ClinVar Miner

Variants from Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine

Location: France  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
63 0 0 0 0 63

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic total
SNORD118, TMEM107 40 40
IFIH1 19 19
ALOX12B, SNORD118 3 3
LOC130060223, SNORD118, TMEM107 1 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic total
Leukoencephalopathy with calcifications and cysts 44 44
Aicardi-Goutieres syndrome 7 19 19

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