AQP2 — 440 ClinVar variants
All ClinVar germline AQP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →
21 Pathogenic · 15 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 11 Conflicting · 37 Benign · 7 Benign/Likely benign · 155 Likely benign · 154 Uncertain significance
Full AQP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 104
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.
-
AQP2 p.Pro262Leu
Pathogenic/Likely pathogenic
Multiple submitters
nephrogenic diabetes insipidus
-
AQP2 p.Thr125Met
Pathogenic/Likely pathogenic
Multiple submitters
nephrogenic diabetes insipidus
-
AQP2 p.Thr126Met
Pathogenic/Likely pathogenic
Multiple submitters
nephrogenic diabetes insipidus
-
AQP2 p.Arg252Leu
Likely pathogenic
Single submitter
AQP2-related disorder
-
AQP2 p.Arg254Gln
Likely pathogenic
Single submitter
nephrogenic diabetes insipidus
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AQP2 p.Arg113Cys
Conflicting
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Asp150Glu
Conflicting
Single submitter
AQP2-related disorder
-
AQP2 p.Gly114Arg
Conflicting
Single submitter
Inborn genetic diseases
-
AQP2 p.Ile145Val
Conflicting
Single submitter
Inborn genetic diseases
-
AQP2 p.Val24Ile
Conflicting
Single submitter
diabetes insipidus, nephrogenic, autosomal
Predictors lean, ClinVar uncertain 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AQP2 p.Arg113His
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Arg152His
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Arg253Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AQP2 p.Arg5His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AQP2 p.Gly154Arg
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.His260Asn
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Leu174Val
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Leu209Pro
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Leu22Val
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Leu28Ile
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Pro225Leu
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Pro242Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AQP2 p.Ser261Leu
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Tyr219Cys Uncertain significance Multiple submitters
-
AQP2 p.Tyr219His
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Val131Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AQP2 p.Ala161Thr Uncertain significance Single submitter
-
AQP2 p.Ala190Val
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Ala192Pro
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Ala58Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Ala87Thr
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Ala92Val Uncertain significance Single submitter
-
AQP2 p.Arg249Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Arg85Gln
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Asn68Tyr Uncertain significance Single submitter
- AQP2 p.Asp150Asn Uncertain significance Single submitter
-
AQP2 p.Gln93Pro
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Glu3Lys
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Gly165Asp Uncertain significance Single submitter
-
AQP2 p.Gly207Arg
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Gly211Arg Uncertain significance Single submitter
- AQP2 p.Gly215Arg Uncertain significance Single submitter
-
AQP2 p.Gly239Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Gly53Cys
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Gly78Ser
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Gly96Glu Uncertain significance Single submitter
- AQP2 p.His105Arg Uncertain significance Single submitter
- AQP2 p.His201Tyr Uncertain significance Single submitter
- AQP2 p.Ile164Thr Uncertain significance Single submitter
-
AQP2 p.Ile44Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Ile52Thr
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Ile7Thr Uncertain significance Single submitter
-
AQP2 p.Leu104Phe
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Leu173Arg
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Leu21Phe Uncertain significance Single submitter
-
AQP2 p.Leu223Gln
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Leu32Ile
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Leu32Pro Uncertain significance Single submitter
-
AQP2 p.Leu42Ile
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
- AQP2 p.Leu4Val Uncertain significance Single submitter
- AQP2 p.Leu94Pro Uncertain significance Single submitter
-
AQP2 p.Lys270Arg
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Met183Thr
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Pro262Ser
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Ser163Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Ser167Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- AQP2 p.Ser264Arg Uncertain significance Single submitter
- AQP2 p.Thr149Asn Uncertain significance Single submitter
-
AQP2 p.Thr20Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- AQP2 p.Thr269Ala Uncertain significance Single submitter
-
AQP2 p.Trp205Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- AQP2 p.Val257Ala Uncertain significance Single submitter
-
AQP2 p.Val81Ile
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Val90Met
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Val98Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Ala37Val
Uncertain significance
No assertion criteria
nephrogenic diabetes insipidus
-
AQP2 p.Ala97Val
Uncertain significance
No assertion criteria
nephrogenic diabetes insipidus
-
AQP2 p.Arg249His
Uncertain significance
No assertion criteria
nephrogenic diabetes insipidus
-
AQP2 p.Glu106Asp
Uncertain significance
No assertion criteria
nephrogenic diabetes insipidus
-
AQP2 p.Ile107Val
Uncertain significance
No assertion criteria
nephrogenic diabetes insipidus
- AQP2 p.Leu21Pro Uncertain significance No assertion criteria
-
AQP2 p.Pro226Leu
Uncertain significance
No assertion criteria
nephrogenic diabetes insipidus
- AQP2 p.Trp205Arg Uncertain significance No assertion criteria
-
AQP2 p.Val118Gly
Uncertain significance
No assertion criteria
nephrogenic diabetes insipidus
Predictors split 20
The independent predictors disagree with each other — read with care.
-
AQP2 p.Ala102Thr
Uncertain significance
Multiple submitters
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Ala147Thr
Pathogenic/Likely pathogenic
Multiple submitters
AQP2-related disorder
-
AQP2 p.Ala47Val
Likely pathogenic
Multiple submitters
nephrogenic diabetes insipidus
-
AQP2 p.Ala101Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AQP2 p.Ala117Val Uncertain significance Single submitter
-
AQP2 p.Ala12Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Arg153His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Asn68Lys
Likely pathogenic
Single submitter
AQP2-related disorder
-
AQP2 p.Glu258Lys
Likely pathogenic
Single submitter
nephrogenic diabetes insipidus
-
AQP2 p.Gly158Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Gly180Arg
Uncertain significance
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Gly180Ser
Conflicting
Single submitter
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Gly29Ser
Conflicting
Single submitter
nephrogenic diabetes insipidus
- AQP2 p.Phe88Val Uncertain significance Single submitter
-
AQP2 p.Ser40Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AQP2 p.Thr126Lys Uncertain significance Single submitter
-
AQP2 p.Val98Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AQP2 p.Arg249Cys
Uncertain significance
No assertion criteria
nephrogenic diabetes insipidus
-
AQP2 p.Asn68Ser
Pathogenic
No assertion criteria
diabetes insipidus, nephrogenic, autosomal
-
AQP2 p.Thr179Ser
Uncertain significance
No assertion criteria
nephrogenic diabetes insipidus
All AQP2 variants
Pathogenic 21
- p.Arg85Ter Multiple submitters nephrogenic diabetes insipidus
- p.Gln43fs Multiple submitters nephrogenic diabetes insipidus
- p.Gly100Val Multiple submitters nephrogenic diabetes insipidus
- c.606+1G>A Single submitter
- p.Asn123fs Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Gln140Ter Single submitter
- p.Gly154Ter Single submitter
- p.His80fs Single submitter
- p.Ile52fs Single submitter
- p.Met1Ile Single submitter nephrogenic diabetes insipidus
- p.Phe88fs Single submitter
- p.Pro266fs Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Ser231Ter Single submitter
- p.Ser261Ter Single submitter
- p.Trp34_Pro35delinsTer Single submitter
- p.Val133fs Single submitter
- p.Val168fs Single submitter
- p.Val168Met Single submitter
- p.Asn68Ser No assertion criteria diabetes insipidus, nephrogenic, autosomal ⚠
- p.Cys181Trp No assertion criteria diabetes insipidus, nephrogenic, autosomal
- p.Thr126fs No assertion criteria nephrogenic diabetes insipidus
Pathogenic/Likely pathogenic 15
- p.Ala147Thr Multiple submitters AQP2-related disorder ⚠
- p.Arg187Cys Multiple submitters AQP2-related disorder
- p.Asn33fs Multiple submitters AQP2-related nephrogenic diabetes insipidus
- p.Gln255Ter Multiple submitters nephrogenic diabetes insipidus
- p.Gln36Ter Multiple submitters nephrogenic diabetes insipidus
- p.Gln43Ter Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Gln57Pro Multiple submitters nephrogenic diabetes insipidus
- p.Gln93Ter Multiple submitters nephrogenic diabetes insipidus
- p.Glu241delinsCysTer Multiple submitters nephrogenic diabetes insipidus
- p.Gly100Arg Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Gly64Arg Multiple submitters nephrogenic diabetes insipidus
- p.Pro262Leu Multiple submitters nephrogenic diabetes insipidus ⚠
- p.Thr125Met Multiple submitters nephrogenic diabetes insipidus ⚠
- p.Thr126Met Multiple submitters nephrogenic diabetes insipidus ⚠
- p.Val71Met Multiple submitters AQP2-related disorder
Likely pathogenic 40
- c.360+1G>A Multiple submitters nephrogenic diabetes insipidus
- c.607-1G>A Multiple submitters nephrogenic diabetes insipidus
- c.607-2A>G Multiple submitters nephrogenic diabetes insipidus
- p.Ala130Val Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Ala47Val Multiple submitters nephrogenic diabetes insipidus ⚠
- p.Arg187His Multiple submitters nephrogenic diabetes insipidus
- p.Pro185Ala Multiple submitters nephrogenic diabetes insipidus
- c.360+1G>C Single submitter nephrogenic diabetes insipidus
- c.361-2A>G Single submitter
- c.526-1G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.526-2A>G Single submitter
- p.Ala190Thr Single submitter nephrogenic diabetes insipidus
- p.Ala271fs Single submitter nephrogenic diabetes insipidus
- p.Arg187Gly Single submitter
- p.Arg252Leu Single submitter AQP2-related disorder ⚠
- p.Arg254Gln Single submitter nephrogenic diabetes insipidus ⚠
- p.Asn68Lys Single submitter AQP2-related disorder ⚠
- p.Asp243fs Single submitter nephrogenic diabetes insipidus
- p.Cys75Gly Single submitter nephrogenic diabetes insipidus
- p.Gln255fs Single submitter nephrogenic diabetes insipidus
- p.Glu241fs Single submitter nephrogenic diabetes insipidus
- p.Glu258Lys Single submitter nephrogenic diabetes insipidus ⚠
- p.Gly175Arg Single submitter nephrogenic diabetes insipidus
- p.Gly215Cys Single submitter nephrogenic diabetes insipidus
- p.Gly215Ser Single submitter nephrogenic diabetes insipidus
- p.Lys228fs Single submitter nephrogenic diabetes insipidus
- p.Pro160fs Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Pro262fs Single submitter nephrogenic diabetes insipidus
- p.Ser216Pro Single submitter nephrogenic diabetes insipidus
- p.Ser256Ter Single submitter
- p.Ser261fs Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Ter272LeuextTer? Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Trp2Ter Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Tyr89Ter Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Val133Glu Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Val13fs Single submitter nephrogenic diabetes insipidus
- p.Val193fs Single submitter nephrogenic diabetes insipidus
- p.Val73fs Single submitter nephrogenic diabetes insipidus
- c.526-1G>T No assertion criteria diabetes insipidus, nephrogenic, autosomal
- p.Ser188Phe No assertion criteria diabetes insipidus, nephrogenic, autosomal
Conflicting classifications of pathogenicity 11
- c.607-12G>T Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Arg113Cys Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Asp150Glu Single submitter AQP2-related disorder ⚠
- p.Asp245= Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Gly114Arg Single submitter Inborn genetic diseases ⚠
- p.Gly180Ser Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Gly29Ser Single submitter nephrogenic diabetes insipidus ⚠
- p.Ile145Val Single submitter Inborn genetic diseases ⚠
- p.Pro157= Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Ser63= Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Val24Ile Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
Benign 37
- c.360+106G>A Multiple submitters
- c.360+126G>A Multiple submitters
- c.360+233G>A Multiple submitters
- c.360+292A>G Multiple submitters
- c.360+327G>A Multiple submitters
- c.360+3G>A Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.526-54T>C Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.606+181C>T Multiple submitters
- c.607-221A>G Multiple submitters
- c.607-253T>C Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.607-39C>G Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.607-59C>A Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.607-92A>G Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*121C>G Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*1228T>G Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*1562T>C Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*1684T>C Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*1757A>G Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*20C>A Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*2250C>T Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*2495A>G Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*2725A>C Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*3002G>C Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*3168T>C Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.*374C>T Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Leu234= Multiple submitters nephrogenic diabetes insipidus
- p.Ser167= Multiple submitters diabetes insipidus, nephrogenic, autosomal
- c.361-250T>G Single submitter
- c.-59G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1001G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1218T>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1395C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2101C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*252G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2795T>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*530C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*907C>T Single submitter diabetes insipidus, nephrogenic, autosomal
Benign/Likely benign 7
- c.606+14C>T Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Asn68= Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Asp115= Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Gly114= Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Phe146= Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Thr125= Multiple submitters
- p.Val13= Multiple submitters diabetes insipidus, nephrogenic, autosomal
Likely benign 155
- c.361-20C>T Multiple submitters
- p.Ala101= Multiple submitters
- p.Ala192= Multiple submitters
- p.Ala86= Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Glu3= Multiple submitters
- p.Phe26= Multiple submitters
- p.Pro242= Multiple submitters
- c.360+12C>G Single submitter
- c.360+12C>T Single submitter
- c.360+17T>A Single submitter
- c.360+20C>T Single submitter
- c.361-10C>T Single submitter
- c.361-19G>A Single submitter
- c.361-19G>T Single submitter
- c.361-20C>A Single submitter
- c.361-8G>C Single submitter
- c.361-9T>C Single submitter
- c.525+16G>A Single submitter
- c.525+7C>T Single submitter
- c.525+9T>C Single submitter
- c.526-12C>G Single submitter
- c.526-13C>T Single submitter
- c.526-14T>G Single submitter
- c.526-15C>T Single submitter
- c.526-16C>G Single submitter
- c.526-7A>G Single submitter
- c.606+10G>A Single submitter
- c.606+16C>T Single submitter
- c.606+19T>G Single submitter
- c.606+7G>A Single submitter
- c.606+8C>G Single submitter
- c.606+9T>C Single submitter
- c.607-13C>T Single submitter
- c.607-19C>T Single submitter
- c.607-20C>T Single submitter
- c.607-3del Single submitter nephrogenic diabetes insipidus
- c.607-4C>T Single submitter
- c.607-6C>T Single submitter
- c.607-7C>T Single submitter
- c.*108A>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1873G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2048G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*232G>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*425T>C Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Ala117= Single submitter
- p.Ala130= Single submitter
- p.Ala15= Single submitter
- p.Ala186= Single submitter
- p.Ala227= Single submitter
- p.Ala235= Single submitter
- p.Ala37= Single submitter
- p.Ala45= Single submitter nephrogenic diabetes insipidus
- p.Ala47= Single submitter
- p.Ala70= Single submitter
- p.Ala74= Single submitter
- p.Ala8= Single submitter
- p.Ala91= Single submitter
- p.Ala92= Single submitter
- p.Ala97= Single submitter
- p.Ala99= Single submitter
- p.Arg11= Single submitter
- p.Arg113= Single submitter
- p.Arg152= Single submitter
- p.Arg153= Single submitter nephrogenic diabetes insipidus
- p.Arg187= Single submitter
- p.Arg233= Single submitter
- p.Arg249= Single submitter
- p.Arg267= Single submitter
- p.Arg85= Single submitter
- p.Asn119= Single submitter
- p.Asn156= Single submitter
- p.Asn184= Single submitter
- p.Asn220= Single submitter
- p.Asn220Thr Single submitter
- p.Asn33= Single submitter
- p.Asp243= Single submitter
- p.Cys79= Single submitter
- p.Gln129= Single submitter
- p.Gln43= Single submitter
- p.Glu134= Single submitter
- p.Glu247= Single submitter
- p.Glu248= Single submitter
- p.Glu250= Single submitter
- p.Gly128= Single submitter
- p.Gly171= Single submitter
- p.Gly211= Single submitter
- p.Gly239= Single submitter
- p.Gly29= Single submitter
- p.Gly60= Single submitter
- p.Gly78= Single submitter
- p.Gly96= Single submitter
- p.His105= Single submitter
- p.His177Tyr Single submitter Inborn genetic diseases
- p.His80= Single submitter
- p.Ile206= Single submitter
- p.Ile62= Single submitter
- p.Leu103= Single submitter
- p.Leu104= Single submitter
- p.Leu116= Single submitter
- p.Leu121= Single submitter
- p.Leu137= Single submitter
- p.Leu141= Single submitter
- p.Leu143= Single submitter
- p.Leu143= Single submitter
- p.Leu162= Single submitter
- p.Leu170= Single submitter
- p.Leu173= Single submitter
- p.Leu189= Single submitter
- p.Leu209Val Single submitter
- p.Leu21= Single submitter
- p.Leu214= Single submitter
- p.Leu217= Single submitter
- p.Leu230= Single submitter
- p.Leu259= Single submitter
- p.Leu28= Single submitter
- p.Leu38= Single submitter
- p.Leu55= Single submitter
- p.Leu59= Single submitter
- p.Phe14= Single submitter
- p.Phe17= Single submitter
- p.Phe23= Single submitter
- p.Pro157= Single submitter
- p.Pro157Leu Single submitter Inborn genetic diseases
- p.Pro160= Single submitter
- p.Pro208= Single submitter
- p.Pro225= Single submitter
- p.Pro262= Single submitter
- p.Pro262= Single submitter
- p.Pro39= Single submitter
- p.Ser148= Single submitter
- p.Ser188= Single submitter
- p.Ser231= Single submitter
- p.Ser256= Single submitter
- p.Ser264= Single submitter
- p.Ser82= Single submitter
- p.Thr108= Single submitter nephrogenic diabetes insipidus
- p.Thr126= Single submitter
- p.Thr138= Single submitter
- p.Thr149= Single submitter nephrogenic diabetes insipidus
- p.Thr179= Single submitter
- p.Thr195= Single submitter
- p.Thr20= Single submitter
- p.Thr244= Single submitter
- p.Thr54= Single submitter
- p.Tyr219= Single submitter
- p.Tyr89= Single submitter
- p.Val131= Single submitter
- p.Val193= Single submitter
- p.Val194= Single submitter
- p.Val210= Single submitter
- p.Val222= Single submitter
- p.Val257= Single submitter
- p.Val56= Single submitter
- p.Val83Ile Single submitter
- p.Val98= Single submitter
Uncertain significance 154
- c.526-5T>G Multiple submitters Inborn genetic diseases
- c.-60C>T Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Ala102Thr Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Ala15Thr Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Arg113His Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Arg11Lys Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Arg152His Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Arg253Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg5Cys Multiple submitters diabetes insipidus, nephrogenic, autosomal
- p.Arg5His Multiple submitters Inborn genetic diseases ⚠
- p.Gly154Arg Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.His260Asn Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Leu174Val Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Leu209Pro Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Leu22Val Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Leu28Ile Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Pro225Leu Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Pro242Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser261Leu Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Tyr219Cys Multiple submitters ⚠
- p.Tyr219His Multiple submitters diabetes insipidus, nephrogenic, autosomal ⚠
- p.Val131Met Multiple submitters Inborn genetic diseases ⚠
- c.360+5G>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.-16C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.-65G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.-75G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.-75G>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.-93G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*103A>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1065G>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1081C>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*118C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1207T>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1243C>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1270C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1315G>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1599A>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1646C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1730del Single submitter
- c.*1793C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*1889C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2072T>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2099T>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2359T>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2488T>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*250A>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2616G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2715C>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2804C>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2836C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2838C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2869G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2937T>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2938C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*2961C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*3081C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*3104G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*3153T>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*3161A>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*3172G>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*3190G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*3203G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*321G>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*3247A>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*375G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*485C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*57G>A Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*602A>G Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*640T>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*842C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*873C>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*888G>T Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*943A>C Single submitter diabetes insipidus, nephrogenic, autosomal
- c.*976A>G Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Ala101Thr Single submitter Inborn genetic diseases ⚠
- p.Ala117Val Single submitter ⚠
- p.Ala12Ser Single submitter Inborn genetic diseases ⚠
- p.Ala161Thr Single submitter ⚠
- p.Ala190Val Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Ala192Pro Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Ala58Gly Single submitter Inborn genetic diseases ⚠
- p.Ala87Thr Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Ala8Asn Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Ala92Val Single submitter ⚠
- p.Arg153His Single submitter Inborn genetic diseases ⚠
- p.Arg249Ser Single submitter Inborn genetic diseases ⚠
- p.Arg85Gln Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Asn68Tyr Single submitter ⚠
- p.Asp150Asn Single submitter ⚠
- p.Gln93Pro Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Glu3Lys Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Gly158Ala Single submitter Inborn genetic diseases ⚠
- p.Gly165Asp Single submitter ⚠
- p.Gly180Arg Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Gly207Arg Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Gly211Arg Single submitter ⚠
- p.Gly215Arg Single submitter ⚠
- p.Gly239Ala Single submitter Inborn genetic diseases ⚠
- p.Gly53Cys Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Gly78Ser Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Gly96Glu Single submitter ⚠
- p.His105Arg Single submitter ⚠
- p.His201Tyr Single submitter ⚠
- p.Ile164Thr Single submitter ⚠
- p.Ile44Thr Single submitter Inborn genetic diseases ⚠
- p.Ile52Thr Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Ile7Thr Single submitter ⚠
- p.Leu104Phe Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Leu173Arg Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Leu21Phe Single submitter ⚠
- p.Leu223Gln Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Leu259Pro Single submitter Inborn genetic diseases
- p.Leu32Ile Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Leu32Pro Single submitter ⚠
- p.Leu42Ile Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Leu4Val Single submitter ⚠
- p.Leu94Pro Single submitter ⚠
- p.Lys270Arg Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Met183Thr Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Phe204del Single submitter
- p.Phe88Val Single submitter ⚠
- p.Pro160Leu Single submitter diabetes insipidus, nephrogenic, autosomal
- p.Pro262Ser Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Ser163Thr Single submitter Inborn genetic diseases ⚠
- p.Ser167Pro Single submitter Inborn genetic diseases ⚠
- p.Ser264Arg Single submitter ⚠
- p.Ser40Cys Single submitter Inborn genetic diseases ⚠
- p.Ter272ProextTer? Single submitter
- p.Thr126Lys Single submitter ⚠
- p.Thr149Asn Single submitter ⚠
- p.Thr20Ile Single submitter Inborn genetic diseases ⚠
- p.Thr269Ala Single submitter ⚠
- p.Trp205Leu Single submitter Inborn genetic diseases ⚠
- p.Val257Ala Single submitter ⚠
- p.Val81Ile Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Val90Met Single submitter diabetes insipidus, nephrogenic, autosomal ⚠
- p.Val98Leu Single submitter Inborn genetic diseases ⚠
- p.Val98Met Single submitter Inborn genetic diseases ⚠
- c.361-6C>T No assertion criteria nephrogenic diabetes insipidus
- c.361-8G>A No assertion criteria nephrogenic diabetes insipidus
- p.Ala31Thr No assertion criteria nephrogenic diabetes insipidus
- p.Ala37Val No assertion criteria nephrogenic diabetes insipidus ⚠
- p.Ala97Val No assertion criteria nephrogenic diabetes insipidus ⚠
- p.Arg249Cys No assertion criteria nephrogenic diabetes insipidus ⚠
- p.Arg249His No assertion criteria nephrogenic diabetes insipidus ⚠
- p.Glu106Asp No assertion criteria nephrogenic diabetes insipidus ⚠
- p.Glu250Lys No assertion criteria nephrogenic diabetes insipidus
- p.Ile107Val No assertion criteria nephrogenic diabetes insipidus ⚠
- p.Leu21Pro No assertion criteria ⚠
- p.Pro226Leu No assertion criteria nephrogenic diabetes insipidus ⚠
- p.Thr179Ser No assertion criteria nephrogenic diabetes insipidus ⚠
- p.Trp205Arg No assertion criteria ⚠
- p.Val118Gly No assertion criteria nephrogenic diabetes insipidus ⚠
- p.Val90= No assertion criteria nephrogenic diabetes insipidus