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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP27B1
(F443fs)
Microsatellite
(frameshift variant)
Vitamin D-dependent rickets, type 1A
+2 more
GPathogenic
CYP27B1
(P112L)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets, type 1A
GLikely pathogenic