AR — 1015 ClinVar variants

All ClinVar germline AR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 261 flagged for review →

225 Pathogenic · 24 Pathogenic/Likely pathogenic · 119 Likely pathogenic · 44 Conflicting · 86 Benign · 44 Benign/Likely benign · 268 Likely benign · 205 Uncertain significance

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

⚑ Evidence disagreements 261

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 5

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

AR p.Ala429Asp Likely pathogenic Single submitter
Male infertility with azoospermia or oligozoospermia due to single gene mutation
AR p.Glu474Gly Likely pathogenic Single submitter
ovarian cancer
AR p.Gly454Arg Likely pathogenic Single submitter
ovarian cancer
AR p.Val685Ile Likely pathogenic Single submitter
androgen insensitivity syndrome
AR p.Ser648Asn Pathogenic No assertion criteria
Prostate cancer, somatic

Predictors agree, ClinVar conflicts 19

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

AR p.Ala412Glu Conflicting Single submitter
Kennedy disease
AR p.Ala475Val Conflicting Single submitter
hypospadias 1, X-linked
AR p.Ala646Asp Conflicting Single submitter
Kennedy disease
AR p.Ala720Val Conflicting Single submitter
androgen insensitivity syndrome
AR p.Arg727Leu Conflicting Single submitter
Kennedy disease
AR p.Arg761Ser Conflicting Single submitter
androgen insensitivity syndrome
AR p.Cys615Ser Conflicting Single submitter
androgen insensitivity syndrome
AR p.Cys807Tyr Conflicting Single submitter
androgen insensitivity syndrome
AR p.Gln58Leu Conflicting Single submitter
male infertility
AR p.Gln799Glu Conflicting Single submitter
Kennedy disease
AR p.Gln90His Conflicting Single submitter
Kennedy disease
AR p.His690Gln Conflicting Single submitter
androgen insensitivity syndrome
AR p.Ile673Val Conflicting Single submitter
Kennedy disease
AR p.Leu272Phe Conflicting Single submitter
androgen insensitivity syndrome
AR p.Leu864Pro Conflicting Single submitter
androgen insensitivity syndrome
AR p.Lys301Arg Conflicting Single submitter
ovarian cancer
AR p.Lys659Arg Conflicting Single submitter
ovarian cancer
AR p.Pro153Leu Conflicting Single submitter
Kennedy disease
AR p.Tyr835Cys Conflicting Single submitter
androgen insensitivity syndrome

Predictors lean, ClinVar uncertain 96

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

AR p.Ala211Thr Uncertain significance Multiple submitters
Kennedy disease
AR p.Ala722Thr Uncertain significance Multiple submitters
Kennedy disease
AR p.Leu446Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AR p.Lys778Asn Uncertain significance Multiple submitters
androgen insensitivity syndrome
AR p.Pro683Ser Uncertain significance Multiple submitters
androgen insensitivity syndrome
AR p.Ala151Glu Uncertain significance Single submitter
Inborn genetic diseases
AR p.Ala217Thr Uncertain significance Single submitter
Kennedy disease
AR p.Ala299Thr Uncertain significance Single submitter
AR p.Ala331Asp Uncertain significance Single submitter
Inborn genetic diseases
AR p.Ala358Glu Uncertain significance Single submitter
Inborn genetic diseases
AR p.Ala385Ser Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Ala477Pro Uncertain significance Single submitter
Inborn genetic diseases
AR p.Ala766Val Uncertain significance Single submitter
Kennedy disease
AR p.Arg280Ser Uncertain significance Single submitter
AR p.Arg630Gln Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Arg727His Uncertain significance Single submitter
Kennedy disease
AR p.Arg775Gly Uncertain significance Single submitter
Kennedy disease
AR p.Arg787Pro Uncertain significance Single submitter
Kennedy disease
AR p.Asn235Asp Uncertain significance Single submitter
AR p.Asn693Ile Uncertain significance Single submitter
partial androgen insensitivity syndrome
AR p.Asp154Glu Uncertain significance Single submitter
AR p.Asp156Gly Uncertain significance Single submitter
AR p.Asp565His Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Asp880Val Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Cys563Arg Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Cys563Ser Uncertain significance Single submitter
AR p.Cys580Ser Uncertain significance Single submitter
Kennedy disease
AR p.Cys620Tyr Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Gln120Glu Uncertain significance Single submitter
AR p.Gln803Leu Uncertain significance Single submitter
Kennedy disease
AR p.Gln88Leu Uncertain significance Single submitter
Inborn genetic diseases
AR p.Glu43Gln Uncertain significance Single submitter
Inborn genetic diseases
AR p.Glu773Val Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Glu794Asp Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Glu93Lys Uncertain significance Single submitter
male infertility
AR p.Gly209Arg Uncertain significance Single submitter
AR p.Gly228Cys Uncertain significance Single submitter
AR p.Gly396Ser Uncertain significance Single submitter
AR p.Gly416Ser Uncertain significance Single submitter
Inborn genetic diseases
AR p.Gly444Ala Uncertain significance Single submitter
Inborn genetic diseases
AR p.Gly51Ser Uncertain significance Single submitter
Inborn genetic diseases
AR p.Gly590Val Uncertain significance Single submitter
AR p.Gly709Arg Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.His690Asn Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.His875Arg Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Ile665Thr Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Ile681Thr Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Ile836Ser Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Ile899Asn Uncertain significance Single submitter
Kennedy disease
AR p.Leu325Pro Uncertain significance Single submitter
Inborn genetic diseases
AR p.Leu540Phe Uncertain significance Single submitter
Inborn genetic diseases
AR p.Leu729Ser Uncertain significance Single submitter
Kennedy disease
AR p.Leu791Ile Uncertain significance Single submitter
AR p.Leu822Gln Uncertain significance Single submitter
Kennedy disease
AR p.Leu822Val Uncertain significance Single submitter
Kennedy disease
AR p.Lys906Glu Uncertain significance Single submitter
Kennedy disease
AR p.Met524Ile Uncertain significance Single submitter
Inborn genetic diseases
AR p.Met776Thr Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Met788Arg Uncertain significance Single submitter
Kennedy disease
AR p.Phe674Ser Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Phe795Ile Uncertain significance Single submitter
AR p.Phe795Val Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Phe892Val Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Pro119Ser Uncertain significance Single submitter
Inborn genetic diseases
AR p.Pro283Ser Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Pro342Ser Uncertain significance Single submitter
Inborn genetic diseases
AR p.Pro375Ser Uncertain significance Single submitter
Kennedy disease
AR p.Pro381Ser Uncertain significance Single submitter
male infertility
AR p.Pro422Ala Uncertain significance Single submitter
Inborn genetic diseases
AR p.Pro487Thr Uncertain significance Single submitter
Inborn genetic diseases
AR p.Pro513Ser Uncertain significance Single submitter
AR p.Pro515Ala Uncertain significance Single submitter
Inborn genetic diseases
AR p.Pro652Ala Uncertain significance Single submitter
Inborn genetic diseases
AR p.Pro818Ser Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Pro893Gln Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Pro914Arg Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Pro914His Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Ser328Cys Uncertain significance Single submitter
Kennedy disease
AR p.Ser343Phe Uncertain significance Single submitter
Inborn genetic diseases
AR p.Ser598Ile Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Ser760Tyr Uncertain significance Single submitter
Kennedy disease
AR p.Ser779Phe Uncertain significance Single submitter
AR p.Ser889Ile Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Ser901Phe Uncertain significance Single submitter
Kennedy disease
AR p.Thr170Ala Uncertain significance Single submitter
AR p.Thr317Ala Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Thr878Asn Uncertain significance Single submitter
AR p.Tyr572Asp Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Tyr764Phe Uncertain significance Single submitter
AR p.Tyr782Cys Uncertain significance Single submitter
Kennedy disease
AR p.Val478Ala Uncertain significance Single submitter
Inborn genetic diseases
AR p.Val582Asp Uncertain significance Single submitter
Kennedy disease
AR p.Arg485Trp Uncertain significance No assertion criteria
androgen insensitivity syndrome
AR p.Asp297Asn Uncertain significance No assertion criteria
androgen insensitivity syndrome
AR p.Glu838Lys Uncertain significance No assertion criteria
androgen insensitivity syndrome
AR p.Val770Gly Uncertain significance No assertion criteria
androgen insensitivity syndrome

Predictors split 141

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

AR p.Arg841His Pathogenic Multiple submitters
AR-related disorders
AR p.Asn706Ser Pathogenic Multiple submitters
androgen insensitivity syndrome
AR p.Asn757Ser Pathogenic/Likely pathogenic Multiple submitters
androgen insensitivity syndrome
AR p.Gln63Leu Uncertain significance Multiple submitters
androgen insensitivity syndrome
AR p.Gln825Lys Likely pathogenic Multiple submitters
Kennedy disease
AR p.Glu289Lys Uncertain significance Multiple submitters
Kennedy disease
AR p.Leu702Phe Likely pathogenic Multiple submitters
Differences in sex development
AR p.Met750Val Pathogenic Multiple submitters
androgen insensitivity syndrome
AR p.Pro342Leu Uncertain significance Multiple submitters
prostate cancer
AR p.Ser176Arg Benign/Likely benign Multiple submitters
androgen insensitivity syndrome
AR p.Ser741Phe Pathogenic/Likely pathogenic Multiple submitters
androgen insensitivity syndrome
AR p.Tyr408Cys Uncertain significance Multiple submitters
male infertility
AR p.Val867Met Pathogenic Multiple submitters
AR-related disorders
AR p.Val904Leu Pathogenic/Likely pathogenic Multiple submitters
androgen insensitivity syndrome
AR p.Ala242Val Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Ala253Gly Uncertain significance Single submitter
Inborn genetic diseases
AR p.Ala253Val Benign Single submitter
ovarian cancer
AR p.Ala270Asp Uncertain significance Single submitter
Kennedy disease
AR p.Ala680Gly Uncertain significance Single submitter
Kennedy disease
AR p.Ala736Asp Likely pathogenic Single submitter
ovarian cancer
AR p.Ala766Ser Likely pathogenic Single submitter
Differences in sex development
AR p.Ala810Val Uncertain significance Single submitter
AR p.Ala871Glu Pathogenic Single submitter
Kennedy disease
AR p.Ala871Gly Likely pathogenic Single submitter
partial androgen insensitivity syndrome
AR p.Arg13Gly Uncertain significance Single submitter
Inborn genetic diseases
AR p.Arg20Gln Uncertain significance Single submitter
Inborn genetic diseases
AR p.Arg264Trp Uncertain significance Single submitter
Kennedy disease
AR p.Arg362Gly Uncertain significance Single submitter
Inborn genetic diseases
AR p.Arg386His Benign Single submitter
Kennedy disease
AR p.Arg386Leu Likely pathogenic Single submitter
ovarian cancer
AR p.Arg780Gln Uncertain significance Single submitter
partial androgen insensitivity syndrome
AR p.Arg841Ser Uncertain significance Single submitter
partial androgen insensitivity syndrome
AR p.Asn366Lys Uncertain significance Single submitter
AR p.Asn611Ile Conflicting Single submitter
AR-related disorders
AR p.Asn611Lys Pathogenic Single submitter
AR p.Asn728Asp Uncertain significance Single submitter
Inborn genetic diseases
AR p.Asn728Lys Pathogenic Single submitter
prostate cancer
AR p.Asn772His Pathogenic Single submitter
partial androgen insensitivity syndrome
AR p.Asn834Lys Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Asp223Asn Uncertain significance Single submitter
partial androgen insensitivity syndrome
AR p.Asp266Asn Uncertain significance Single submitter
AR p.Asp266His Uncertain significance Single submitter
Inborn genetic diseases
AR p.Asp529Tyr Benign Single submitter
ovarian cancer
AR p.Asp551Gly Uncertain significance Single submitter
AR p.Asp551His Conflicting Single submitter
Kennedy disease
AR p.Asp691Asn Uncertain significance Single submitter
Inborn genetic diseases
AR p.Asp820Gly Uncertain significance Single submitter
AR p.Asp94Tyr Uncertain significance Single submitter
AR-related disorder
AR p.Cys327Tyr Uncertain significance Single submitter
Kennedy disease
AR p.Cys687Arg Pathogenic Single submitter
male infertility
AR p.Gln198Leu Likely benign Single submitter
Kennedy disease
AR p.Gln58Arg Benign Single submitter
ovarian cancer
AR p.Gln60Leu Conflicting Single submitter
Inborn genetic diseases
AR p.Gln64Leu Conflicting Single submitter
Inborn genetic diseases
AR p.Gln65Leu Uncertain significance Single submitter
AR p.Gln66Leu Uncertain significance Single submitter
Inborn genetic diseases
AR p.Gln734Arg Uncertain significance Single submitter
partial androgen insensitivity syndrome
AR p.Gln75Arg Uncertain significance Single submitter
AR p.Glu289Gly Uncertain significance Single submitter
Inborn genetic diseases
AR p.Glu2Gly Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Glu355Gln Conflicting Single submitter
prostate cancer
AR p.Glu442Val Uncertain significance Single submitter
Kennedy disease
AR p.Glu679Asp Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Glu710Lys Pathogenic Single submitter
androgen insensitivity syndrome
AR p.Gly216Arg Likely benign Single submitter
Kennedy disease
AR p.Gly250Val Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Gly260Arg Conflicting Single submitter
Inborn genetic diseases
AR p.Gly337Arg Uncertain significance Single submitter
AR p.Gly396Arg Conflicting Single submitter
Kennedy disease
AR p.Gly455Asp Uncertain significance Single submitter
Inborn genetic diseases
AR p.Gly473Asp Likely benign Single submitter
AR p.Gly709Val Likely pathogenic Single submitter
Kennedy disease
AR p.His382Tyr Uncertain significance Single submitter
AR p.His415Arg Uncertain significance Single submitter
male infertility
AR p.Ile34Asn Uncertain significance Single submitter
Inborn genetic diseases
AR p.Ile899Thr Likely pathogenic Single submitter
androgen insensitivity syndrome
AR p.Ile915Asn Uncertain significance Single submitter
Kennedy disease
AR p.Leu295Pro Uncertain significance Single submitter
AR p.Leu347Arg Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Leu369Pro Conflicting Single submitter
Male infertility with azoospermia or oligozoospermia due to single gene mutation
AR p.Leu575Val Conflicting Single submitter
male infertility
AR p.Leu723Phe Likely pathogenic Single submitter
Kennedy disease
AR p.Leu798Ile Uncertain significance Single submitter
Kennedy disease
AR p.Leu813Phe Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Leu831Phe Pathogenic Single submitter
Kennedy disease
AR p.Leu881Val Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Lys17Asn Likely benign Single submitter
Kennedy disease
AR p.Lys182Thr Uncertain significance Single submitter
AR p.Lys313Glu Uncertain significance Single submitter
male infertility
AR p.Lys826Asn Uncertain significance Single submitter
Inborn genetic diseases
AR p.Met625Val Likely pathogenic Single submitter
androgen insensitivity syndrome
AR p.Met743Val Conflicting Single submitter
androgen insensitivity syndrome
AR p.Met746Leu Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Phe771Leu Uncertain significance Single submitter
Kennedy disease
AR p.Phe827Leu Conflicting Single submitter
male infertility
AR p.Phe877Leu Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Pro342Gln Uncertain significance Single submitter
Inborn genetic diseases
AR p.Pro380Arg Conflicting Single submitter
androgen insensitivity syndrome
AR p.Pro392Arg Conflicting Single submitter
prostate cancer
AR p.Pro392Leu Uncertain significance Single submitter
AR p.Pro392Ser Conflicting Single submitter
partial androgen insensitivity syndrome
AR p.Pro505Thr Conflicting Single submitter
androgen insensitivity syndrome
AR p.Pro549Ser Uncertain significance Single submitter
hypospadias 1, X-linked
AR p.Ser165Thr Uncertain significance Single submitter
Inborn genetic diseases
AR p.Ser346Phe Uncertain significance Single submitter
Inborn genetic diseases
AR p.Ser434Phe Conflicting Single submitter
prostate cancer
AR p.Ser579Thr Likely pathogenic Single submitter
androgen insensitivity syndrome
AR p.Ser598Gly Conflicting Single submitter
partial androgen insensitivity syndrome
AR p.Ser598Thr Conflicting Single submitter
androgen insensitivity syndrome
AR p.Ser783Gly Uncertain significance Single submitter
Kennedy disease
AR p.Ser815Asn Likely pathogenic Single submitter
AR-related disorders
AR p.Ser885Pro Uncertain significance Single submitter
Kennedy disease
AR p.Ser909Phe Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Thr163Ala Uncertain significance Single submitter
AR p.Thr559Ser Benign Single submitter
Kennedy disease
AR p.Trp399Arg Pathogenic Single submitter
prostate cancer
AR p.Tyr359Phe Uncertain significance Single submitter
Kennedy disease
AR p.Tyr481Cys Uncertain significance Single submitter
androgen insensitivity syndrome
AR p.Tyr572Phe Uncertain significance Single submitter
Kennedy disease
AR p.Tyr835Phe Uncertain significance Single submitter
AR p.Val10Gly Uncertain significance Single submitter
Inborn genetic diseases
AR p.Val30Met Uncertain significance Single submitter
AR p.Val3Met Conflicting Single submitter
ovarian cancer
AR p.Val686Leu Likely pathogenic Single submitter
partial androgen insensitivity syndrome
AR p.Val731Met Conflicting Single submitter
Kennedy disease
AR p.Val737Phe Uncertain significance Single submitter
Kennedy disease
AR p.Val890Ala Uncertain significance Single submitter
Kennedy disease
AR p.Val890Leu Likely pathogenic Single submitter
AR p.Val902Ala Uncertain significance Single submitter
Inborn genetic diseases
AR p.Val904Met Likely pathogenic Single submitter
androgen insensitivity syndrome
AR p.Arg609Lys Pathogenic No assertion criteria
Androgen insensitivity, partial, with breast cancer
AR p.Gly248Val Pathogenic No assertion criteria
androgen insensitivity syndrome
AR p.Ile870Met Pathogenic No assertion criteria
hypospadias 1, X-linked
AR p.Phe828Leu Pathogenic No assertion criteria
androgen insensitivity syndrome
AR p.Pro172Leu Uncertain significance No assertion criteria
androgen insensitivity syndrome
AR p.Ser741Cys Pathogenic No assertion criteria
partial androgen insensitivity syndrome
AR p.Thr878Ala Pathogenic No assertion criteria
Prostate cancer, somatic
AR p.Thr878Ile Uncertain significance No assertion criteria
androgen insensitivity syndrome
AR p.Thr878Ser Pathogenic No assertion criteria
Prostate cancer, somatic
AR p.Tyr916Ser Likely pathogenic No assertion criteria
androgen insensitivity syndrome
AR p.Val867Leu Pathogenic No assertion criteria
partial androgen insensitivity syndrome

All AR variants

Pathogenic 225

c.1769-11T>A Multiple submitters Kennedy disease
c.2450-6C>G Multiple submitters androgen insensitivity syndrome
p.Ala597Thr Multiple submitters AR-related disorders
p.Ala766Thr Multiple submitters androgen insensitivity syndrome
p.Arg511Ter Multiple submitters AR-related disorder
p.Arg608Ter Multiple submitters androgen insensitivity syndrome
p.Arg616His Multiple submitters androgen insensitivity syndrome
p.Arg753Ter Multiple submitters androgen insensitivity syndrome
p.Arg775Cys Multiple submitters Kennedy disease
p.Arg775His Multiple submitters Kennedy disease
p.Arg780Trp Multiple submitters androgen insensitivity syndrome
p.Arg787Ter Multiple submitters androgen insensitivity syndrome
p.Arg832Gln Multiple submitters androgen insensitivity syndrome
p.Arg832Ter Multiple submitters androgen insensitivity syndrome
p.Arg841Cys Multiple submitters Differences in sex development
p.Arg841His Multiple submitters AR-related disorders ⚠
p.Arg856Cys Multiple submitters androgen insensitivity syndrome
p.Arg856Leu Multiple submitters Differences in sex development
p.Asn706Ser Multiple submitters androgen insensitivity syndrome ⚠
p.Asp696Asn Multiple submitters AR-related disorders
p.Asp768fs Multiple submitters androgen insensitivity syndrome
p.Gln59Ter Multiple submitters androgen insensitivity syndrome
p.Gln60Ter Multiple submitters AR-related disorders
p.Gln803fs Multiple submitters Kennedy disease
p.Glu355Ter Multiple submitters androgen insensitivity syndrome
p.Ile843Thr Multiple submitters partial androgen insensitivity syndrome
p.Met1Leu Multiple submitters Kennedy disease
p.Met750Val Multiple submitters androgen insensitivity syndrome ⚠
p.Pro487fs Multiple submitters androgen insensitivity syndrome
p.Ser889= Multiple submitters Kennedy disease
p.Trp752Ter Multiple submitters androgen insensitivity syndrome
p.Val867Met Multiple submitters AR-related disorders ⚠
p.Val890Met Multiple submitters androgen insensitivity syndrome
c.1885+2T>G Single submitter Kennedy disease
c.1886-1G>A Single submitter
c.2317_2318+2del Single submitter
c.2318+1G>C Single submitter androgen insensitivity syndrome
c.2319-1G>C Single submitter Kennedy disease
c.2450-1G>A Single submitter
c.2607+1G>A Single submitter
p.Ala140fs Single submitter
p.Ala47delinsTrpGluGlySerThrLeuGlyArgArgProArgProThrGluGluLeuSerArgIleCysSerArgAlaCysAlaLysTer Single submitter
p.Ala52fs Single submitter hypospadias 1, X-linked
p.Ala680_Val685del Single submitter
p.Ala722fs Single submitter androgen insensitivity syndrome
p.Ala766Asp Single submitter
p.Ala871Glu Single submitter Kennedy disease ⚠
p.Arg102Ter Single submitter androgen insensitivity syndrome
p.Arg539fs Single submitter androgen insensitivity syndrome
p.Arg586Ter Single submitter androgen insensitivity syndrome
p.Arg832Gly Single submitter androgen insensitivity syndrome
p.Asn224_Tyr225insTer Single submitter
p.Asn611Lys Single submitter ⚠
p.Asn728Lys Single submitter prostate cancer ⚠
p.Asn757fs Single submitter Kennedy disease
p.Asn772His Single submitter partial androgen insensitivity syndrome ⚠
p.Asn834_Tyr835insTer Single submitter Kennedy disease
p.Asp156fs Single submitter Kennedy disease
p.Asp183fs Single submitter Kennedy disease
p.Asp496fs Single submitter androgen insensitivity syndrome
p.Asp605Gly Single submitter androgen insensitivity syndrome
p.Asp691Glu Single submitter androgen insensitivity syndrome
p.Asp829Val Single submitter male infertility
p.Cys131Ter Single submitter
p.Cys290Ter Single submitter androgen insensitivity syndrome
p.Cys570fs Single submitter Kennedy disease
p.Cys580fs Single submitter androgen insensitivity syndrome
p.Cys602Gly Single submitter
p.Cys602Phe Single submitter Differences in sex development
p.Cys615fs Single submitter Kennedy disease
p.Cys687Arg Single submitter male infertility ⚠
p.Cys807Ter Single submitter Kennedy disease
p.Gln115delinsHisArgTer Single submitter Kennedy disease
p.Gln120Ter Single submitter Kennedy disease
p.Gln24fs Single submitter
p.Gln445fs Single submitter androgen insensitivity syndrome
p.Gln488fs Single submitter androgen insensitivity syndrome
p.Gln488Ter Single submitter 46,XY complete gonadal dysgenesis
p.Gln493Ter Single submitter Kennedy disease
p.Gln58Ter Single submitter
p.Gln62Ter Single submitter androgen insensitivity syndrome
p.Gln63Ter Single submitter Kennedy disease
p.Gln64Ter Single submitter Kennedy disease
p.Gln65_Gln67delinsHisTer Single submitter androgen insensitivity syndrome
p.Gln658Ter Single submitter Kennedy disease
p.Gln68Ter Single submitter
p.Gln70Ter Single submitter prostate cancer
p.Gln73Ter Single submitter androgen insensitivity syndrome
p.Gln74Ter Single submitter androgen insensitivity syndrome
p.Gln77Ter Single submitter Female external genitalia in individual with 46,XY karyotype
p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Single submitter Kennedy disease
p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Single submitter Differences in sex development
p.Gln80_Glu81insGlnGlnGlnTer Single submitter Kennedy disease
p.Gln859Ter Single submitter Kennedy disease
p.Gln90Ter Single submitter androgen insensitivity syndrome
p.Gln91Ter Single submitter androgen insensitivity syndrome
p.Gln98Ter Single submitter androgen insensitivity syndrome
p.Glu155Ter Single submitter androgen insensitivity syndrome
p.Glu187Ter Single submitter Kennedy disease
p.Glu204Ter Single submitter hypospadias 1, X-linked
p.Glu252fs Single submitter androgen insensitivity syndrome
p.Glu252Ter Single submitter androgen insensitivity syndrome
p.Glu523Ter Single submitter androgen insensitivity syndrome
p.Glu710Lys Single submitter androgen insensitivity syndrome ⚠
p.Glu81fs Single submitter Kennedy disease
p.Glu838Ter Single submitter Kennedy disease
p.Gly322fs Single submitter androgen insensitivity syndrome
p.Gly337fs Single submitter androgen insensitivity syndrome
p.Gly448fs Single submitter Kennedy disease
p.Gly569Trp Single submitter androgen insensitivity syndrome
p.Gly709Glu Single submitter androgen insensitivity syndrome
p.Gly744Val Single submitter Kennedy disease
p.Gly821_Leu822insTer Single submitter androgen insensitivity syndrome
p.His384fs Single submitter Kennedy disease
p.Ile900Phe Single submitter androgen insensitivity syndrome
p.Leu110fs Single submitter androgen insensitivity syndrome
p.Leu347fs Single submitter
p.Leu438fs Single submitter Kennedy disease
p.Leu575fs Single submitter androgen insensitivity syndrome
p.Leu617Pro Single submitter androgen insensitivity syndrome
p.Leu701Phe Single submitter androgen insensitivity syndrome
p.Leu713Phe Single submitter Kennedy disease
p.Leu723Ser Single submitter androgen insensitivity syndrome
p.Leu813Pro Single submitter
p.Leu831Phe Single submitter Kennedy disease ⚠
p.Leu839Ile Single submitter Kennedy disease
p.Leu860Phe Single submitter
p.Lys633Ter Single submitter androgen insensitivity syndrome
p.Lys721fs Single submitter androgen insensitivity syndrome
p.Lys778fs Single submitter androgen insensitivity syndrome
p.Met743Lys Single submitter
p.Phe312fs Single submitter
p.Phe439fs Single submitter androgen insensitivity syndrome
p.Phe584del Single submitter Kennedy disease
p.Phe726Leu Single submitter androgen insensitivity syndrome
p.Phe765Leu Single submitter
p.Phe795fs Single submitter
p.Phe879fs Single submitter Kennedy disease
p.Phe917fs Single submitter Kennedy disease
p.Pro283fs Single submitter androgen insensitivity syndrome
p.Pro449fs Single submitter androgen insensitivity syndrome
p.Pro767Ala Single submitter androgen insensitivity syndrome
p.Pro893Ser Single submitter Kennedy disease
p.Ser117fs Single submitter
p.Ser233fs Single submitter
p.Ser310fs Single submitter Kennedy disease
p.Ser343fs Single submitter
p.Ser426Ter Single submitter androgen insensitivity syndrome
p.Ser651fs Single submitter
p.Ser663Ter Single submitter androgen insensitivity syndrome
p.Ser854Ter Single submitter
p.Thr484fs Single submitter androgen insensitivity syndrome
p.Trp399Arg Single submitter prostate cancer ⚠
p.Trp719Ter Single submitter androgen insensitivity syndrome
p.Trp742Leu Single submitter androgen insensitivity syndrome
p.Trp742Ter Single submitter androgen insensitivity syndrome
p.Trp797Ter Single submitter Kennedy disease
p.Tyr107Ter Single submitter androgen insensitivity syndrome
p.Tyr348Ter Single submitter androgen insensitivity syndrome
p.Tyr365Ter Single submitter complete androgen insensitivity syndrome
p.Tyr395Ter Single submitter androgen insensitivity syndrome
p.Tyr408Ter Single submitter androgen insensitivity syndrome
p.Tyr481fs Single submitter androgen insensitivity syndrome
p.Tyr535Ter Single submitter Kennedy disease
p.Tyr740Ter Single submitter androgen insensitivity syndrome
p.Tyr774Ter Single submitter Kennedy disease
p.Tyr835Ter Single submitter androgen insensitivity syndrome
p.Val245fs Single submitter androgen insensitivity syndrome
p.Val251fs Single submitter androgen insensitivity syndrome
p.Val279fs Single submitter Kennedy disease
p.Val731_Asp733del Single submitter androgen insensitivity syndrome
c.171GCA[10_36] No assertion criteria Kennedy disease
c.(2173+1_2174-1 No assertion criteria androgen insensitivity syndrome
c.(2318+1_2319-1 No assertion criteria androgen insensitivity syndrome
c.2449+5G>T No assertion criteria partial androgen insensitivity syndrome
c.2607+2T>G No assertion criteria androgen insensitivity syndrome
p.Arg609Lys No assertion criteria Androgen insensitivity, partial, with breast cancer ⚠
p.Arg630fs No assertion criteria androgen insensitivity syndrome
p.Arg761fs No assertion criteria androgen insensitivity syndrome
p.Arg855fs No assertion criteria androgen insensitivity syndrome
p.Arg872fs No assertion criteria androgen insensitivity syndrome
p.Asp266fs No assertion criteria androgen insensitivity syndrome
p.Asp865Asn No assertion criteria androgen insensitivity syndrome
p.Cys563Tyr No assertion criteria androgen insensitivity syndrome
p.Cys577fs No assertion criteria androgen insensitivity syndrome
p.Cys580Phe No assertion criteria androgen insensitivity syndrome
p.Cys580Tyr No assertion criteria androgen insensitivity syndrome
p.Gln58fs No assertion criteria androgen insensitivity syndrome
p.Gln61fs No assertion criteria androgen insensitivity syndrome
p.Gln72Ter No assertion criteria androgen insensitivity syndrome
p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln No assertion criteria Kennedy disease
p.Gln88fs No assertion criteria AR-related disorder
p.Gln903Arg No assertion criteria Prostate cancer, somatic
p.Glu289Ter No assertion criteria androgen insensitivity syndrome
p.Glu682Lys No assertion criteria androgen insensitivity syndrome
p.Gly248Val No assertion criteria androgen insensitivity syndrome ⚠
p.Gly744Glu No assertion criteria androgen insensitivity syndrome
p.His690Pro No assertion criteria androgen insensitivity syndrome
p.His875Tyr No assertion criteria Prostate cancer, somatic
p.His886Leu No assertion criteria androgen insensitivity syndrome
p.Ile870Met No assertion criteria hypospadias 1, X-linked ⚠
p.Ile907fs No assertion criteria androgen insensitivity syndrome
p.Ile915fs No assertion criteria AR-related disorder
p.Leu174Ter No assertion criteria partial androgen insensitivity syndrome
p.Leu345fs No assertion criteria androgen insensitivity syndrome
p.Leu678Pro No assertion criteria androgen insensitivity syndrome
p.Leu708Arg No assertion criteria androgen insensitivity syndrome
p.Lys591Ter No assertion criteria androgen insensitivity syndrome
p.Lys884Ter No assertion criteria androgen insensitivity syndrome
p.Met788Val No assertion criteria androgen insensitivity syndrome
p.Met896del No assertion criteria androgen insensitivity syndrome
p.Phe583Tyr No assertion criteria androgen insensitivity syndrome
p.Phe828Leu No assertion criteria androgen insensitivity syndrome ⚠
p.Phe857Leu No assertion criteria androgen insensitivity syndrome
p.Pro724Leu No assertion criteria androgen insensitivity syndrome
p.Ser215fs No assertion criteria androgen insensitivity syndrome
p.Ser648Asn No assertion criteria Prostate cancer, somatic ⚠
p.Ser741Cys No assertion criteria partial androgen insensitivity syndrome ⚠
p.Ser866Pro No assertion criteria androgen insensitivity syndrome
p.Thr756fs No assertion criteria androgen insensitivity syndrome
p.Thr878Ala No assertion criteria Prostate cancer, somatic ⚠
p.Thr878Ser No assertion criteria Prostate cancer, somatic ⚠
p.Trp719Arg No assertion criteria androgen insensitivity syndrome
p.Tyr764Cys No assertion criteria partial androgen insensitivity syndrome
p.Val867Leu No assertion criteria partial androgen insensitivity syndrome ⚠

