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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRD5A2
(R227Q)
Single nucleotide variant
(missense variant)
SRD5A2-related disorder
+2 more
GPathogenic/Likely pathogenic
ANOS1
(C172Y)
Single nucleotide variant
(missense variant)
ANOS1-related disorder
+1 more
GConflicting classifications of pathogenicity