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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP11A1
(E314K +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CYP11A1
(R232* +1 more)
Single nucleotide variant
(nonsense)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
+1 more
GPathogenic