Pathogenic/Likely pathogenic 24

c.1768+2T>C Multiple submitters androgen insensitivity syndrome
p.Ala588Pro Multiple submitters androgen insensitivity syndrome
p.Ala688Val Multiple submitters Kennedy disease
p.Ala871Val Multiple submitters hypospadias 1, X-linked
p.Arg608Gln Multiple submitters AR-related disorders
p.Arg616Cys Multiple submitters androgen insensitivity syndrome
p.Arg753Gln Multiple submitters AR-related disorders
p.Arg856His Multiple submitters Kennedy disease
p.Arg856Ser Multiple submitters androgen insensitivity syndrome
p.Asn757Ser Multiple submitters androgen insensitivity syndrome ⚠
p.Asp733Asn Multiple submitters Kennedy disease
p.Cys577Arg Multiple submitters AR-related disorders
p.Glu323Ter Multiple submitters androgen insensitivity syndrome
p.Met746Thr Multiple submitters androgen insensitivity syndrome
p.Met781Ile Multiple submitters androgen insensitivity syndrome
p.Met808Thr Multiple submitters Kennedy disease
p.Pro534_Tyr535insTer Multiple submitters androgen insensitivity syndrome
p.Pro724Ser Multiple submitters androgen insensitivity syndrome
p.Pro893Leu Multiple submitters androgen insensitivity syndrome
p.Ser741Phe Multiple submitters androgen insensitivity syndrome ⚠
p.Tyr481Ter Multiple submitters androgen insensitivity syndrome
p.Tyr572Cys Multiple submitters androgen insensitivity syndrome
p.Val747Met Multiple submitters androgen insensitivity syndrome
p.Val904Leu Multiple submitters androgen insensitivity syndrome ⚠

Likely pathogenic 119

p.Gln825Lys Multiple submitters Kennedy disease ⚠
p.His777Asp Multiple submitters androgen insensitivity syndrome
p.Leu702Phe Multiple submitters Differences in sex development ⚠
p.Pro914Ser Multiple submitters Kennedy disease
c.1616+1G>C Single submitter AR-related disorders
c.1768+1G>A Single submitter androgen insensitivity syndrome
c.1886-1G>T Single submitter AR-related disorders
c.2174-2A>G Single submitter androgen insensitivity syndrome
c.2449+1_2449+3dup Single submitter androgen insensitivity syndrome
c.2449+1G>A Single submitter androgen insensitivity syndrome
c.2450-42G>A Single submitter
p.Ala217fs Single submitter
p.Ala401fs Single submitter androgen insensitivity syndrome
p.Ala429Asp Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
p.Ala574Pro Single submitter
p.Ala587Asp Single submitter Differences in sex development
p.Ala736Asp Single submitter ovarian cancer ⚠
p.Ala749Val Single submitter disorder of sexual differentiation
p.Ala766Ser Single submitter Differences in sex development ⚠
p.Ala871Gly Single submitter partial androgen insensitivity syndrome ⚠
p.Arg386Leu Single submitter ovarian cancer ⚠
p.Arg40fs Single submitter AR-related disorders
p.Arg586Lys Single submitter Kennedy disease
p.Arg618Trp Single submitter male infertility
p.Arg630Trp Single submitter
p.Arg711Gly Single submitter
p.Arg753Leu Single submitter
p.Arg780Pro Single submitter androgen insensitivity syndrome
p.Arg787Gln Single submitter male infertility
p.Arg856Pro Single submitter androgen insensitivity syndrome
p.Asn692Lys Single submitter androgen insensitivity syndrome
p.Asn693Lys Single submitter androgen insensitivity syndrome
p.Asn849fs Single submitter androgen insensitivity syndrome
p.Asp605His Single submitter
p.Asp691Gly Single submitter androgen insensitivity syndrome
p.Asp696Val Single submitter androgen insensitivity syndrome
p.Asp768Tyr Single submitter androgen insensitivity syndrome
p.Cys406Ter Single submitter androgen insensitivity syndrome
p.Cys596Arg Single submitter androgen insensitivity syndrome
p.Cys596Tyr Single submitter
p.Cys602Tyr Single submitter androgen insensitivity syndrome
p.Cys612Ser Single submitter androgen insensitivity syndrome
p.Gln739Arg Single submitter
p.Gln79Ter Single submitter androgen insensitivity syndrome
p.Glu474Gly Single submitter ovarian cancer ⚠
p.Glu645Ter Single submitter androgen insensitivity syndrome
p.Glu682Asp Single submitter Kennedy disease
p.Glu682Gly Single submitter androgen insensitivity syndrome
p.Glu773Gly Single submitter Kennedy disease
p.Glu773Lys Single submitter partial androgen insensitivity syndrome
p.Glu804Gly Single submitter
p.Gly250fs Single submitter AR-related disorders
p.Gly454Arg Single submitter ovarian cancer ⚠
p.Gly466fs Single submitter
p.Gly578Arg Single submitter AR-related disorders
p.Gly590Glu Single submitter androgen insensitivity syndrome
p.Gly689Val Single submitter AR-related disorders
p.Gly709Val Single submitter Kennedy disease ⚠
p.Ile604Phe Single submitter androgen insensitivity syndrome
p.Ile681Asn Single submitter
p.Ile899Thr Single submitter androgen insensitivity syndrome ⚠
p.Ile900Met Single submitter Differences in sex development
p.Leu57_Gln58insLeu Single submitter Kennedy disease
p.Leu713Ile Single submitter
p.Leu723Phe Single submitter Kennedy disease ⚠
p.Leu745Phe Single submitter Kennedy disease
p.Leu763Val Single submitter androgen insensitivity syndrome
p.Leu811Pro Single submitter
p.Leu864Arg Single submitter androgen insensitivity syndrome
p.Leu908His Single submitter
p.Lys581Arg Single submitter
p.Lys581Asn Single submitter Kennedy disease
p.Lys581Thr Single submitter androgen insensitivity syndrome
p.Lys585Glu Single submitter androgen insensitivity syndrome
p.Lys610Glu Single submitter androgen insensitivity syndrome
p.Met247fs Single submitter AR-related disorders
p.Met625Val Single submitter androgen insensitivity syndrome ⚠
p.Met750Thr Single submitter AR-related disorders
p.Met781Lys Single submitter androgen insensitivity syndrome
p.Phe583Leu Single submitter androgen insensitivity syndrome
p.Phe584Val Single submitter androgen insensitivity syndrome
p.Phe857del Single submitter androgen insensitivity syndrome
p.Pro12fs Single submitter androgen insensitivity syndrome
p.Pro368fs Single submitter AR-related disorder
p.Pro893Arg Single submitter androgen insensitivity syndrome
p.Pro905Leu Single submitter Kennedy disease
p.Pro914Thr Single submitter
p.Ser208fs Single submitter AR-related disorders
p.Ser579Arg Single submitter androgen insensitivity syndrome
p.Ser579Thr Single submitter androgen insensitivity syndrome ⚠
p.Ser697Tyr Single submitter androgen insensitivity syndrome
p.Ser741Pro Single submitter androgen insensitivity syndrome
p.Ser815Asn Single submitter AR-related disorders ⚠
p.Ter921Arg Single submitter androgen insensitivity syndrome
p.Trp742Ser Single submitter
p.Trp752Cys Single submitter androgen insensitivity syndrome
p.Trp752Ser Single submitter androgen insensitivity syndrome
p.Tyr447Ter Single submitter androgen insensitivity syndrome
p.Tyr594Ter Single submitter AR-related disorders
p.Tyr764His Single submitter
p.Tyr782Asp Single submitter
p.Tyr858Ter Single submitter androgen insensitivity syndrome
p.Val685Ile Single submitter androgen insensitivity syndrome ⚠
p.Val686Leu Single submitter partial androgen insensitivity syndrome ⚠
p.Val890Leu Single submitter ⚠
p.Val904Met Single submitter androgen insensitivity syndrome ⚠
c.1616+1_1616+2dup No assertion criteria AR-related disorder
c.1616+1_1616+3delinsT No assertion criteria androgen insensitivity syndrome
c.2318+3_2318+6del No assertion criteria androgen insensitivity syndrome
c.-547C>T No assertion criteria AR-related disorder
p.Gly476fs No assertion criteria androgen insensitivity syndrome
p.Ile562Thr No assertion criteria androgen insensitivity syndrome
p.Leu702His No assertion criteria prostate cancer
p.Leu831His No assertion criteria androgen insensitivity syndrome
p.Lys585Gln No assertion criteria androgen insensitivity syndrome
p.Met1Thr No assertion criteria androgen insensitivity syndrome
p.Phe879Ser No assertion criteria androgen insensitivity syndrome
p.Phe892_Pro893insPhe No assertion criteria AR-related disorder
p.Tyr916Ser No assertion criteria androgen insensitivity syndrome ⚠

Conflicting classifications of pathogenicity 44

c.1885+4A>T Single submitter androgen insensitivity syndrome
p.Ala412Glu Single submitter Kennedy disease ⚠
p.Ala475Val Single submitter hypospadias 1, X-linked ⚠
p.Ala646Asp Single submitter Kennedy disease ⚠
p.Ala720Val Single submitter androgen insensitivity syndrome ⚠
p.Arg727Leu Single submitter Kennedy disease ⚠
p.Arg761Ser Single submitter androgen insensitivity syndrome ⚠
p.Asn611Ile Single submitter AR-related disorders ⚠
p.Asp551His Single submitter Kennedy disease ⚠
p.Cys615Ser Single submitter androgen insensitivity syndrome ⚠
p.Cys807Tyr Single submitter androgen insensitivity syndrome ⚠
p.Gln58Leu Single submitter male infertility ⚠
p.Gln60Leu Single submitter Inborn genetic diseases ⚠
p.Gln64Leu Single submitter Inborn genetic diseases ⚠
p.Gln799Glu Single submitter Kennedy disease ⚠
p.Gln90His Single submitter Kennedy disease ⚠
p.Glu355Gln Single submitter prostate cancer ⚠
p.Gly260Arg Single submitter Inborn genetic diseases ⚠
p.Gly396Arg Single submitter Kennedy disease ⚠
p.Gly464_Gly473del Single submitter androgen insensitivity syndrome
p.His690Gln Single submitter androgen insensitivity syndrome ⚠
p.Ile673Val Single submitter Kennedy disease ⚠
p.Leu272Phe Single submitter androgen insensitivity syndrome ⚠
p.Leu369Pro Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
p.Leu57_Gln58insLeuGlnGln Single submitter androgen insensitivity syndrome
p.Leu575Val Single submitter male infertility ⚠
p.Leu57dup Single submitter androgen insensitivity syndrome
p.Leu864Pro Single submitter androgen insensitivity syndrome ⚠
p.Lys301Arg Single submitter ovarian cancer ⚠
p.Lys659Arg Single submitter ovarian cancer ⚠
p.Met743Val Single submitter androgen insensitivity syndrome ⚠
p.Met887Val Single submitter Inborn genetic diseases
p.Phe827Leu Single submitter male infertility ⚠
p.Pro153Leu Single submitter Kennedy disease ⚠
p.Pro380Arg Single submitter androgen insensitivity syndrome ⚠
p.Pro392Arg Single submitter prostate cancer ⚠
p.Pro392Ser Single submitter partial androgen insensitivity syndrome ⚠
p.Pro505Thr Single submitter androgen insensitivity syndrome ⚠
p.Ser434Phe Single submitter prostate cancer ⚠
p.Ser598Gly Single submitter partial androgen insensitivity syndrome ⚠
p.Ser598Thr Single submitter androgen insensitivity syndrome ⚠
p.Tyr835Cys Single submitter androgen insensitivity syndrome ⚠
p.Val3Met Single submitter ovarian cancer ⚠
p.Val731Met Single submitter Kennedy disease ⚠

Benign 86

c.1886-207A>T Multiple submitters
c.1886-60G>A Multiple submitters androgen insensitivity syndrome
c.2319-78T>G Multiple submitters
c.2450-44G>A Multiple submitters androgen insensitivity syndrome
p.Cys596= Multiple submitters androgen insensitivity syndrome
p.Gln77_Gln80del Multiple submitters Kennedy disease
p.Gln79_Gln80del Multiple submitters androgen insensitivity syndrome
p.Glu213= Multiple submitters Kennedy disease
p.Gly467_Gly473del Multiple submitters androgen insensitivity syndrome
p.Gly468_Gly473del Multiple submitters androgen insensitivity syndrome
p.Leu548Phe Multiple submitters prostate cancer, hereditary, X-linked 3
p.Leu839= Multiple submitters androgen insensitivity syndrome
p.Lys581= Multiple submitters Kennedy disease
p.Ser343= Multiple submitters Kennedy disease
p.Ser495Asn Multiple submitters Kennedy disease
c.1616+21621G>A Single submitter Kennedy disease
c.1617-13dup Single submitter Kennedy disease
c.1617-255A>G Single submitter
c.1768+204T>G Single submitter
c.1885+13T>C Single submitter Kennedy disease
c.1886-10T>C Single submitter Kennedy disease
c.2318+243A>G Single submitter
c.2318+285A>G Single submitter
c.2318+7G>T Single submitter Kennedy disease
c.2319-10T>C Single submitter Kennedy disease
c.2319-17G>A Single submitter Kennedy disease
c.2319-9C>T Single submitter Kennedy disease
c.2607+12A>G Single submitter Kennedy disease
c.2607+20T>C Single submitter Kennedy disease
c.2608-165AC[14] Single submitter
c.2608-165AC[15] Single submitter
c.2608-17_2608-16del Single submitter Kennedy disease
c.2608-17C>T Single submitter Kennedy disease
c.2608-6C>T Single submitter Kennedy disease
p.Ala253Val Single submitter ovarian cancer ⚠
p.Ala299Val Single submitter ovarian cancer
p.Ala441= Single submitter Kennedy disease
p.Ala587= Single submitter Kennedy disease
p.Arg101His Single submitter Kennedy disease
p.Arg13= Single submitter Kennedy disease
p.Arg386His Single submitter Kennedy disease ⚠
p.Arg618= Single submitter Kennedy disease
p.Arg727Cys Single submitter Kennedy disease
p.Asp354Glu Single submitter Kennedy disease
p.Asp529Tyr Single submitter ovarian cancer ⚠
p.Asp605= Single submitter Kennedy disease
p.Asp691= Single submitter Kennedy disease
p.Asp732= Single submitter Kennedy disease
p.Gln493= Single submitter androgen insensitivity syndrome
p.Gln58Arg Single submitter ovarian cancer ⚠
p.Gln77_Gln78insAlaAlaAla Single submitter
p.Glu642= Single submitter androgen insensitivity syndrome
p.Gly173= Single submitter Kennedy disease
p.Gly209Glu Single submitter ovarian cancer
p.Gly329Val Single submitter Kennedy disease
p.Gly460_Gly461insArg Single submitter
p.Gly461_Gly473del Single submitter
p.Gly465_Gly473del Single submitter Kennedy disease
p.Gly466_Gly473del Single submitter androgen insensitivity syndrome
p.Gly471_Gly473dup Single submitter androgen insensitivity syndrome
p.Gly473_Glu474insGly Single submitter Kennedy disease
p.Gly684= Single submitter Kennedy disease
p.Gly796= Single submitter androgen insensitivity syndrome
p.His415Tyr Single submitter androgen insensitivity syndrome
p.His690= Single submitter Kennedy disease
p.His730= Single submitter Kennedy disease
p.Ile842= Single submitter Kennedy disease
p.Leu249= Single submitter androgen insensitivity syndrome
p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln Single submitter Kennedy disease
p.Leu702= Single submitter Kennedy disease
p.Leu860= Single submitter Kennedy disease
p.Phe765= Single submitter Kennedy disease
p.Pro383= Single submitter Kennedy disease
p.Pro672= Single submitter Kennedy disease
p.Pro695= Single submitter Kennedy disease
p.Pro802= Single submitter Kennedy disease
p.Pro97Ser Single submitter ovarian cancer
p.Ser207Arg Single submitter Kennedy disease
p.Ser579= Single submitter Kennedy disease
p.Thr338= Single submitter Kennedy disease
p.Thr559Ser Single submitter Kennedy disease ⚠
p.Tyr481= Single submitter Kennedy disease
p.Tyr514= Single submitter Kennedy disease
p.Tyr552= Single submitter Kennedy disease
c.1363GGT[2_4]GGC[12_29] No assertion criteria androgen insensitivity syndrome
p.Leu57_Gln61del No assertion criteria AR-related disorder

