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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP17A1
(H373N)
Single nucleotide variant
(missense variant)
Deficiency of steroid 17-alpha-monooxygenase
+1 more
GPathogenic/Likely pathogenic
CYP17A1
(R347C)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia
+3 more
GPathogenic/Likely pathogenic