PHKA2 — 719 ClinVar variants

All ClinVar germline PHKA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 291 flagged for review →

58 Pathogenic · 15 Pathogenic/Likely pathogenic · 54 Likely pathogenic · 32 Conflicting · 39 Benign · 28 Benign/Likely benign · 208 Likely benign · 285 Uncertain significance

Full PHKA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 291

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

PHKA2 p.Ala146Ser Likely pathogenic Single submitter
glycogen storage disease IXa1
PHKA2 p.Glu415Asp Likely pathogenic No assertion criteria
glycogen storage disease IXa1

Predictors agree, ClinVar conflicts 18

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PHKA2 p.Ala929Pro Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg295His Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg295Leu Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg497Gln Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Asn449Ser Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Glu1125Lys Conflicting Single submitter
PHKA2-related disorder
PHKA2 p.Gly1097Ser Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly300Ser Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly575Asp Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Ile1058Met Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Ile241Val Conflicting Single submitter
PHKA2-related disorder
PHKA2 p.Leu1128Pro Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Met912Thr Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Ser1022Thr Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Ser735Ala Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Thr1153Met Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Thr557Arg Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Tyr116Cys Conflicting Single submitter
disorder of glycogen metabolism

Predictors lean, ClinVar uncertain 162

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 162

PHKA2 p.Ala15Val Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Arg1111Gln Uncertain significance Multiple submitters
PHKA2 p.Arg930Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Asp128Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Asp950Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Cys326Tyr Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Cys553Arg Uncertain significance Multiple submitters
PHKA2-related disorder
PHKA2 p.Cys934Arg Uncertain significance Multiple submitters
PHKA2 p.Gly131Val Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Gly258Arg Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Gly596Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Ile1182Val Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Leu829Val Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Lys875Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Met183Val Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Phe331Leu Uncertain significance Multiple submitters
PHKA2 p.Pro498Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Pro867Leu Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Ser1049Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Ser250Leu Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Ser796Pro Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Thr158Ile Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Thr552Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Tyr1201His Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Tyr301His Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Val803Ile Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Val889Ile Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Ala1027Val Uncertain significance Single submitter
PHKA2 p.Ala114Thr Uncertain significance Single submitter
PHKA2 p.Ala150Thr Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ala163Thr Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Ala175Val Uncertain significance Single submitter
PHKA2 p.Ala420Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ala466Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ala706Gly Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Ala925Gly Uncertain significance Single submitter
PHKA2 p.Arg1063Gln Uncertain significance Single submitter
PHKA2 p.Arg1069Cys Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg1137Pro Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg1137Trp Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg224Leu Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Arg310Gln Uncertain significance Single submitter
PHKA2 p.Arg367Cys Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg514Lys Uncertain significance Single submitter
PHKA2 p.Arg687Leu Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Arg824Pro Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Asn198Lys Uncertain significance Single submitter
PHKA2 p.Asn536Ser Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Asn6Ser Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Asn794Ser Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Asp1101Gly Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Asp1178Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Asp1186Ala Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Asp1186Gly Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Asp127Asn Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Asp160Gly Uncertain significance Single submitter
PHKA2 p.Asp180Asn Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Asp272His Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Asp391Asn Uncertain significance Single submitter
PHKA2 p.Asp622Asn Uncertain significance Single submitter
PHKA2 p.Cys1095Tyr Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Cys326Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Cys652Trp Uncertain significance Single submitter
PHKA2 p.Cys841Tyr Uncertain significance Single submitter
PHKA2 p.Cys91Tyr Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Gln134Arg Uncertain significance Single submitter
disorder of glycogen metabolism
PHKA2 p.Gln516His Uncertain significance Single submitter
PHKA2 p.Gln922Pro Uncertain significance Single submitter
PHKA2 p.Glu1142Lys Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Glu1154Asp Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Glu185Asp Uncertain significance Single submitter
disorder of glycogen metabolism
PHKA2 p.Glu196Lys Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Glu306Asp Uncertain significance Single submitter
PHKA2 p.Glu590Lys Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Glu633Lys Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Glu659Gly Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Glu659Lys Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly1047Asp Uncertain significance Single submitter
PHKA2 p.Gly1059Ser Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Gly1097Arg Uncertain significance Single submitter
PHKA2 p.Gly1207Glu Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Gly131Ser Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly203Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly292Glu Uncertain significance Single submitter
PHKA2 p.Gly300Asp Uncertain significance Single submitter
PHKA2 p.Gly300Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly487Glu Uncertain significance Single submitter
PHKA2 p.Gly56Asp Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly592Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.His1163Pro Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.His132Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.His37Arg Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Ile451Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ile586Ser Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ile586Val Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Leu1139Arg Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Leu320Pro Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Leu494Phe Uncertain significance Single submitter
PHKA2 p.Leu915Phe Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Leu946Phe Uncertain significance Single submitter
PHKA2 p.Leu955Pro Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Lys103Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Lys385Glu Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Lys705Glu Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Lys721Glu Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Met1010Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Met395Val Uncertain significance Single submitter
PHKA2 p.Met570Thr Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Met85Ile Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Met944Ile Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Phe170Ser Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Phe218Leu Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Phe713Leu Uncertain significance Single submitter
PHKA2 p.Pro1042Leu Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Pro1042Ser Uncertain significance Single submitter
PHKA2 p.Pro1081Leu Uncertain significance Single submitter
PHKA2 p.Pro1115Leu Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Pro1115Ser Uncertain significance Single submitter
disorder of glycogen metabolism
PHKA2 p.Pro247Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Pro266Leu Uncertain significance Single submitter
PHKA2 p.Pro329Ser Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Pro329Thr Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Pro475Leu Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Pro498Ser Uncertain significance Single submitter
PHKA2 p.Pro498Thr Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ser1036Pro Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Ser1039Thr Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Ser1043Pro Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ser1172Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ser508Phe Uncertain significance Single submitter
PHKA2 p.Ser746Asn Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Ser846Trp Uncertain significance Single submitter
PHKA2 p.Ser940Phe Uncertain significance Single submitter
PHKA2 p.Ser998Gly Uncertain significance Single submitter
PHKA2 p.Thr1041Ala Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Thr105Ile Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Thr1148Ala Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Thr1156Ala Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Thr138Ala Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Thr507Ala Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Thr507Ile Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Thr926Lys Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Thr990Ile Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Trp328Arg Uncertain significance Single submitter
PHKA2 p.Tyr1136His Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Tyr116Asn Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Tyr1209Phe Uncertain significance Single submitter
PHKA2 p.Tyr613Cys Uncertain significance Single submitter
PHKA2 p.Val1104Ala Uncertain significance Single submitter
PHKA2 p.Val1141Glu Uncertain significance Single submitter
glycogen storage disease IXa1

