ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
114 84 1896 839 325 7 3200

Gene and significance breakdown #

Total genes and gene combinations: 103
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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 6 123 54 14 0 203
PRX 5 3 115 62 16 0 200
MPZ 18 9 163 7 2 0 192
DYNC1H1 0 2 30 105 44 1 181
IGHMBP2 1 3 71 45 27 0 146
TRPV4 3 2 48 47 23 0 122
KIF1B 0 1 45 41 30 0 116
FIG4 3 0 40 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 1 19 39 11 0 70
MARS1 0 0 28 25 8 0 61
LMNA 2 3 23 26 7 0 60
NEFL 5 4 32 15 3 0 58
FGD4 0 0 21 16 12 0 49
HSPB1 8 1 29 13 2 0 49
MTMR2 0 0 24 17 8 0 49
NDRG1 1 0 18 20 3 0 42
SPTLC1 2 0 20 9 7 0 37
AARS1 1 0 31 0 0 0 32
LITAF 2 2 22 5 4 0 32
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
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
DNM2 0 2 7 0 0 0 9
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 7 0 0 0 7
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
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
FBXO38 0 1 0 0 0 0 1
GAN, LOC130059498 0 0 1 0 0 0 1
HADHB 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
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
POLG, POLGARF 0 0 1 0 0 0 1
SBF1 0 1 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
SPTLC2 0 0 1 0 0 0 1
TFG 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Molecular Genetics Laboratory, London Health Sciences Centre 62 57 642 833 320 0 1914
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
GeneReviews 1 0 0 0 0 6 7
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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & 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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