PHAX — 46 ClinVar variants
All ClinVar germline PHAX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Likely benign · 45 Uncertain significance
Full PHAX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PHAX p.Ala223Val Uncertain significance Single submitter
- PHAX p.Ala266Thr Uncertain significance Single submitter
- PHAX p.Ala43Thr Uncertain significance Single submitter
- PHAX p.Arg251Lys Uncertain significance Single submitter
- PHAX p.Arg281Gln Uncertain significance Single submitter
- PHAX p.Arg84Gln Uncertain significance Single submitter
- PHAX p.Asn126Asp Uncertain significance Single submitter
- PHAX p.Asn46Lys Uncertain significance Single submitter
- PHAX p.Asp128Asn Uncertain significance Single submitter
- PHAX p.Asp346Asn Uncertain significance Single submitter
- PHAX p.Asp346Gly Uncertain significance Single submitter
- PHAX p.Gln45Arg Uncertain significance Single submitter
- PHAX p.Glu124Val Uncertain significance Single submitter
- PHAX p.Glu177Ala Uncertain significance Single submitter
- PHAX p.Glu190Asp Uncertain significance Single submitter
- PHAX p.Glu190Lys Uncertain significance Single submitter
- PHAX p.Gly100Asp Uncertain significance Single submitter
- PHAX p.Gly11Glu Uncertain significance Single submitter
- PHAX p.Gly186Glu Uncertain significance Single submitter
- PHAX p.Gly273Arg Uncertain significance Single submitter
- PHAX p.Gly273Val Uncertain significance Single submitter
- PHAX p.Ile136Val Uncertain significance Single submitter
- PHAX p.Leu160Ile Uncertain significance Single submitter
- PHAX p.Leu274Arg Uncertain significance Single submitter
- PHAX p.Leu377Val Uncertain significance Single submitter
- PHAX p.Met8Arg Uncertain significance Single submitter
- PHAX p.Met8Val Uncertain significance Single submitter
- PHAX p.Phe44Ser Uncertain significance Single submitter
- PHAX p.Pro90Ser Uncertain significance Single submitter
- PHAX p.Pro91Ser Uncertain significance Single submitter
- PHAX p.Pro94Leu Uncertain significance Single submitter
- PHAX p.Ser62Asn Uncertain significance Single submitter
- PHAX p.Ser69Asn Uncertain significance Single submitter
- PHAX p.Thr47Met Uncertain significance Single submitter
- PHAX p.Val203Ile Uncertain significance Single submitter
- PHAX p.Val249Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PHAX p.Glu264Lys Uncertain significance Single submitter
- PHAX p.Glu9Lys Uncertain significance Single submitter
- PHAX p.Lys305Glu Uncertain significance Single submitter
- PHAX p.Met139Ile Uncertain significance Single submitter
- PHAX p.Met20Ile Uncertain significance Single submitter
- PHAX p.Tyr178Cys Uncertain significance Single submitter
All PHAX variants
Likely benign 1
- p.Ser149= Single submitter
Uncertain significance 45
- p.Ala223Val Single submitter ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Arg248Gln Single submitter
- p.Arg251Lys Single submitter ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Asn126Asp Single submitter ⚠
- p.Asn46Lys Single submitter ⚠
- p.Asp128Asn Single submitter ⚠
- p.Asp19Tyr Single submitter
- p.Asp346Asn Single submitter ⚠
- p.Asp346Gly Single submitter ⚠
- p.Gln45Arg Single submitter ⚠
- p.Glu124Val Single submitter ⚠
- p.Glu177Ala Single submitter ⚠
- p.Glu190Asp Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu264Lys Single submitter ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly100Asp Single submitter ⚠
- p.Gly11Glu Single submitter ⚠
- p.Gly186Glu Single submitter ⚠
- p.Gly273Arg Single submitter ⚠
- p.Gly273Val Single submitter ⚠
- p.Ile136Val Single submitter ⚠
- p.Leu160Ile Single submitter ⚠
- p.Leu274Arg Single submitter ⚠
- p.Leu377Val Single submitter ⚠
- p.Lys305Glu Single submitter ⚠
- p.Met139Ile Single submitter ⚠
- p.Met20Ile Single submitter ⚠
- p.Met8Arg Single submitter ⚠
- p.Met8Val Single submitter ⚠
- p.Phe44Ser Single submitter ⚠
- p.Pro90Ser Single submitter ⚠
- p.Pro91Ser Single submitter ⚠
- p.Pro94Leu Single submitter ⚠
- p.Ser62Asn Single submitter ⚠
- p.Ser69Asn Single submitter ⚠
- p.Thr47Met Single submitter ⚠
- p.Tyr178Cys Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val249Ile Single submitter ⚠
- p.Gln127Ter No assertion criteria Hirschsprung disease