Total 49 pathogenic variants reported for Charcot-Marie-Tooth disease type 4J 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) SNV
Germline		 Chr6:109715133 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4J
Condition: not provided
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Inborn genetic diseases
FIG4-related disorder
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233088 rs_121908287

40 SubmittersRCV000001791RCV000143812RCV000416487RCV000476702RCV001095515RCV001270162RCV001535566RCV001330564RCV002362551RCV003952336RCV005394105
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) SNV
Germline		 Chr6:109735199 Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Condition: not provided
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis
FIG4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251931 rs_121908288

8 SubmittersRCV000001796RCV000001793RCV000235305RCV001046714RCV001095516RCV003944790
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) SNV
Germline		 Chr6:109743137 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4
Bilateral parasagittal parieto-occipital polymicrogyria		 Criteria Provided
Conflicting Classifications
 CA270673 rs_587777714

4 SubmittersRCV000144072RCV001857490RCV003447114
NM_014845.6(FIG4):c.290-2A>T SNV
Germline		 Chr6:109727107 Likely pathogenic Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease		 Criteria Provided
Single Submitter
 CA270675 rs_587777715

4 SubmittersRCV000144073RCV000789118
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) SNV
Germline		 Chr6:109760253 Pathogenic Charcot-Marie-Tooth disease type 4J
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
Condition: not provided
FIG4-related disorder
Yunis-Varon syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277617 rs_377357931

11 SubmittersRCV000201166RCV000623247RCV001235453RCV001090680RCV003897432RCV005623072
NM_014845.6(FIG4):c.2459+1G>A SNV
Germline		 Chr6:109792665 Pathogenic Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3956399 rs_747768373

7 SubmittersRCV000236022RCV000622554RCV001243544RCV001658078RCV003955389
NM_014845.6(FIG4):c.1584-8T>A SNV
Germline		 Chr6:109766721 Conflicting classifications of pathogenicity not specified
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Conflicting Classifications
 CA3956144 rs_199522051

9 SubmittersRCV000254421RCV000275273RCV000470402RCV000711651RCV001173270RCV001094996
NM_014845.6(FIG4):c.2097-10C>G SNV
Germline		 Chr6:109789584 Conflicting classifications of pathogenicity not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Malignant tumor of esophagus
Sarcoma		 Criteria Provided
Conflicting Classifications
 CA3956286 rs_142482745

12 SubmittersRCV000253875RCV000711652RCV001079241RCV001154907RCV001173268RCV001154908RCV005893937RCV005893938
NM_014845.6(FIG4):c.243A>G (p.Lys81=) SNV
Germline		 Chr6:109716522 Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4
FIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3955715 rs_200257799

3 SubmittersRCV000291963RCV000346970RCV001449133RCV004742397
NM_014845.6(FIG4):c.2547-11A>G SNV
Germline		 Chr6:109825077 Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA3956445 rs_745613994

2 SubmittersRCV000309055RCV000363623RCV002061302
NM_014845.6(FIG4):c.2547-5T>G SNV
Germline		 Chr6:109825083 Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Inborn genetic diseases
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA3956446 rs_200267243

10 SubmittersRCV000324185RCV000475395RCV000858660RCV001095001RCV001173264RCV002429318RCV005899028RCV005899027
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) SNV
Germline		 Chr6:109716541 Pathogenic Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3955720 rs_753207473

3 SubmittersRCV000987758RCV001729560RCV001861266
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) SNV
Germline		 Chr6:109727169 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3955749 rs_551339249

3 SubmittersRCV000288549RCV000343538RCV001095019RCV001545776
NM_014845.6(FIG4):c.1272-10C>G SNV
Germline		 Chr6:109762081 Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3956032 rs_201293291

4 SubmittersRCV000260196RCV000654276RCV001173514RCV001095131RCV004742398
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) SNV
Germline		 Chr6:109777034 Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3956195 rs_201744761

8 SubmittersRCV000381459RCV000545092RCV000604481RCV001173281RCV001094997RCV001706587RCV004619276
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) SNV
Germline		 Chr6:109825109 Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder
Hepatocellular carcinoma		 Criteria Provided
Conflicting Classifications
 CA3956457 rs_140055056

4 SubmittersRCV000280997RCV000317635RCV001095030RCV003902376RCV005899029
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) SNV
Germline		 Chr6:109791418 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA3956327 rs_181012139

3 SubmittersRCV000312621RCV000406778RCV002429317RCV002524462
NM_014845.6(FIG4):c.2547-4A>G SNV
Germline		 Chr6:109825084 Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA10625700 rs_886060985

2 SubmittersRCV000265862RCV000360172RCV001404072
NM_014845.6(FIG4):c.446+9G>A SNV
Germline		 Chr6:109727274 Conflicting classifications of pathogenicity not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease		 Criteria Provided
Conflicting Classifications
 CA3955766 rs_190287033

