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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP27A1
Single nucleotide variant
(synonymous variant)
CYP27A1-related condition
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(R405Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic