ClinVar Miner

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

Location: Italy  Primary collection method: curation
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
117 205 351 2 9 684

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GALNS 65 99 227 0 3 394
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
SGSH 1 9 2 0 0 12
IDS 1 3 3 0 0 7
IDUA 1 5 1 0 0 7
NAGLU 0 2 3 0 0 5
IDS, LOC106050102 1 3 0 0 0 4
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-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, MPS-II 2 6 3 0 0 11
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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