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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
12	1	0	0	0	13

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	total
MTX2	5	0	5
CFAP251	3	0	3
VRK1	2	0	2
YARS1	2	0	2
EXT2	0	1	1

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	likely pathogenic	total
Progeroid mandibuloacral dysplasia	4	0	4
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
recessive ARS-related multisystem disease	2	0	2
Micrognathia; Dental crowding; Abnormality of skin pigmentation; Abnormality of body height; Abnormal mandible morphology; Acroosteolysis of distal phalanges (feet); Progeroid facial appearance; Postnatal growth retardation; Facial shape deformation; Hypertensive disorder	1	0	1
Seizures-scoliosis-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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