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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD7
(L1463P)
Single nucleotide variant
(missense variant +1 more)
Pure gonadal dysgenesis 46,XY
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic