ClinVar Miner

Variants from Marseille Medical Genetics, U1251,Aix Marseille University, Inserm

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
5 1 0 0 0 6

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic total
WDR66 3 0 3
VRK1 2 0 2
EXT2 0 1 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic total
Distal hereditary motor neuropathy associated with upper motor neuron signs 2 0 2
Non-syndromic male infertility due to sperm motility disorder; Male infertility with teratozoospermia due to single gene mutation 2 0 2
Seizures, scoliosis, and macrocephaly syndrome 0 1 1
multiple morphologic abnormalities of the sperm flagellum; asthenozoospermia; dysplasia of the mitochondrial sheath 1 0 1

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