV002426859
NM_002180.3(IGHMBP2):c.449+1G>T SNV
Germline		 Chr11:68908338 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347307 rs_797044802

6 SubmittersRCV000240669RCV000789355RCV003765161
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) SNV
Germline		 Chr11:68934517 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Conflicting Classifications
 CA347304 rs_756985703

6 SubmittersRCV000192261RCV003227706RCV000642641RCV001808463
NM_002180.3(IGHMBP2):c.2784+1G>T SNV
Germline		 Chr11:68938355 Pathogenic Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA347308 rs_797044803

2 SubmittersRCV000192264RCV001852432
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter) SNV
Germline		 Chr11:68906074 Pathogenic 7 conditions
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351262 rs_863224880

2 SubmittersRCV000584806RCV003765465
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn) SNV
Germline		 Chr11:68911552 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA351265 rs_863224881

1 SubmittersRCV002518403
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) SNV
Germline		 Chr11:68903954 Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10575803 rs_886037759

3 SubmittersRCV000240656RCV000624850RCV000810966
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) SNV
Germline		 Chr11:68933854 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Neuronopathy, distal hereditary motor, autosomal dominant
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153653 rs_780594709

11 SubmittersRCV000240662RCV000223974RCV000240667RCV000693518RCV000789340RCV002390539
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) SNV
Germline		 Chr11:68914878 Conflicting classifications of pathogenicity Condition: not provided
not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
Charcot-Marie-Tooth disease		 Criteria Provided
Conflicting Classifications
 CA249155 rs_148095551

11 SubmittersRCV000767054RCV000202957RCV000528045RCV000330776RCV001336447RCV002399756RCV001173346
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) SNV
Germline		 Chr11:68906109 Pathogenic/Likely pathogenic Distal spinal muscular atrophy
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
IGHMBP2-related disorder
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153192 rs_200089714

9 SubmittersRCV000221711RCV000482426RCV001059408RCV003335233RCV004764781
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) SNV
Germline		 Chr11:68914968 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153412 rs_200566598

5 SubmittersRCV000222500RCV000296226RCV000792933RCV002444872
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) SNV
Germline		 Chr11:68929315 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Inborn genetic diseases
IGHMBP2-related disorder		 Criteria Provided
Conflicting Classifications
 CA6153539 rs_35193202

12 SubmittersRCV000407593RCV000726894RCV001079219RCV001173579RCV002338693RCV004547564
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) SNV
Germline		 Chr11:68933864 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Neurodevelopmental disorder
Inborn genetic diseases
IGHMBP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153662 rs_145226920

20 SubmittersRCV000219401RCV000235082RCV000539394RCV000780353RCV001172566RCV002277579RCV002390588RCV004739623
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) SNV
Germline		 Chr11:68939621 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6154050 rs_141873613

5 SubmittersRCV000400759RCV000532451RCV001173344RCV001722203RCV002433941
NM_002180.3(IGHMBP2):c.548-10T>G SNV
Germline		 Chr11:68911430 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
IGHMBP2-related disorder		 Criteria Provided
Conflicting Classifications
 CA6153325 rs_139207271

8 SubmittersRCV000224372RCV000266650RCV001084295RCV001172567RCV004547568
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) SNV
Germline		 Chr11:68936288 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Conflicting Classifications
 CA6153783 rs_151079750

6 SubmittersRCV000224756RCV000557414RCV000790280RCV001173328RCV003235149
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) SNV
Germline		 Chr11:68929204 Pathogenic Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153517 rs_201060167

10 SubmittersRCV000236185RCV000544728RCV000790269RCV001027460RCV002272190RCV002429143RCV002265708
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) SNV
Germline		 Chr11:68933358 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153597 rs_370414354

5 SubmittersRCV000236000RCV000763763RCV002379045
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu) SNV
Germline		 Chr11:68934542 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10584389 rs_879253887

3 SubmittersRCV000235493RCV000677264RCV001244709
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) SNV
Germline		 Chr11:68935403 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10584390 rs_368775789

