PHPT1 — 24 ClinVar variants
All ClinVar germline PHPT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
3 Likely benign · 21 Uncertain significance
Full PHPT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PHPT1 p.Asp123Asn Uncertain significance Single submitter
- PHPT1 p.Asp58His Uncertain significance Single submitter
- PHPT1 p.Cys73Trp Uncertain significance Single submitter
- PHPT1 p.Gln84Arg Uncertain significance Single submitter
- PHPT1 p.Glu117Asp Uncertain significance Single submitter
- PHPT1 p.Gly77Arg Uncertain significance Single submitter
- PHPT1 p.His89Tyr Uncertain significance Single submitter
- PHPT1 p.Ile56Phe Uncertain significance Single submitter
- PHPT1 p.Pro114Ser Uncertain significance Single submitter
- PHPT1 p.Pro99Leu Uncertain significance Single submitter
- PHPT1 p.Ser105Ala Uncertain significance Single submitter
- PHPT1 p.Ser83Cys Uncertain significance Single submitter
- PHPT1 p.Ser94Phe Uncertain significance Single submitter
- PHPT1 p.Ser94Thr Uncertain significance Single submitter
- PHPT1 p.Ser94Tyr Uncertain significance Single submitter
- PHPT1 p.Thr106Ala Uncertain significance Single submitter
- PHPT1 p.Tyr57Phe Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All PHPT1 variants
Likely benign 3
- p.Ala103Ser Single submitter
- p.Gln65= Single submitter
- p.His102= Single submitter
Uncertain significance 21
- p.Asp123Asn Single submitter ⚠
- p.Asp58His Single submitter ⚠
- p.Cys73Trp Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Glu117Asp Single submitter ⚠
- p.Gly77Arg Single submitter ⚠
- p.His81Gln Single submitter ⚠
- p.His89Tyr Single submitter ⚠
- p.Ile56Phe Single submitter ⚠
- p.Ile79Met Single submitter
- p.Lys87Met Single submitter ⚠
- p.Pro114Ser Single submitter ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser105Ala Single submitter ⚠
- p.Ser83Cys Single submitter ⚠
- p.Ser94Phe Single submitter ⚠
- p.Ser94Thr Single submitter ⚠
- p.Ser94Tyr Single submitter ⚠
- p.Thr106Ala Single submitter ⚠
- p.Tyr57Phe Single submitter ⚠
- p.Tyr97Cys Single submitter ⚠