AVPR2 — 382 ClinVar variants
All ClinVar germline AVPR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
57 Pathogenic · 12 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 19 Conflicting · 24 Benign · 13 Benign/Likely benign · 124 Likely benign · 97 Uncertain significance
Full AVPR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AVPR2 p.Arg202Cys
Pathogenic/Likely pathogenic
Multiple submitters
Renal tubulopathies
-
AVPR2 p.Arg203Cys
Likely pathogenic
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Phe229Val
Likely pathogenic
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Gly185Cys
Pathogenic
No assertion criteria
diabetes insipidus, nephrogenic, X-linked
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- AVPR2 p.Ala305Thr Conflicting Single submitter
-
AVPR2 p.Arg143His
Conflicting
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Cys192Ser
Conflicting
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Gly245Ala
Conflicting
Single submitter
Inborn genetic diseases
-
AVPR2 p.Val162Ala
Conflicting
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Val266Ala
Conflicting
Single submitter
nephrogenic syndrome of inappropriate antidiuresis
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AVPR2 p.Arg113Leu
Uncertain significance
Multiple submitters
AVPR2-related disorder
-
AVPR2 p.Arg149His
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Ile78Thr
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Leu168Arg
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Phe229Ile Uncertain significance Multiple submitters
-
AVPR2 p.Pro244Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AVPR2 p.Pro349Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AVPR2 p.Tyr117His Uncertain significance Multiple submitters
-
AVPR2 p.Ala179Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AVPR2 p.Ala210Ser Uncertain significance Single submitter
- AVPR2 p.Ala216Glu Uncertain significance Single submitter
-
AVPR2 p.Ala60Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AVPR2 p.Ala84Pro Uncertain significance Single submitter
-
AVPR2 p.Arg27Ser
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg32Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- AVPR2 p.Asp85Glu Uncertain significance Single submitter
- AVPR2 p.Asp85Gly Uncertain significance Single submitter
-
AVPR2 p.Cys112Arg
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Cys112Tyr
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Cys192Gly Uncertain significance Single submitter
- AVPR2 p.Cys283Trp Uncertain significance Single submitter
- AVPR2 p.Cys82Arg Uncertain significance Single submitter
- AVPR2 p.Gln119Arg Uncertain significance Single submitter
- AVPR2 p.Gln225Pro Uncertain significance Single submitter
- AVPR2 p.Gln92Pro Uncertain significance Single submitter
-
AVPR2 p.Glu198Val
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Glu231Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AVPR2 p.Glu26Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- AVPR2 p.Gly122Asp Uncertain significance Single submitter
-
AVPR2 p.Gly151Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AVPR2 p.Gly220Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AVPR2 p.Gly239Arg Uncertain significance Single submitter
- AVPR2 p.Gly246Arg Uncertain significance Single submitter
-
AVPR2 p.Ile46Thr
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Leu135Pro Uncertain significance Single submitter
-
AVPR2 p.Leu292Gln
Uncertain significance
Single submitter
nephrogenic syndrome of inappropriate antidiuresis
- AVPR2 p.Leu316Arg Uncertain significance Single submitter
-
AVPR2 p.Met129Arg
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Pro11Ala
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Pro173Leu Uncertain significance Single submitter
-
AVPR2 p.Pro217Ser
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Pro306Ser Uncertain significance Single submitter
-
AVPR2 p.Pro348Ala
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Ser126Phe Uncertain significance Single submitter
-
AVPR2 p.Ser241Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AVPR2 p.Thr269Ile
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Trp296Arg
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Trp296Leu Uncertain significance Single submitter
- AVPR2 p.Val160Leu Uncertain significance Single submitter
-
AVPR2 p.Val183Met
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Val93Ala
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg344Trp
Uncertain significance
No assertion criteria
AVPR2-related disorder
-
AVPR2 p.Leu289Gln
Uncertain significance
No assertion criteria
AVPR2-related disorder
-
AVPR2 p.Tyr124Ser
Uncertain significance
No assertion criteria
AVPR2-related disorder
Predictors split 58
The independent predictors disagree with each other — read with care.
-
AVPR2 p.Arg104Cys
Likely pathogenic
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg139His
Benign
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg149Cys
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg181Cys
Pathogenic
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Arg181His Likely benign Multiple submitters
-
AVPR2 p.Arg247His
Benign/Likely benign
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg252Trp
Benign/Likely benign
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg337Gln
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg67Gln
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Met120Thr
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Val215Met
Benign
Multiple submitters
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Ala114Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AVPR2 p.Ala179Val
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Ala295Thr
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Ala300Pro
Likely benign
Single submitter
Inborn genetic diseases
-
AVPR2 p.Ala305Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AVPR2 p.Ala314Val
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg106Cys
Conflicting
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg143Cys
Uncertain significance
Single submitter
nephrogenic diabetes insipidus
-
AVPR2 p.Arg158Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AVPR2 p.Arg230Gln
Conflicting
Single submitter
Inborn genetic diseases
-
AVPR2 p.Arg247Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AVPR2 p.Arg248Cys
Conflicting
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg251Cys
Likely benign
Single submitter
Inborn genetic diseases
-
AVPR2 p.Arg251His
Likely benign
Single submitter
Inborn genetic diseases
-
AVPR2 p.Arg252Gln
Likely benign
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Arg344Gln
Conflicting
Single submitter
Inborn genetic diseases
- AVPR2 p.Arg64Trp Likely benign Single submitter
-
AVPR2 p.Arg65Gln
Likely benign
Single submitter
Inborn genetic diseases
-
AVPR2 p.Arg65Trp
Conflicting
Single submitter
nephrogenic syndrome of inappropriate antidiuresis
- AVPR2 p.Arg68Gln Benign Single submitter
- AVPR2 p.Arg68Trp Uncertain significance Single submitter
- AVPR2 p.Asp103Asn Uncertain significance Single submitter
-
AVPR2 p.Asp30Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AVPR2 p.Gln174Glu
Likely pathogenic
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Gly153Glu
Likely benign
Single submitter
Inborn genetic diseases
-
AVPR2 p.Gly246Glu
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Gly250Glu Benign Single submitter
- AVPR2 p.Leu111Pro Uncertain significance Single submitter
-
AVPR2 p.Leu340Phe
Conflicting
Single submitter
Inborn genetic diseases
- AVPR2 p.Leu36Pro Uncertain significance Single submitter
- AVPR2 p.Met133Leu Uncertain significance Single submitter
- AVPR2 p.Pro159Leu Likely benign Single submitter
- AVPR2 p.Pro199Ser Uncertain significance Single submitter
-
AVPR2 p.Pro34Leu
Conflicting
Single submitter
Inborn genetic diseases
- AVPR2 p.Ser315Cys Uncertain significance Single submitter
-
AVPR2 p.Ser357Phe
Conflicting
Single submitter
Inborn genetic diseases
-
AVPR2 p.Thr134Met
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Thr359Ile
Conflicting
Single submitter
Inborn genetic diseases
- AVPR2 p.Val213Gly Uncertain significance Single submitter
-
AVPR2 p.Val262Met
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Val270Gly
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
- AVPR2 p.Val275Met Uncertain significance Single submitter
- AVPR2 p.Val277Gly Uncertain significance Single submitter
- AVPR2 p.Val279Ile Uncertain significance Single submitter
-
AVPR2 p.Val332Met
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Val76Ile
Likely benign
Single submitter
diabetes insipidus, nephrogenic, X-linked
-
AVPR2 p.Ile46Lys
Pathogenic
No assertion criteria
diabetes insipidus, nephrogenic, X-linked
All AVPR2 variants
Pathogenic 57
- p.Arg113Trp Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Arg137Cys Multiple submitters nephrogenic syndrome of inappropriate antidiuresis
- p.Arg137His Multiple submitters nephrogenic diabetes insipidus
- p.Arg181Cys Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg247fs Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Arg337Ter Multiple submitters nephrogenic syndrome of inappropriate antidiuresis
