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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLB1
(W527fs +3 more)
Duplication
(frameshift variant)
GM1 gangliosidosis
+5 more
GPathogenic
GLB1
(D448V +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+2 more
GConflicting classifications of pathogenicity
GLB1
(W273L +3 more)
Indel
(missense variant)
Mucopolysaccharidosis, MPS-IV-B
+2 more
GPathogenic/Likely pathogenic
GLB1
(L136del +3 more)
Deletion
(inframe_deletion)
GM1 gangliosidosis
+2 more
GConflicting classifications of pathogenicity
GLB1
(R59H +2 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+6 more
GPathogenic/Likely pathogenic
GLB1
(I51T +2 more)
Single nucleotide variant
(missense variant)
Infantile GM1 gangliosidosis
+4 more
GPathogenic
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