Benign/Likely benign 44

c.1616+12C>T Multiple submitters androgen insensitivity syndrome
c.1617-19G>T Multiple submitters androgen insensitivity syndrome
c.2607+10C>T Multiple submitters androgen insensitivity syndrome
p.Ala398= Multiple submitters Kennedy disease
p.Ala871= Multiple submitters Kennedy disease
p.Arg212= Multiple submitters androgen insensitivity syndrome
p.Asp154= Multiple submitters androgen insensitivity syndrome
p.Gln69_Gln80del Multiple submitters androgen insensitivity syndrome
p.Gln71_Gln80del Multiple submitters androgen insensitivity syndrome
p.Gln71_Gln80dup Multiple submitters Kennedy disease
p.Gln72_Gln80dup Multiple submitters Kennedy disease
p.Gln73_Gln80del Multiple submitters androgen insensitivity syndrome
p.Gln73_Gln80dup Multiple submitters androgen insensitivity syndrome
p.Gln74_Gln80del Multiple submitters Kennedy disease
p.Gln74_Gln80dup Multiple submitters androgen insensitivity syndrome
p.Gln75_Gln80del Multiple submitters androgen insensitivity syndrome
p.Gln75_Gln80dup Multiple submitters
p.Gln76_Gln80del Multiple submitters partial androgen insensitivity syndrome
p.Gln76_Gln80dup Multiple submitters androgen insensitivity syndrome
p.Gln77_Gln80dup Multiple submitters androgen insensitivity syndrome
p.Gln78_Gln80del Multiple submitters Kennedy disease
p.Gln78_Gln80dup Multiple submitters
p.Gln79_Gln80dup Multiple submitters Kennedy disease
p.Gln80del Multiple submitters prostate cancer
p.Gln80dup Multiple submitters Kennedy disease
p.Glu654Lys Multiple submitters Kennedy disease
p.Gly457= Multiple submitters androgen insensitivity syndrome
p.Gly470_Gly473del Multiple submitters androgen insensitivity syndrome
p.Gly470_Gly473dup Multiple submitters androgen insensitivity syndrome
p.Gly471_Gly473del Multiple submitters androgen insensitivity syndrome
p.Gly472_Gly473del Multiple submitters androgen insensitivity syndrome
p.Gly472_Gly473dup Multiple submitters androgen insensitivity syndrome
p.Gly473dup Multiple submitters androgen insensitivity syndrome
p.Gly573= Multiple submitters androgen insensitivity syndrome
p.Leu108= Multiple submitters androgen insensitivity syndrome
p.Leu57Gln Multiple submitters androgen insensitivity syndrome
p.Pro15= Multiple submitters androgen insensitivity syndrome
p.Pro218= Multiple submitters androgen insensitivity syndrome
p.Pro893= Multiple submitters Kennedy disease
p.Ser176Arg Multiple submitters androgen insensitivity syndrome ⚠
p.Thr801= Multiple submitters androgen insensitivity syndrome
p.Tyr269= Multiple submitters androgen insensitivity syndrome
p.Val512= Multiple submitters androgen insensitivity syndrome
p.Val582= Multiple submitters androgen insensitivity syndrome

Likely benign 268

c.1616+22453G>T Multiple submitters
p.Arg630= Multiple submitters androgen insensitivity syndrome
p.Asp296= Multiple submitters Kennedy disease
p.Gln69_Gln80dup Multiple submitters hypospadias 1, X-linked
p.Gln70_Gln80del Multiple submitters
p.Gln72_Gln80del Multiple submitters androgen insensitivity syndrome
p.Gly451= Multiple submitters androgen insensitivity syndrome
p.Gly453= Multiple submitters androgen insensitivity syndrome
p.Gly455= Multiple submitters Kennedy disease
p.Gly456= Multiple submitters androgen insensitivity syndrome
p.Gly458= Multiple submitters Kennedy disease
p.Gly459= Multiple submitters Kennedy disease
p.Gly460= Multiple submitters androgen insensitivity syndrome
p.Gly461= Multiple submitters androgen insensitivity syndrome
p.Gly466= Multiple submitters androgen insensitivity syndrome
p.Gly467= Multiple submitters androgen insensitivity syndrome
p.Gly469_Gly473del Multiple submitters androgen insensitivity syndrome
p.Gly471= Multiple submitters Inborn genetic diseases
p.His715= Multiple submitters androgen insensitivity syndrome
p.Leu57del Multiple submitters androgen insensitivity syndrome
p.Ser866= Multiple submitters androgen insensitivity syndrome
c.1616+18G>A Single submitter
c.1617-5T>C Single submitter Kennedy disease
c.1617-8C>T Single submitter Kennedy disease
c.1768+13G>T Single submitter Kennedy disease
c.1768+14C>T Single submitter Kennedy disease
c.1768+15A>C Single submitter Kennedy disease
c.1768+15A>G Single submitter Kennedy disease
c.1768+16C>T Single submitter Kennedy disease
c.1768+17A>G Single submitter Kennedy disease
c.1768+7G>A Single submitter Kennedy disease
c.1769-15T>C Single submitter Kennedy disease
c.1769-5148A>G Single submitter
c.1769-5189A>T Single submitter
c.1769-61G>A Single submitter
c.1769-83C>A Single submitter
c.1885+13del Single submitter
c.1885+13T>A Single submitter Kennedy disease
c.1885+13T>G Single submitter Kennedy disease
c.1885+14C>A Single submitter Kennedy disease
c.1885+14C>G Single submitter Kennedy disease
c.1885+18_1885+21del Single submitter Kennedy disease
c.1885+20C>T Single submitter Kennedy disease
c.1885+8833T>C Single submitter
c.1885+8A>G Single submitter Kennedy disease
c.1885+9613AC[18] Single submitter
c.1886-11C>A Single submitter Kennedy disease
c.1886-12C>A Single submitter Kennedy disease
c.1886-3T>A Single submitter
c.1886-4A>G Single submitter Kennedy disease
c.2173+12G>T Single submitter Kennedy disease
c.2174-12C>G Single submitter Kennedy disease
c.2174-13T>A Single submitter Kennedy disease
c.2174-13TCT[2] Single submitter Kennedy disease
c.2174-18C>A Single submitter Kennedy disease
c.2318+16G>A Single submitter Kennedy disease
c.2318+18C>T Single submitter Kennedy disease
c.2318+8C>T Single submitter Kennedy disease
c.2319-11C>G Single submitter Kennedy disease
c.2319-13_2319-11dup Single submitter Kennedy disease
c.2319-13A>G Single submitter Kennedy disease
c.2319-15G>T Single submitter Kennedy disease
c.2319-18T>C Single submitter Kennedy disease
c.2319-46dup Single submitter androgen insensitivity syndrome
c.2319-8C>T Single submitter Kennedy disease
c.2449+10T>G Single submitter Kennedy disease
c.2449+17G>A Single submitter Kennedy disease
c.2449+192C>T Single submitter
c.2449+20G>T Single submitter Kennedy disease
c.2449+8C>T Single submitter Kennedy disease
c.2450-11T>A Single submitter Kennedy disease
c.2450-19T>C Single submitter Kennedy disease
c.2450-8C>T Single submitter Kennedy disease
c.2607+11G>A Single submitter Kennedy disease
c.2607+17G>C Single submitter Kennedy disease
c.2607+17G>T Single submitter Kennedy disease
c.2607+18G>A Single submitter Kennedy disease
c.2607+19G>A Single submitter Kennedy disease
c.2608-11G>T Single submitter Kennedy disease
c.2608-14A>T Single submitter Kennedy disease
c.2608-16_2608-15del Single submitter Kennedy disease
c.2608-165AC[13] Single submitter
c.2608-19C>A Single submitter Kennedy disease
c.2608-7C>G Single submitter Kennedy disease
c.-913C>A Single submitter
p.Ala138= Single submitter Kennedy disease
p.Ala140= Single submitter Kennedy disease
p.Ala141Thr Single submitter
p.Ala211= Single submitter Kennedy disease
p.Ala285= Single submitter Kennedy disease
p.Ala288= Single submitter Kennedy disease
p.Ala307= Single submitter Kennedy disease
p.Ala356= Single submitter Kennedy disease
p.Ala358= Single submitter Kennedy disease
p.Ala370= Single submitter Kennedy disease
p.Ala402= Single submitter Kennedy disease
p.Ala404= Single submitter Kennedy disease
p.Ala430= Single submitter Kennedy disease
p.Ala45Gly Single submitter androgen insensitivity syndrome
