ClinVar Miner

Variants from Molecular Genetics Laboratory, London Health Sciences Centre

Location: Canada  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
62 57 642 834 320 1915

Gene and significance breakdown #

Total genes and gene combinations: 51
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PRX 3 3 80 62 16 164
DYNC1H1 0 0 12 105 44 161
SH3TC2 5 5 73 54 14 151
IGHMBP2 1 3 40 45 27 116
TRPV4 3 2 38 47 23 113
KIF1B 0 0 32 41 30 103
MFN2 5 3 30 33 11 82
FIG4 2 0 17 37 15 71
MED25 0 1 19 39 11 70
LRSAM1 2 6 22 27 11 68
SBF2 0 1 29 30 8 68
MARS1 0 0 28 25 8 61
LMNA 2 2 19 26 7 56
GARS1 0 0 6 28 12 46
MPZ 7 9 20 7 1 44
NEFL 5 3 16 15 3 42
NDRG1 1 0 17 20 3 41
MTMR2 0 0 12 17 8 37
FGD4 0 0 7 16 12 35
HSPB1 5 1 13 13 2 34
SPTLC1 2 0 14 9 7 32
PMP22 3 7 8 9 2 29
TTR 5 2 7 10 5 29
AARS1 1 0 23 0 0 24
GDAP1 2 1 6 9 4 22
DNAJB2 0 0 4 14 3 21
GJB1 4 4 4 8 1 21
LOC101928008, SBF2 0 0 7 8 6 21
LITAF 2 0 9 5 4 20
EGR2 0 0 4 14 1 19
LOC105369149, SBF2 0 0 5 12 2 19
AIFM1, RAB33A 0 0 4 8 6 18
PDK3 0 0 4 5 1 10
IGHMBP2, LOC126861245 0 0 2 5 2 9
LOC126860531, NDRG1 0 0 2 5 2 9
RAB7A 0 0 1 6 2 9
GDAP1, LOC130000622 0 1 2 4 1 8
LOC130064454, PRX 2 2 2 0 0 6
DYNC1H1, LOC126862060 0 0 0 4 1 5
KIF1B, LOC126805614 0 0 2 2 0 4
LOC126860330, NEFL 0 0 1 2 0 3
KIF1B, LOC129388446 0 0 1 1 0 2
LMNA, LOC126805877 0 0 0 1 1 2
MIR6841, NEFL 0 0 0 1 1 2
PLD3, PRX 0 1 0 0 1 2
AIFM1, LOC130068679, RAB33A 0 0 0 1 0 1
KMT2D 0 0 0 1 0 1
LMNA, LOC129931597 0 0 0 0 1 1
LOC112872299, RAB7A 0 0 0 1 0 1
LOC129929426, MFN2 0 0 0 1 0 1
MED25, MIR6800 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 2
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease 62 57 642 833 320 1914
Kabuki syndrome 1 0 0 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.