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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRY
(A66P)
Single nucleotide variant
(missense variant)
46,XY disorder of sex development
GLikely pathogenic
NLGN4Y, PCDH11Y
+82 more
Copy number gain
Global developmental delay
GPathogenic
AMELY, FAM197Y9
+13 more
Copy number gain
46,XX sex reversal 1
GPathogenic
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