Predictors split 109

The independent predictors disagree with each other — read with care.

PHKA2 p.Ala179Thr Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Ala257Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Arg154Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Arg290His Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Arg361Gly Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Arg500Gln Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Arg971Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Cys1197Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.Glu963Asp Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Gly815Ser Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Gly991Ala Uncertain significance Multiple submitters
PHKA2 p.His847Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PHKA2 p.His985Leu Benign/Likely benign Multiple submitters
Inborn genetic diseases
PHKA2 p.Ile262Ser Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Leu1105Phe Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Pro376Leu Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Thr521Ala Uncertain significance Multiple submitters
glycogen storage disease IXa1
PHKA2 p.Ala1204Thr Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Ala163Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ala249Thr Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Ala354Thr Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Ala374Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ala65Ser Uncertain significance Single submitter
PHKA2 p.Arg1063Trp Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg1069His Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg1130Cys Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg2Gly Conflicting Single submitter
glycogen storage disease IX
PHKA2 p.Arg488Trp Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg4Gly Uncertain significance Single submitter
PHKA2 p.Arg62His Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Arg67Cys Uncertain significance Single submitter
PHKA2 p.Arg67Gly Uncertain significance Single submitter
PHKA2 p.Arg67His Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Arg67Ser Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg727Cys Likely benign Single submitter
Inborn genetic diseases
PHKA2 p.Arg860Gln Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Arg860Trp Likely benign Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg86Gln Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg930Trp Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Arg971Leu Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Arg971Ser Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Asp344Glu Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Asp344Val Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Asp526Asn Conflicting Single submitter
glycogen storage disease IXa1
PHKA2 p.Asp535Asn Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Asp535Gly Uncertain significance Single submitter
PHKA2 p.Asp68Asn Uncertain significance Single submitter
PHKA2 p.Asp775Gly Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Glu1112Asp Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Glu1117Lys Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Glu356Gly Uncertain significance Single submitter
PHKA2 p.Glu76Lys Conflicting Single submitter
PHKA2-related disorder
PHKA2 p.Glu835Gln Uncertain significance Single submitter
PHKA2 p.Glu835Lys Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly1102Cys Uncertain significance Single submitter
PHKA2 p.Gly1159Arg Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Gly13Arg Likely benign Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly357Val Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Gly403Cys Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Gly797Arg Uncertain significance Single submitter
PHKA2 p.Gly821Val Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly965Asp Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Gly991Arg Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.His1096Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.His1096Tyr Uncertain significance Single submitter
PHKA2 p.His847Tyr Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.His956Gln Uncertain significance Single submitter
PHKA2 p.Ile1077Thr Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ile241Leu Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ile502Thr Uncertain significance Single submitter
PHKA2-related disorder
PHKA2 p.Ile513Met Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Ile826Met Uncertain significance Single submitter
PHKA2 p.Ile864Val Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Leu619Pro Uncertain significance Single submitter
PHKA2 p.Leu773Pro Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Leu851Phe Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Lys1119Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Lys1119Thr Uncertain significance Single submitter
PHKA2 p.Lys73Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Met204Val Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Met93Ile Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Met93Val Uncertain significance Single submitter
PHKA2 p.Met951Val Likely benign Single submitter
Inborn genetic diseases
PHKA2 p.Pro315Arg Likely benign Single submitter
Inborn genetic diseases
PHKA2 p.Pro719Leu Uncertain significance Single submitter
PHKA2 p.Ser1126Leu Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ser3Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ser960Arg Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Thr1109Lys Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Thr1114Asn Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Thr1114Ile Pathogenic Single submitter
glycogen storage disease IXa1
PHKA2 p.Thr1213Ser Likely benign Single submitter
glycogen storage disease IXa1
PHKA2 p.Thr123Met Uncertain significance Single submitter
PHKA2 p.Thr572Arg Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Thr993Ala Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Trp791Cys Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Tyr384Cys Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Tyr407Phe Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Tyr75Ser Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Val1080Ile Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Val1088Leu Uncertain significance Single submitter
Inborn genetic diseases
PHKA2 p.Val1088Met Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Val270Met Uncertain significance Single submitter
PHKA2-related disorder
PHKA2 p.Val276Leu Uncertain significance Single submitter
PHKA2 p.Val540Met Conflicting Single submitter
Inborn genetic diseases
PHKA2 p.Val801Phe Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Val896Phe Uncertain significance Single submitter
glycogen storage disease IXa1
PHKA2 p.Ile984Thr Benign No assertion criteria
Abnormality of neuronal migration
PHKA2 p.Thr1148Met Uncertain significance No assertion criteria