4 SubmittersRCV000236280RCV001332102RCV003765468RCV003330603
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) SNV
Germline		 Chr11:68936324 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153793 rs_201640213

6 SubmittersRCV000235293RCV000551552RCV001112400RCV001173562RCV002411069
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu) SNV
Germline		 Chr11:68936570 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153835 rs_77807333

6 SubmittersRCV000819702RCV000727325RCV002418044
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) SNV
Germline		 Chr11:68936656 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153850 rs_143986510

10 SubmittersRCV000532649RCV000726111RCV001109737RCV002429144
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) SNV
Germline		 Chr11:68936840 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153889 rs_141594765

10 SubmittersRCV000348006RCV000514865RCV001082293RCV001173331RCV002450728
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) SNV
Germline		 Chr11:68936849 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153897 rs_147038490

8 SubmittersRCV000235815RCV000547188RCV001110520RCV002444933
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) SNV
Germline		 Chr11:68938244 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153983 rs_201970407

5 SubmittersRCV000236947RCV000376875RCV001089049RCV002429148
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) SNV
Germline		 Chr11:68939586 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA6154036 rs_149824485

12 SubmittersRCV000236700RCV000292250RCV000556244RCV001173347RCV002436064RCV005238784
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) SNV
Germline		 Chr11:68937025 Conflicting classifications of pathogenicity not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153935 rs_2228208

8 SubmittersRCV000248917RCV000873173RCV001112494RCV001172575RCV001705362RCV002429187
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter) SNV
Germline		 Chr11:68937040 Pathogenic Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153941 rs_750024353

2 SubmittersRCV000398288RCV001859559
NM_002180.3(IGHMBP2):c.1060+8G>T SNV
Germline		 Chr11:68917891 Conflicting classifications of pathogenicity not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA6153487 rs_201147313

8 SubmittersRCV000341120RCV000725441RCV001080208RCV001174191RCV000398567
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) SNV
Germline		 Chr11:68935403 Conflicting classifications of pathogenicity Condition: not provided
not specified
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA6153749 rs_368775789

5 SubmittersRCV000512971RCV000383801RCV002401992RCV001443493
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) SNV
Germline		 Chr11:68917883 Pathogenic/Likely pathogenic Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10605930 rs_886043773

3 SubmittersRCV000596478RCV000819925RCV005238852
NM_002180.3(IGHMBP2):c.547+9T>G SNV
Germline		 Chr11:68908640 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA10631430 rs_886048603

2 SubmittersRCV000359413RCV001472566
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) SNV
Germline		 Chr11:68917838 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153473 rs_149045005

6 SubmittersRCV000338066RCV000531307RCV001509408RCV001173563RCV002338881
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) SNV
Germline		 Chr11:68929247 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease		 Criteria Provided
Conflicting Classifications
 CA6153528 rs_140296831

5 SubmittersRCV000361659RCV000642649RCV000615491RCV002436147RCV001173581
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) SNV
Germline		 Chr11:68933353 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153592 rs_140654955

10 SubmittersRCV000365010RCV000533786RCV001174189RCV001310974RCV002379179
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) SNV
Germline		 Chr11:68906085 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153191 rs_199586231

6 SubmittersRCV000295254RCV001081103RCV000839297RCV001173561RCV002392841
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=) SNV
Germline		 Chr11:68914825 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA6153374 rs_755582766

2 SubmittersRCV000270257RCV000907808
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) SNV
Germline		 Chr11:68915012 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153433 rs_139635469

3 SubmittersRCV000334725RCV000554904RCV002374520
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=) SNV
Germline		 Chr11:68929316 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153540 rs_745534850

3 SubmittersRCV000308054RCV001397488RCV002338882
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) SNV
Germline		 Chr11:68936520 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10639270 rs_886048606

3 SubmittersRCV000282819RCV002520754RCV002418155
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) SNV
Germline		 Chr11:68936835 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153887 rs_147954772