p.Ala574= Single submitter Kennedy disease
p.Ala699= Single submitter Kennedy disease
p.Arg40Lys Single submitter Kennedy disease
p.Arg511= Single submitter Kennedy disease
p.Arg599= Single submitter Kennedy disease
p.Arg608= Single submitter Kennedy disease
p.Arg780= Single submitter Kennedy disease
p.Arg9= Single submitter androgen insensitivity syndrome
p.Asp111= Single submitter Kennedy disease
p.Asp305= Single submitter Kennedy disease
p.Asp305Gly Single submitter Kennedy disease
p.Asp501= Single submitter Kennedy disease
p.Asp529= Single submitter Kennedy disease
p.Asp545= Single submitter Kennedy disease
p.Asp820= Single submitter Kennedy disease
p.Cys131= Single submitter Kennedy disease
p.Cys577= Single submitter Kennedy disease
p.Cys612= Single submitter Kennedy disease
p.Cys687= Single submitter Kennedy disease
p.Cys807= Single submitter Kennedy disease
p.Gln120= Single submitter Kennedy disease
p.Gln198Leu Single submitter Kennedy disease ⚠
p.Gln199= Single submitter Kennedy disease
p.Gln61_Gln62insAlaAla Single submitter
p.Gln67= Single submitter Kennedy disease
p.Gln671= Single submitter Kennedy disease
p.Gln694= Single submitter Kennedy disease
p.Gln70_Gln80dup Single submitter
p.Gln74= Single submitter Kennedy disease
p.Gln78= Single submitter Kennedy disease
p.Gln80= Single submitter androgen insensitivity syndrome
p.Gln87= Single submitter Kennedy disease
p.Gln91= Single submitter Kennedy disease
p.Gln91dup Single submitter Kennedy disease
p.Gln920= Single submitter Kennedy disease
p.Glu128= Single submitter Kennedy disease
p.Glu474= Single submitter Kennedy disease
p.Glu830= Single submitter Kennedy disease
p.Glu873= Single submitter Kennedy disease
p.Gly209= Single submitter Kennedy disease
p.Gly216Arg Single submitter Kennedy disease ⚠
p.Gly248= Single submitter Kennedy disease
p.Gly265= Single submitter Kennedy disease
p.Gly319= Single submitter
p.Gly329= Single submitter Kennedy disease
p.Gly416= Single submitter Kennedy disease
p.Gly425= Single submitter Kennedy disease
p.Gly452= Single submitter Kennedy disease
p.Gly454= Single submitter Kennedy disease
p.Gly462= Single submitter Kennedy disease
p.Gly463= Single submitter Kennedy disease
p.Gly464= Single submitter Kennedy disease
p.Gly465= Single submitter Kennedy disease
p.Gly469= Single submitter Kennedy disease
p.Gly472= Single submitter Kennedy disease
p.Gly473= Single submitter Kennedy disease
p.Gly473_Glu474insGlyGly Single submitter
p.Gly473_Glu474insGlyGlyGly Single submitter
p.Gly473Asp Single submitter ⚠
p.Gly473del Single submitter Kennedy disease
p.Gly489= Single submitter Kennedy disease
p.Gly506= Single submitter Kennedy disease
p.Gly507Ser Single submitter Kennedy disease
p.Gly569= Single submitter Kennedy disease
p.Gly744= Single submitter Kennedy disease
p.Gly751= Single submitter Kennedy disease
p.His100= Single submitter Kennedy disease
p.His382= Single submitter Kennedy disease
p.Ile184= Single submitter
p.Ile562= Single submitter Kennedy disease
p.Ile604= Single submitter Kennedy disease
p.Ile907= Single submitter Kennedy disease
p.Ile915= Single submitter Kennedy disease
p.Leu166= Single submitter Kennedy disease
p.Leu287= Single submitter Kennedy disease
p.Leu294= Single submitter Kennedy disease
p.Leu295= Single submitter androgen insensitivity syndrome
p.Leu339= Single submitter Kennedy disease
p.Leu341= Single submitter Kennedy disease
p.Leu347= Single submitter Kennedy disease
p.Leu371= Single submitter Kennedy disease
p.Leu393= Single submitter Kennedy disease
p.Leu414= Single submitter Kennedy disease
p.Leu446= Single submitter Kennedy disease
p.Leu490= Single submitter
p.Leu548= Single submitter Kennedy disease
p.Leu56_Leu57insGlnGln Single submitter
p.Leu56_Leu57insGlnGlnGln Single submitter
p.Leu56Gln Single submitter
p.Leu57_Gln58del Single submitter
p.Leu57delinsGlnGln Single submitter
p.Leu640= Single submitter Kennedy disease
p.Leu660= Single submitter Kennedy disease
p.Leu705= Single submitter Kennedy disease
p.Leu745= Single submitter androgen insensitivity syndrome
p.Leu763= Single submitter Kennedy disease
p.Leu798= Single submitter Kennedy disease
p.Leu812= Single submitter Kennedy disease
p.Leu813= Single submitter Kennedy disease
p.Leu822= Single submitter Kennedy disease
p.Leu831= Single submitter Kennedy disease
p.Leu864= Single submitter Kennedy disease
p.Leu874= Single submitter Kennedy disease
p.Leu881= Single submitter Kennedy disease
p.Lys17Asn Single submitter Kennedy disease ⚠
p.Lys558= Single submitter Kennedy disease
p.Lys659= Single submitter Kennedy disease
p.Lys837= Single submitter Kennedy disease
p.Phe805= Single submitter Kennedy disease
p.Phe857= Single submitter Kennedy disease
p.Phe917= Single submitter Kennedy disease
p.Pro104= Single submitter Kennedy disease
p.Pro119= Single submitter Kennedy disease
p.Pro127= Single submitter Kennedy disease
p.Pro153= Single submitter Kennedy disease
p.Pro276= Single submitter Kennedy disease
p.Pro286= Single submitter Kennedy disease
p.Pro342= Single submitter
p.Pro368= Single submitter Kennedy disease
p.Pro375= Single submitter androgen insensitivity syndrome
p.Pro379= Single submitter Kennedy disease
p.Pro422= Single submitter Kennedy disease
p.Pro427= Single submitter Kennedy disease
p.Pro449= Single submitter Kennedy disease
p.Pro50= Single submitter Kennedy disease
p.Pro505= Single submitter Kennedy disease
p.Pro97= Single submitter Kennedy disease
p.Ser121= Single submitter Kennedy disease
p.Ser178= Single submitter Kennedy disease
p.Ser203= Single submitter Kennedy disease
p.Ser230= Single submitter Kennedy disease
p.Ser244= Single submitter androgen insensitivity syndrome
p.Ser29= Single submitter Kennedy disease
p.Ser298= Single submitter Kennedy disease
p.Ser324= Single submitter
p.Ser346Pro Single submitter Kennedy disease
p.Ser397= Single submitter Kennedy disease
p.Ser413= Single submitter Kennedy disease
p.Ser432= Single submitter Kennedy disease
p.Ser522= Single submitter Kennedy disease
p.Ser779= Single submitter Kennedy disease
p.Ser901= Single submitter Kennedy disease
p.Ter921= Single submitter Kennedy disease
p.Thr170= Single submitter Kennedy disease
p.Thr282= Single submitter Kennedy disease
p.Thr303= Single submitter Kennedy disease
p.Thr344= Single submitter Kennedy disease
p.Thr649= Single submitter Kennedy disease
p.Thr653= Single submitter Kennedy disease
p.Thr82= Single submitter androgen insensitivity syndrome
p.Tyr316= Single submitter Kennedy disease
p.Tyr395= Single submitter Kennedy disease
p.Tyr740= Single submitter
p.Tyr774= Single submitter Kennedy disease
p.Val132= Single submitter Kennedy disease
p.Val202= Single submitter Kennedy disease
p.Val662= Single submitter Kennedy disease
p.Val677= Single submitter Kennedy disease
p.Val714= Single submitter Kennedy disease
p.Val716= Single submitter Kennedy disease
p.Val737= Single submitter Kennedy disease
p.Val758= Single submitter Kennedy disease
p.Val770= Single submitter Kennedy disease
p.Val902= Single submitter Kennedy disease
p.Val912= Single submitter Kennedy disease
c.-543C>A No assertion criteria AR-related disorder
p.Gln66_Gln80del No assertion criteria AR-related disorder
p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln No assertion criteria AR-related disorder
p.Ser648= No assertion criteria AR-related disorder