All PHKA2 variants

Pathogenic 58

p.Arg1111Ter Multiple submitters glycogen storage disease IXa1
p.Arg392Ter Multiple submitters glycogen storage disease IXa1
p.Glu1112Ter Multiple submitters PHKA2-related disorder
p.Trp402Ter Multiple submitters glycogen storage disease IXa1
c.1138-2A>G Single submitter glycogen storage disease IXa1
c.1324+1G>A Single submitter glycogen storage disease IXa1
c.1794-8_1812del Single submitter glycogen storage disease IXa1
c.2806+2T>C Single submitter
c.285+1del Single submitter
c.3329_3336+6del Single submitter glycogen storage disease IXa1
p.Arg298Pro Single submitter glycogen storage disease IXa1
p.Arg298Ter Single submitter glycogen storage disease IXa1
p.Arg352Ter Single submitter glycogen storage disease IXa1
p.Arg497Ter Single submitter glycogen storage disease IXa1
p.Arg824Cys Single submitter glycogen storage disease IXa1
p.Gln1133Ter Single submitter glycogen storage disease IXa1
p.Gln1177Ter Single submitter glycogen storage disease IXa1
p.Gln134Ter Single submitter
p.Gln404Ter Single submitter glycogen storage disease IXa1
p.Gln463Ter Single submitter
p.Gln474Ter Single submitter glycogen storage disease IXa1
p.Gln516Ter Single submitter glycogen storage disease IXa1
p.Gln657Ter Single submitter glycogen storage disease IXa1
p.Gln737Ter Single submitter glycogen storage disease IXa1
p.Gln79Ter Single submitter glycogen storage disease IXa1
p.Glu872Ter Single submitter glycogen storage disease IXa1
p.Gly487Ter Single submitter Inborn genetic diseases
p.His132Pro Single submitter glycogen storage disease IXa1
p.His501fs Single submitter glycogen storage disease IXa1
p.Ile1100fs Single submitter Aland island eye disease
p.Leu32fs Single submitter glycogen storage disease IXa1
p.Leu822fs Single submitter glycogen storage disease IXa1
p.Leu837delinsHisValTer Single submitter glycogen storage disease IXa1
p.Leu928fs Single submitter glycogen storage disease IXa1
p.Met1010fs Single submitter glycogen storage disease IXa1
p.Met1fs Single submitter glycogen storage disease IXa1
p.Met924fs Single submitter glycogen storage disease IXa1
p.Phe141fs Single submitter PHKA2-related disorder
p.Pro195fs Single submitter glycogen storage disease IXa1
p.Ser1126Ter Single submitter glycogen storage disease IXa1
p.Thr105fs Single submitter glycogen storage disease IXa1
p.Thr1109fs Single submitter glycogen storage disease IXa1
p.Thr1114Ile Single submitter glycogen storage disease IXa1 ⚠
p.Thr793fs Single submitter glycogen storage disease IXa1
p.Thr891fs Single submitter
p.Trp554Ter Single submitter glycogen storage disease IXa1
p.Tyr116Ter Single submitter
p.Val1127fs Single submitter glycogen storage disease IXa1
c.717+1G>T No assertion criteria glycogen storage disease IXa1
c.718-2A>G No assertion criteria glycogen storage disease IXa1
p.Arg1111_Glu1112insThrArg No assertion criteria glycogen storage disease IXa2
p.Asp299Gly No assertion criteria glycogen storage disease IXa1
p.Asp757Ter No assertion criteria glycogen storage disease IXa1
p.Gln1009Ter No assertion criteria glycogen storage disease IXa1
p.Gln766Ter No assertion criteria glycogen storage disease IXa1
p.Phe141del No assertion criteria glycogen storage disease IXa1
p.Ser1049Ter No assertion criteria glycogen storage disease IXa1
p.Thr251del No assertion criteria glycogen storage disease IXa2

Pathogenic/Likely pathogenic 15

c.2597+1G>A Multiple submitters glycogen storage disease IXa1
c.537+2T>C Multiple submitters glycogen storage disease IXa1
c.918+1G>A Multiple submitters glycogen storage disease IXa1
p.Arg1072del Multiple submitters glycogen storage disease IXa1
p.Arg186Cys Multiple submitters glycogen storage disease IXa1
p.Arg295Cys Multiple submitters PHKA2-related disorder
p.Arg45Gln Multiple submitters PHKA2-related disorder
p.Arg45Trp Multiple submitters glycogen storage disease IXa1
p.Arg86Ter Multiple submitters Inborn genetic diseases
p.Arg916Trp Multiple submitters glycogen storage disease IXa1
p.Gly1210Glu Multiple submitters glycogen storage disease IXa1
p.His132Tyr Multiple submitters Inborn genetic diseases
p.Met1Val Multiple submitters glycogen storage disease IXa1
p.Pro1205Leu Multiple submitters glycogen storage disease IXa1
p.Ser796fs Multiple submitters glycogen storage disease IXa1

