Variants from University Children's Hospital, University of Zurich

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
108	0	1	0	0	109

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	uncertain significance	total
MTHFR	48	0	48
MMUT	41	0	41
MMAA	19	1	20

Condition and significance breakdown #

Total conditions: 3

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Condition	pathogenic	uncertain significance	total
Homocystinuria due to methylene tetrahydrofolate reductase deficiency	48	0	48
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	41	0	41
Methylmalonic aciduria, cblA type	19	1	20

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