PYGB — 154 ClinVar variants
All ClinVar germline PYGB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →
4 Benign · 7 Likely benign · 143 Uncertain significance
Full PYGB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 141
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 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PYGB p.Ala180Gly Uncertain significance Single submitter
- PYGB p.Ala406Ser Uncertain significance Single submitter
- PYGB p.Ala611Val Uncertain significance Single submitter
- PYGB p.Ala661Thr Uncertain significance Single submitter
- PYGB p.Ala696Thr Uncertain significance Single submitter
- PYGB p.Ala822Glu Uncertain significance Single submitter
- PYGB p.Arg270Trp Uncertain significance Single submitter
- PYGB p.Arg310Cys Uncertain significance Single submitter
- PYGB p.Arg310His Uncertain significance Single submitter
- PYGB p.Arg352Trp Uncertain significance Single submitter
- PYGB p.Arg44His Uncertain significance Single submitter
- PYGB p.Arg490His Uncertain significance Single submitter
- PYGB p.Arg491Gln Uncertain significance Single submitter
- PYGB p.Arg816Gln Uncertain significance Single submitter
- PYGB p.Arg82His Uncertain significance Single submitter
- PYGB p.Arg842Gln Uncertain significance Single submitter
- PYGB p.Arg842Trp Uncertain significance Single submitter
- PYGB p.Arg94Cys Uncertain significance Single submitter
- PYGB p.Arg94His Uncertain significance Single submitter
- PYGB p.Asn236Lys Uncertain significance Single submitter
- PYGB p.Asn33Ser Uncertain significance Single submitter
- PYGB p.Asn454Ser Uncertain significance Single submitter
- PYGB p.Asn485Ser Uncertain significance Single submitter
- PYGB p.Asn685Ser Uncertain significance Single submitter
- PYGB p.Asn728Asp Uncertain significance Single submitter
- PYGB p.Asn805Ser Uncertain significance Single submitter
- PYGB p.Asn839Ser Uncertain significance Single submitter
- PYGB p.Asp471Glu Uncertain significance Single submitter
- PYGB p.Asp528Glu Uncertain significance Single submitter
- PYGB p.Asp629Gly Uncertain significance Single submitter
- PYGB p.Asp843Tyr Uncertain significance Single submitter
- PYGB p.Cys373Phe Uncertain significance Single submitter
- PYGB p.Gln783Arg Uncertain significance Single submitter
- PYGB p.Glu124Lys Uncertain significance Single submitter
- PYGB p.Glu125Lys Uncertain significance Single submitter
- PYGB p.Glu265Lys Uncertain significance Single submitter
- PYGB p.Glu288Asp Uncertain significance Single submitter
- PYGB p.Glu434Lys Uncertain significance Single submitter
- PYGB p.Glu829Asp Uncertain significance Single submitter
- PYGB p.Glu829Lys Uncertain significance Single submitter
- PYGB p.Gly205Arg Uncertain significance Single submitter
- PYGB p.Gly21Glu Uncertain significance Single submitter
- PYGB p.Gly509Ala Uncertain significance Single submitter
- PYGB p.Gly613Asp Uncertain significance Single submitter
- PYGB p.Gly678Cys Uncertain significance Single submitter
- PYGB p.Gly691Ser Uncertain significance Single submitter
- PYGB p.Gly705Arg Uncertain significance Single submitter
- PYGB p.Ile463Met Uncertain significance Single submitter
- PYGB p.Ile487Thr Uncertain significance Single submitter
- PYGB p.Ile606Thr Uncertain significance Single submitter
- PYGB p.Ile835Phe Uncertain significance Single submitter
- PYGB p.Leu145Pro Uncertain significance Single submitter
- PYGB p.Leu516Pro Uncertain significance Single submitter