6 SubmittersRCV000309657RCV000529178RCV001174186RCV001171658RCV002446558
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=) SNV
Germline		 Chr11:68939605 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6154042 rs_759627672

4 SubmittersRCV000349487RCV001444386RCV002436149RCV004808675
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=) SNV
Germline		 Chr11:68911588 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153358 rs_748899869

3 SubmittersRCV000362514RCV003765799RCV002365353
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) SNV
Germline		 Chr11:68914837 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA10639942 rs_76690064

3 SubmittersRCV000327712RCV002379177RCV003765800
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=) SNV
Germline		 Chr11:68917786 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA6153464 rs_771900045

3 SubmittersRCV000280733RCV002374521RCV003765801
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) SNV
Germline		 Chr11:68933798 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153644 rs_61731907

7 SubmittersRCV000330441RCV000479567RCV001173336RCV001086737RCV002392842
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) SNV
Germline		 Chr11:68936704 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153862 rs_754473710

4 SubmittersRCV000287365RCV002056236RCV002429255RCV003133219
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) SNV
Germline		 Chr11:68936841 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153890 rs_187924099

3 SubmittersRCV000392458RCV002056237RCV002446559
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) SNV
Germline		 Chr11:68937012 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
not specified
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153931 rs_2228207

5 SubmittersRCV000297508RCV000443898RCV000536713RCV001172588RCV002429256
NM_002180.3(IGHMBP2):c.2612-15G>A SNV
Germline		 Chr11:68938167 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA6153966 rs_372230504

4 SubmittersRCV000354662RCV000422959RCV001172582RCV002520755
NM_002180.3(IGHMBP2):c.547+1G>A SNV
Germline		 Chr11:68908632 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042766 rs_1057518588

5 SubmittersRCV000412903RCV000754569RCV000642629
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) SNV
Germline		 Chr11:68906163 Conflicting classifications of pathogenicity Lower limb muscle weakness
Difficulty walking
Inability to walk
Hammertoe
Progressive muscle weakness
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA16043462 rs_1057518943

5 SubmittersRCV000415346RCV000702154RCV000754728
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter) SNV
Germline		 Chr11:68917781 Pathogenic/Likely pathogenic Lower limb muscle weakness
Difficulty walking
Inability to walk
Hammertoe
Progressive muscle weakness
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153462 rs_773690764

4 SubmittersRCV000415032RCV000789659RCV003987526RCV002521458
NM_002180.3(IGHMBP2):c.1236-10C>T SNV
Germline		 Chr11:68933289 Conflicting classifications of pathogenicity not specified
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA6153581 rs_778515935

3 SubmittersRCV000440173RCV001111940RCV000952092
NM_002180.3(IGHMBP2):c.2612-13G>A SNV
Germline		 Chr11:68938169 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Conflicting Classifications
 CA6153969 rs_369494910

2 SubmittersRCV001698304RCV002059966
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=) SNV
Germline		 Chr11:68938189 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153970 rs_373001247

5 SubmittersRCV001172583RCV000761791RCV001488391RCV002451034
NM_002180.3(IGHMBP2):c.2784+7C>T SNV
Germline		 Chr11:68938361 Conflicting classifications of pathogenicity not specified
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Conflicting Classifications
 CA6154003 rs_58094037

3 SubmittersRCV000425087RCV001113836RCV002062515
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) SNV
Germline		 Chr11:68914941 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Conflicting Classifications
 CA6153406 rs_112495985

4 SubmittersRCV000442407RCV000703580
NM_002180.3(IGHMBP2):c.1236-6G>A SNV
Germline		 Chr11:68933293 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153582 rs_201538340

4 SubmittersRCV000550003RCV000856970RCV002058974RCV002365517
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=) SNV
Germline		 Chr11:68936619 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153844 rs_199879444

4 SubmittersRCV000871155RCV001698230RCV001109736RCV002429427
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) SNV
Germline		 Chr11:68939618 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6154047 rs_370985388

