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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP27B1
(N387T)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets, type 1
GLikely pathogenic
CYP27B1
(G208V)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets, type 1
GLikely pathogenic
CYP27B1
(A129V)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets, type 1
GLikely pathogenic
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