- p.Asp85Asn Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ile46fs Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Val51fs Multiple submitters nephrogenic diabetes insipidus
- p.Val88Met Multiple submitters diabetes insipidus, nephrogenic, X-linked
- c.911-1G>A Single submitter
- c.911-2A>C Single submitter
- c.911-2A>G Single submitter
- p.Ala101fs Single submitter
- p.Ala114_Val115insTer Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Arg143delinsTrpTrpAlaCysMetProProProThrTer Single submitter
- p.Gln291Ter Single submitter
- p.Glu231Ter Single submitter
- p.Gly257_Glu258insTer Single submitter diabetes insipidus, nephrogenic, X-linked
- p.His80Tyr Single submitter
- p.Ile221fs Single submitter Inborn genetic diseases
- p.Leu111fs Single submitter
- p.Leu131Pro Single submitter
- p.Leu16fs Single submitter AVPR2-related disorder
- p.Leu274Pro Single submitter
- p.Leu312Ter Single submitter
- p.Phe178fs Single submitter
- p.Pro144fs Single submitter
- p.Pro286Ser Single submitter
- p.Pro322Ser Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ser255fs Single submitter
- p.Trp156Ter Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Trp164Ter Single submitter Renal tubulopathies
- p.Trp193Ter Single submitter
- p.Trp284Ter Single submitter
- p.Trp293Ter Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Trp296Ter Single submitter
- p.Trp71Ter Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Trp99Ter Single submitter
- p.Tyr117fs Single submitter
- p.Tyr148fs Single submitter
- p.Tyr205fs Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Tyr280Cys Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Tyr280fs Single submitter nephrogenic diabetes insipidus
- p.Val270fs Single submitter AVPR2-related disorder
- c.910+1G>A No assertion criteria
- p.Ala132Asp No assertion criteria diabetes insipidus, nephrogenic, X-linked
- p.Ala9fs No assertion criteria diabetes insipidus, nephrogenic, X-linked
- p.Arg137Leu No assertion criteria nephrogenic syndrome of inappropriate antidiuresis
- p.Gly185Cys No assertion criteria diabetes insipidus, nephrogenic, X-linked ⚠
- p.Gly201Asp No assertion criteria diabetes insipidus, nephrogenic, X-linked
- p.Ile130Phe No assertion criteria diabetes insipidus, nephrogenic, X-linked
- p.Ile228fs No assertion criteria diabetes insipidus, nephrogenic, X-linked
- p.Ile46Lys No assertion criteria diabetes insipidus, nephrogenic, X-linked ⚠
- p.Leu35fs No assertion criteria diabetes insipidus, nephrogenic, X-linked
- p.Phe105Val No assertion criteria diabetes insipidus, nephrogenic, X-linked
- p.Trp323fs No assertion criteria diabetes insipidus, nephrogenic, X-linked
Pathogenic/Likely pathogenic 12
- p.Arg158fs Multiple submitters nephrogenic diabetes insipidus
- p.Arg202Cys Multiple submitters Renal tubulopathies ⚠
- p.Gly185fs Multiple submitters nephrogenic diabetes insipidus
- p.Leu44Phe Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Phe328fs Multiple submitters
- p.Pro322Leu Multiple submitters nephrogenic diabetes insipidus
- p.Ser167Leu Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ser171Arg Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Tyr128del Multiple submitters Inborn genetic diseases
- p.Tyr128Ser Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Tyr205Cys Multiple submitters AVPR2-related disorder
- p.Val279del Multiple submitters diabetes insipidus, nephrogenic, X-linked
Likely pathogenic 36
- p.Arg104Cys Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg251fs Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Gly107Glu Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Gly257fs Multiple submitters nephrogenic diabetes insipidus
- p.Ala285Pro Single submitter nephrogenic diabetes insipidus
- p.Arg137Gly Single submitter nephrogenic diabetes insipidus
- p.Arg203Cys Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Asn321Lys Single submitter nephrogenic diabetes insipidus
- p.Cys142fs Single submitter nephrogenic diabetes insipidus
- p.Gln174Glu Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Gln174His Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Gln225Ter Single submitter nephrogenic diabetes insipidus
- p.Gly201Cys Single submitter nephrogenic diabetes insipidus
- p.Gly220fs Single submitter
- p.Gly69fs Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ile177Asn Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Leu274del Single submitter nephrogenic diabetes insipidus
- p.Leu59Pro Single submitter nephrogenic diabetes insipidus
- p.Leu62Pro Single submitter nephrogenic syndrome of inappropriate antidiuresis
