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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEMA3A
(R484W)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 16 with or without anosmia
+2 more
GConflicting classifications of pathogenicity
SEMA3A
(V435I)
Inversion
(missense variant)
not provided
+1 more
GLikely benign
SEMA3A
(R617Q)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 16 with or without anosmia
Grisk factor
SEMA3A
(V458I)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 16 with or without anosmia
Grisk factor
SEMA3A
(R197Q)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 16 with or without anosmia
Grisk factor
SEMA3A
(I334V)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 16 with or without anosmia
+2 more
GBenign/Likely benign
SEMA3A
Copy number loss
Hypogonadotropic hypogonadism 16 with or without anosmia
GPathogenic
SEMA3A
(N153S)
Single nucleotide variant
(missense variant)
SEMA3A-related disorder
+2 more
GConflicting classifications of pathogenicity
SEMA3A
(R733H)
Single nucleotide variant
(missense variant)
SEMA3A-related disorder
+2 more
GUncertain significance
SEMA3A
(T688A)
Single nucleotide variant
(missense variant)
SEMA3A-related disorder
+2 more
GUncertain significance
SEMA3A
(I400V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SEMA3A
(D538fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 16 with or without anosmia
Grisk factor
SEMA3A
(V435I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
LOC129998733, LOC129998734
+1 more
Deletion
Hypogonadotropic hypogonadism 16 with or without anosmia
Grisk factor
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