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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLB1
(D491N +3 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-B
+4 more
GConflicting classifications of pathogenicity
GLB1
(Y270D +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+6 more
GPathogenic/Likely pathogenic
GLB1
(G238D +2 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+2 more
GPathogenic/Likely pathogenic
GLB1
(R59H +2 more)
Single nucleotide variant
(missense variant)
GLB1-related disorder
+7 more
GPathogenic/Likely pathogenic
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