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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GConflicting classifications of pathogenicity
ANOS1
(S113R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ACE2, ACOT9
+94 more
Copy number gain
not provided
GPathogenic
ANOS1, ARSD
+18 more
Copy number loss
not provided
GPathogenic
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