TRPV5 — 119 ClinVar variants
All ClinVar germline TRPV5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
1 Pathogenic · 7 Benign · 9 Likely benign · 102 Uncertain significance
Full TRPV5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TRPV5 p.Ala102Thr Uncertain significance Single submitter
- TRPV5 p.Ala114Thr Uncertain significance Single submitter
- TRPV5 p.Ala191Thr Uncertain significance Single submitter
- TRPV5 p.Ala247Val Uncertain significance Single submitter
- TRPV5 p.Ala376Ser Uncertain significance Single submitter
- TRPV5 p.Ala677Pro Uncertain significance Single submitter
- TRPV5 p.Ala692Val Uncertain significance Single submitter
- TRPV5 p.Ala94Val Uncertain significance Single submitter
- TRPV5 p.Arg153His Uncertain significance Single submitter
- TRPV5 p.Arg157Cys Uncertain significance Single submitter
- TRPV5 p.Arg180Gln Uncertain significance Single submitter
- TRPV5 p.Arg326Gln Uncertain significance Single submitter
- TRPV5 p.Arg326Trp Uncertain significance Single submitter
- TRPV5 p.Arg363Gly Uncertain significance Single submitter
- TRPV5 p.Arg414His Uncertain significance Single submitter
- TRPV5 p.Arg470Gln Uncertain significance Single submitter
- TRPV5 p.Arg643Gln Uncertain significance Single submitter
- TRPV5 p.Arg690Trp Uncertain significance Single submitter
- TRPV5 p.Arg699Gln Uncertain significance Single submitter
- TRPV5 p.Arg73Gln Uncertain significance Single submitter
- TRPV5 p.Asn158His Uncertain significance Single submitter
- TRPV5 p.Asn217Lys Uncertain significance Single submitter
- TRPV5 p.Asn635Lys Uncertain significance Single submitter
- TRPV5 p.Asn637Ser Uncertain significance Single submitter
- TRPV5 p.Asp223Glu Uncertain significance Single submitter
- TRPV5 p.Asp223Gly Uncertain significance Single submitter
- TRPV5 p.Asp227Glu Uncertain significance Single submitter
- TRPV5 p.Asp284Gly Uncertain significance Single submitter
- TRPV5 p.Asp30His Uncertain significance Single submitter
- TRPV5 p.Asp34Asn Uncertain significance Single submitter
- TRPV5 p.Asp627Gly Uncertain significance Single submitter
- TRPV5 p.Asp90Asn Uncertain significance Single submitter
- TRPV5 p.Cys347Phe Uncertain significance Single submitter
- TRPV5 p.Glu177Asp Uncertain significance Single submitter
- TRPV5 p.Glu389Gln Uncertain significance Single submitter
- TRPV5 p.Glu657Lys Uncertain significance Single submitter
- TRPV5 p.Glu724Lys Uncertain significance Single submitter
- TRPV5 p.Gly224Arg Uncertain significance Single submitter
- TRPV5 p.Gly251Asp Uncertain significance Single submitter
- TRPV5 p.Gly461Asp Uncertain significance Single submitter
- TRPV5 p.Gly710Glu Uncertain significance Single submitter
- TRPV5 p.His636Tyr Uncertain significance Single submitter
- TRPV5 p.Ile283Val Uncertain significance Single submitter
- TRPV5 p.Ile367Thr Uncertain significance Single submitter
- TRPV5 p.Ile511Leu Uncertain significance Single submitter
- TRPV5 p.Leu132Met Uncertain significance Single submitter
- TRPV5 p.Leu50Phe Uncertain significance Single submitter
- TRPV5 p.Leu5Ile Uncertain significance Single submitter
- TRPV5 p.Leu683Val Uncertain significance Single submitter
- TRPV5 p.Lys54Arg Uncertain significance Single submitter
- TRPV5 p.Met215Ile Uncertain significance Single submitter
- TRPV5 p.Met255Ile Uncertain significance Single submitter
- TRPV5 p.Met38Thr Uncertain significance Single submitter
- TRPV5 p.Met466Val Uncertain significance Single submitter
- TRPV5 p.Phe329Val Uncertain significance Single submitter
- TRPV5 p.Pro109Leu Uncertain significance Single submitter
- TRPV5 p.Pro236Ser Uncertain significance Single submitter
- TRPV5 p.Pro243Arg Uncertain significance Single submitter
- TRPV5 p.Pro327Leu Uncertain significance Single submitter
- TRPV5 p.Ser21Tyr Uncertain significance Single submitter
- TRPV5 p.Ser59Ala Uncertain significance Single submitter
- TRPV5 p.Val199Ile Uncertain significance Single submitter
- TRPV5 p.Val348Phe Uncertain significance Single submitter
- TRPV5 p.Val60Ala Uncertain significance Single submitter
- TRPV5 p.Val72Ile Uncertain significance Single submitter
- TRPV5 p.Arg157His Uncertain significance No assertion criteria
- TRPV5 p.Arg610His Uncertain significance No assertion criteria
Predictors split 29
The independent predictors disagree with each other — read with care.
- TRPV5 p.Arg263Trp Benign Multiple submitters
- TRPV5 p.Ala507Val Uncertain significance Single submitter
- TRPV5 p.Ala561Pro Uncertain significance Single submitter
- TRPV5 p.Ala82Val Uncertain significance Single submitter
- TRPV5 p.Ala95Gly Uncertain significance Single submitter
- TRPV5 p.Arg443Trp Uncertain significance Single submitter
- TRPV5 p.Arg615Cys Uncertain significance Single submitter
- TRPV5 p.Arg628Cys Uncertain significance Single submitter
- TRPV5 p.Asn217Tyr Uncertain significance Single submitter
- TRPV5 p.Asp233Gly Uncertain significance Single submitter
- TRPV5 p.Asp406Tyr Uncertain significance Single submitter
- TRPV5 p.Glu164Asp Uncertain significance Single submitter
- TRPV5 p.His426Arg Uncertain significance Single submitter
- TRPV5 p.Ile341Asn Uncertain significance Single submitter
- TRPV5 p.Ile404Thr Uncertain significance Single submitter
- TRPV5 p.Met466Thr Uncertain significance Single submitter
- TRPV5 p.Met577Arg Uncertain significance Single submitter
- TRPV5 p.Phe487Ser Uncertain significance Single submitter
- TRPV5 p.Pro156Leu Uncertain significance Single submitter
- TRPV5 p.Pro243Ser Uncertain significance Single submitter
- TRPV5 p.Ser142Ile Uncertain significance Single submitter
- TRPV5 p.Thr274Ile Uncertain significance Single submitter
- TRPV5 p.Thr69Pro Uncertain significance Single submitter
- TRPV5 p.Thr81Met Uncertain significance Single submitter
- TRPV5 p.Trp701Ser Uncertain significance Single submitter
- TRPV5 p.Tyr328His Uncertain significance Single submitter
- TRPV5 p.Tyr647Cys Uncertain significance Single submitter
- TRPV5 p.Tyr89Cys Uncertain significance Single submitter
- TRPV5 p.Val597Ala Uncertain significance Single submitter
All TRPV5 variants
Pathogenic 1
- p.Val598Met No assertion criteria Renal Calcium Wasting Hypercalciuria
Benign 7
- p.Arg263Trp Multiple submitters ⚠
- p.Leu23Pro Multiple submitters
- p.His154Arg Single submitter
- p.Thr281= Single submitter
- p.Thr344= Single submitter
- p.Thr563Ala Single submitter
- p.Tyr222= Single submitter
Likely benign 9
- p.Ala671Thr Single submitter
- p.Arg139His Single submitter
- p.Arg153Cys Single submitter
- p.Arg264Lys Single submitter
- p.Cys611Phe Single submitter
- p.Ile276Thr Single submitter
- p.Thr345Met Single submitter
- p.Ala561Thr No assertion criteria TRPV5-related disorder
- p.Leu681Ser No assertion criteria TRPV5-related disorder
Uncertain significance 102
- p.Ala102Thr Single submitter ⚠
- p.Ala114Thr Single submitter ⚠
- p.Ala191Thr Single submitter ⚠
- p.Ala247Val Single submitter ⚠
- p.Ala376Ser Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Ala561Pro Single submitter ⚠
- p.Ala677Pro Single submitter ⚠
- p.Ala692Val Single submitter ⚠
- p.Ala82Val Single submitter ⚠
- p.Ala94Val Single submitter ⚠
- p.Ala95Gly Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg157Cys Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg326Gln Single submitter ⚠
- p.Arg326Trp Single submitter ⚠
- p.Arg363Gly Single submitter ⚠
- p.Arg414His Single submitter ⚠
- p.Arg443Trp Single submitter ⚠
- p.Arg470Gln Single submitter ⚠
- p.Arg615Cys Single submitter ⚠
- p.Arg628Cys Single submitter ⚠
- p.Arg643Gln Single submitter ⚠
- p.Arg643Pro Single submitter
- p.Arg690Trp Single submitter ⚠
- p.Arg699Gln Single submitter ⚠
- p.Arg73Gln Single submitter ⚠
- p.Asn158His Single submitter ⚠
- p.Asn217Lys Single submitter ⚠
- p.Asn217Tyr Single submitter ⚠
- p.Asn635Lys Single submitter ⚠
- p.Asn637Ser Single submitter ⚠
- p.Asp223Glu Single submitter ⚠
- p.Asp223Gly Single submitter ⚠
- p.Asp227Glu Single submitter ⚠
- p.Asp233Gly Single submitter ⚠
- p.Asp284Gly Single submitter ⚠
- p.Asp30His Single submitter ⚠
- p.Asp34Asn Single submitter ⚠
- p.Asp406Tyr Single submitter ⚠
- p.Asp627Gly Single submitter ⚠
- p.Asp90Asn Single submitter ⚠
- p.Cys347Phe Single submitter ⚠
- p.Glu164Asp Single submitter ⚠
- p.Glu177Asp Single submitter ⚠
- p.Glu389Gln Single submitter ⚠
- p.Glu657Lys Single submitter ⚠
- p.Glu724Lys Single submitter ⚠
- p.Gly224Arg Single submitter ⚠
- p.Gly251Asp Single submitter ⚠
- p.Gly461Asp Single submitter ⚠
- p.Gly710Glu Single submitter ⚠
- p.His426Arg Single submitter ⚠
- p.His636Tyr Single submitter ⚠
- p.Ile283Val Single submitter ⚠
- p.Ile341Asn Single submitter ⚠
- p.Ile367Thr Single submitter ⚠
- p.Ile404Thr Single submitter ⚠
- p.Ile511Leu Single submitter ⚠
- p.Leu132Met Single submitter ⚠
- p.Leu50Phe Single submitter ⚠
- p.Leu5Ile Single submitter ⚠
- p.Leu683Val Single submitter ⚠
- p.Lys54Arg Single submitter ⚠
- p.Met215Ile Single submitter ⚠
- p.Met255Ile Single submitter ⚠
- p.Met38Thr Single submitter ⚠
- p.Met466Thr Single submitter ⚠
- p.Met466Val Single submitter ⚠
- p.Met577Arg Single submitter ⚠
- p.Phe329Val Single submitter ⚠
- p.Phe487Ser Single submitter ⚠
- p.Pro109Leu Single submitter ⚠
- p.Pro156Leu Single submitter ⚠
- p.Pro236Ser Single submitter ⚠
- p.Pro243Arg Single submitter ⚠
- p.Pro243Ser Single submitter ⚠
- p.Pro327Leu Single submitter ⚠
- p.Pro453Ser Single submitter
- p.Ser142Ile Single submitter ⚠
- p.Ser21Tyr Single submitter ⚠
- p.Ser59Ala Single submitter ⚠
- p.Thr274Ile Single submitter ⚠
- p.Thr69Pro Single submitter ⚠
- p.Thr81Met Single submitter ⚠
- p.Trp701Ser Single submitter ⚠
- p.Tyr328His Single submitter ⚠
- p.Tyr647Cys Single submitter ⚠
- p.Tyr89Cys Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val348Phe Single submitter ⚠
- p.Val597Ala Single submitter ⚠
- p.Val60Ala Single submitter ⚠
- p.Val72Ile Single submitter ⚠
- p.Arg157His No assertion criteria ⚠
- p.Arg610His No assertion criteria ⚠
- p.Asn322= No assertion criteria
- p.Lys656= No assertion criteria
- p.Pro11= No assertion criteria
- p.Thr345= No assertion criteria
- p.Val179Met No assertion criteria