AVPR1A — 55 ClinVar variants
All ClinVar germline AVPR1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
3 Benign · 2 Likely benign · 50 Uncertain significance
Full AVPR1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AVPR1A p.Ala252Val Uncertain significance Single submitter
- AVPR1A p.Ala65Thr Uncertain significance Single submitter
- AVPR1A p.Arg118His Uncertain significance Single submitter
- AVPR1A p.Arg2His Uncertain significance Single submitter
- AVPR1A p.Arg46Leu Uncertain significance Single submitter
- AVPR1A p.Arg81Gly Uncertain significance Single submitter
- AVPR1A p.Asn196Asp Uncertain significance Single submitter
- AVPR1A p.Asn374Ser Uncertain significance Single submitter
- AVPR1A p.Asn391Ser Uncertain significance Single submitter
- AVPR1A p.Asn39Lys Uncertain significance Single submitter
- AVPR1A p.Asp148Val Uncertain significance Single submitter
- AVPR1A p.Cys110Tyr Uncertain significance Single submitter
- AVPR1A p.Cys124Tyr Uncertain significance Single submitter
- AVPR1A p.Cys203Trp Uncertain significance Single submitter
- AVPR1A p.Gln357His Uncertain significance Single submitter
- AVPR1A p.Glu193Gln Uncertain significance Single submitter
- AVPR1A p.Gly10Val Uncertain significance Single submitter
- AVPR1A p.Gly222Ser Uncertain significance Single submitter
- AVPR1A p.Gly258Asp Uncertain significance Single submitter
- AVPR1A p.Gly263Val Uncertain significance Single submitter
- AVPR1A p.Gly269Arg Uncertain significance Single submitter
- AVPR1A p.Gly337Ser Uncertain significance Single submitter
- AVPR1A p.Ile208Thr Uncertain significance Single submitter
-
AVPR1A p.Ile243Phe
Uncertain significance
Single submitter
AVPR1A-related disorder
- AVPR1A p.Ile55Asn Uncertain significance Single submitter
- AVPR1A p.Leu123Val Uncertain significance Single submitter
- AVPR1A p.Met349Val Uncertain significance Single submitter
- AVPR1A p.Met86Val Uncertain significance Single submitter
- AVPR1A p.Pro11Leu Uncertain significance Single submitter
- AVPR1A p.Pro405Arg Uncertain significance Single submitter
- AVPR1A p.Pro41Ala Uncertain significance Single submitter
- AVPR1A p.Ser380Asn Uncertain significance Single submitter
- AVPR1A p.Thr28Lys Uncertain significance Single submitter
- AVPR1A p.Thr418Ile Uncertain significance Single submitter
- AVPR1A p.Thr83Met Uncertain significance Single submitter
- AVPR1A p.Trp175Gly Uncertain significance Single submitter
- AVPR1A p.Trp18Cys Uncertain significance Single submitter
- AVPR1A p.Trp346Cys Uncertain significance Single submitter
- AVPR1A p.Tyr150Cys Uncertain significance Single submitter
- AVPR1A p.Val45Leu Uncertain significance Single submitter
- AVPR1A p.Val66Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- AVPR1A p.Phe308Leu Benign Multiple submitters
- AVPR1A p.Ala227Glu Uncertain significance Single submitter
- AVPR1A p.Glu193Lys Uncertain significance Single submitter
- AVPR1A p.Gly353Val Uncertain significance Single submitter
- AVPR1A p.Gly6Cys Uncertain significance Single submitter
- AVPR1A p.Lys158Asn Uncertain significance Single submitter
- AVPR1A p.Met349Lys Uncertain significance Single submitter
- AVPR1A p.Phe413Leu Uncertain significance Single submitter
- AVPR1A p.Phe62Leu Uncertain significance Single submitter
All AVPR1A variants
Benign 3
- p.Phe308Leu Multiple submitters ⚠
- p.Thr251= Single submitter
- p.Phe136= No assertion criteria AVPR1A-related disorder
Likely benign 2
- p.Arg43Lys Single submitter
- p.Thr83= Single submitter
Uncertain significance 50
- p.Ala227Glu Single submitter ⚠
- p.Ala252Val Single submitter ⚠
- p.Ala65Thr Single submitter ⚠
- p.Arg118His Single submitter ⚠
- p.Arg288Cys Single submitter
- p.Arg2His Single submitter ⚠
- p.Arg46Leu Single submitter ⚠
- p.Arg81Gly Single submitter ⚠
- p.Asn196Asp Single submitter ⚠
- p.Asn374Ser Single submitter ⚠
- p.Asn391Ser Single submitter ⚠
- p.Asn39Lys Single submitter ⚠
- p.Asp148Val Single submitter ⚠
- p.Cys110Tyr Single submitter ⚠
- p.Cys124Tyr Single submitter ⚠
- p.Cys203Trp Single submitter ⚠
- p.Gln357His Single submitter ⚠
- p.Glu193Gln Single submitter ⚠
- p.Glu193Lys Single submitter ⚠
- p.Gly10Val Single submitter ⚠
- p.Gly222Ser Single submitter ⚠
- p.Gly258Asp Single submitter ⚠
- p.Gly263Val Single submitter ⚠
- p.Gly269Arg Single submitter ⚠
- p.Gly337Ser Single submitter ⚠
- p.Gly353Val Single submitter ⚠
- p.Gly6Cys Single submitter ⚠
- p.Ile208Thr Single submitter ⚠
- p.Ile243Phe Single submitter AVPR1A-related disorder ⚠
- p.Ile55Asn Single submitter ⚠
- p.Leu123Val Single submitter ⚠
- p.Lys158Asn Single submitter ⚠
- p.Met349Lys Single submitter ⚠
- p.Met349Val Single submitter ⚠
- p.Met86Val Single submitter ⚠
- p.Phe413Leu Single submitter ⚠
- p.Phe62Leu Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro405Arg Single submitter ⚠
- p.Pro41Ala Single submitter ⚠
- p.Ser380Asn Single submitter ⚠
- p.Thr28Lys Single submitter ⚠
- p.Thr418Ile Single submitter ⚠
- p.Thr83Met Single submitter ⚠
- p.Trp175Gly Single submitter ⚠
- p.Trp18Cys Single submitter ⚠
- p.Trp346Cys Single submitter ⚠
- p.Tyr150Cys Single submitter ⚠
- p.Val45Leu Single submitter ⚠
- p.Val66Met Single submitter ⚠