Total 31 pathogenic variants reported for Charcot-Marie-Tooth disease type 4H 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter) SNV
Germline		 Chr12:32598566 Pathogenic Charcot-Marie-Tooth disease type 4H
Condition: not provided
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251667 rs_118203972

4 SubmittersRCV000001066RCV001311296RCV001851524
NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter) SNV
Germline		 Chr12:32625774 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H No Assertion Criteria Provided
 CA251669 rs_118203973

2 SubmittersRCV000001069
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr) SNV
Germline		 Chr12:32602217 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease		 No Assertion Criteria Provided
 CA339859 rs_63749871

4 SubmittersRCV000001070RCV000789103
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) SNV
Germline		 Chr12:32601410 Pathogenic Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Single Submitter
 CA339860 rs_118203974

4 SubmittersRCV000001071RCV001248027
NM_001370298.3(FGD4):c.2173-2A>G SNV
Germline		 Chr12:32633547 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease		 No Assertion Criteria Provided
 CA339862 rs_281865065

4 SubmittersRCV000001072RCV000789105
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) SNV
Germline		 Chr12:32602217 Pathogenic Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease		 Criteria Provided
Single Submitter
 CA343103 rs_63749871

5 SubmittersRCV000032001RCV000695680RCV000789104
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) SNV
Germline		 Chr12:32619725 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease
Inborn genetic diseases
FGD4-related disorder		 Criteria Provided
Conflicting Classifications
 CA334267 rs_138160928

11 SubmittersRCV000168099RCV000219132RCV000857634RCV001094112RCV001174096RCV002381537RCV003982919
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) SNV
Germline		 Chr12:32640381 Conflicting classifications of pathogenicity not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Inborn genetic diseases
FGD4-related disorder		 Criteria Provided
Conflicting Classifications
 CA346827 rs_61753359

14 SubmittersRCV000236955RCV000727143RCV001080120RCV001114409RCV002426801RCV003937521
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) SNV
Germline		 Chr12:32582122 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4H
Condition: not provided
Charcot-Marie-Tooth disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA338843 rs_139357821

11 SubmittersRCV000199755RCV000287175RCV000999867RCV001311295RCV001173488RCV002426945
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro) SNV
Germline		 Chr12:32582196 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6506617 rs_142609007

6 SubmittersRCV000233379RCV000558088RCV001112953RCV002450716
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp) SNV
Germline		 Chr12:32582346 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4H
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6506638 rs_201826412

9 SubmittersRCV000236369RCV001079406RCV001173484RCV001114309RCV002338766
NM_001370298.3(FGD4):c.1740C>A (p.Tyr580Ter) SNV
Germline		 Chr12:32611274 Pathogenic Condition: not provided
Charcot-Marie-Tooth disease type 4H		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603250 rs_886041200

2 SubmittersRCV000277726RCV003988839
NM_001370298.3(FGD4):c.167-61790C>T SNV
Germline		 Chr12:32502347 Conflicting classifications of pathogenicity Condition: not provided
Charcot-Marie-Tooth disease type 4H		 Criteria Provided
Conflicting Classifications
 CA10632555 rs_531501340

2 SubmittersRCV001718627RCV000304485
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr) SNV
Germline		 Chr12:32576322 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6506547 rs_199744649

4 SubmittersRCV000396677RCV000439988RCV001092390
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=) SNV
Germline		 Chr12:32602176 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA6506751 rs_773609461

3 SubmittersRCV000279341RCV001174100RCV001473634
NM_001370298.3(FGD4):c.1543+13T>C SNV
Germline		 Chr12:32608108 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA6506804 rs_762177862

2 SubmittersRCV000378611RCV002056289
NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser) SNV
Germline		 Chr12:32598531 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6506682 rs_147969494

4 SubmittersRCV000654264RCV001114310RCV002360663
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) SNV
Germline		 Chr12:32640327 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6507114 rs_140220443

6 SubmittersRCV000815703RCV001114408RCV001173483RCV002422824RCV003480862
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met) SNV
Germline		 Chr12:32582241 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6506619 rs_200732890

5 SubmittersRCV000864209RCV001114308RCV001174104RCV002345961RCV006440194
NM_001370298.3(FGD4):c.*2487C>A SNV
Germline		 Chr12:32643020 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA235249796 rs_188600194

3 SubmittersRCV001111215RCV002292606
NM_001370298.3(FGD4):c.2172+12T>G SNV
Germline		 Chr12:32625791 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4		 Criteria Provided
Conflicting Classifications
 CA604226261 rs_945554080

2 SubmittersRCV001114407RCV002069843
NM_001370298.3(FGD4):c.1404+5T>C SNV
Germline		 Chr12:32602322 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H		 Criteria Provided
Conflicting Classifications
 CA6506764 rs_373712001

2 SubmittersRCV001245374RCV003600406
NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter) SNV
Germline		 Chr12:32624429 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4H		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384365957 rs_2136932206

2 SubmittersRCV001985156RCV005397189