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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACYP1, NPC2
(V148I)
Single nucleotide variant
(missense variant +2 more)
NPC2-related condition
+4 more
GConflicting classifications of pathogenicity
NPC2, ACYP1
(V30M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign