AHRR — 142 ClinVar variants
All ClinVar germline AHRR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
1 Benign · 17 Likely benign · 124 Uncertain significance
Full AHRR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 lean, ClinVar uncertain 106
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AHRR p.Ala194Val Uncertain significance Single submitter
- AHRR p.Ala24Thr Uncertain significance Single submitter
- AHRR p.Ala300Val Uncertain significance Single submitter
- AHRR p.Ala341Thr Uncertain significance Single submitter
- AHRR p.Ala349Gly Uncertain significance Single submitter
- AHRR p.Ala351Val Uncertain significance Single submitter
- AHRR p.Ala42Gly Uncertain significance Single submitter
- AHRR p.Ala459Thr Uncertain significance Single submitter
- AHRR p.Ala545Gly Uncertain significance Single submitter
- AHRR p.Ala557Val Uncertain significance Single submitter
- AHRR p.Ala594Ser Uncertain significance Single submitter
- AHRR p.Ala683Ser Uncertain significance Single submitter
- AHRR p.Ala92Thr Uncertain significance Single submitter
- AHRR p.Ala92Val Uncertain significance Single submitter
- AHRR p.Ala95Thr Uncertain significance Single submitter
- AHRR p.Arg15Lys Uncertain significance Single submitter
- AHRR p.Arg164Cys Uncertain significance Single submitter
- AHRR p.Arg198Trp Uncertain significance Single submitter
- AHRR p.Arg357Gln Uncertain significance Single submitter
- AHRR p.Arg357Trp Uncertain significance Single submitter
- AHRR p.Arg35Gln Uncertain significance Single submitter
- AHRR p.Arg373Gly Uncertain significance Single submitter
- AHRR p.Arg37Trp Uncertain significance Single submitter
- AHRR p.Arg390Trp Uncertain significance Single submitter
- AHRR p.Arg39His Uncertain significance Single submitter
- AHRR p.Arg39Leu Uncertain significance Single submitter
- AHRR p.Arg427His Uncertain significance Single submitter
- AHRR p.Arg427Leu Uncertain significance Single submitter
- AHRR p.Arg499Cys Uncertain significance Single submitter
- AHRR p.Arg579Gln Uncertain significance Single submitter
- AHRR p.Arg592Trp Uncertain significance Single submitter
- AHRR p.Arg637Gln Uncertain significance Single submitter
- AHRR p.Arg639Gln Uncertain significance Single submitter
- AHRR p.Arg639Gly Uncertain significance Single submitter
- AHRR p.Arg657Gln Uncertain significance Single submitter
- AHRR p.Arg657Trp Uncertain significance Single submitter
- AHRR p.Arg75Trp Uncertain significance Single submitter
- AHRR p.Asp521Tyr Uncertain significance Single submitter
- AHRR p.Asp538Ala Uncertain significance Single submitter
- AHRR p.Asp538Glu Uncertain significance Single submitter
- AHRR p.Cys168Arg Uncertain significance Single submitter
- AHRR p.Cys223Tyr Uncertain significance Single submitter
- AHRR p.Cys355Gly Uncertain significance Single submitter
- AHRR p.Cys646Arg Uncertain significance Single submitter
- AHRR p.Gln346Lys Uncertain significance Single submitter
- AHRR p.Glu629Lys Uncertain significance Single submitter
- AHRR p.Glu641Lys Uncertain significance Single submitter
- AHRR p.Gly106Glu Uncertain significance Single submitter
- AHRR p.Gly26Arg Uncertain significance Single submitter
- AHRR p.Gly411Asp Uncertain significance Single submitter
- AHRR p.Gly442Asp Uncertain significance Single submitter
- AHRR p.Gly590Ser Uncertain significance Single submitter
- AHRR p.Gly624Arg Uncertain significance Single submitter
- AHRR p.Gly640Ser Uncertain significance Single submitter
- AHRR p.Gly692Arg Uncertain significance Single submitter
- AHRR p.His316Pro Uncertain significance Single submitter
- AHRR p.His482Leu Uncertain significance Single submitter
- AHRR p.His490Tyr Uncertain significance Single submitter
- AHRR p.His586Arg Uncertain significance Single submitter
- AHRR p.His597Gln Uncertain significance Single submitter
- AHRR p.His615Arg Uncertain significance Single submitter