4 SubmittersRCV000488186RCV001173335RCV000811896RCV002438190
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) SNV
Germline		 Chr11:68906147 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified
Charcot-Marie-Tooth disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153203 rs_201692151

8 SubmittersRCV000489846RCV001083586RCV002222528RCV001173342RCV002404282
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val) SNV
Germline		 Chr11:68934529 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA6153713 rs_140221316

8 SubmittersRCV001081674RCV001172569RCV000733040RCV002404302RCV005407654
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) SNV
Germline		 Chr11:68929243 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA381647490 rs_1193634362

3 SubmittersRCV000498252RCV000856968RCV001244708
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) SNV
Germline		 Chr11:68933899 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA6153673 rs_754465226

7 SubmittersRCV000498809RCV000856971RCV000664228RCV001068853RCV002248737
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) SNV
Germline		 Chr11:68936740 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153868 rs_200499838

3 SubmittersRCV000705696RCV000505881RCV002446986
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) SNV
Germline		 Chr11:68936506 Conflicting classifications of pathogenicity not specified
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153828 rs_149577588

5 SubmittersRCV000505990RCV001591156RCV000531881RCV001113753RCV002420281
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) SNV
Germline		 Chr11:68935335 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153736 rs_7122089

6 SubmittersRCV000517070RCV000766761RCV001112397RCV001088877RCV002404328
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) SNV
Germline		 Chr11:68936325 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153794 rs_370850999

5 SubmittersRCV000518138RCV000876373RCV001113751RCV001568852RCV002413398
NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg) SNV
Germline		 Chr11:68933340 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA381648752 rs_1555247218

2 SubmittersRCV000557849RCV005250073
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) SNV
Germline		 Chr11:68929186 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
IGHMBP2-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153513 rs_142062146

9 SubmittersRCV000727033RCV001174193RCV001087969RCV001109641RCV004553226RCV002413540
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) SNV
Germline		 Chr11:68908192 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
IGHMBP2-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153255 rs_35610053

7 SubmittersRCV000712267RCV001084898RCV004553227RCV002448709
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=) SNV
Germline		 Chr11:68934477 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153700 rs_150549628

6 SubmittersRCV000529802RCV001173580RCV001112396RCV001722485RCV002395397
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu) SNV
Germline		 Chr11:68914902 Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153397 rs_777575504

3 SubmittersRCV000541500RCV001783051RCV005431748
NM_002180.3(IGHMBP2):c.1756+4C>T SNV
Germline		 Chr11:68935426 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153754 rs_778913429

4 SubmittersRCV000548573RCV000611337RCV001509412RCV002413541
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) SNV
Germline		 Chr11:68936293 Pathogenic Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223412991 rs_991227431

5 SubmittersRCV000578618RCV000642633RCV000790272RCV000856975
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) SNV
Germline		 Chr11:68936848 Pathogenic Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153896 rs_773242930

5 SubmittersRCV000578974RCV000795152RCV002456274
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=) SNV
Germline		 Chr11:68938213 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153974 rs_374950193

4 SubmittersRCV000595184RCV001397063RCV002431746
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=) SNV
Germline		 Chr11:68933461 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153623 rs_147477786

4 SubmittersRCV000591965RCV001447445RCV002395524
NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=) SNV
Germline		 Chr11:68939617 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA475205128 rs_752024072

3 SubmittersRCV000593798RCV001495356RCV002438539
NM_002180.3(IGHMBP2):c.1236-6G>C SNV
Germline		 Chr11:68933293 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153583 rs_201538340

3 SubmittersRCV000601306RCV001401020RCV002377267
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) SNV
Germline		 Chr11:68939593 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified		 Criteria Provided
Conflicting Classifications
 CA6154038 rs_147918962

6 SubmittersRCV000728433RCV001113837RCV002438568RCV001089366RCV005407793
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr) SNV
Germline		 Chr11:68938238 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153980 rs_138607722

