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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNRHR
(R139H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GNRHR
(Q106R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+5 more
GPathogenic/Likely pathogenic
GNRHR
(L48P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMA16, CXCL1
+537 more
Copy number gain
not provided
GPathogenic
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