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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRD5A2
(R227Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SRD5A2
(A12E)
Single nucleotide variant
(missense variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely pathogenic
SRD5A2
(Q6*)
Single nucleotide variant
(nonsense)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
+2 more
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
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