11 SubmittersRCV000418496RCV000710135RCV001086795RCV001153952RCV001153953RCV001173266
NM_014845.6(FIG4):c.33G>C (p.Ser11=) SNV
Germline		 Chr6:109691468 Conflicting classifications of pathogenicity not specified
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease
Inborn genetic diseases
FIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3955640 rs_527523781

6 SubmittersRCV000433196RCV001418759RCV001158140RCV001158141RCV001173276RCV002451035RCV003970216
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) SNV
Germline		 Chr6:109741502 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
not specified
Condition: not provided
Inborn genetic diseases
FIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3955919 rs_138048706

12 SubmittersRCV000462434RCV000662127RCV000662128RCV000662129RCV000662126RCV001662424RCV001573278RCV002411445RCV003970280
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) SNV
Germline		 Chr6:109738415 Pathogenic Condition: not provided
Amyotrophic lateral sclerosis type 11
Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618230 rs_776005417

8 SubmittersRCV000478168RCV000763552RCV001232367RCV002525832RCV003447141RCV003419795
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) SNV
Germline		 Chr6:109796772 Pathogenic/Likely pathogenic Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3956425 rs_745790694

9 SubmittersRCV000518350RCV000789755RCV000825523RCV001197829RCV001216587
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) SNV
Germline		 Chr6:109741461 Pathogenic Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3955913 rs_774294963

7 SubmittersRCV000579266RCV001043299RCV002420550RCV003989563
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) SNV
Germline		 Chr6:109735292 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Inborn genetic diseases
Condition: not provided
FIG4-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA3955852 rs_529048339

6 SubmittersRCV000654270RCV001154805RCV001154806RCV002360664RCV003488768RCV003918092RCV005000464
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter) SNV
Germline		 Chr6:109792591 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365217118 rs_1554309093

3 SubmittersRCV000687842RCV003144493RCV003447154
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter) SNV
Germline		 Chr6:109766820 Pathogenic Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Single Submitter
 CA3956155 rs_776090013

3 SubmittersRCV000789754RCV003447254RCV003581720
NM_014845.6(FIG4):c.877-2A>C SNV
Germline		 Chr6:109743108 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
FIG4-related disorder
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3955934 rs_143956557

6 SubmittersRCV000789756RCV001655597RCV001873222RCV002370062RCV003411740RCV003447255
NM_014845.6(FIG4):c.290-2A>G SNV
Germline		 Chr6:109727107 Pathogenic Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria		 Criteria Provided
Single Submitter
 CA365215649 rs_587777715

1 SubmittersRCV000790987RCV000790988RCV000790989
NM_014845.6(FIG4):c.1271+5A>G SNV
Germline		 Chr6:109760388 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Inborn genetic diseases
FIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3956024 rs_374583399

5 SubmittersRCV000821312RCV001158266RCV001158267RCV001173274RCV002372344RCV003908110
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) SNV
Germline		 Chr6:109738336 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Inborn genetic diseases
FIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3955878 rs_565096937

5 SubmittersRCV000860529RCV001154808RCV001154807RCV001172965RCV002372390RCV003892776
NM_014845.6(FIG4):c.1482C>T (p.Asn494=) SNV
Germline		 Chr6:109765060 Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA3956106 rs_776928002

2 SubmittersRCV001152790RCV001152791RCV001465252
NM_014845.6(FIG4):c.2547-1G>A SNV
Germline		 Chr6:109825087 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA3956449 rs_769858739

6 SubmittersRCV001207369RCV001508194RCV003363159RCV003447318RCV004743323
NM_014845.6(FIG4):c.446+2T>C SNV
Germline		 Chr6:109727267 Likely pathogenic Charcot-Marie-Tooth disease type 4J Criteria Provided
Single Submitter
 CA365217389 rs_1775850515

1 SubmittersRCV002290416
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter) SNV
Germline		 Chr6:109738451 Pathogenic/Likely pathogenic Condition: not provided
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365220776 rs_2486126897

2 SubmittersRCV003145690RCV003988088
NM_014845.6(FIG4):c.1389-2A>G SNV
Germline		 Chr6:109763935 Likely pathogenic Charcot-Marie-Tooth disease type 4J
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Yunis-Varon syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter

2 SubmittersRCV004797323RCV005935666
NM_014845.6(FIG4):c.1150A>T (p.Arg384Ter) SNV
Germline		 Chr6:109760262 Likely pathogenic Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Single Submitter

1 SubmittersRCV005400350
NM_014845.6(FIG4):c.1434+1G>T SNV
Germline		 Chr6:109763983 Likely pathogenic Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4J		 Criteria Provided
Single Submitter

1 SubmittersRCV005625075