Likely pathogenic 54

c.1325-2A>G Multiple submitters glycogen storage disease IXa1
p.Arg186His Multiple submitters glycogen storage disease IXa1
c.1042-1G>A Single submitter glycogen storage disease IXa1
c.1137+2T>C Single submitter glycogen storage disease IXa1
c.1325-1G>A Single submitter glycogen storage disease IXa1
c.1714+1G>A Single submitter glycogen storage disease IXa1
c.237+1G>T Single submitter glycogen storage disease IXa1
c.2518-1G>A Single submitter glycogen storage disease IXa1
c.285+2_285+5del Single submitter glycogen storage disease IXa1
c.2909-1G>T Single submitter glycogen storage disease IXa1
c.3112-2A>G Single submitter glycogen storage disease IXa1
c.3283-1G>C Single submitter glycogen storage disease IXa1
c.3336+1dup Single submitter glycogen storage disease IXa1
c.3336+2T>A Single submitter glycogen storage disease IXa1
c.455-5_463del Single submitter glycogen storage disease IXa1
c.717+1G>A Single submitter glycogen storage disease IXa1
c.79-2A>T Single submitter glycogen storage disease IXa1
c.919-1G>A Single submitter glycogen storage disease IXa1
c.919-2A>G Single submitter glycogen storage disease IXa1
p.Ala146Ser Single submitter glycogen storage disease IXa1 ⚠
p.Arg186Pro Single submitter glycogen storage disease IXa1
p.Asp127fs Single submitter PHKA2-related disorder
p.Asp12Gly Single submitter glycogen storage disease IXa1
p.Gln1166Ter Single submitter
p.Gln1169Ter Single submitter glycogen storage disease IXa1
p.Gln922Ter Single submitter glycogen storage disease IXa1
p.Glu1142fs Single submitter PHKA2-related disorder
p.Glu382fs Single submitter
p.Gly187Arg Single submitter glycogen storage disease IXa1
p.Gly187Glu Single submitter
p.His694fs Single submitter glycogen storage disease IXa1
p.His799fs Single submitter
p.Leu1188fs Single submitter PHKA2-related disorder
p.Leu1215_Thr1216insIle Single submitter glycogen storage disease IXa1
p.Leu372fs Single submitter glycogen storage disease IXa1
p.Leu445fs Single submitter PHKA2-related disorder
p.Leu955del Single submitter glycogen storage disease IXa1
p.Lys1119Ter Single submitter glycogen storage disease IXa1
p.Lys189Glu Single submitter glycogen storage disease IXa1
p.Phe1200del Single submitter
p.Pro869Arg Single submitter glycogen storage disease IX
p.Ser1051Ter Single submitter glycogen storage disease IXa1
p.Ser495fs Single submitter glycogen storage disease IXa1
p.Ser907fs Single submitter glycogen storage disease IXa1
p.Thr1211Arg Single submitter disorder of glycogen metabolism
p.Trp43Ser Single submitter glycogen storage disease IXa1
p.Trp750Ter Single submitter glycogen storage disease IXa1
p.Tyr49Ter Single submitter glycogen storage disease IXa1
p.Val169fs Single submitter
p.Asp136fs No assertion criteria glycogen storage disease IXa1
p.Gln1064Ter No assertion criteria PHKA2-related disorder
p.Glu415Asp No assertion criteria glycogen storage disease IXa1 ⚠
p.Gly812fs No assertion criteria glycogen storage disease IXa1
p.Ser139Pro No assertion criteria glycogen storage disease IXa1

Conflicting classifications of pathogenicity 32

c.1569+3G>A Single submitter glycogen storage disease IXa1
c.2597+2dup Single submitter glycogen storage disease IXa1
c.3058-1G>A Single submitter glycogen storage disease IX
p.Ala354Thr Single submitter Inborn genetic diseases ⚠
p.Ala929Pro Single submitter glycogen storage disease IXa1 ⚠
p.Arg1130Cys Single submitter glycogen storage disease IXa1 ⚠
p.Arg295His Single submitter glycogen storage disease IXa1 ⚠
p.Arg295Leu Single submitter glycogen storage disease IXa1 ⚠
p.Arg2Gly Single submitter glycogen storage disease IX ⚠
p.Arg497Gln Single submitter glycogen storage disease IXa1 ⚠
p.Arg67His Single submitter Inborn genetic diseases ⚠
p.Arg930Trp Single submitter glycogen storage disease IXa1 ⚠
p.Asn449Ser Single submitter Inborn genetic diseases ⚠
p.Asp526Asn Single submitter glycogen storage disease IXa1 ⚠
p.Asp535Asn Single submitter Inborn genetic diseases ⚠
p.Glu1125Lys Single submitter PHKA2-related disorder ⚠
p.Glu76Lys Single submitter PHKA2-related disorder ⚠
p.Gly1097Ser Single submitter glycogen storage disease IXa1 ⚠
p.Gly300Ser Single submitter glycogen storage disease IXa1 ⚠
p.Gly575Asp Single submitter Inborn genetic diseases ⚠
p.Gly991Arg Single submitter Inborn genetic diseases ⚠
p.Ile1058Met Single submitter Inborn genetic diseases ⚠
p.Ile241Val Single submitter PHKA2-related disorder ⚠
p.Leu1128Pro Single submitter glycogen storage disease IXa1 ⚠
p.Met912Thr Single submitter glycogen storage disease IXa1 ⚠
p.Ser1022Thr Single submitter Inborn genetic diseases ⚠
p.Ser735Ala Single submitter Inborn genetic diseases ⚠
p.Thr1153Met Single submitter Inborn genetic diseases ⚠
p.Thr1216fs Single submitter glycogen storage disease IXa1
p.Thr557Arg Single submitter Inborn genetic diseases ⚠
p.Tyr116Cys Single submitter disorder of glycogen metabolism ⚠
p.Val540Met Single submitter Inborn genetic diseases ⚠

