ANOS1 — 368 ClinVar variants

All ClinVar germline ANOS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

60 Pathogenic · 4 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 21 Conflicting · 41 Benign · 14 Benign/Likely benign · 53 Likely benign · 149 Uncertain significance

Full ANOS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 160

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ANOS1 p.Glu514Lys Pathogenic No assertion criteria
hypogonadotropic hypogonadism 1 with or without anosmia

Predictors agree, ClinVar conflicts 10

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ANOS1 p.Arg506Trp Conflicting Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Cys172Tyr Conflicting Single submitter
Micropenis
ANOS1 p.Gly26Arg Conflicting Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Gly474Arg Conflicting Single submitter
Inborn genetic diseases
ANOS1 p.His672Arg Conflicting Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ile323Met Conflicting Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Pro27Ala Conflicting Single submitter
Inborn genetic diseases
ANOS1 p.Ser396Leu Conflicting Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Val534Ile Conflicting Single submitter
hypogonadotropic hypogonadism
ANOS1 p.Val560Ile Conflicting Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia

Predictors lean, ClinVar uncertain 89

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ANOS1 p.Arg457Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Arg457Leu Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Asp367Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Cys172Ser Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Cys53Tyr Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Gln100Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Gln415Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Gln417Arg Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Gly42Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.His568Gln Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Lys449Gln Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Met582Val Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Pro214Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Ser38Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Val618Ile Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ala144Val Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ala292Thr Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ala388Thr Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Ala41Asp Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Arg410Gly Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Arg427His Uncertain significance Single submitter
ANOS1 p.Arg46Ser Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Arg679Ile Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Asn209Ser Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Asn599Asp Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Asp232Asn Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Asp452Asn Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Cys134Gly Uncertain significance Single submitter
ANOS1 p.Cys134Tyr Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Cys151Tyr Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Cys157Arg Uncertain significance Single submitter
ANOS1 p.Cys157Phe Uncertain significance Single submitter
ANOS1 p.Cys157Tyr Uncertain significance Single submitter
ANOS1 p.Cys164Arg Uncertain significance Single submitter
ANOS1 p.Cys49Tyr Uncertain significance Single submitter
ANOS1 p.Cys523Arg Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Cys523Tyr Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Cys53Arg Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Cys86Tyr Uncertain significance Single submitter
hypogonadotropic hypogonadism
ANOS1 p.Gln57Arg Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Glu246Lys Uncertain significance Single submitter
ANOS1 p.Glu404Lys Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Gly528Glu Uncertain significance Single submitter
ANOS1 p.Gly567Arg Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Gly72Arg Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.His393Gln Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.His459Arg Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.His469Gln Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.His664Gln Uncertain significance Single submitter
ANOS1 p.Ile253Val Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Ile313Val Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ile414Met Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Leu624Arg Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Lys162Asn Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Lys162Glu Uncertain significance Single submitter
ANOS1-related disorder
ANOS1 p.Lys389Glu Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Lys666Asn Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Lys674Glu Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Lys674Thr Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Phe68Leu Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Pro533Leu Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Pro581Thr Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Pro6Ser Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ser113Arg Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ser119Arg Uncertain significance Single submitter
ANOS1 p.Ser338Gly Uncertain significance Single submitter
ANOS1 p.Ser358Tyr Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Ser509Arg Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Ser604Gly Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Ser676Phe Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Thr352Met Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Thr450Ala Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Thr583Ser Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Trp258Cys Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Tyr328His Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Tyr436His Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Tyr579Cys Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Tyr680Cys Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Tyr680His Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Val174Ile Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Val182Asp Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Val263Glu Uncertain significance Single submitter
ANOS1 p.Val44Ile Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Val502Ala Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Cys90Trp Uncertain significance No assertion criteria
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Leu54Pro Uncertain significance No assertion criteria
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Leu619Pro Uncertain significance No assertion criteria
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Thr652Lys Uncertain significance No assertion criteria
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Val371Ile Uncertain significance No assertion criteria
amenorrhea

Predictors split 60

The independent predictors disagree with each other — read with care.

ANOS1 p.Ala50Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Arg191Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Arg348Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Arg427Cys Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Glu476Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Gly641Arg Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Pro135Leu Uncertain significance Multiple submitters
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ser55Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ANOS1 p.Ala289Asp Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Ala29Thr Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Ala31Val Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ala47Ser Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Arg262Gln Conflicting Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Arg272Gln Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Arg282Cys Conflicting Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Arg297Gln Benign Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Arg384Trp Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Arg461Trp Conflicting Single submitter
Inborn genetic diseases
ANOS1 p.Arg651Trp Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Asn304Ser Benign Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Asn623Ser Likely benign Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Asn71Ile Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Asp133Asn Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Asp252Asn Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Asp252Val Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Asp353Val Uncertain significance Single submitter
ANOS1 p.Asp491Val Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Gln608Leu Conflicting Single submitter
Inborn genetic diseases
ANOS1 p.Gln69His Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Glu319Gln Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Glu37Lys Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Gly26Asp Uncertain significance Single submitter
ANOS1 p.Gly28Asp Likely benign Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Gly432Arg Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Gly567Ser Conflicting Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ile313Thr Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Leu385Met Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Pro137Ala Conflicting Single submitter
Inborn genetic diseases
ANOS1 p.Pro291Thr Benign Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Pro293Leu Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Pro321Leu Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Pro613Leu Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Pro644Leu Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Pro653Leu Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Ser141Asn Likely pathogenic Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ser165Leu Uncertain significance Single submitter
ANOS1 p.Ser230Arg Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ser284Pro Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Ser40Phe Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Ser511Tyr Benign Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Thr275Ala Conflicting Single submitter
Inborn genetic diseases
ANOS1 p.Thr628Ile Uncertain significance Single submitter
ANOS1 p.Tyr370Cys Uncertain significance Single submitter
Inborn genetic diseases
ANOS1 p.Tyr436Cys Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Val219Ile Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Val311Ile Likely benign Single submitter
Inborn genetic diseases
ANOS1 p.Val371Ala Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Val9Ile Uncertain significance Single submitter
hypogonadotropic hypogonadism 1 with or without anosmia
ANOS1 p.Glu362Gly Uncertain significance No assertion criteria
ANOS1 p.Gly4Glu Uncertain significance No assertion criteria
ANOS1-related disorder

All ANOS1 variants

Pathogenic 60

p.Arg262Ter Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg423Ter Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg424Ter Multiple submitters hypogonadotropic hypogonadism
p.Glu37Ter Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Tyr379Ter Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
c.1062+1G>C Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.856+1G>T Single submitter hypogonadotropic hypogonadism
p.Ala8fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg191Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg247Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg257Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg272Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg34fs Single submitter Inborn genetic diseases
p.Arg631Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Asp286fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Asp322fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Asp95fs Single submitter
p.Gln196Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gln249fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gln417Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gln57fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gln586Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gln610fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gln66fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Glu194Ter Single submitter
p.Glu514fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Glu539Ter Single submitter
p.Glu595fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Glu633fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gly381fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Leu12fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Leu178fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Leu341fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Lys386fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Met1Ile Single submitter
p.Met1Leu Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Met1Val Single submitter ANOS1-related disorder
p.Phe68fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Pro183_Leu184insTer Single submitter
p.Pro622fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Ser165Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Ser43fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Ser545fs Single submitter
p.Thr594fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Trp15Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Trp589Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Tyr630fs Single submitter
p.Val500fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1062+1G>T No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
c.1449+2del No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
c.1842+412_*1083del No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
c.544_726+2del No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Ala32fs No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Asp36fs No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Cys90Ter No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Glu514Lys No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ser278fs No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Trp237Ter No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Trp258fs No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Trp258Ter No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia

Pathogenic/Likely pathogenic 4

c.1063-1G>C Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
c.1449+1G>A Multiple submitters hypogonadotropic hypogonadism
p.Arg457Ter Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Cys86Ser Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia

Likely pathogenic 26

c.1062+1del Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1355-1G>T Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1449+1G>T Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1843-1G>A Single submitter
c.1843-1G>C Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.318+1G>C Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.726+1G>A Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Asn623fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Cys105fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Cys163Tyr Single submitter
p.Cys164del Single submitter
p.Cys49Arg Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Cys86Phe Single submitter
p.Gln635Pro Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Lys339Ter Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Phe650fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Ser141Asn Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Thr275fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Thr59fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Trp237Arg Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg282fs No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Asp133fs No assertion criteria
p.Cys164fs No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Gln365Ter No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Glu246Ter No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Ser84fs No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia

Conflicting classifications of pathogenicity 21

c.1062+5G>A Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.255+5G>A Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.857-10G>T Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg262Gln Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Arg282Cys Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Arg461Trp Single submitter Inborn genetic diseases ⚠
p.Arg506Trp Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Cys172Tyr Single submitter Micropenis ⚠
p.Gln608Leu Single submitter Inborn genetic diseases ⚠
p.Gly26Arg Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Gly474Arg Single submitter Inborn genetic diseases ⚠
p.Gly567Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.His672Arg Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ile323Met Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Lys512= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Pro137Ala Single submitter Inborn genetic diseases ⚠
p.Pro27Ala Single submitter Inborn genetic diseases ⚠
p.Ser396Leu Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Thr275Ala Single submitter Inborn genetic diseases ⚠
p.Val534Ile Single submitter hypogonadotropic hypogonadism ⚠
p.Val560Ile Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠

Benign 41

c.1062+128C>T Multiple submitters
c.1062+97G>T Multiple submitters
c.1208-118G>A Multiple submitters
c.1354+19_1354+22del Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
c.1985-199G>A Multiple submitters
c.1985-26G>T Multiple submitters
c.541+66A>T Multiple submitters
c.727-110A>G Multiple submitters
c.857-48T>A Multiple submitters
c.-91T>G Multiple submitters
p.Glu319= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Ile611= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Leu548= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
c.1063-16T>C Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1355-263G>A Single submitter
c.1621+160A>G Single submitter
c.1842+141del Single submitter
c.1984+138del Single submitter
c.1984+13C>T Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1984+272C>T Single submitter
c.1984+325_1984+327del Single submitter
c.207+17G>T Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.256-81del Single submitter
c.318+222del Single submitter
c.319-20A>T Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.*60C>T Single submitter
p.Arg297Gln Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Arg33Pro Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Asn304Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Asp245= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gly381= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gly72Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Phe558Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Pro291Thr Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Pro504Leu Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Ser511Tyr Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Thr302= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Thr352= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Thr594= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Thr652= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Val431= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia

Benign/Likely benign 14

c.255+4C>T Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Ala241= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Asn155Asp Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Glu539Lys Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Glu88= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Lys185Asn Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Met582Thr Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Pro321= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Pro428Leu Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Ser206= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Thr473= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Thr566= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Val543Ile Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Val587Leu Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia

Likely benign 53

c.1449+124G>A Multiple submitters
c.1842+127T>G Multiple submitters
c.541+29C>G Multiple submitters
c.542-84T>A Multiple submitters
p.Ala24= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
p.Arg461Gln Multiple submitters Inborn genetic diseases
p.Pro644= Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia
c.1208-119C>T Single submitter
c.1208-15del Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1208-20A>G Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1355-18C>T Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1449+8C>A Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1621+10C>T Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1621+12C>A Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1842+9C>T Single submitter
c.1843-206T>C Single submitter
c.1843-3del Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1985-234G>A Single submitter
c.207+16del Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.319-11C>A Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.319-243G>A Single submitter
c.541+192T>G Single submitter
c.541+330G>T Single submitter
c.541+9C>A Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.726+13T>A Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.726+178C>T Single submitter
c.727-327G>A Single submitter
c.727-7C>T Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.*106G>A Single submitter
p.Ala144= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Asn623Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Asp233= Single submitter
p.Cys151= Single submitter
p.Gln437= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Gly28Asp Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ile559Val Single submitter Inborn genetic diseases
p.Pro293= Single submitter
p.Pro428= Single submitter
p.Pro581= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Pro639Ala Single submitter Inborn genetic diseases
p.Pro653= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Ser165= Single submitter
p.Ser609Tyr Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Thr310= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Thr378= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Trp332Cys Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Val311= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Val311Ile Single submitter Inborn genetic diseases ⚠
p.Val636= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.318+10del No assertion criteria ANOS1-related disorder
p.Leu195= No assertion criteria ANOS1-related disorder
p.Leu374= No assertion criteria ANOS1-related disorder
p.Lys207= No assertion criteria ANOS1-related disorder