3 SubmittersRCV000612991RCV001224658RCV003133395
NM_002180.3(IGHMBP2):c.1632+4C>T SNV
Germline		 Chr11:68934562 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases
IGHMBP2-related disorder		 Criteria Provided
Conflicting Classifications
 CA6153719 rs_775832239

5 SubmittersRCV000811336RCV001509411RCV002404641RCV004547717
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) SNV
Germline		 Chr11:68908327 Pathogenic Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal dominant
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381643380 rs_1324667543

7 SubmittersRCV000623030RCV000789338RCV000806942RCV000760313
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) SNV
Germline		 Chr11:68914972 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA6153413 rs_564645287

5 SubmittersRCV000623646RCV000886775RCV001461687RCV001113652
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) SNV
Germline		 Chr11:68915015 Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223392614 rs_557416644

4 SubmittersRCV000625148RCV001700268RCV000789658RCV003767833
NM_002180.3(IGHMBP2):c.1235+894C>A SNV
Germline		 Chr11:68930251 Pathogenic/Likely pathogenic Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658797697 rs_1202430946

3 SubmittersRCV002225695RCV000626052RCV003767835
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) SNV
Germline		 Chr11:68935396 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Neuronopathy, distal hereditary motor, autosomal dominant
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA381651275 rs_1483165002

5 SubmittersRCV000626051RCV000789978RCV001860471RCV003133413RCV004025289
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) SNV
Germline		 Chr11:68929320 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Charcot-Marie-Tooth disease
not specified		 Criteria Provided
Conflicting Classifications
 CA6153542 rs_779654686

4 SubmittersRCV000642636RCV002461951RCV001027461RCV005418266
NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile) SNV
Germline		 Chr11:68938241 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153982 rs_199614709

3 SubmittersRCV000642632RCV002424452RCV001571013
NM_002180.3(IGHMBP2):c.449+1G>A SNV
Germline		 Chr11:68908338 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
IGHMBP2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381643402 rs_797044802

3 SubmittersRCV000642630RCV001336445RCV004740380
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His) SNV
Germline		 Chr11:68933337 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified		 Criteria Provided
Conflicting Classifications
 CA6153589 rs_769046350

2 SubmittersRCV000642637RCV004768499
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=) SNV
Germline		 Chr11:68936766 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153873 rs_149684358

3 SubmittersRCV000642645RCV001109738RCV002449020
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) SNV
Germline		 Chr11:68935374 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Distal spinal muscular atrophy
Charcot-Marie-Tooth disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223412133 rs_1000091588

5 SubmittersRCV000680011RCV001218953RCV000790274RCV000856973
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) SNV
Germline		 Chr11:68906163 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA381642415 rs_1057518943

5 SubmittersRCV000698226RCV001572867RCV002406605
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) SNV
Germline		 Chr11:68935359 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153741 rs_770111639

8 SubmittersRCV000705582RCV000768429RCV000790283RCV001090413RCV002397478
NM_002180.3(IGHMBP2):c.257-2A>G SNV
Germline		 Chr11:68908143 Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381642994 rs_1566424655

1 SubmittersRCV000704215
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) SNV
Germline		 Chr11:68914902 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153396 rs_777575504

5 SubmittersRCV000700554RCV002422564RCV005431894RCV003133554
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter) SNV
Germline		 Chr11:68914937 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381644438 rs_1566430156

2 SubmittersRCV000692478
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn) SNV
Germline		 Chr11:68908165 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153248 rs_200897747

4 SubmittersRCV000686666RCV000856962RCV001592864RCV004026242
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) SNV
Germline		 Chr11:68929278 Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Condition: not provided
Inborn genetic diseases
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153535 rs_759641927

7 SubmittersRCV000695581RCV000790271RCV001784325RCV003243261RCV003147534
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter) SNV
Germline		 Chr11:68933892 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381650252 rs_556292818

1 SubmittersRCV000696268
NM_002180.3(IGHMBP2):c.1633-2A>G SNV
Germline		 Chr11:68935297 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381650994 rs_1566445029