Benign 39

c.1041+22C>T Multiple submitters
c.1042-116C>T Multiple submitters
c.1324+125G>A Multiple submitters
c.1794-72G>A Multiple submitters
c.2361-12A>C Multiple submitters glycogen storage disease IXa1
c.2517+75C>T Multiple submitters
c.2807-41C>T Multiple submitters
c.3112-61C>T Multiple submitters
c.3336+76C>T Multiple submitters
c.619-115T>A Multiple submitters
c.718-3C>T Multiple submitters glycogen storage disease IXa1
c.-24C>T Multiple submitters
p.Gln1235= Multiple submitters glycogen storage disease IXa1
p.Gly812= Multiple submitters glycogen storage disease IXa1
p.Ile283= Multiple submitters glycogen storage disease IXa1
p.Leu844= Multiple submitters glycogen storage disease IXa1
p.Ser724= Multiple submitters glycogen storage disease IXa1
p.Thr651Asn Multiple submitters glycogen storage disease IXa1
c.1460-152C>T Single submitter
c.1460-214T>C Single submitter
c.1715-14C>T Single submitter glycogen storage disease IXa1
c.1964-238T>C Single submitter
c.2138-51del Single submitter
c.238-88A>G Single submitter
c.2518-45_2518-44del Single submitter
c.2806+16C>T Single submitter glycogen storage disease IXa1
c.285+164del Single submitter
c.3028-328dup Single submitter
c.3112-14T>C Single submitter glycogen storage disease IXa1
c.3112-27T>C Single submitter
c.79-19del Single submitter glycogen storage disease IXa1
c.919-300A>G Single submitter
p.Glu986Lys Single submitter glycogen storage disease IXa1
p.His388= Single submitter glycogen storage disease IXa1
p.His799= Single submitter glycogen storage disease IXa1
p.Pro1134= Single submitter glycogen storage disease IXa1
p.Thr926= Single submitter glycogen storage disease IXa1
p.Val1023= Single submitter glycogen storage disease IXa1
p.Ile984Thr No assertion criteria Abnormality of neuronal migration ⚠

Benign/Likely benign 28

c.1042-17A>G Multiple submitters glycogen storage disease IXa1
c.1246-12C>T Multiple submitters glycogen storage disease IXa1
c.1793+18T>A Multiple submitters glycogen storage disease IXa1
c.1964-7A>G Multiple submitters genetic developmental and epileptic encephalopathy
c.2518-5C>T Multiple submitters glycogen storage disease IXa1
c.2806+13C>A Multiple submitters glycogen storage disease IXa1
c.3282+13G>A Multiple submitters glycogen storage disease IXa1
c.3336+17G>A Multiple submitters glycogen storage disease IXa1
p.Ala466= Multiple submitters glycogen storage disease IXa1
p.Ala466Thr Multiple submitters Inborn genetic diseases
p.Arg1063= Multiple submitters glycogen storage disease IXa1
p.Arg248= Multiple submitters glycogen storage disease IXa1
p.Gln527Glu Multiple submitters Inborn genetic diseases
p.Glu38Gln Multiple submitters glycogen storage disease IXa1
p.Gly416Arg Multiple submitters glycogen storage disease IXa1
p.His985Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile545Met Multiple submitters glycogen storage disease IXa1
p.Ile693Val Multiple submitters glycogen storage disease IXa1
p.Leu589= Multiple submitters glycogen storage disease IXa1
p.Met1170Thr Multiple submitters Inborn genetic diseases
p.Met716Val Multiple submitters glycogen storage disease IXa1
p.Phe321= Multiple submitters glycogen storage disease IXa1
p.Pro1081= Multiple submitters glycogen storage disease IXa1
p.Pro856= Multiple submitters glycogen storage disease IXa1
p.Ser632= Multiple submitters glycogen storage disease IXa1
p.Thr1109= Multiple submitters glycogen storage disease IXa1
p.Thr158Ala Multiple submitters glycogen storage disease IXa1
p.Val44= Multiple submitters glycogen storage disease IXa1