- PYGB p.Leu544Val Uncertain significance Single submitter
- PYGB p.Leu578Val Uncertain significance Single submitter
- PYGB p.Leu641Phe Uncertain significance Single submitter
- PYGB p.Lys254Asn Uncertain significance Single submitter
- PYGB p.Lys30Gln Uncertain significance Single submitter
- PYGB p.Lys725Glu Uncertain significance Single submitter
- PYGB p.Lys754Thr Uncertain significance Single submitter
- PYGB p.Lys801Glu Uncertain significance Single submitter
- PYGB p.Met148Val Uncertain significance Single submitter
- PYGB p.Met351Val Uncertain significance Single submitter
- PYGB p.Met442Thr Uncertain significance Single submitter
- PYGB p.Met605Leu Uncertain significance Single submitter
- PYGB p.Met680Thr Uncertain significance Single submitter
- PYGB p.Met683Val Uncertain significance Single submitter
- PYGB p.Phe38Leu Uncertain significance Single submitter
- PYGB p.Phe775Ser Uncertain significance Single submitter
- PYGB p.Phe812Leu Uncertain significance Single submitter
- PYGB p.Pro211Leu Uncertain significance Single submitter
- PYGB p.Ser31Thr Uncertain significance Single submitter
- PYGB p.Ser467Leu Uncertain significance Single submitter
- PYGB p.Ser527Ile Uncertain significance Single submitter
- PYGB p.Ser652Pro Uncertain significance Single submitter
- PYGB p.Ser752Phe Uncertain significance Single submitter
- PYGB p.Ser809Pro Uncertain significance Single submitter
- PYGB p.Ser813Phe Uncertain significance Single submitter
- PYGB p.Ser8Cys Uncertain significance Single submitter
- PYGB p.Thr150Ala Uncertain significance Single submitter
- PYGB p.Thr603Ser Uncertain significance Single submitter
- PYGB p.Thr625Asn Uncertain significance Single submitter
- PYGB p.Thr669Ile Uncertain significance Single submitter
- PYGB p.Trp245Arg Uncertain significance Single submitter
- PYGB p.Trp366Cys Uncertain significance Single submitter
- PYGB p.Tyr158Cys Uncertain significance Single submitter
- PYGB p.Tyr162Cys Uncertain significance Single submitter
- PYGB p.Tyr234Cys Uncertain significance Single submitter
- PYGB p.Tyr733His Uncertain significance Single submitter
- PYGB p.Tyr792Cys Uncertain significance Single submitter
- PYGB p.Val201Met Uncertain significance Single submitter
- PYGB p.Val207Met Uncertain significance Single submitter
- PYGB p.Val260Ala Uncertain significance Single submitter
- PYGB p.Val260Met Uncertain significance Single submitter
- PYGB p.Val357Leu Uncertain significance Single submitter
- PYGB p.Val415Met Uncertain significance Single submitter
- PYGB p.Val530Met Uncertain significance Single submitter
- PYGB p.Val630Asp Uncertain significance Single submitter
- PYGB p.Val637Leu Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- PYGB p.Ala247Ser Uncertain significance Single submitter
- PYGB p.Ala249Val Uncertain significance Single submitter
- PYGB p.Ala302Thr Uncertain significance Single submitter
- PYGB p.Arg410Gln Uncertain significance Single submitter
- PYGB p.Arg410Trp Uncertain significance Single submitter
- PYGB p.Arg425Cys Uncertain significance Single submitter
- PYGB p.Arg425His Uncertain significance Single submitter
- PYGB p.Arg439Gln Uncertain significance Single submitter
- PYGB p.Arg439Trp Uncertain significance Single submitter
- PYGB p.Arg793Trp Benign Single submitter
- PYGB p.Arg823Trp Uncertain significance Single submitter
- PYGB p.Asn632Ser Uncertain significance Single submitter
