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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALC, LOC130056217
Single nucleotide variant
(synonymous variant +1 more)
Galactosylceramide beta-galactosidase deficiency
+1 more
GPathogenic/Likely pathogenic
GALC, LOC130056217
(G57S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic