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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANOS1
(Q635P)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic/Likely pathogenic
ANOS1
(C49R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
(L12fs)
Insertion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
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