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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL14EP-DT, FSHB
(I28T)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
(R115Q)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARL14EP-DT, FSHB
(P82L)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
FSHB, ARL14EP-DT
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
(R115*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 24 without anosmia
GLikely pathogenic
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GLikely benign
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
FSHB, ARL14EP-DT
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GBenign
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GBenign
FSHB, ARL14EP-DT
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GBenign
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
(S109R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARL14EP-DT, FSHB
(S20I)
Single nucleotide variant
(missense variant)
FSHB-related condition
+2 more
GConflicting classifications of pathogenicity
ARL14EP-DT, FSHB
(F10L)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
FSHB, ARL14EP-DT
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
FSHB, ARL14EP-DT
Single nucleotide variant
(5 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ARL14EP-DT, FSHB
(C100R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GPathogenic
ARL14EP-DT, FSHB
Single nucleotide variant
Hypogonadotropic hypogonadism 24 without anosmia
Gassociation
ARL14EP-DT, FSHB
(Y94*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 24 without anosmia
GPathogenic
ARL14EP-DT, FSHB
(C69G)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GPathogenic
ARL14EP-DT, FSHB
(V79fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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