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Items: 1 to 100 of 154

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANOS1
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
(P504L)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
(Y436C)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(V371A)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely benign
ANOS1
(E404K)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(D133N)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely benign
ANOS1
(I313V)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(Q66fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(P533L)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(V174I)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(Y579C)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(R247*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Single nucleotide variant
(splice acceptor variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
(G381fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(V44I)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(D286fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
+1 more
GBenign/Likely benign
ANOS1
(H568Q)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
Duplication
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
Deletion
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely benign
ANOS1
(R506W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ANOS1
(Q417R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANOS1
(V9I)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(S278fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely benign
ANOS1
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
(Q69H)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(V500fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(G567R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(Q249fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(A47S)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(K162N)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(Q610fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely benign
ANOS1
(V618I)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(Q415K)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely benign
ANOS1
(Q608L)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
(R348Q)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
+1 more
GUncertain significance
ANOS1
Deletion
(inframe_deletion)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
Single nucleotide variant
(synonymous variant)
ANOS1-related disorder
+2 more
GBenign/Likely benign
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
(T275A)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
+1 more
GConflicting classifications of pathogenicity
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
(R33P)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(S609Y)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(P622fs)
Duplication
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(Q417*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(F68fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(R272*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(Q196*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
Deletion
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(R191*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Deletion
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(Q57fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(A292T)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(Q586*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(W589*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Single nucleotide variant
(splice acceptor variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
(R282fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
+1 more
GConflicting classifications of pathogenicity
ANOS1
(A32fs)
Duplication
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely benign
ANOS1
(R631*)
Indel
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(Y680C)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(L624R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
(S113R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GUncertain significance
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GConflicting classifications of pathogenicity
ANOS1
(W258fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(C172S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANOS1
(E514fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
ANOS1
(T59fs)
Duplication
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
Duplication
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
+1 more
GLikely benign
ANOS1
(R297Q)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
(M582T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
(G72S)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
(G641R)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely benign
ANOS1
(N304S)
Single nucleotide variant
(missense variant)
ANOS1-related disorder
+1 more
GBenign/Likely benign
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign
ANOS1
(R461W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign/Likely benign
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
+1 more
GBenign
ANOS1
(G26R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign/Likely benign
ANOS1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GBenign/Likely benign
ANOS1
(C105fs)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 1 with or without anosmia
GLikely pathogenic
ANOS1
(W258*)
Single nucleotide variant
(nonsense)
Hypogonadotropic hypogonadism 1 with or without anosmia
GPathogenic
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