- p.Leu81Phe Single submitter
- p.Leu97Pro Single submitter nephrogenic diabetes insipidus
- p.Met272fs Single submitter nephrogenic syndrome of inappropriate antidiuresis
- p.Met272Ile Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Phe229Val Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Pro159fs Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Pro286Leu Single submitter Inborn genetic diseases
- p.Pro322Thr Single submitter nephrogenic diabetes insipidus
- p.Ser327fs Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Thr273Met Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Trp193fs Single submitter AVPR2-related disorder
- p.Trp323Arg Single submitter
- p.Trp99Arg Single submitter
- p.Val332fs Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ala154fs No assertion criteria AVPR2-related disorder
- p.Cys112Phe No assertion criteria diabetes insipidus, nephrogenic, X-linked
- p.Met272Val No assertion criteria diabetes insipidus, nephrogenic, X-linked
Conflicting classifications of pathogenicity 19
- p.64RRG[1] Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ala305Thr Single submitter ⚠
- p.Arg106Cys Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg143His Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg230Gln Single submitter Inborn genetic diseases ⚠
- p.Arg248Cys Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg249_Arg252del Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Arg344Gln Single submitter Inborn genetic diseases ⚠
- p.Arg65Trp Single submitter nephrogenic syndrome of inappropriate antidiuresis ⚠
- p.Cys192Ser Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Gly245Ala Single submitter Inborn genetic diseases ⚠
- p.Gly246= Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Leu340Phe Single submitter Inborn genetic diseases ⚠
- p.Pro34Leu Single submitter Inborn genetic diseases ⚠
- p.Ser23= Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ser357Phe Single submitter Inborn genetic diseases ⚠
- p.Thr359Ile Single submitter Inborn genetic diseases ⚠
- p.Val162Ala Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Val266Ala Single submitter nephrogenic syndrome of inappropriate antidiuresis ⚠
Benign 24
- c.25+118A>G Multiple submitters
- p.Ala147Val Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ala42Val Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ala60= Multiple submitters
- p.Arg106His Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Arg139His Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Asn182= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Gly12Glu Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Leu309= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Leu339= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ser331= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Thr7Ser Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Val215Met Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Val58= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- c.-153_-152insC Single submitter
- c.*204C>T Single submitter diabetes insipidus, nephrogenic, X-linked
- c.*257G>A Single submitter diabetes insipidus, nephrogenic, X-linked
- c.*320G>A Single submitter diabetes insipidus, nephrogenic, X-linked
- c.*326A>C Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ala294= Single submitter
- p.Arg104His Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Arg68Gln Single submitter ⚠
- p.Gly250Glu Single submitter ⚠
- p.Pro256= Single submitter
Benign/Likely benign 13
- c.26-6T>G Multiple submitters nephrogenic syndrome of inappropriate antidiuresis
- p.Ala147= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ala223Thr Multiple submitters Inborn genetic diseases
- p.Ala39= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ala4= Multiple submitters nephrogenic syndrome of inappropriate antidiuresis
- p.Ala42= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ala63= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Arg247His Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg252Trp Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Gly257Ser Multiple submitters Inborn genetic diseases
- p.Gly352Asp Multiple submitters Inborn genetic diseases
- p.Leu35= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ser371= Multiple submitters nephrogenic syndrome of inappropriate antidiuresis
Likely benign 124
- c.26-13G>A Multiple submitters
- c.911-13T>C Multiple submitters
- p.Ala84= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Ala87= Multiple submitters
- p.Arg158= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Arg181His Multiple submitters ⚠
- p.Asp297= Multiple submitters
- p.Ile221= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- p.Phe214= Multiple submitters
- p.Ser357= Multiple submitters
- c.25+11C>T Single submitter
- c.25+18A>G Single submitter
- c.26-13G>C Single submitter
- c.26-14C>T Single submitter
- c.26-20T>C Single submitter
- c.26-8C>T Single submitter
- c.910+12C>T Single submitter
- c.910+13G>A Single submitter
- c.910+14T>C Single submitter
- c.910+15G>C Single submitter
- c.910+16G>A Single submitter
- c.910+9A>G Single submitter
- c.911-13_911-11del Single submitter
- c.911-15C>T Single submitter
- c.911-8C>T Single submitter
- p.Ala114= Single submitter
- p.Ala125= Single submitter
- p.Ala140= Single submitter
- p.Ala194= Single submitter
- p.Ala197= Single submitter
- p.Ala222= Single submitter
- p.Ala285= Single submitter
- p.Ala295= Single submitter
- p.Ala300Pro Single submitter Inborn genetic diseases ⚠
- p.Ala305= Single submitter
- p.Ala305Val Single submitter
- p.Ala343= Single submitter
- p.Ala361Thr Single submitter
- p.Ala72= Single submitter
- p.Arg104= Single submitter
- p.Arg203= Single submitter
- p.Arg230= Single submitter
- p.Arg248= Single submitter
- p.Arg251Cys Single submitter Inborn genetic diseases ⚠
- p.Arg251Gly Single submitter
- p.Arg251His Single submitter Inborn genetic diseases ⚠
- p.Arg252Gln Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg32= Single submitter
- p.Arg38Gln Single submitter Inborn genetic diseases
- p.Arg64= Single submitter
- p.Arg64Trp Single submitter ⚠
- p.Arg65Gln Single submitter Inborn genetic diseases ⚠
- p.Asn55= Single submitter
- p.Asp191= Single submitter
- p.Cys82= Single submitter
- p.Gln354= Single submitter
- p.Glu231= Single submitter
- p.Glu258= Single submitter
- p.Gly12= Single submitter
- p.Gly153Glu Single submitter Inborn genetic diseases ⚠
- p.Gly201= Single submitter
- p.Gly304= Single submitter
- p.Gly69= Single submitter
- p.His150= Single submitter
- p.His233= Single submitter
- p.His261= Single submitter
- p.His75= Single submitter
- p.Ile141= Single submitter
- p.Ile276= Single submitter
- p.Ile324= Single submitter
- p.Leu135= Single submitter
- p.Leu161= Single submitter
- p.Leu172= Single submitter
- p.Leu175= Single submitter
- p.Leu219= Single submitter
- p.Leu236= Single submitter
- p.Leu282= Single submitter
- p.Leu292= Single submitter
- p.Leu302= Single submitter
- p.Leu310Phe Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Leu316= Single submitter
- p.Leu336= Single submitter
- p.Leu36= Single submitter
- p.Leu365= Single submitter
- p.Leu53= Single submitter
- p.Lys100= Single submitter
- p.Phe105= Single submitter
- p.Phe178= Single submitter
- p.Phe229= Single submitter
- p.Phe328= Single submitter
- p.Phe48= Single submitter
- p.Pro159= Single submitter
- p.Pro159Leu Single submitter ⚠
- p.Pro217= Single submitter
- p.Pro244Ala Single submitter Inborn genetic diseases
- p.Pro28= Single submitter
- p.Pro298= Single submitter
- p.Pro322= Single submitter
- p.Pro34= Single submitter
- p.Pro353= Single submitter
- p.Ser126= Single submitter
- p.Ser167= Single submitter
- p.Ser187= Single submitter
- p.Ser241= Single submitter
- p.Ser350= Single submitter
- p.Ser362= Single submitter
- p.Thr102= Single submitter
- p.Thr134= Single submitter
- p.Thr190= Single submitter
- p.Thr253= Single submitter
- p.Thr273= Single submitter
- p.Thr360= Single submitter
- p.Thr369= Single submitter
- p.Thr6= Single submitter
- p.Tyr205= Single submitter
- p.Tyr325= Single submitter
- p.Val189= Single submitter
- p.Val213= Single submitter
- p.Val270= Single submitter
- p.Val278= Single submitter
- p.Val76Ile Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Val88= Single submitter
- c.910+27C>T No assertion criteria AVPR2-related disorder
- c.910+28G>A No assertion criteria AVPR2-related disorder
Uncertain significance 97
- p.Arg113Leu Multiple submitters AVPR2-related disorder ⚠
- p.Arg149Cys Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg149His Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg337Gln Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg67Gln Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Ile78Thr Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Leu168Arg Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Met120Thr Multiple submitters diabetes insipidus, nephrogenic, X-linked ⚠
- p.Phe229Ile Multiple submitters ⚠
- p.Pro244Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro349Leu Multiple submitters Inborn genetic diseases ⚠
- p.Tyr117His Multiple submitters ⚠
- p.Val279= Multiple submitters diabetes insipidus, nephrogenic, X-linked
- c.910+6T>C Single submitter
- c.-48G>C Single submitter diabetes insipidus, nephrogenic, X-linked
- c.*119G>A Single submitter diabetes insipidus, nephrogenic, X-linked
- c.*129C>T Single submitter diabetes insipidus, nephrogenic, X-linked
- c.*136T>G Single submitter diabetes insipidus, nephrogenic, X-linked
- c.*190A>C Single submitter diabetes insipidus, nephrogenic, X-linked
- c.*282G>A Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ala114Thr Single submitter Inborn genetic diseases ⚠
- p.Ala179Thr Single submitter Inborn genetic diseases ⚠
- p.Ala179Val Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Ala210Ser Single submitter ⚠
- p.Ala216Glu Single submitter ⚠
- p.Ala267Ile Single submitter
- p.Ala295Thr Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Ala305Glu Single submitter Inborn genetic diseases ⚠
- p.Ala314Val Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Ala60Val Single submitter Inborn genetic diseases ⚠
- p.Ala84Pro Single submitter ⚠
- p.Arg143Cys Single submitter nephrogenic diabetes insipidus ⚠
- p.Arg158Gln Single submitter Inborn genetic diseases ⚠
- p.Arg247Cys Single submitter Inborn genetic diseases ⚠
- p.Arg27Ser Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg32Gln Single submitter Inborn genetic diseases ⚠
- p.Arg68Trp Single submitter ⚠
- p.Asp103Asn Single submitter ⚠
- p.Asp30Asn Single submitter Inborn genetic diseases ⚠
- p.Asp85Glu Single submitter ⚠
- p.Asp85Gly Single submitter ⚠
- p.Cys112Arg Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Cys112Tyr Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Cys192Gly Single submitter ⚠
- p.Cys283Trp Single submitter ⚠
- p.Cys82Arg Single submitter ⚠
- p.Gln119Arg Single submitter ⚠
- p.Gln225Pro Single submitter ⚠
- p.Gln92Pro Single submitter ⚠
- p.Glu198Val Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Glu231Gln Single submitter Inborn genetic diseases ⚠
- p.Glu26Gln Single submitter Inborn genetic diseases ⚠
- p.Gly122Asp Single submitter ⚠
- p.Gly151Arg Single submitter Inborn genetic diseases ⚠
- p.Gly220Val Single submitter Inborn genetic diseases ⚠
- p.Gly239Arg Single submitter ⚠
- p.Gly246Arg Single submitter ⚠
- p.Gly246Glu Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Gly254= Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ile177del Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ile46Thr Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Leu111Pro Single submitter ⚠
- p.Leu135Pro Single submitter ⚠
- p.Leu292Gln Single submitter nephrogenic syndrome of inappropriate antidiuresis ⚠
- p.Leu316Arg Single submitter ⚠
- p.Leu36Pro Single submitter ⚠
- p.Lys367Ter Single submitter
- p.Met129Arg Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Met133Leu Single submitter ⚠
- p.Pro11Ala Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Pro173Leu Single submitter ⚠
- p.Pro199Ser Single submitter ⚠
- p.Pro217Ser Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Pro306Ser Single submitter ⚠
- p.Pro348Ala Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Ser126Phe Single submitter ⚠
- p.Ser21_Asn22insLeuProSer Single submitter diabetes insipidus, nephrogenic, X-linked
- p.Ser241Thr Single submitter Inborn genetic diseases ⚠
- p.Ser315Cys Single submitter ⚠
- p.Ser8= Single submitter
- p.Thr134Met Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Thr269Ile Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Trp296Arg Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Trp296Leu Single submitter ⚠
- p.Val160Leu Single submitter ⚠
- p.Val183Met Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Val213Gly Single submitter ⚠
- p.Val262Met Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Val270Gly Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Val275Met Single submitter ⚠
- p.Val277Gly Single submitter ⚠
- p.Val279Ile Single submitter ⚠
- p.Val332Met Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Val93Ala Single submitter diabetes insipidus, nephrogenic, X-linked ⚠
- p.Arg344Trp No assertion criteria AVPR2-related disorder ⚠
- p.Leu289Gln No assertion criteria AVPR2-related disorder ⚠
- p.Tyr124Ser No assertion criteria AVPR2-related disorder ⚠