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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANOS1
Deletion
(splice acceptor variant +1 more)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(E514K)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(S396L)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
+2 more
GConflicting classifications of pathogenicity
ANOS1
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(S278fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(R262*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ANOS1
(W258*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(R257*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(W237*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(D36fs)
Duplication
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Deletion
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Deletion
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Deletion
(splice acceptor variant +1 more)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Deletion
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
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