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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB, LOC129994126
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARSB, LOC129994126
(G61S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARSB, LOC129994126
Deletion
(inframe_deletion)
Mucopolysaccharidosis type 6
+2 more
GBenign/Likely benign
ARSB, LOC129994126
(L32del)
Microsatellite
(inframe_deletion)
Mucopolysaccharidosis type 6
+1 more
GUncertain significance
ARSB, LOC129994126
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
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