1 SubmittersRCV000695071
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter) SNV
Germline		 Chr11:68937055 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381654038 rs_1373247548

1 SubmittersRCV000685957
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) SNV
Germline		 Chr11:68933390 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified		 Criteria Provided
Conflicting Classifications
 CA6153604 rs_751549678

6 SubmittersRCV000754729RCV001173330RCV002533772RCV005407934
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) SNV
Germline		 Chr11:68933399 Pathogenic/Likely pathogenic Condition: not provided
Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153608 rs_372181708

6 SubmittersRCV000760424RCV000789344RCV000791593RCV000826144RCV003994106
NM_002180.3(IGHMBP2):c.1202A>G (p.His401Arg) SNV
Germline		 Chr11:68929324 Pathogenic Charcot-Marie-Tooth disease axonal type 2S No Assertion Criteria Provided
 CA381647789 rs_1566439723

1 SubmittersRCV000768428
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter) SNV
Germline		 Chr11:68906145 Pathogenic Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381642356 rs_1479493690

2 SubmittersRCV000790281RCV001221389
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) SNV
Germline		 Chr11:68908276 Pathogenic/Likely pathogenic Spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223385758 rs_972425138

5 SubmittersRCV001267649RCV001869221RCV000789337RCV001197171
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) SNV
Germline		 Chr11:68929266 Pathogenic/Likely pathogenic Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223405800 rs_776730737

4 SubmittersRCV000789645RCV001390624RCV005407961RCV002458408
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) SNV
Germline		 Chr11:68929305 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Conflicting Classifications
 CA381647714 rs_1347461335

4 SubmittersRCV002249491RCV002334461RCV000789351RCV005225147
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg) SNV
Germline		 Chr11:68933326 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified
Neuronopathy, distal hereditary motor, autosomal dominant
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153588 rs_749343954

4 SubmittersRCV000818850RCV004800585RCV000789969RCV005001111
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) SNV
Germline		 Chr11:68933336 Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Charcot-Marie-Tooth disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381648742 rs_1303837541

7 SubmittersRCV000853264RCV000806743RCV003489865RCV000789974
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro) SNV
Germline		 Chr11:68933397 Pathogenic/Likely pathogenic Distal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153606 rs_571142182

3 SubmittersRCV000790276RCV005432422RCV002290427
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His) SNV
Germline		 Chr11:68936297 Likely pathogenic Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381651614 rs_1240319744

2 SubmittersRCV000789679RCV001376977
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) SNV
Germline		 Chr11:68936389 Conflicting classifications of pathogenicity Distal spinal muscular atrophy
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Conflicting Classifications
 CA6153801 rs_201563456

4 SubmittersRCV000790286RCV001262002RCV001306272
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) SNV
Germline		 Chr11:68936842 Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor, autosomal dominant
Charcot-Marie-Tooth disease
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6153891 rs_199839840

11 SubmittersRCV000789336RCV000856977RCV000985181RCV001310976RCV001869220RCV002252236
NM_002180.3(IGHMBP2):c.711+1G>C SNV
Germline		 Chr11:68911604 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Neuronopathy, distal hereditary motor, autosomal dominant		 Criteria Provided
Single Submitter
 CA6153360 rs_774079947

2 SubmittersRCV001390623RCV000789346
NM_002180.3(IGHMBP2):c.1060+1G>T SNV
Germline		 Chr11:68917884 Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Distal spinal muscular atrophy		 Criteria Provided
Single Submitter
 CA381645048 rs_1366461184

2 SubmittersRCV001869234RCV000790268
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser) SNV
Germline		 Chr11:68938283 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
Charcot-Marie-Tooth disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153989 rs_772387164

4 SubmittersRCV000791944RCV002440624RCV000856980RCV005225151
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln) SNV
Germline		 Chr11:68939709 Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, autosomal dominant
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA6154070 rs_199863781

