ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease

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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 total
136 84 1883 837 322 3196

Gene and significance breakdown #

Total genes and gene combinations: 84
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB1 12 6 340 8 1 359
MFN2 7 5 174 36 11 227
PRX 8 5 120 62 16 210
SH3TC2 12 6 123 54 14 203
MPZ 20 9 164 7 2 194
DYNC1H1 1 2 31 109 45 187
IGHMBP2 8 3 74 50 29 159
KIF1B 1 1 49 44 30 124
TRPV4 5 2 48 47 23 124
FIG4 3 0 40 37 15 94
SBF2 0 1 41 42 10 94
GDAP1 7 4 62 13 5 88
PMP22 6 7 62 9 2 84
LRSAM1 3 6 31 27 11 77
GARS1 2 1 26 29 13 70
MED25 1 1 19 39 11 70
LMNA 7 3 24 27 9 69
MARS1 2 0 28 25 8 62
NEFL 5 4 33 17 3 61
NDRG1 1 0 20 25 5 51
MTMR2 0 0 25 17 8 50
FGD4 0 0 21 16 12 49
HSPB1 8 1 29 13 2 49
SPTLC1 2 0 20 9 7 37
AARS1 2 0 31 0 0 32
LITAF 2 2 22 5 4 32
EGR2 0 0 16 14 1 30
NTRK1 0 0 29 1 0 30
TTR 4 2 7 10 5 28
DNAJB2 2 0 7 14 3 24
LOC101928008, SBF2 0 0 7 8 6 21
AIFM1, RAB33A 0 0 4 9 6 19
INF2 0 0 17 0 0 17
SEPTIN9 0 0 17 0 0 17
RAB7A 0 0 7 6 2 15
PDK3 0 0 4 5 1 10
DNM2 0 2 7 0 0 9
MORC2 0 0 9 0 0 9
SCN11A 0 0 8 0 0 8
SETX 0 0 8 0 0 8
SLC12A6 0 0 8 0 0 8
HSPB8 3 0 4 0 0 6
GAN 0 0 5 0 0 5
WNK1 0 0 5 0 0 5
ARHGEF10 0 1 3 0 0 4
DCTN1 0 1 3 0 0 4
DNMT1 0 0 4 0 0 4
HINT1 0 0 4 0 0 4
RETREG1 0 0 4 0 0 4
ELP1 0 0 3 0 0 3
NGF 0 0 3 0 0 3
REEP1 0 0 3 0 0 3
ARF1 0 0 2 0 0 2
ATL1 0 0 2 0 0 2
ATP7A 0 0 2 0 0 2
BICD2 0 0 2 0 0 2
BSCL2, HNRNPUL2-BSCL2 0 1 1 0 0 2
DST 0 1 1 0 0 2
KARS1 0 0 2 0 0 2
MIR6841, NEFL 0 0 0 1 1 2
PLD3, PRX 0 1 2 0 1 2
POLR2F, SOX10 0 0 2 0 0 2
SCN1A, SCN9A 0 0 2 0 0 2
YARS1 0 0 2 0 0 2
BAG3 0 1 0 0 0 1
CNTNAP2 0 0 1 0 0 1
CTDP1 1 0 0 0 0 1
DCTN2 0 0 1 0 0 1
FBXO38 0 1 0 0 0 1
HADHB 0 0 1 0 0 1
IFRD1 0 0 1 0 0 1
LAMA2 0 1 0 0 0 1
LOC101929524, RETREG1 0 0 1 0 0 1
LOC112872299, RAB7A 0 0 0 1 0 1
MED25, MIR6800 0 0 0 1 0 1
MT-ATP6 1 0 0 0 0 1
MYH14 0 0 1 0 0 1
POLG 0 0 1 0 0 1
SBF1 0 1 1 0 0 1
SEMA5A 0 0 1 0 0 1
SLC25A46 0 1 0 0 0 1
SLC5A7 0 0 1 0 0 1
SPTLC2 0 0 1 0 0 1
TFG 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Molecular Genetics Laboratory,London Health Sciences Centre 61 57 642 833 320 1913
Inherited Neuropathy Consortium 45 18 1050 4 1 1118
Genesis Genome Database 0 0 207 0 0 207
GeneReviews 34 0 0 0 0 34
Dept. of Medical Genetics, Telemark Hospital Trust 4 6 17 0 1 27
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 1 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 1
Department of Human Genetics, University Hospital Magdeburg 0 1 0 0 0 1

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