ClinVar Miner

Variants from Northcott Neuroscience Laboratory, ANZAC Research Institute

Location: Australia — Primary collection method: not provided
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
8 7 0 5 17 37

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic likely benign benign total
SETX 1 1 2 4 8
NEFL 0 4 0 1 5
GJB1 4 0 0 0 4
AARS1 0 0 0 3 3
BICD2 0 0 2 1 3
KIF1B 0 2 0 1 3
BSCL2, HNRNPUL2-BSCL2 1 0 0 1 2
MFN2 2 0 0 0 2
TRPV4 0 0 1 1 2
DCTN1 0 0 0 1 1
FIG4 0 0 0 1 1
GDAP1 0 0 0 1 1
LRSAM1 0 0 0 1 1
YARS1 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic likely benign benign total
not provided 0 7 5 17 29
X-linked hereditary motor and sensory neuropathy 4 0 0 0 4
Charcot-Marie-Tooth disease, type 2A2A 2 0 0 0 2
Amyotrophic lateral sclerosis type 4 1 0 0 0 1
Distal hereditary motor neuronopathy type 5 1 0 0 0 1

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