Uncertain significance 149

p.Ala50Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg191Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg348Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg427Cys Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Arg457Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg457Leu Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Asp367Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys172Ser Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Cys53Tyr Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Gln100Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln415Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln417Arg Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Glu476Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly42Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly641Arg Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.His568Gln Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Lys449Gln Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Met582Val Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Pro135Leu Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Pro214Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser38Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser55Asn Multiple submitters Inborn genetic diseases ⚠
p.Val618Ile Multiple submitters hypogonadotropic hypogonadism 1 with or without anosmia ⚠
c.1354+1del Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.1355-10G>A Single submitter
c.207+2dup Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.318+11G>A Single submitter
c.318+3del Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
c.318+5G>A Single submitter ANOS1-related disorder
c.857-10G>A Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Ala144Val Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ala289Asp Single submitter Inborn genetic diseases ⚠
p.Ala292Thr Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ala29Thr Single submitter Inborn genetic diseases ⚠
p.Ala31Val Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ala388Thr Single submitter Inborn genetic diseases ⚠
p.Ala41Asp Single submitter Inborn genetic diseases ⚠
p.Ala47Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Arg272Gln Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Arg384Trp Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Arg410Gly Single submitter Inborn genetic diseases ⚠
p.Arg427His Single submitter ⚠
p.Arg46Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Arg651Trp Single submitter Inborn genetic diseases ⚠
p.Arg679Ile Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Asn209Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Asn599Asp Single submitter Inborn genetic diseases ⚠
p.Asn71Ile Single submitter Inborn genetic diseases ⚠
p.Asp133Asn Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Asp232Asn Single submitter Inborn genetic diseases ⚠
p.Asp252Asn Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Asp252Val Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Asp353Val Single submitter ⚠
p.Asp452Asn Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Asp491Val Single submitter Inborn genetic diseases ⚠
p.Cys134Gly Single submitter ⚠
p.Cys134Tyr Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Cys151Tyr Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Cys157Arg Single submitter ⚠
p.Cys157Phe Single submitter ⚠
p.Cys157Tyr Single submitter ⚠
p.Cys164Arg Single submitter ⚠
p.Cys49Tyr Single submitter ⚠
p.Cys523Arg Single submitter Inborn genetic diseases ⚠
p.Cys523Tyr Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Cys53Arg Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Cys86Tyr Single submitter hypogonadotropic hypogonadism ⚠
p.Gln57Arg Single submitter Inborn genetic diseases ⚠
p.Gln69His Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Glu246Lys Single submitter ⚠
p.Glu319Gln Single submitter Inborn genetic diseases ⚠
p.Glu37Lys Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Glu404Lys Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Gly26Asp Single submitter ⚠
p.Gly432Arg Single submitter Inborn genetic diseases ⚠
p.Gly528Glu Single submitter ⚠
p.Gly567Arg Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Gly72Arg Single submitter Inborn genetic diseases ⚠
p.His393Gln Single submitter Inborn genetic diseases ⚠
p.His459Arg Single submitter Inborn genetic diseases ⚠
p.His469Gln Single submitter Inborn genetic diseases ⚠
p.His483= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.His664Gln Single submitter ⚠
p.Ile253Val Single submitter Inborn genetic diseases ⚠
p.Ile313Thr Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ile313Val Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ile414Met Single submitter Inborn genetic diseases ⚠
p.Leu127= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Leu16= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Leu385Met Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Leu624Arg Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Lys124= Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Lys162Asn Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Lys162Glu Single submitter ANOS1-related disorder ⚠
p.Lys389Glu Single submitter Inborn genetic diseases ⚠
p.Lys666Asn Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Lys674Glu Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Lys674Thr Single submitter Inborn genetic diseases ⚠
p.Phe650_Thr652del Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Phe68Leu Single submitter Inborn genetic diseases ⚠
p.Pro293Leu Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Pro321Leu Single submitter Inborn genetic diseases ⚠
p.Pro533Leu Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Pro581Thr Single submitter Inborn genetic diseases ⚠
p.Pro613Leu Single submitter Inborn genetic diseases ⚠
p.Pro644Leu Single submitter Inborn genetic diseases ⚠
p.Pro653fs Single submitter hypogonadotropic hypogonadism 1 with or without anosmia
p.Pro653Leu Single submitter Inborn genetic diseases ⚠
p.Pro6Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ser113Arg Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ser119Arg Single submitter ⚠
p.Ser165Leu Single submitter ⚠
p.Ser230Arg Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ser284Pro Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Ser338_Lys339insSer Single submitter
p.Ser338Gly Single submitter ⚠
p.Ser358Tyr Single submitter Inborn genetic diseases ⚠
p.Ser40Phe Single submitter Inborn genetic diseases ⚠
p.Ser509Arg Single submitter Inborn genetic diseases ⚠
p.Ser604Gly Single submitter Inborn genetic diseases ⚠
p.Ser676Phe Single submitter Inborn genetic diseases ⚠
p.Thr352Met Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Thr450Ala Single submitter Inborn genetic diseases ⚠
p.Thr583Ser Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Thr628Ile Single submitter ⚠
p.Trp258Cys Single submitter Inborn genetic diseases ⚠
p.Tyr328His Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Tyr370Cys Single submitter Inborn genetic diseases ⚠
p.Tyr436Cys Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Tyr436His Single submitter Inborn genetic diseases ⚠
p.Tyr579Cys Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Tyr680Cys Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Tyr680His Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Val174Ile Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Val182Asp Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Val219Ile Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Val263Glu Single submitter ⚠
p.Val371Ala Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Val44Ile Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Val502Ala Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Val9Ile Single submitter hypogonadotropic hypogonadism 1 with or without anosmia ⚠
c.1449+4A>C No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia
p.Cys90Trp No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Glu362Gly No assertion criteria ⚠
p.Gly4Glu No assertion criteria ANOS1-related disorder ⚠
p.Leu54Pro No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Leu619Pro No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Thr652Lys No assertion criteria hypogonadotropic hypogonadism 1 with or without anosmia ⚠
p.Val371Ile No assertion criteria amenorrhea ⚠