ClinVar Miner

Variants from Inherited Neuropathy Consortium Ii, University Of Miami

Location: United States  Primary collection method: literature only
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
17 0 778 0 0 793

Gene and significance breakdown #

Total genes and gene combinations: 35
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance total
ATP7A 0 223 223
GJB1 7 88 95
GDAP1 0 66 66
GAN 3 53 56
FIG4 1 42 43
BSCL2, HNRNPUL2-BSCL2 0 34 34
DNM2 0 32 32
DYNC1H1 0 29 29
ATL1 0 27 27
DCTN1 0 27 27
GARS1 0 24 24
FBLN5 0 19 19
EGR2 1 17 17
FGD4 0 17 17
DNMT1 0 15 15
GAN, LOC130059498 0 10 10
BICD2 0 8 8
ATP1A1 1 7 7
AARS1 0 6 6
GDAP1, LOC130000622 0 6 6
AIFM1, RAB33A 0 4 4
DHTKD1 0 4 4
DST 0 4 4
RETREG1 0 4 4
DNAJB2 0 3 3
SETX 0 3 3
FBXO38 1 1 2
ARHGEF10 0 1 1
ATL3, LNCROPM 0 1 1
DYNC1H1, LOC126862060 0 1 1
DYNC1H1, LOC130056502 0 1 1
LOC129993734, RETREG1 0 1 1
MFN2 1 0 1
PDK3 1 0 1
SH3TC2 1 0 1

Condition and significance breakdown #

Total conditions: 44
Download table as spreadsheet
Condition pathogenic uncertain significance total
Menkes kinky-hair syndrome 0 211 211
Charcot-Marie-Tooth disease X-linked dominant 1 7 88 95
Giant axonal neuropathy 1 3 63 66
Charcot-Marie-Tooth disease axonal type 2K 0 47 47
Berardinelli-Seip congenital lipodystrophy 0 34 34
Charcot-Marie-Tooth disease dominant intermediate B 0 32 32
Charcot-Marie-Tooth disease axonal type 2O 0 31 31
Hereditary spastic paraplegia 3A 0 29 29
Perry syndrome 0 27 27
Charcot-Marie-Tooth disease type 4J 0 25 25
Charcot-Marie-Tooth disease type 4A 0 20 20
Charcot-Marie-Tooth disease type 2D 0 18 18
Charcot-Marie-Tooth disease type 4H 0 17 17
Charcot-Marie-Tooth disease type 1D 0 15 15
Hereditary sensory neuropathy-deafness-dementia syndrome 0 15 15
Charcot-Marie-Tooth disease type 2A2 1 11 12
Cutis laxa, X-linked 0 12 12
Age-related macular degeneration 0 10 10
Amyotrophic lateral sclerosis 0 10 10
Charcot-Marie-Tooth disease axonal type 2N 0 7 7
Cutis laxa, autosomal dominant 0 7 7
Neuronopathy, distal hereditary motor, type 5 0 6 6
Yunis-Varon syndrome 0 6 6
Hereditary sensory and autonomic neuropathy type 2 0 5 5
Autosomal dominant Charcot-Marie-Tooth disease type 2K 0 4 4
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 4 4
Charcot-Marie-Tooth disease X-linked recessive 4 0 4 4
Hereditary sensory and autonomic neuropathy type 6 0 4 4
Amyotrophic lateral sclerosis type 4 0 3 3
Autosomal recessive distal spinal muscular atrophy 2 0 3 3
Dejerine-Sottas disease 0 2 2
Hereditary sensorimotor neuropathy with hyperelastic skin 0 2 2
Amyotrophic lateral sclerosis type 11 1 0 1
Autosomal dominant hereditary axonal motor and sensory neuropathy 0 1 1
Autosomal dominant slowed nerve conduction velocity 0 1 1
Bilateral parasagittal parieto-occipital polymicrogyria 0 1 1
Charcot-Marie-Tooth disease X-linked dominant 6 1 0 1
Charcot-Marie-Tooth disease recessive intermediate A 0 1 1
Charcot-Marie-Tooth disease type 4C 1 0 1
Charcot-Marie-tooth disease, axonal, type 2DD 1 0 1
Distal hereditary motor neuropathy type 2 0 1 1
ERG2-related disorder 1 0 1
Neuronopathy, distal hereditary motor, type 2D 1 0 1
Neuronopathy, distal hereditary motor, type 5B 0 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.