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Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABTB2, ANO3
+283 more
Copy number loss
See cases
GPathogenic
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
ANO3, ANO3-AS1
+71 more
Copy number gain
See cases
GPathogenic
LOC129390275, LOC129390276
+255 more
Copy number loss
See cases
GPathogenic
ARL14EP-DT, FSHB
Single nucleotide variant
Hypogonadotropic hypogonadism 24 without anosmia
Gassociation
FSHB, ARL14EP-DT
Single nucleotide variant
(5 prime UTR 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
ARL14EP-DT, FSHB
Single nucleotide variant
(intron variant)
not provided
GBenign
ARL14EP-DT, FSHB
Single nucleotide variant
(intron variant)
not provided
GBenign
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL14EP-DT, FSHB
(F10L)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
(C17Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARL14EP-DT, FSHB
(S20I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARL14EP-DT, FSHB
(I28T)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
(R36H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL14EP-DT, FSHB
(T44S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL14EP-DT, FSHB
Single nucleotide variant
(intron variant)
not provided
GBenign
ARL14EP-DT, FSHB
(R62W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL14EP-DT, FSHB
(C69G)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GPathogenic
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ARL14EP-DT, FSHB
(V79fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL14EP-DT, FSHB
(P82L)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
(Y94*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 24 without anosmia
GPathogenic
ARL14EP-DT, FSHB
(V96A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARL14EP-DT, FSHB
(C100R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
GPathogenic
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 24 without anosmia
+1 more
GConflicting classifications of pathogenicity
ARL14EP-DT, FSHB
(D108H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARL14EP-DT, FSHB
(S109T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARL14EP-DT, FSHB
(S109R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
+1 more
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
FSHB-related disorder
GLikely benign
ARL14EP-DT, FSHB
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARL14EP-DT, FSHB
(R115*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 24 without anosmia
GLikely pathogenic
ARL14EP-DT, FSHB
(R115Q)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 24 without anosmia
+1 more
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
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
+1 more
GBenign
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
+1 more
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
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
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
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
ARL14EP-DT, FSHB
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 24 without anosmia
+1 more
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
Hypogonadotropic hypogonadism 24 without anosmia
GUncertain significance
ARL14EP, DCDC1
+9 more
Deletion
not provided
GUncertain significance
BDNF, BDNF-AS
+11 more
Copy number loss
not provided
Gnot provided
FSHB
Copy number loss
not provided
GLikely benign
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
FSHB
Copy number loss
not provided
GLikely benign
DKK3, DNAJC24
+116 more
Copy number gain
not provided
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
ABTB2, ANO3
+55 more
Copy number loss
not provided
GPathogenic
FSHB
Copy number loss
not provided
GPathogenic
ARL14EP, C11orf91
+23 more
Copy number loss
not provided
GPathogenic
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ABTB2, ANO3
+48 more
Copy number loss
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
ABTB2, APIP
+50 more
Copy number loss
See cases
GPathogenic
KCNA4, KIF18A
+39 more
Copy number loss
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome
GPathogenic
DCDC1, DNAJC24
+44 more
Copy number loss
Aniridia 1
GPathogenic
MPPED2, KCNA4
+12 more
Copy number loss
11p partial monosomy syndrome
GPathogenic
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