PHOSPHO1 — 42 ClinVar variants
All ClinVar germline PHOSPHO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
2 Likely benign · 40 Uncertain significance
Full PHOSPHO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PHOSPHO1 p.Ala135Ser Uncertain significance Single submitter
- PHOSPHO1 p.Ala215Val Uncertain significance Single submitter
- PHOSPHO1 p.Arg161Leu Uncertain significance Single submitter
- PHOSPHO1 p.Arg186His Uncertain significance Single submitter
- PHOSPHO1 p.Arg60Gln Uncertain significance Single submitter
- PHOSPHO1 p.Asp104Ala Uncertain significance Single submitter
- PHOSPHO1 p.Asp123Asn Uncertain significance Single submitter
- PHOSPHO1 p.Asp16Asn Uncertain significance Single submitter
- PHOSPHO1 p.Gln112Glu Uncertain significance Single submitter
- PHOSPHO1 p.Gln236His Uncertain significance Single submitter
- PHOSPHO1 p.Gln53Arg Uncertain significance Single submitter
- PHOSPHO1 p.Glu35Gly Uncertain significance Single submitter
- PHOSPHO1 p.Gly101Asp Uncertain significance Single submitter
- PHOSPHO1 p.Gly17Arg Uncertain significance Single submitter
- PHOSPHO1 p.Gly17Ser Uncertain significance Single submitter
- PHOSPHO1 p.Gly217Cys Uncertain significance Single submitter
- PHOSPHO1 p.Leu158Val Uncertain significance Single submitter
- PHOSPHO1 p.Leu29Pro Uncertain significance Single submitter
- PHOSPHO1 p.Ser122Pro Uncertain significance Single submitter
- PHOSPHO1 p.Ser167Thr Uncertain significance Single submitter
- PHOSPHO1 p.Val193Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- PHOSPHO1 p.Ala135Val Uncertain significance Single submitter
- PHOSPHO1 p.Arg197His Uncertain significance Single submitter
- PHOSPHO1 p.Arg197Leu Uncertain significance Single submitter
- PHOSPHO1 p.Arg230Cys Uncertain significance Single submitter
- PHOSPHO1 p.Arg230Ser Uncertain significance Single submitter
- PHOSPHO1 p.Arg26Pro Uncertain significance Single submitter
- PHOSPHO1 p.Glu40Gln Uncertain significance Single submitter
- PHOSPHO1 p.Met72Leu Uncertain significance Single submitter
- PHOSPHO1 p.Thr165Ile Uncertain significance Single submitter
All PHOSPHO1 variants
Likely benign 2
- c.46-72G>C Single submitter
- p.Arg134= Single submitter
Uncertain significance 40
- c.46-105T>C Single submitter
- c.46-111C>G Single submitter
- c.46-113A>G Single submitter
- c.46-18T>C Single submitter
- c.46-74G>A Single submitter
- c.46-78C>T Single submitter
- c.46-95C>T Single submitter
- c.46-98G>C Single submitter
- p.Ala135Ser Single submitter ⚠
- p.Ala135Val Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Arg161Leu Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg197His Single submitter ⚠
- p.Arg197Leu Single submitter ⚠
- p.Arg230Cys Single submitter ⚠
- p.Arg230Ser Single submitter ⚠
- p.Arg26Pro Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Asp104Ala Single submitter ⚠
- p.Asp123Asn Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Gln112Glu Single submitter ⚠
- p.Gln236His Single submitter ⚠
- p.Gln53Arg Single submitter ⚠
- p.Glu35Gly Single submitter ⚠
- p.Glu40Gln Single submitter ⚠
- p.Gly101Asp Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly17Ser Single submitter ⚠
- p.Gly217Cys Single submitter ⚠
- p.Leu158Val Single submitter ⚠
- p.Leu213fs Single submitter
- p.Leu29Pro Single submitter ⚠
- p.Met72Leu Single submitter ⚠
- p.Pro210Ala Single submitter
- p.Ser122Pro Single submitter ⚠
- p.Ser167Thr Single submitter ⚠
- p.Thr165Ile Single submitter ⚠
- p.Val193Leu Single submitter ⚠