Likely benign 208

c.1041+10T>C Multiple submitters glycogen storage disease IXa1
c.1137+17G>A Multiple submitters glycogen storage disease IXa1
c.1324+11G>C Multiple submitters glycogen storage disease IXa1
c.1460-43C>T Multiple submitters
c.1794-16G>A Multiple submitters glycogen storage disease IXa1
c.2227-13C>T Multiple submitters glycogen storage disease IXa1
c.2807-18C>T Multiple submitters glycogen storage disease IXa1
c.2908+122T>C Multiple submitters
c.3027+48C>A Multiple submitters
c.3282+14C>T Multiple submitters glycogen storage disease IXa1
c.3337-6T>C Multiple submitters glycogen storage disease IXa1
c.454+124C>T Multiple submitters
c.455-10T>C Multiple submitters glycogen storage disease IXa1
c.78+10G>A Multiple submitters glycogen storage disease IXa1
p.Ala1031Val Multiple submitters glycogen storage disease IXa1
p.Arg1013Gln Multiple submitters glycogen storage disease IXa1
p.Arg544= Multiple submitters glycogen storage disease IXa1
p.Arg568Cys Multiple submitters Inborn genetic diseases
p.Asp643His Multiple submitters Inborn genetic diseases
p.Glu1189= Multiple submitters glycogen storage disease IXa1
p.Gly800Arg Multiple submitters glycogen storage disease IXa1
p.His113= Multiple submitters glycogen storage disease IXa1
p.Ile586= Multiple submitters
p.Ile920= Multiple submitters
p.Leu455= Multiple submitters
p.Leu660Phe Multiple submitters glycogen storage disease IXa1
p.Leu890= Multiple submitters glycogen storage disease IXa1
p.Pro195= Multiple submitters glycogen storage disease IXa1
p.Pro719= Multiple submitters glycogen storage disease IXa1
p.Pro789Ser Multiple submitters glycogen storage disease IXa1
p.Ser1151= Multiple submitters glycogen storage disease IXa1
p.Ser1206Thr Multiple submitters glycogen storage disease IXa1
p.Ser405= Multiple submitters glycogen storage disease IXa1
p.Ser411Leu Multiple submitters Inborn genetic diseases
p.Ser771= Multiple submitters glycogen storage disease IXa1
p.Thr118= Multiple submitters glycogen storage disease IXa1
p.Tyr1222Ser Multiple submitters Inborn genetic diseases
p.Tyr49= Multiple submitters glycogen storage disease IXa1
p.Val1082Met Multiple submitters glycogen storage disease IXa1
p.Val202Ile Multiple submitters Inborn genetic diseases
p.Val227= Multiple submitters glycogen storage disease IXa1
p.Val99Met Multiple submitters glycogen storage disease IXa1
c.1137+147C>T Single submitter
c.1138-15T>G Single submitter glycogen storage disease IXa1
c.1245+14G>A Single submitter
c.1245+9T>C Single submitter glycogen storage disease IXa1
c.1324+11G>A Single submitter glycogen storage disease IXa1
c.1324+27T>C Single submitter
c.1459+17del Single submitter
c.1460-117C>G Single submitter
c.1460-5A>C Single submitter glycogen storage disease IXa1
c.1714+14T>C Single submitter
c.1715-19C>G Single submitter glycogen storage disease IXa1
c.1715-3T>C Single submitter
c.1715-7T>C Single submitter
c.1793+19A>T Single submitter
c.1793+8G>T Single submitter glycogen storage disease IXa1
c.1964-125C>T Single submitter
c.1964-141G>A Single submitter
c.1964-15C>A Single submitter glycogen storage disease IXa1
c.2137+110C>T Single submitter
c.2138-52_2138-51del Single submitter
c.2360+12A>G Single submitter glycogen storage disease IXa1
c.2361-124C>A Single submitter
c.238-18T>G Single submitter glycogen storage disease IXa1
c.2517+3C>T Single submitter
c.2518-16C>G Single submitter glycogen storage disease IXa1
c.2518-4G>A Single submitter
c.2597+11A>C Single submitter
c.2598-14A>G Single submitter glycogen storage disease IXa1
c.2677-17G>A Single submitter glycogen storage disease IXa1
c.2806+11C>T Single submitter glycogen storage disease IXa1
c.2806+12G>A Single submitter glycogen storage disease IXa1
c.2807-11T>C Single submitter glycogen storage disease IXa1
c.2807-46G>A Single submitter
c.285+12C>T Single submitter glycogen storage disease IXa1
c.285+16A>G Single submitter glycogen storage disease IXa1
c.285+20G>A Single submitter
c.286-145G>A Single submitter
c.286-15T>A Single submitter glycogen storage disease IXa1
c.286-17C>A Single submitter
c.2909-21GT[6] Single submitter
c.2909-3C>T Single submitter
c.2909-7C>T Single submitter
c.3027+10C>T Single submitter glycogen storage disease IXa1
c.3027+19C>G Single submitter glycogen storage disease IXa1
c.3027+8C>A Single submitter glycogen storage disease IXa1
c.3111+14G>A Single submitter glycogen storage disease IXa1
c.3111+14G>T Single submitter glycogen storage disease IXa1
c.3112-13G>A Single submitter glycogen storage disease IXa1
c.3112-13G>C Single submitter glycogen storage disease IXa1
c.3112-17A>G Single submitter glycogen storage disease IXa1
c.3282+15G>A Single submitter glycogen storage disease IXa1
c.3282+23_3282+26dup Single submitter
c.3282+7C>T Single submitter glycogen storage disease IXa1
c.3282+8G>A Single submitter glycogen storage disease IXa1
c.3283-18G>A Single submitter glycogen storage disease IXa1
c.3283-19C>T Single submitter glycogen storage disease IXa1
c.3336+10G>T Single submitter glycogen storage disease IXa1
c.3336+16C>T Single submitter glycogen storage disease IXa1
c.3336+20G>T Single submitter glycogen storage disease IXa1
c.3337-4G>A Single submitter
c.3538-6C>T Single submitter glycogen storage disease IXa1
c.3538-7A>G Single submitter glycogen storage disease IXa1
c.454+10G>A Single submitter glycogen storage disease IXa1
c.454+35A>T Single submitter
c.454+9G>C Single submitter glycogen storage disease IXa1
c.537+11A>C Single submitter
c.619-143A>G Single submitter
c.718-19C>T Single submitter glycogen storage disease IXa1
c.78+23_78+24insTTC Single submitter
c.79-18G>T Single submitter
c.79-24del Single submitter
c.865-8C>T Single submitter glycogen storage disease IXa1
c.918+14A>G Single submitter
p.Ala1208= Single submitter glycogen storage disease IXa1
p.Ala175= Single submitter
p.Ala420Thr Single submitter Inborn genetic diseases
p.Ala72= Single submitter glycogen storage disease IXa1
p.Ala814= Single submitter
p.Ala888= Single submitter
p.Arg1130= Single submitter glycogen storage disease IXa1
p.Arg352Gln Single submitter Inborn genetic diseases
p.Arg367His Single submitter Inborn genetic diseases
p.Arg697Trp Single submitter glycogen storage disease IXa1
p.Arg727Cys Single submitter Inborn genetic diseases ⚠
p.Arg860Trp Single submitter glycogen storage disease IXa1 ⚠
p.Asn277= Single submitter glycogen storage disease IXa1
p.Asn6= Single submitter glycogen storage disease IXa1
p.Asn630Ser Single submitter glycogen storage disease IXa1
p.Asp127= Single submitter Inborn genetic diseases
p.Asp272= Single submitter
p.Asp658= Single submitter glycogen storage disease IXa1
p.Asp753Asn Single submitter glycogen storage disease IXa1
p.Cys551= Single submitter glycogen storage disease IXa1
p.Cys934Trp Single submitter glycogen storage disease IXa1
p.Gln1025Glu Single submitter Inborn genetic diseases
p.Gln1169= Single submitter glycogen storage disease IXa1
p.Glu1189Lys Single submitter glycogen storage disease IXa1
p.Glu254= Single submitter glycogen storage disease IXa1
p.Glu546Lys Single submitter Inborn genetic diseases
p.Glu871= Single submitter glycogen storage disease IXa1
p.Gly13Arg Single submitter glycogen storage disease IXa1 ⚠
p.Gly357= Single submitter glycogen storage disease IXa1
p.Gly396= Single submitter glycogen storage disease IXa1
p.Gly815= Single submitter glycogen storage disease IXa1
p.Gly965= Single submitter glycogen storage disease IXa1
p.His1116Gln Single submitter Inborn genetic diseases
p.His458= Single submitter glycogen storage disease IXa1
p.His956= Single submitter glycogen storage disease IXa1
p.His985= Single submitter glycogen storage disease IXa1
p.Ile1058= Single submitter glycogen storage disease IXa1
p.Ile1158= Single submitter glycogen storage disease IXa1
p.Leu1105= Single submitter glycogen storage disease IXa1
p.Leu1128= Single submitter glycogen storage disease IXa1
p.Leu1174= Single submitter
p.Leu159= Single submitter glycogen storage disease IXa1
p.Leu445= Single submitter
p.Leu510= Single submitter glycogen storage disease IXa1
p.Leu648= Single submitter glycogen storage disease IXa1
p.Leu660= Single submitter glycogen storage disease IXa1
p.Leu668= Single submitter glycogen storage disease IXa1
p.Leu77= Single submitter
p.Leu795= Single submitter glycogen storage disease IXa1
p.Lys1119= Single submitter glycogen storage disease IXa1
p.Lys286= Single submitter glycogen storage disease IXa1
p.Met951Val Single submitter Inborn genetic diseases ⚠
p.Phe748= Single submitter glycogen storage disease IXa1
p.Pro1115= Single submitter
p.Pro1132= Single submitter glycogen storage disease IXa1
p.Pro1205= Single submitter glycogen storage disease IXa1
p.Pro232= Single submitter glycogen storage disease IXa1
p.Pro28= Single submitter glycogen storage disease IXa1
p.Pro315Arg Single submitter Inborn genetic diseases ⚠
p.Pro436= Single submitter glycogen storage disease IXa1
p.Pro498= Single submitter glycogen storage disease IXa1
p.Pro638= Single submitter glycogen storage disease IXa1
p.Pro857= Single submitter glycogen storage disease IXa1
p.Ser1034Phe Single submitter Inborn genetic diseases
p.Ser1044= Single submitter
p.Ser1053= Single submitter glycogen storage disease IXa1
p.Ser1053Leu Single submitter glycogen storage disease IXa1
p.Ser1230= Single submitter glycogen storage disease IXa1
p.Ser691= Single submitter
p.Ser695= Single submitter
p.Thr1110= Single submitter glycogen storage disease IXa1
p.Thr1148= Single submitter
p.Thr1153= Single submitter
p.Thr1187= Single submitter glycogen storage disease IXa1
p.Thr1213Ser Single submitter glycogen storage disease IXa1 ⚠
p.Thr149= Single submitter glycogen storage disease IXa1
p.Thr519= Single submitter
p.Thr525= Single submitter
p.Thr671= Single submitter glycogen storage disease IXa1
p.Thr717Ile Single submitter glycogen storage disease IXa1
p.Thr852= Single submitter
p.Thr874= Single submitter glycogen storage disease IXa1
p.Tyr373= Single submitter glycogen storage disease IXa1
p.Tyr407= Single submitter glycogen storage disease IXa1
p.Tyr407His Single submitter Inborn genetic diseases
p.Tyr663= Single submitter glycogen storage disease IXa1
p.Val1080= Single submitter
p.Val1131= Single submitter glycogen storage disease IXa1
p.Val1164= Single submitter glycogen storage disease IXa1
p.Val369= Single submitter glycogen storage disease IXa1
p.Val582= Single submitter
p.Leu140= No assertion criteria PHKA2-related disorder
p.Tyr14= No assertion criteria PHKA2-related disorder