- AHRR p.Ile449Met Uncertain significance Single submitter
- AHRR p.Leu104Pro Uncertain significance Single submitter
- AHRR p.Leu104Val Uncertain significance Single submitter
- AHRR p.Leu260Phe Uncertain significance Single submitter
- AHRR p.Leu356His Uncertain significance Single submitter
- AHRR p.Leu40His Uncertain significance Single submitter
- AHRR p.Leu522Met Uncertain significance Single submitter
- AHRR p.Leu696Arg Uncertain significance Single submitter
- AHRR p.Lys367Thr Uncertain significance Single submitter
- AHRR p.Met429Leu Uncertain significance Single submitter
- AHRR p.Met429Val Uncertain significance Single submitter
- AHRR p.Phe133Ile Uncertain significance Single submitter
- AHRR p.Phe182Leu Uncertain significance Single submitter
- AHRR p.Phe695Val Uncertain significance Single submitter
- AHRR p.Pro261Leu Uncertain significance Single submitter
- AHRR p.Pro366Ser Uncertain significance Single submitter
- AHRR p.Pro396Thr Uncertain significance Single submitter
- AHRR p.Pro436Leu Uncertain significance Single submitter
- AHRR p.Pro438Leu Uncertain significance Single submitter
- AHRR p.Pro479Leu Uncertain significance Single submitter
- AHRR p.Pro495Leu Uncertain significance Single submitter
- AHRR p.Pro519Leu Uncertain significance Single submitter
- AHRR p.Pro576Gln Uncertain significance Single submitter
- AHRR p.Pro610Leu Uncertain significance Single submitter
- AHRR p.Pro626Leu Uncertain significance Single submitter
- AHRR p.Pro687Leu Uncertain significance Single submitter
- AHRR p.Ser101Asn Uncertain significance Single submitter
- AHRR p.Ser265Thr Uncertain significance Single submitter
- AHRR p.Ser285Gly Uncertain significance Single submitter
- AHRR p.Ser313Leu Uncertain significance Single submitter
- AHRR p.Ser461Phe Uncertain significance Single submitter
- AHRR p.Ser628Leu Uncertain significance Single submitter
- AHRR p.Ser691Leu Uncertain significance Single submitter
- AHRR p.Thr131Ser Uncertain significance Single submitter
- AHRR p.Thr209Met Uncertain significance Single submitter
- AHRR p.Thr397Arg Uncertain significance Single submitter
- AHRR p.Val109Met Uncertain significance Single submitter
- AHRR p.Val140Met Uncertain significance Single submitter
- AHRR p.Val25Met Uncertain significance Single submitter
- AHRR p.Val332Phe Uncertain significance Single submitter
- AHRR p.Val347Gly Uncertain significance Single submitter
- AHRR p.Val515Gly Uncertain significance Single submitter
- AHRR p.Val582Met Uncertain significance Single submitter
- AHRR p.Val66Ile Uncertain significance Single submitter
- AHRR p.Val83Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- AHRR p.Arg12Gln Uncertain significance Single submitter
- AHRR p.Arg263Trp Uncertain significance Single submitter
- AHRR p.Glu212Lys Uncertain significance Single submitter
- AHRR p.His172Gln Uncertain significance Single submitter
- AHRR p.Met281Lys Uncertain significance Single submitter
- AHRR p.Phe216Leu Uncertain significance Single submitter
- AHRR p.Ser30Pro Uncertain significance Single submitter
All AHRR variants
Benign 1
- p.Arg453Cys Multiple submitters
Likely benign 17
- p.Ala278Thr Single submitter
- p.Ala652Thr Single submitter
- p.Asn320Ser Single submitter
- p.Asp340= Single submitter
- p.Gly603Arg Single submitter
- p.His316Arg Single submitter
- p.Leu236= Single submitter
- p.Pro414Leu Single submitter
- p.Pro423Leu Single submitter
- p.Pro438= Single submitter
- p.Pro452= Single submitter
- p.Pro477= Single submitter
- p.Ser327= Single submitter
- p.Ser447Leu Single submitter
- p.Thr131Met Single submitter
- p.Thr138= Single submitter
- p.Thr667Ala Single submitter
Uncertain significance 124
- c.709-131C>G Single submitter
- c.709-143C>T Single submitter
- c.709-147G>T Single submitter
- c.709-166G>A Single submitter
- c.709-167C>T Single submitter
- p.Ala194Val Single submitter ⚠
- p.Ala24Thr Single submitter ⚠
- p.Ala300Val Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Ala349Gly Single submitter ⚠
- p.Ala351Val Single submitter ⚠
- p.Ala42Gly Single submitter ⚠
- p.Ala459Thr Single submitter ⚠
- p.Ala545Gly Single submitter ⚠
- p.Ala557Val Single submitter ⚠
- p.Ala594Ser Single submitter ⚠
- p.Ala683Ser Single submitter ⚠
- p.Ala92Thr Single submitter ⚠
- p.Ala92Val Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Arg12Gln Single submitter ⚠
- p.Arg15Lys Single submitter ⚠
- p.Arg164Cys Single submitter ⚠
- p.Arg198Trp Single submitter ⚠
- p.Arg263Trp Single submitter ⚠
- p.Arg357Gln Single submitter ⚠
- p.Arg357Trp Single submitter ⚠
- p.Arg35Gln Single submitter ⚠
- p.Arg373Gly Single submitter ⚠
- p.Arg37Trp Single submitter ⚠
- p.Arg390Trp Single submitter ⚠
- p.Arg39His Single submitter ⚠
- p.Arg39Leu Single submitter ⚠
- p.Arg427His Single submitter ⚠
- p.Arg427Leu Single submitter ⚠
- p.Arg499Cys Single submitter ⚠
- p.Arg579Gln Single submitter ⚠
- p.Arg592Trp Single submitter ⚠
- p.Arg637Gln Single submitter ⚠
- p.Arg639Gln Single submitter ⚠
- p.Arg639Gly Single submitter ⚠
- p.Arg657Gln Single submitter ⚠
- p.Arg657Trp Single submitter ⚠
- p.Arg75Trp Single submitter ⚠
- p.Asp521Tyr Single submitter ⚠
- p.Asp538Ala Single submitter ⚠
- p.Asp538Glu Single submitter ⚠
- p.Cys168Arg Single submitter ⚠
- p.Cys223Tyr Single submitter ⚠
- p.Cys355Gly Single submitter ⚠
- p.Cys646Arg Single submitter ⚠
- p.Gln346Lys Single submitter ⚠
- p.Glu212Lys Single submitter ⚠
- p.Glu536Lys Single submitter
- p.Glu629Lys Single submitter ⚠
- p.Glu641Lys Single submitter ⚠
- p.Gly106Glu Single submitter ⚠
- p.Gly26Arg Single submitter ⚠
- p.Gly411Asp Single submitter ⚠
- p.Gly442Asp Single submitter ⚠
- p.Gly590Ser Single submitter ⚠
- p.Gly624Arg Single submitter ⚠
- p.Gly640Ser Single submitter ⚠
- p.Gly692Arg Single submitter ⚠
- p.His172Gln Single submitter ⚠
- p.His316Pro Single submitter ⚠
- p.His482Leu Single submitter ⚠
- p.His490Tyr Single submitter ⚠
- p.His586Arg Single submitter ⚠
- p.His597Gln Single submitter ⚠
- p.His615Arg Single submitter ⚠
- p.Ile449Met Single submitter ⚠
- p.Leu104Pro Single submitter ⚠
- p.Leu104Val Single submitter ⚠
- p.Leu260Phe Single submitter ⚠
- p.Leu356His Single submitter ⚠
- p.Leu40His Single submitter ⚠
- p.Leu522Met Single submitter ⚠
- p.Leu696Arg Single submitter ⚠
- p.Lys367Thr Single submitter ⚠
- p.Met281Lys Single submitter ⚠
- p.Met429Leu Single submitter ⚠
- p.Met429Val Single submitter ⚠
- p.Phe133Ile Single submitter ⚠
- p.Phe182Leu Single submitter ⚠
- p.Phe216Leu Single submitter ⚠
- p.Phe695Val Single submitter ⚠
- p.Pro261Leu Single submitter ⚠
- p.Pro262Gln Single submitter
- p.Pro366Ser Single submitter ⚠
- p.Pro396Thr Single submitter ⚠
- p.Pro436Leu Single submitter ⚠
- p.Pro438Leu Single submitter ⚠
- p.Pro479Leu Single submitter ⚠
- p.Pro495Leu Single submitter ⚠
- p.Pro519Leu Single submitter ⚠
- p.Pro576Gln Single submitter ⚠
- p.Pro610Leu Single submitter ⚠
- p.Pro626Leu Single submitter ⚠
- p.Pro687Leu Single submitter ⚠
- p.Ser101Asn Single submitter ⚠
- p.Ser233Leu Single submitter
- p.Ser265Thr Single submitter ⚠
- p.Ser285Gly Single submitter ⚠
- p.Ser30Pro Single submitter ⚠
- p.Ser313Leu Single submitter ⚠
- p.Ser461Phe Single submitter ⚠
- p.Ser628Leu Single submitter ⚠
- p.Ser691Leu Single submitter ⚠
- p.Thr131Ser Single submitter ⚠
- p.Thr138Met Single submitter
- p.Thr209Met Single submitter ⚠
- p.Thr397Arg Single submitter ⚠
- p.Trp665Cys Single submitter
- p.Val109Met Single submitter ⚠
- p.Val140Met Single submitter ⚠
- p.Val25Met Single submitter ⚠
- p.Val332Phe Single submitter ⚠
- p.Val347Gly Single submitter ⚠
- p.Val515Gly Single submitter ⚠
- p.Val582Met Single submitter ⚠
- p.Val66Ile Single submitter ⚠
- p.Val83Met Single submitter ⚠
- c.1113-1G>A No assertion criteria