ClinVar Miner

Variants from Inherited Neuropathy Consortium

Location: United States  Primary collection method: literature only
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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
48 28 1269 10 17 1371

Gene and significance breakdown #

Total genes and gene combinations: 81
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB1 7 1 341 1 3 352
MPZ 11 2 157 0 1 171
MFN2 3 3 128 2 0 136
IGHMBP2 0 1 79 0 2 82
PMP22 3 0 73 0 0 76
GDAP1 3 2 48 0 0 53
SH3TC2 7 3 38 0 0 48
GAN 0 0 43 1 1 45
NTRK1 0 0 32 1 0 33
PRX 2 0 27 0 1 30
GARS1 2 1 16 1 0 20
HSPB1 2 0 16 0 0 18
NEFL 0 1 9 3 5 18
INF2 0 0 17 0 0 17
DYNC1H1 0 1 13 1 0 15
FIG4 1 0 14 0 0 15
MTMR2 0 0 12 0 3 15
FGD4 0 0 14 0 0 14
TRPV4 0 1 12 0 0 13
EGR2 0 0 11 0 0 11
LITAF 0 2 9 0 0 11
SETX 0 0 10 0 0 10
GAN, LOC130059498 0 0 9 0 0 9
DNM2 0 1 7 0 0 8
SCN11A 0 0 8 0 0 8
BICD2 3 0 3 0 1 7
SLC12A6 0 0 7 0 0 7
DCTN1 0 2 4 0 0 6
LMNA 0 0 6 0 0 6
SBF2 0 0 6 0 0 6
SPTLC1 0 0 6 0 0 6
GDAP1, LOC130000622 2 0 3 0 0 5
RAB7A 0 0 5 0 0 5
WNK1 0 0 5 0 0 5
DNMT1 0 0 4 0 0 4
HINT1 0 0 4 0 0 4
LOC130064454, PRX 1 0 3 0 0 4
LRSAM1 0 0 4 0 0 4
RETREG1 0 0 4 0 0 4
AARS1 0 0 3 0 0 3
DNAJB2 0 0 3 0 0 3
DST 0 1 2 0 0 3
ELP1 0 0 3 0 0 3
IGHMBP2, LOC126861245 0 0 3 0 0 3
NGF 0 0 3 0 0 3
REEP1 0 0 3 0 0 3
ARF1, LOC126806039 0 0 2 0 0 2
ARHGEF10 0 0 2 0 0 2
ATL1 0 0 2 0 0 2
ATP7A 0 0 2 0 0 2
BSCL2, HNRNPUL2-BSCL2 0 1 1 0 0 2
HSPB8 0 0 2 0 0 2
KARS1 0 0 2 0 0 2
PLEKHG5 0 1 1 0 0 2
POLG, POLGARF 0 0 2 0 0 2
POLR2F, SOX10 0 0 2 0 0 2
SCN1A, SCN9A 0 0 2 0 0 2
SLC25A46 0 2 0 0 0 2
VRK1 0 0 2 0 0 2
YARS1 0 0 2 0 0 2
AIFM1, RAB33A 0 0 1 0 0 1
ATL3 0 0 1 0 0 1
CTDP1 1 0 0 0 0 1
FBXO38 0 1 0 0 0 1
HADHB 0 0 1 0 0 1
IFRD1 0 0 1 0 0 1
IGHMBP2, LOC130006272, LOC130006273 0 0 1 0 0 1
LMNA, LOC129931597 0 0 1 0 0 1
LOC105369149, SBF2 0 0 1 0 0 1
LOC129390683, SLC12A6 0 0 1 0 0 1
LOC129929426, MFN2 0 0 1 0 0 1
LOC129993734, RETREG1 0 0 1 0 0 1
MORC2 0 0 1 0 0 1
MPZ, SDHC 0 0 1 0 0 1
MT-ATP6 0 0 1 0 0 1
NDRG1 0 0 1 0 0 1
PLD3, PRX 0 0 1 0 0 1
SBF1 0 0 1 0 0 1
SLC5A7 0 0 1 0 0 1
SPTLC2 0 0 1 0 0 1
TFG 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease 45 18 1049 4 1 1117
Neuronopathy, distal hereditary motor, autosomal dominant 3 0 55 0 1 59
Giant axonal neuropathy 1 0 0 50 1 0 51
Distal spinal muscular atrophy 0 1 45 1 0 47
not specified 0 0 19 3 15 37
Dejerine-Sottas disease 0 0 34 0 0 34
Hereditary motor neuron disease 0 5 8 0 0 13
not provided 0 1 7 1 0 9
Hereditary liability to pressure palsies 0 0 6 0 0 6
Hereditary sensory and autonomic neuropathy 0 0 2 0 0 2
Hereditary spastic paraplegia 0 2 0 0 0 2
Charcot-Marie-Tooth disease X-linked recessive 4 0 0 1 0 0 1
Neuropathy, hereditary motor and sensory, type 6B 0 1 0 0 0 1

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