- PYGB p.Cys319Tyr Uncertain significance Single submitter
- PYGB p.Glu707Lys Uncertain significance Single submitter
- PYGB p.Glu720Lys Uncertain significance Single submitter
- PYGB p.Gly152Cys Uncertain significance Single submitter
- PYGB p.Gly187Ser Uncertain significance Single submitter
- PYGB p.Gly213Val Uncertain significance Single submitter
- PYGB p.His567Arg Uncertain significance Single submitter
- PYGB p.His633Tyr Uncertain significance Single submitter
- PYGB p.Ile658Met Uncertain significance Single submitter
- PYGB p.Ile711Met Uncertain significance Single submitter
- PYGB p.Ile818Val Uncertain significance Single submitter
- PYGB p.Leu516Val Uncertain significance Single submitter
- PYGB p.Leu519Val Uncertain significance Single submitter
- PYGB p.Leu663Val Uncertain significance Single submitter
- PYGB p.Lys371Thr Uncertain significance Single submitter
- PYGB p.Met782Arg Uncertain significance Single submitter
- PYGB p.Met92Val Uncertain significance Single submitter
- PYGB p.Pro49Leu Uncertain significance Single submitter
- PYGB p.Pro595Leu Uncertain significance Single submitter
- PYGB p.Pro795Leu Uncertain significance Single submitter
- PYGB p.Pro838Arg Uncertain significance Single submitter
- PYGB p.Thr329Met Uncertain significance Single submitter
- PYGB p.Thr672Ser Uncertain significance Single submitter
- PYGB p.Thr99Met Uncertain significance Single submitter
- PYGB p.Tyr197Cys Uncertain significance Single submitter
- PYGB p.Tyr204Cys Uncertain significance Single submitter
- PYGB p.Val207Leu Uncertain significance Single submitter
- PYGB p.Val556Leu Uncertain significance Single submitter
- PYGB p.Val630Phe Uncertain significance Single submitter
- PYGB p.Val788Ala Uncertain significance Single submitter
All PYGB variants
Benign 4
- p.Val415= Multiple submitters
- c.2312+9G>A Single submitter
- p.Ala180= Single submitter
- p.Arg793Trp Single submitter ⚠
Likely benign 7
- p.Ala57Gly Multiple submitters
- c.2313-577A>C Single submitter
- p.Arg793Gln Single submitter
- p.Ile806= Single submitter
- p.Pro659= Single submitter
- p.Ser831= Single submitter
- p.Val584Ile Single submitter
Uncertain significance 143
- p.Ala180Gly Single submitter ⚠
- p.Ala247Ser Single submitter ⚠
- p.Ala249Val Single submitter ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala406Ser Single submitter ⚠
- p.Ala611Val Single submitter ⚠
- p.Ala661Thr Single submitter ⚠
- p.Ala696Thr Single submitter ⚠
- p.Ala822Glu Single submitter ⚠
- p.Arg270Trp Single submitter ⚠
- p.Arg310Cys Single submitter ⚠
- p.Arg310His Single submitter ⚠
- p.Arg352Trp Single submitter ⚠
- p.Arg410Gln Single submitter ⚠
- p.Arg410Trp Single submitter ⚠
- p.Arg425Cys Single submitter ⚠
- p.Arg425His Single submitter ⚠
- p.Arg439Gln Single submitter ⚠
- p.Arg439Trp Single submitter ⚠
- p.Arg44His Single submitter ⚠
- p.Arg490His Single submitter ⚠
- p.Arg491Gln Single submitter ⚠
- p.Arg816Gln Single submitter ⚠
- p.Arg823Trp Single submitter ⚠
- p.Arg82His Single submitter ⚠
- p.Arg842Gln Single submitter ⚠
- p.Arg842Trp Single submitter ⚠
- p.Arg94Cys Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn236Lys Single submitter ⚠
- p.Asn33Ser Single submitter ⚠
- p.Asn454Ser Single submitter ⚠
- p.Asn485Ser Single submitter ⚠
- p.Asn632Ser Single submitter ⚠
- p.Asn685Ser Single submitter ⚠
- p.Asn728Asp Single submitter ⚠
- p.Asn805Ser Single submitter ⚠
- p.Asn839Ser Single submitter ⚠
- p.Asp110Asn Single submitter
- p.Asp471Glu Single submitter ⚠
- p.Asp528Glu Single submitter ⚠
- p.Asp629Gly Single submitter ⚠
- p.Asp843Tyr Single submitter ⚠
- p.Cys319Tyr Single submitter ⚠
- p.Cys373Phe Single submitter ⚠
- p.Gln783Arg Single submitter ⚠
- p.Glu124Lys Single submitter ⚠
- p.Glu125Lys Single submitter ⚠
- p.Glu265Lys Single submitter ⚠
- p.Glu288Asp Single submitter ⚠
- p.Glu434Lys Single submitter ⚠
- p.Glu707Lys Single submitter ⚠
- p.Glu720Lys Single submitter ⚠
- p.Glu829Asp Single submitter ⚠
- p.Glu829Lys Single submitter ⚠
- p.Gly152Cys Single submitter ⚠
- p.Gly187Ser Single submitter ⚠
- p.Gly205Arg Single submitter ⚠
- p.Gly213Val Single submitter ⚠
- p.Gly21Glu Single submitter ⚠
- p.Gly509Ala Single submitter ⚠
- p.Gly613Asp Single submitter ⚠
- p.Gly678Cys Single submitter ⚠
- p.Gly691Ser Single submitter ⚠
- p.Gly705Arg Single submitter ⚠
- p.His567Arg Single submitter ⚠
- p.His633Tyr Single submitter ⚠
- p.Ile264Leu Single submitter
- p.Ile463Met Single submitter ⚠
- p.Ile487Thr Single submitter ⚠
- p.Ile606Thr Single submitter ⚠
- p.Ile658Met Single submitter ⚠
- p.Ile711Met Single submitter ⚠
- p.Ile762Thr Single submitter
- p.Ile818Val Single submitter ⚠
- p.Ile835Phe Single submitter ⚠
- p.Leu145Pro Single submitter ⚠
- p.Leu516Pro Single submitter ⚠
- p.Leu516Val Single submitter ⚠
- p.Leu519Val Single submitter ⚠
- p.Leu544Val Single submitter ⚠
- p.Leu578Val Single submitter ⚠
- p.Leu641Phe Single submitter ⚠
- p.Leu663Val Single submitter ⚠
- p.Lys254Asn Single submitter ⚠
- p.Lys30Gln Single submitter ⚠
- p.Lys371Thr Single submitter ⚠
- p.Lys725Glu Single submitter ⚠
- p.Lys754Thr Single submitter ⚠
- p.Lys801Glu Single submitter ⚠
- p.Met148Val Single submitter ⚠
- p.Met351Val Single submitter ⚠
- p.Met442Thr Single submitter ⚠
- p.Met605Leu Single submitter ⚠
- p.Met680Thr Single submitter ⚠
- p.Met683Val Single submitter ⚠
- p.Met782Arg Single submitter ⚠
- p.Met92Val Single submitter ⚠
- p.Phe38Leu Single submitter ⚠
- p.Phe775Ser Single submitter ⚠
- p.Phe812Leu Single submitter ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro49Leu Single submitter ⚠
- p.Pro595Leu Single submitter ⚠
- p.Pro795Leu Single submitter ⚠
- p.Pro838Arg Single submitter ⚠
- p.Ser31Thr Single submitter ⚠
- p.Ser467Leu Single submitter ⚠
- p.Ser527Ile Single submitter ⚠
- p.Ser652Pro Single submitter ⚠
- p.Ser752Phe Single submitter ⚠
- p.Ser809Pro Single submitter ⚠
- p.Ser813Phe Single submitter ⚠
- p.Ser8Cys Single submitter ⚠
- p.Thr150Ala Single submitter ⚠
- p.Thr329Met Single submitter ⚠
- p.Thr603Ser Single submitter ⚠
- p.Thr625Asn Single submitter ⚠
- p.Thr669Ile Single submitter ⚠
- p.Thr672Ser Single submitter ⚠
- p.Thr99Met Single submitter ⚠
- p.Trp245Arg Single submitter ⚠
- p.Trp366Cys Single submitter ⚠
- p.Tyr158Cys Single submitter ⚠
- p.Tyr162Cys Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠
- p.Tyr204Cys Single submitter ⚠
- p.Tyr234Cys Single submitter ⚠
- p.Tyr733His Single submitter ⚠
- p.Tyr792Cys Single submitter ⚠
- p.Val201Met Single submitter ⚠
- p.Val207Leu Single submitter ⚠
- p.Val207Met Single submitter ⚠
- p.Val260Ala Single submitter ⚠
- p.Val260Met Single submitter ⚠
- p.Val357Leu Single submitter ⚠
- p.Val415Met Single submitter ⚠
- p.Val530Met Single submitter ⚠
- p.Val556Leu Single submitter ⚠
- p.Val630Asp Single submitter ⚠
- p.Val630Phe Single submitter ⚠
- p.Val637Leu Single submitter ⚠
- p.Val788Ala Single submitter ⚠