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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP24A1
(L409S)
Single nucleotide variant
(missense variant)
Hypercalcemia, infantile, 1
+2 more
GConflicting classifications of pathogenicity
CYP24A1
(Y407N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP24A1
(P21fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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