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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP17A1
(R440H)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia
+2 more
GPathogenic
CYP17A1
(P414L)
Single nucleotide variant
(missense variant)
Deficiency of steroid 17-alpha-monooxygenase
GLikely pathogenic
CYP17A1
(R96W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
CYP17A1
(F54del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
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