Variants from Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

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
597	472	361	2	9	1441

Gene and significance breakdown #

Total genes and gene combinations: 22

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GALNS	65	99	227	0	3	394
IDS	230	144	6	0	0	380
IDS, LOC106050102	233	129	7	0	0	369
ARSB	25	54	67	1	3	150
ARSB, LOC129994126	6	20	22	0	2	50
GALNS, LOC130059762, TRAPPC2L	4	4	13	0	0	21
GALNS, LOC126862447	3	2	13	1	1	20
IDS, LOC130068781	19	0	0	0	0	19
SGSH	1	9	2	0	0	12
IDUA	1	5	1	0	0	7
NAGLU	0	2	3	0	0	5
APRT, CDT1, GALNS, LOC126862447, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, PIEZO1	1	1	0	0	0	2
GLB1	1	1	0	0	0	2
LOC130060903, NAGLU	0	2	0	0	0	2
APRT, GALNS, LOC126862447, LOC130059760	1	0	0	0	0	1
ARSB, LOC123497917, LOC129994124, LOC129994125	1	0	0	0	0	1
ARSB, LOC129994124, LOC129994125	1	0	0	0	0	1
CARD14, SGSH	1	0	0	0	0	1
GALNS, LOC126862447, LOC130059761, LOC130059762, LOC132090440, TRAPPC2L	1	0	0	0	0	1
GNS	1	0	0	0	0	1
HGSNAT	1	0	0	0	0	1
SGSH, SLC26A11	1	0	0	0	0	1

Condition and significance breakdown #

Total conditions: 9

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Mucopolysaccharidosis, MPS-II	482	273	13	0	0	768
Mucopolysaccharidosis, MPS-IV-A	75	106	253	1	4	439
Mucopolysaccharidosis type 6	33	74	89	1	5	202
Mucopolysaccharidosis, MPS-III-A	3	9	2	0	0	14
Mucopolysaccharidosis type 1	1	5	1	0	0	7
Mucopolysaccharidosis, MPS-III-B	0	4	3	0	0	7
Mucopolysaccharidosis, MPS-IV-B	1	1	0	0	0	2
Mucopolysaccharidosis, MPS-III-C	1	0	0	0	0	1
Mucopolysaccharidosis, MPS-III-D	1	0	0	0	0	1

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