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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLB1, LOC129936434
+1 more
(T21A)
Single nucleotide variant
(missense variant +1 more)
GM1 gangliosidosis
+3 more
GConflicting classifications of pathogenicity
GLB1, LOC129936434
+1 more
(V14L)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+2 more
GUncertain significance
GLB1, LOC129936434
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GBenign
GLB1, LOC129936434
+1 more
(P10L)
Single nucleotide variant
(missense variant +1 more)
Infantile GM1 gangliosidosis
+6 more
GBenign
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