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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALC
(V681M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GALC
(L634S +2 more)
Single nucleotide variant
(missense variant)
Galactosylceramide beta-galactosidase deficiency
+1 more
GPathogenic/Likely pathogenic