ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease

Coded as:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
117 90 1900 839 323 7 3209

Gene and significance breakdown #

Total genes and gene combinations: 109
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GJB1 17 6 353 10 4 0 377
MFN2 7 5 173 35 11 0 225
SH3TC2 12 7 121 55 14 0 203
PRX 6 3 115 62 16 0 200
MPZ 19 10 163 7 2 0 194
DYNC1H1 0 3 30 105 44 1 182
IGHMBP2 1 4 71 45 26 0 145
TRPV4 3 1 49 47 23 0 122
KIF1B 0 1 45 41 30 0 116
FIG4 3 1 39 37 15 0 94
PMP22 6 7 62 9 2 0 84
GDAP1 5 3 57 9 4 6 76
LRSAM1 2 6 31 27 11 0 76
SBF2 0 1 35 30 8 0 74
GARS1 2 1 26 29 13 0 70
MED25 0 0 20 39 11 0 70
MARS1 0 0 28 25 8 0 61
LMNA 2 3 22 25 7 0 58
NEFL 5 4 32 15 2 0 57
FGD4 0 0 21 16 12 0 49
MTMR2 0 0 24 17 8 0 49
HSPB1 8 2 28 13 1 0 48
NDRG1 1 0 18 20 3 0 42
SPTLC1 2 0 20 9 7 0 37
AARS1 1 0 32 0 0 0 33
LITAF 2 2 23 5 4 0 33
EGR2 0 0 16 14 1 0 30
NTRK1 0 0 29 1 0 0 30
TTR 5 2 7 10 5 0 29
DNAJB2 0 0 7 14 3 0 24
LOC101928008, SBF2 0 0 7 8 6 0 21
LOC105369149, SBF2 0 0 6 12 2 0 20
AIFM1, RAB33A 0 0 4 8 6 0 18
INF2 0 0 17 0 0 0 17
SEPTIN9 0 0 16 0 0 0 16
RAB7A 0 0 7 6 2 0 15
GDAP1, LOC130000622 2 1 5 4 1 0 13
DNM2 0 2 8 0 0 0 10
IGHMBP2, LOC126861245 0 0 3 5 2 0 10
LOC130064454, PRX 3 2 5 0 0 0 10
PDK3 0 0 4 5 1 0 10
LOC126860531, NDRG1 0 0 2 5 2 0 9
MORC2 0 0 9 0 0 0 9
SCN11A 0 0 8 0 0 0 8
SETX 0 0 8 0 0 0 8
SLC12A6 0 0 8 0 0 0 8
DYNC1H1, LOC126862060 0 0 1 4 1 0 6
WNK1 0 0 5 0 0 0 5
DCTN1 0 1 3 0 0 0 4
DNMT1 0 0 4 0 0 0 4
GAN 0 0 4 0 0 0 4
HINT1 0 0 4 0 0 0 4
HSPB8 0 0 4 0 0 0 4
KIF1B, LOC126805614 0 0 2 2 0 0 4
LOC126860330, NEFL 0 0 2 2 0 0 4
RETREG1 0 0 4 0 0 0 4
ARHGEF10 0 1 2 0 0 0 3
ELP1 0 0 3 0 0 0 3
NGF 0 0 3 0 0 0 3
REEP1 0 0 3 0 0 0 3
ARF1, LOC126806039 0 0 2 0 0 0 2
ATL1 0 0 2 0 0 0 2
ATP7A 0 0 2 0 0 0 2
BICD2 0 0 2 0 0 0 2
BSCL2, HNRNPUL2-BSCL2 0 1 1 0 0 0 2
DST 0 1 1 0 0 0 2
KARS1 0 0 2 0 0 0 2
KIF1B, LOC129388446 0 0 1 1 0 0 2
LMNA, LOC126805877 0 0 0 1 1 0 2
LMNA, LOC129931597 0 0 1 0 1 0 2
LOC129929426, MFN2 0 0 1 1 0 0 2
MIR6841, NEFL 0 0 0 1 1 0 2
PLD3, PRX 0 1 2 0 1 0 2
POLR2F, SOX10 0 0 2 0 0 0 2
SBF1 0 2 1 0 0 0 2
SCN1A, SCN9A 0 0 2 0 0 0 2
YARS1 0 0 2 0 0 0 2
AIFM1, LOC130068679, RAB33A 0 0 0 1 0 0 1
ARHGEF10, LOC126860281 0 0 1 0 0 0 1
CNTNAP2 0 0 1 0 0 0 1
CTDP1 1 0 0 0 0 0 1
DCTN2 0 0 1 0 0 0 1
DHX9 0 1 0 0 0 0 1
DRP2 0 0 0 0 1 0 1
FBXO38 0 1 0 0 0 0 1
GAN, LOC130059498 0 0 1 0 0 0 1
GNB4 0 0 1 0 0 0 1
HADHB 0 0 1 0 0 0 1
HARS1 0 0 1 0 0 0 1
IFRD1 0 0 1 0 0 0 1
KIF1B, LOC129388447 0 0 1 0 0 0 1
LAMA2 0 1 0 0 0 0 1
LOC112872299, RAB7A 0 0 0 1 0 0 1
LOC126862651, SEPTIN9 0 0 1 0 0 0 1
LOC129390683, SLC12A6 0 0 1 0 0 0 1
LOC129993734, RETREG1 0 0 1 0 0 0 1
MED25, MIR6800 0 0 0 1 0 0 1
MME 0 0 1 0 0 0 1
MPZ, SDHC 0 0 1 0 0 0 1
MT-ATP6 1 0 0 0 0 0 1
MYH14 0 0 1 0 0 0 1
NAGLU 1 0 0 0 0 0 1
POLG 0 0 1 0 0 0 1
SEMA5A 0 0 1 0 0 0 1
SLC25A46 0 1 0 0 0 0 1
SLC5A7 0 0 1 0 0 0 1
SPG11 0 1 0 0 0 0 1
SPTLC2 0 0 1 0 0 0 1
TFG 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Molecular Genetics Laboratory, London Health Sciences Centre 62 59 638 833 317 0 1909
Inherited Neuropathy Consortium 45 18 1049 4 1 0 1117
Genesis Genome Database 0 0 207 0 0 0 207
Natera, Inc. 5 0 18 5 3 0 31
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 4 6 17 0 1 0 27
Molecular Genetics, Royal Melbourne Hospital 0 1 6 0 1 0 8
GeneReviews 1 0 0 0 0 6 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 3 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Department of Human Genetics, University Hospital Magdeburg 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1

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