Uncertain significance 205

p.Ala211Thr Multiple submitters Kennedy disease ⚠
p.Ala722Thr Multiple submitters Kennedy disease ⚠
p.Gln63Leu Multiple submitters androgen insensitivity syndrome ⚠
p.Glu289Lys Multiple submitters Kennedy disease ⚠
p.Gly462_Gly473del Multiple submitters androgen insensitivity syndrome
p.Leu446Trp Multiple submitters Inborn genetic diseases ⚠
p.Lys778Asn Multiple submitters androgen insensitivity syndrome ⚠
p.Pro342Leu Multiple submitters prostate cancer ⚠
p.Pro683Ser Multiple submitters androgen insensitivity syndrome ⚠
p.Tyr408Cys Multiple submitters male infertility ⚠
c.1616+22263G>A Single submitter partial androgen insensitivity syndrome
c.1616+3A>C Single submitter
c.1768+3A>G Single submitter Kennedy disease
c.1769-13T>G Single submitter Kennedy disease
c.1769-18_1769-17del Single submitter
c.1769-3C>A Single submitter Kennedy disease
c.1885+3718A>G Single submitter prostate cancer
c.2173+13G>T Single submitter
c.2318+5G>T Single submitter androgen insensitivity syndrome
c.2449+3A>G Single submitter Kennedy disease
c.2449+5G>A Single submitter androgen insensitivity syndrome
c.2450-22T>G Single submitter androgen insensitivity syndrome
c.2608-1_2609dup Single submitter androgen insensitivity syndrome
p.Ala151Glu Single submitter Inborn genetic diseases ⚠
p.Ala217Thr Single submitter Kennedy disease ⚠
p.Ala242Val Single submitter androgen insensitivity syndrome ⚠
p.Ala253Gly Single submitter Inborn genetic diseases ⚠
p.Ala270Asp Single submitter Kennedy disease ⚠
p.Ala299Thr Single submitter ⚠
p.Ala331Asp Single submitter Inborn genetic diseases ⚠
p.Ala358Glu Single submitter Inborn genetic diseases ⚠
p.Ala385Ser Single submitter androgen insensitivity syndrome ⚠
p.Ala477Pro Single submitter Inborn genetic diseases ⚠
p.Ala680Gly Single submitter Kennedy disease ⚠
p.Ala766Val Single submitter Kennedy disease ⚠
p.Ala810Val Single submitter ⚠
p.Arg13Gly Single submitter Inborn genetic diseases ⚠
p.Arg20Gln Single submitter Inborn genetic diseases ⚠
p.Arg264Trp Single submitter Kennedy disease ⚠
p.Arg280Ser Single submitter ⚠
p.Arg362Gly Single submitter Inborn genetic diseases ⚠
p.Arg630Gln Single submitter androgen insensitivity syndrome ⚠
p.Arg727His Single submitter Kennedy disease ⚠
p.Arg775Gly Single submitter Kennedy disease ⚠
p.Arg780Gln Single submitter partial androgen insensitivity syndrome ⚠
p.Arg787Pro Single submitter Kennedy disease ⚠
p.Arg841Ser Single submitter partial androgen insensitivity syndrome ⚠
p.Asn235Asp Single submitter ⚠
p.Asn366Lys Single submitter ⚠
p.Asn693Ile Single submitter partial androgen insensitivity syndrome ⚠
p.Asn728Asp Single submitter Inborn genetic diseases ⚠
p.Asn834Lys Single submitter androgen insensitivity syndrome ⚠
p.Asp154Glu Single submitter ⚠
p.Asp156Gly Single submitter ⚠
p.Asp223Asn Single submitter partial androgen insensitivity syndrome ⚠
p.Asp266Asn Single submitter ⚠
p.Asp266His Single submitter Inborn genetic diseases ⚠
p.Asp551Gly Single submitter ⚠
p.Asp565His Single submitter androgen insensitivity syndrome ⚠
p.Asp691Asn Single submitter Inborn genetic diseases ⚠
p.Asp820Gly Single submitter ⚠
p.Asp880Val Single submitter androgen insensitivity syndrome ⚠
p.Asp94Tyr Single submitter AR-related disorder ⚠
p.Cys327Tyr Single submitter Kennedy disease ⚠
p.Cys563Arg Single submitter androgen insensitivity syndrome ⚠
p.Cys563Ser Single submitter ⚠
p.Cys580Ser Single submitter Kennedy disease ⚠
p.Cys620Tyr Single submitter androgen insensitivity syndrome ⚠
p.Gln120Glu Single submitter ⚠
p.Gln58_Gln59delinsLeu Single submitter androgen insensitivity syndrome
p.Gln65Leu Single submitter ⚠
p.Gln66Leu Single submitter Inborn genetic diseases ⚠
p.Gln68_Gln80dup Single submitter androgen insensitivity syndrome
p.Gln734Arg Single submitter partial androgen insensitivity syndrome ⚠
p.Gln75Arg Single submitter ⚠
p.Gln803Leu Single submitter Kennedy disease ⚠
p.Gln88Leu Single submitter Inborn genetic diseases ⚠
p.Glu289Gly Single submitter Inborn genetic diseases ⚠
p.Glu2Gly Single submitter androgen insensitivity syndrome ⚠
p.Glu43Gln Single submitter Inborn genetic diseases ⚠
p.Glu442Val Single submitter Kennedy disease ⚠
p.Glu474del Single submitter Kennedy disease
p.Glu679Asp Single submitter androgen insensitivity syndrome ⚠
p.Glu707Asp Single submitter androgen insensitivity syndrome
p.Glu773Val Single submitter androgen insensitivity syndrome ⚠
p.Glu794Asp Single submitter androgen insensitivity syndrome ⚠
p.Glu93Lys Single submitter male infertility ⚠
p.Gly209Arg Single submitter ⚠
p.Gly228Cys Single submitter ⚠
p.Gly250Val Single submitter androgen insensitivity syndrome ⚠
p.Gly337Arg Single submitter ⚠
p.Gly396Ser Single submitter ⚠
p.Gly416Ser Single submitter Inborn genetic diseases ⚠
p.Gly444Ala Single submitter Inborn genetic diseases ⚠
p.Gly455Asp Single submitter Inborn genetic diseases ⚠
p.Gly463_Gly473del Single submitter Kennedy disease
p.Gly468Arg Single submitter Inborn genetic diseases
p.Gly507Asp Single submitter
p.Gly51Ser Single submitter Inborn genetic diseases ⚠
p.Gly590Val Single submitter ⚠
p.Gly667Asp Single submitter Inborn genetic diseases
p.Gly709Arg Single submitter androgen insensitivity syndrome ⚠
p.His382Tyr Single submitter ⚠
p.His415Arg Single submitter male infertility ⚠
p.His690Asn Single submitter androgen insensitivity syndrome ⚠
p.His715Asn Single submitter
p.His790Gln Single submitter
p.His875Arg Single submitter androgen insensitivity syndrome ⚠
p.His886Tyr Single submitter Kennedy disease
p.His918fs Single submitter androgen insensitivity syndrome
p.Ile34Asn Single submitter Inborn genetic diseases ⚠
p.Ile665Thr Single submitter androgen insensitivity syndrome ⚠
p.Ile681Thr Single submitter androgen insensitivity syndrome ⚠
p.Ile817= Single submitter
p.Ile836Ser Single submitter androgen insensitivity syndrome ⚠
p.Ile899Asn Single submitter Kennedy disease ⚠
p.Ile915Asn Single submitter Kennedy disease ⚠
p.Leu295Pro Single submitter ⚠
p.Leu325Pro Single submitter Inborn genetic diseases ⚠
p.Leu347Arg Single submitter androgen insensitivity syndrome ⚠
p.Leu540Phe Single submitter Inborn genetic diseases ⚠
p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGlnGln Single submitter Kennedy disease
p.Leu57_Gln58insLeuGlnGlnGlnGln Single submitter androgen insensitivity syndrome
p.Leu57_Gln58insLeuGlnGlnGlnGlnGln Single submitter
p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln Single submitter Kennedy disease
p.Leu57_Gln59del Single submitter
p.Leu729Ser Single submitter Kennedy disease ⚠
p.Leu791Ile Single submitter ⚠
p.Leu798Ile Single submitter Kennedy disease ⚠
p.Leu813Phe Single submitter androgen insensitivity syndrome ⚠
p.Leu822Gln Single submitter Kennedy disease ⚠
p.Leu822Val Single submitter Kennedy disease ⚠
p.Leu881Val Single submitter androgen insensitivity syndrome ⚠
p.Lys182Thr Single submitter ⚠
p.Lys313Glu Single submitter male infertility ⚠
p.Lys826Asn Single submitter Inborn genetic diseases ⚠
p.Lys906Glu Single submitter Kennedy disease ⚠
p.Met524Ile Single submitter Inborn genetic diseases ⚠
p.Met746Leu Single submitter androgen insensitivity syndrome ⚠
p.Met776Thr Single submitter androgen insensitivity syndrome ⚠
p.Met788Arg Single submitter Kennedy disease ⚠
p.Phe674Ser Single submitter androgen insensitivity syndrome ⚠
p.Phe771Leu Single submitter Kennedy disease ⚠
p.Phe795Ile Single submitter ⚠
p.Phe795Val Single submitter androgen insensitivity syndrome ⚠
p.Phe877Leu Single submitter androgen insensitivity syndrome ⚠
p.Phe892Val Single submitter androgen insensitivity syndrome ⚠
p.Pro119Ser Single submitter Inborn genetic diseases ⚠
p.Pro283Ser Single submitter androgen insensitivity syndrome ⚠
p.Pro342Gln Single submitter Inborn genetic diseases ⚠
p.Pro342Ser Single submitter Inborn genetic diseases ⚠
p.Pro375Ser Single submitter Kennedy disease ⚠
p.Pro381Ser Single submitter male infertility ⚠
p.Pro392Leu Single submitter ⚠
p.Pro422Ala Single submitter Inborn genetic diseases ⚠
p.Pro487Thr Single submitter Inborn genetic diseases ⚠
p.Pro513Ser Single submitter ⚠
p.Pro515Ala Single submitter Inborn genetic diseases ⚠
p.Pro549Ser Single submitter hypospadias 1, X-linked ⚠
p.Pro652Ala Single submitter Inborn genetic diseases ⚠
p.Pro818Ser Single submitter androgen insensitivity syndrome ⚠
p.Pro850Ala Single submitter androgen insensitivity syndrome
p.Pro893Gln Single submitter androgen insensitivity syndrome ⚠
p.Pro914Arg Single submitter androgen insensitivity syndrome ⚠
p.Pro914His Single submitter androgen insensitivity syndrome ⚠
p.Ser165Thr Single submitter Inborn genetic diseases ⚠
p.Ser328Cys Single submitter Kennedy disease ⚠
p.Ser335Arg Single submitter male infertility
p.Ser343Phe Single submitter Inborn genetic diseases ⚠
p.Ser346Phe Single submitter Inborn genetic diseases ⚠
p.Ser598Ile Single submitter androgen insensitivity syndrome ⚠
p.Ser760Tyr Single submitter Kennedy disease ⚠
p.Ser779Phe Single submitter ⚠
p.Ser783Gly Single submitter Kennedy disease ⚠
p.Ser885Pro Single submitter Kennedy disease ⚠
p.Ser889Ile Single submitter androgen insensitivity syndrome ⚠
p.Ser901Phe Single submitter Kennedy disease ⚠
p.Ser909Phe Single submitter androgen insensitivity syndrome ⚠
p.Thr163Ala Single submitter ⚠
p.Thr170Ala Single submitter ⚠
p.Thr317Ala Single submitter androgen insensitivity syndrome ⚠
p.Thr878Asn Single submitter ⚠
p.Tyr359Phe Single submitter Kennedy disease ⚠
p.Tyr481Cys Single submitter androgen insensitivity syndrome ⚠
p.Tyr572Asp Single submitter androgen insensitivity syndrome ⚠
p.Tyr572Phe Single submitter Kennedy disease ⚠
p.Tyr764Phe Single submitter ⚠
p.Tyr782Cys Single submitter Kennedy disease ⚠
p.Tyr835Phe Single submitter ⚠
p.Val10Gly Single submitter Inborn genetic diseases ⚠
p.Val30Met Single submitter ⚠
p.Val478Ala Single submitter Inborn genetic diseases ⚠
p.Val582Asp Single submitter Kennedy disease ⚠
p.Val717del Single submitter Kennedy disease
p.Val737Phe Single submitter Kennedy disease ⚠
p.Val890Ala Single submitter Kennedy disease ⚠
p.Val902Ala Single submitter Inborn genetic diseases ⚠
p.Arg485Trp No assertion criteria androgen insensitivity syndrome ⚠
p.Asp297Asn No assertion criteria androgen insensitivity syndrome ⚠
p.Glu643Lys No assertion criteria
p.Glu838Lys No assertion criteria androgen insensitivity syndrome ⚠
p.Gly473_Glu474insGlyGlyGlyGlyGlyGly No assertion criteria AR-related disorder
p.Pro172Leu No assertion criteria androgen insensitivity syndrome ⚠
p.Thr878Ile No assertion criteria androgen insensitivity syndrome ⚠
p.Val770Gly No assertion criteria androgen insensitivity syndrome ⚠