4 SubmittersRCV000856984RCV001869314RCV002434054RCV004768718
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) SNV
Germline		 Chr11:68939630 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6154054 rs_145631247

4 SubmittersRCV000873605RCV001109811RCV001552498
NM_002180.3(IGHMBP2):c.1236-5C>T SNV
Germline		 Chr11:68933294 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153584 rs_191443556

2 SubmittersRCV000910771RCV002363361
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter) SNV
Germline		 Chr11:68906198 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381642538 rs_755468547

1 SubmittersRCV001038862
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr) SNV
Germline		 Chr11:68929252 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified		 Criteria Provided
Conflicting Classifications
 CA6153529 rs_760811074

2 SubmittersRCV001053692RCV005432549
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp) SNV
Germline		 Chr11:68933369 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153600 rs_138327042

4 SubmittersRCV001062368RCV002379584RCV005408667RCV001760027
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His) SNV
Germline		 Chr11:68933391 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1
not specified		 Criteria Provided
Conflicting Classifications
 CA6153605 rs_757304363

3 SubmittersRCV001071082RCV004597557RCV005408680
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg) SNV
Germline		 Chr11:68933865 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153665 rs_764111837

2 SubmittersRCV001037478RCV004720044
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) SNV
Germline		 Chr11:68908191 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA475186229 rs_1281690554

2 SubmittersRCV001111835RCV003769126
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=) SNV
Germline		 Chr11:68908239 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA475186416 rs_1858280736

2 SubmittersRCV001111837RCV005225236
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) SNV
Germline		 Chr11:68938237 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA6153979 rs_770556515

2 SubmittersRCV001112495RCV001441798
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg) SNV
Germline		 Chr11:68936620 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153845 rs_146266992

4 SubmittersRCV001222997RCV001586067RCV002429946
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu) SNV
Germline		 Chr11:68937088 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153947 rs_374632016

2 SubmittersRCV001210517RCV002561736
NM_002180.3(IGHMBP2):c.2611+1G>A SNV
Germline		 Chr11:68937092 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381654181 rs_786205090

1 SubmittersRCV001227492
NM_002180.3(IGHMBP2):c.1236-1G>T SNV
Germline		 Chr11:68933298 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381648529 rs_1124336

1 SubmittersRCV001243549
NM_002180.3(IGHMBP2):c.1537+5G>A SNV
Germline		 Chr11:68933918 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA2499221266 rs_1859419489

2 SubmittersRCV001332101RCV003992498
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg) SNV
Germline		 Chr11:68935396 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381651276 rs_1483165002

2 SubmittersRCV001377632RCV005432696
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter) SNV
Germline		 Chr11:68908261 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA223385710 rs_1015531394

1 SubmittersRCV001389576
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser) SNV
Germline		 Chr11:68933859 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153660 rs_201964221

2 SubmittersRCV001459522RCV003130522
NM_002180.3(IGHMBP2):c.1061-2A>G SNV
Germline		 Chr11:68929181 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381647367 rs_1424522130

2 SubmittersRCV001530179RCV003771640
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met) SNV
Germline		 Chr11:68933808 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Conflicting Classifications
 CA381649657 rs_2154008642

2 SubmittersRCV001568209RCV003771731
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro) SNV
Germline		 Chr11:68933839 Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381649855 rs_2154008646

1 SubmittersRCV001837045
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val) SNV
Germline		 Chr11:68936918 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153910 rs_779854653

4 SubmittersRCV002048122RCV003134345RCV005585076
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys) SNV
Germline		 Chr11:68929248 Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381647502 rs_1178427226

2 SubmittersRCV001968794RCV003147716
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter) SNV
Germline		 Chr11:68906193 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
IGHMBP2-related disorder		 Criteria Provided
Single Submitter
 CA6153214 rs_773543257

2 SubmittersRCV002035238RCV004741165
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala) SNV
Germline		 Chr11:68933853 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381649945 rs_2154008651

