Total 21 pathogenic variants reported for Charcot-Marie-Tooth disease, type IA 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) SNV
Germline		 Chr17:15260681 Pathogenic Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Single Submitter
 CA340784 rs_104894617

3 SubmittersRCV000008940RCV000685070
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) SNV
Germline		 Chr17:15239554 Pathogenic Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Single Submitter
 CA254385 rs_104894618

2 SubmittersRCV000008941RCV002512923
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) SNV
Germline		 Chr17:15231047 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type 1a, autosomal recessive
Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease, type IA
not specified
Charcot-Marie-Tooth disease, type I
Condition: not provided
Charcot-Marie-Tooth disease
Tip-toe gait
6 conditions		 Criteria Provided
Conflicting Classifications
 CA119616 rs_104894619

22 SubmittersRCV000008945RCV000008946RCV000032119RCV000194789RCV000197572RCV000224441RCV001027473RCV001507314RCV005394144
NM_000304.4(PMP22):c.206T>A (p.Met69Lys) SNV
Germline		 Chr17:15239584 Pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Condition: not provided
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119618 rs_104894620

4 SubmittersRCV000008947RCV000494533RCV001380437RCV003338380
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) SNV
Germline		 Chr17:15239575 Pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Charcot-Marie-Tooth disease, type I
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease, type IA		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119620 rs_104894621

7 SubmittersRCV000008948RCV000456500RCV000489163RCV000622525RCV001729342
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) SNV
Germline		 Chr17:15239591 Conflicting classifications of pathogenicity Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Conflicting Classifications
 CA254388 rs_104894623

4 SubmittersRCV000008956RCV001173915RCV002288476RCV003581556
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) SNV
Germline		 Chr17:15260663 Pathogenic Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease, type IA		 No Assertion Criteria Provided
 CA254390 rs_104894625

2 SubmittersRCV000008958RCV000008959
NC_012920.1(MT-ATP6):m.9185T>C SNV
Germline		 ChrMT:9185 Pathogenic Leigh syndrome
Charcot-Marie-Tooth disease
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Condition: not provided
Mitochondrial disease
Leber optic atrophy
Mitochondrial DNA-Associated Leigh Syndrome and NARP
NARP syndrome
Charcot-Marie-Tooth disease, type IA		 Reviewed By Expert Panel
 CA340928 rs_199476138

16 SubmittersRCV000010282RCV000240612RCV000754648RCV001267926RCV000495689RCV001542709RCV002267606RCV004760325RCV003224857
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) SNV
Germline		 Chr17:15239555 Likely pathogenic Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA279110 rs_863225027

2 SubmittersRCV000201185RCV001206556
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) SNV
Germline		 Chr17:15230951 Pathogenic Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA398739500 rs_879253954

3 SubmittersRCV000499331RCV004819225RCV001857035
NM_000304.4(PMP22):c.431C>G (p.Pro144Arg) SNV
Germline		 Chr17:15230969 Likely pathogenic Condition: not provided
Charcot-Marie-Tooth disease, type IA		 Criteria Provided
Multiple Submitters
No Conflicts
 CA398739549 rs_1555564032

2 SubmittersRCV000516704RCV005411469
NM_000304.4(PMP22):c.206T>C (p.Met69Thr) SNV
Germline		 Chr17:15239584 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
Condition: not provided
Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type IA
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA288098399 rs_104894620

4 SubmittersRCV000638164RCV001731826RCV005409695RCV002420718
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) SNV
Germline		 Chr17:15230982 Likely pathogenic Condition: not provided
Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA398739583 rs_1555564040

4 SubmittersRCV002269313RCV003483723RCV000790173RCV001064771
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) SNV
Germline		 Chr17:15231008 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA398739650 rs_1597597627

5 SubmittersRCV000790165RCV001873226RCV003325975RCV005051828
NM_000304.4(PMP22):c.35A>G (p.His12Arg) SNV
Germline		 Chr17:15260693 Likely pathogenic Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA		 Criteria Provided
Single Submitter
 CA398271731 rs_1909248652

2 SubmittersRCV001036010RCV001548774
NM_000304.4(PMP22):c.68C>A (p.Thr23Lys) SNV
Germline		 Chr17:15260660 Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA		 Criteria Provided
Multiple Submitters
No Conflicts
 CA288109904 rs_906563423

2 SubmittersRCV002039305RCV005409841