Variants from ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel

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
263	154	105	17	33	572

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GAA	189	106	66	9	15	385
IDUA	58	43	33	8	13	155
IDUA, SLC26A1	15	5	6	0	5	31
CCDC40, GAA	1	0	0	0	0	1

Condition and significance breakdown #

Total conditions: 2

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Glycogen storage disease, type II	190	106	66	9	15	386
Mucopolysaccharidosis type 1	73	48	39	8	18	186

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