1 SubmittersRCV001929258
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys) SNV
Germline		 Chr11:68914901 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
not specified		 Criteria Provided
Conflicting Classifications
 CA6153395 rs_139497493

2 SubmittersRCV001972476RCV003331249
NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=) SNV
Germline		 Chr11:68933795 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153642 rs_750407517

2 SubmittersRCV001950425RCV002388903
NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp) SNV
Germline		 Chr11:68917775 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6153461 rs_768231851

2 SubmittersRCV002170677RCV002372847
NM_002180.3(IGHMBP2):c.1235+7C>T SNV
Germline		 Chr11:68929364 Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6153550 rs_776813722

2 SubmittersRCV002160197RCV002222272
NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn) SNV
Germline		 Chr11:68911552 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA381643934 rs_863224881

2 SubmittersRCV002715363RCV004823054
NM_002180.3(IGHMBP2):c.1235+1G>T SNV
Germline		 Chr11:68929358 Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381647971 rs_2496034758

1 SubmittersRCV002711010
NM_002180.3(IGHMBP2):c.2599A>T (p.Lys867Ter) SNV
Unknown		 Chr11:68937079 Pathogenic Charcot-Marie-Tooth disease axonal type 2S Criteria Provided
Single Submitter
 CA381654132 rs_753639706

1 SubmittersRCV003152883
NM_002180.3(IGHMBP2):c.1632+1G>T SNV
Germline		 Chr11:68934559 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381650989 rs_2496062221

1 SubmittersRCV003781884
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter) SNV
Germline		 Chr11:68911478 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA6153335 rs_564145037

1 SubmittersRCV003789520
NM_002180.3(IGHMBP2):c.449+2T>A SNV
Germline		 Chr11:68908339 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381643404 rs_2495950864

1 SubmittersRCV003790012
NM_002180.3(IGHMBP2):c.711+1G>A SNV
Germline		 Chr11:68911604 Pathogenic Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S		 Criteria Provided
Single Submitter
 CA381644060 rs_774079947

1 SubmittersRCV003782585
NM_002180.3(IGHMBP2):c.86+1G>T SNV
Germline		 Chr11:68904039 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA223381919 rs_1012702109

1 SubmittersRCV003785161
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu) SNV
Germline		 Chr11:68906164 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381642417 rs_1858185076

1 SubmittersRCV003793983
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter) SNV
Germline		 Chr11:68939576 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381654833 rs_1859672389

1 SubmittersRCV003806758
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter) SNV
Germline		 Chr11:68937047 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381654017 rs_2154008953

1 SubmittersRCV003801590
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter) SNV
Germline		 Chr11:68911580 Pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381644006 rs_1555243325

1 SubmittersRCV003800684
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro) SNV
Germline		 Chr11:68911530 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter
 CA381643873 rs_137852666

1 SubmittersRCV003810076
NM_002180.3(IGHMBP2):c.541G>T (p.Glu181Ter) SNV
Germline		 Chr11:68908625 Pathogenic Charcot-Marie-Tooth disease axonal type 2S Criteria Provided
Single Submitter

1 SubmittersRCV004689568
NM_002180.3(IGHMBP2):c.1235+2T>C SNV
Germline		 Chr11:68929359 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005004653
NM_002180.3(IGHMBP2):c.2098A>T (p.Lys700Ter) SNV
Germline		 Chr11:68936578 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005004655
NM_002180.3(IGHMBP2):c.2533C>T (p.Gln845Ter) SNV
Germline		 Chr11:68937013 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005006669
NM_002180.3(IGHMBP2):c.1757-1G>A SNV
Germline		 Chr11:68936236 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005211502
NM_002180.3(IGHMBP2):c.1351T>C (p.Trp451Arg) SNV
Germline		 Chr11:68933414 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005219581
NM_002180.3(IGHMBP2):c.1694A>G (p.Asp565Gly) SNV
Germline		 Chr11:68935360 Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S
Autosomal recessive distal spinal muscular atrophy 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005211862