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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP17A1
(P409R)
Single nucleotide variant
(missense variant)
Deficiency of steroid 17-alpha-monooxygenase
+1 more
GPathogenic
CYP17A1, CYP17A1-AS1
(R239Q)
Single nucleotide variant
(missense variant)
Deficiency of steroid 17-alpha-monooxygenase
GLikely pathogenic
CYP17A1
(S117C)
Single nucleotide variant
(missense variant)
Deficiency of steroid 17-alpha-monooxygenase
GUncertain significance
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