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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD7
(I1028V)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism
+3 more
GPathogenic/Likely pathogenic
CHD7
(R2065H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity