Variants from PXE International

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)

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
74	114	143	7	32	370

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ABCC6	73	113	140	7	32	365
ABCC6, LOC125146421	0	1	3	0	0	4
ABCC1, ABCC6, CEP20, LOC112340382, LOC121587532, LOC125146420, LOC125146421, LOC126862300, MYH11	1	0	0	0	0	1

Condition and significance breakdown #

Total conditions: 1

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Autosomal recessive inherited pseudoxanthoma elasticum	74	114	143	7	32	370

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