Uncertain significance 285

c.1794-8_1794-6del Multiple submitters disorder of glycogen metabolism
c.2137+5G>A Multiple submitters glycogen storage disease IXa1
c.3111+5C>T Multiple submitters glycogen storage disease IXa1
p.Ala15Val Multiple submitters Inborn genetic diseases ⚠
p.Ala179Thr Multiple submitters glycogen storage disease IXa1 ⚠
p.Ala257Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1111Gln Multiple submitters ⚠
p.Arg154Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg290His Multiple submitters glycogen storage disease IXa1 ⚠
p.Arg361Gly Multiple submitters glycogen storage disease IXa1 ⚠
p.Arg500Gln Multiple submitters glycogen storage disease IXa1 ⚠
p.Arg930Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg971Cys Multiple submitters Inborn genetic diseases ⚠
p.Asp128Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp950Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys1197Phe Multiple submitters Inborn genetic diseases ⚠
p.Cys326Tyr Multiple submitters glycogen storage disease IXa1 ⚠
p.Cys553Arg Multiple submitters PHKA2-related disorder ⚠
p.Cys934Arg Multiple submitters ⚠
p.Glu963Asp Multiple submitters glycogen storage disease IXa1 ⚠
p.Gly131Val Multiple submitters glycogen storage disease IXa1 ⚠
p.Gly258Arg Multiple submitters glycogen storage disease IXa1 ⚠
p.Gly596Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly815Ser Multiple submitters glycogen storage disease IXa1 ⚠
p.Gly991Ala Multiple submitters ⚠
p.His847Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile1182Val Multiple submitters Inborn genetic diseases ⚠
p.Ile262Ser Multiple submitters glycogen storage disease IXa1 ⚠
p.Leu1105Phe Multiple submitters glycogen storage disease IXa1 ⚠
p.Leu807del Multiple submitters Inborn genetic diseases
p.Leu829Val Multiple submitters Inborn genetic diseases ⚠
p.Lys875Glu Multiple submitters Inborn genetic diseases ⚠
p.Met183Val Multiple submitters glycogen storage disease IXa1 ⚠
p.Phe331Leu Multiple submitters ⚠
p.Pro376Leu Multiple submitters glycogen storage disease IXa1 ⚠
p.Pro498Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro867Leu Multiple submitters glycogen storage disease IXa1 ⚠
p.Ser1049Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser250Leu Multiple submitters glycogen storage disease IXa1 ⚠
p.Ser796Pro Multiple submitters glycogen storage disease IXa1 ⚠
p.Thr158Ile Multiple submitters glycogen storage disease IXa1 ⚠
p.Thr521Ala Multiple submitters glycogen storage disease IXa1 ⚠
p.Thr552Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr1201His Multiple submitters glycogen storage disease IXa1 ⚠
p.Tyr301His Multiple submitters Inborn genetic diseases ⚠
p.Val803Ile Multiple submitters glycogen storage disease IXa1 ⚠
p.Val889Ile Multiple submitters glycogen storage disease IXa1 ⚠
c.1042-12G>C Single submitter
c.1137_1137+3dup Single submitter
c.1324+5G>C Single submitter glycogen storage disease IXa1
c.1715-50G>A Single submitter
c.1963+4C>T Single submitter
c.1964-3C>T Single submitter glycogen storage disease IXa1
c.2226+4A>G Single submitter
c.2517+5G>A Single submitter glycogen storage disease IXa1
c.285+6C>T Single submitter
c.286-10del Single submitter glycogen storage disease IXa1
c.3336+24C>T Single submitter
c.865-11T>C Single submitter glycogen storage disease IXa1
c.918+5T>G Single submitter
p.Ala1027Val Single submitter ⚠
p.Ala1037= Single submitter glycogen storage disease IXa1
p.Ala114Thr Single submitter ⚠
p.Ala1204Thr Single submitter Inborn genetic diseases ⚠
p.Ala150Thr Single submitter glycogen storage disease IXa1 ⚠
p.Ala163Thr Single submitter Inborn genetic diseases ⚠
p.Ala163Val Single submitter glycogen storage disease IXa1 ⚠
p.Ala175Val Single submitter ⚠
p.Ala249Thr Single submitter Inborn genetic diseases ⚠
p.Ala374Val Single submitter glycogen storage disease IXa1 ⚠
p.Ala420Val Single submitter glycogen storage disease IXa1 ⚠
p.Ala466Val Single submitter glycogen storage disease IXa1 ⚠
p.Ala65Ser Single submitter ⚠
p.Ala706Gly Single submitter Inborn genetic diseases ⚠
p.Ala866= Single submitter glycogen storage disease IXa1
p.Ala925Gly Single submitter ⚠
p.Arg1063Gln Single submitter ⚠
p.Arg1063Trp Single submitter glycogen storage disease IXa1 ⚠
p.Arg1069Cys Single submitter glycogen storage disease IXa1 ⚠
p.Arg1069His Single submitter glycogen storage disease IXa1 ⚠
p.Arg1137Pro Single submitter glycogen storage disease IXa1 ⚠
p.Arg1137Trp Single submitter glycogen storage disease IXa1 ⚠
p.Arg224Leu Single submitter Inborn genetic diseases ⚠
p.Arg310Gln Single submitter ⚠
p.Arg367Cys Single submitter glycogen storage disease IXa1 ⚠
p.Arg429del Single submitter
p.Arg488Trp Single submitter glycogen storage disease IXa1 ⚠
p.Arg4Gly Single submitter ⚠
p.Arg514Lys Single submitter ⚠
p.Arg62His Single submitter Inborn genetic diseases ⚠
p.Arg67Cys Single submitter ⚠
p.Arg67Gly Single submitter ⚠
p.Arg67Ser Single submitter glycogen storage disease IXa1 ⚠
p.Arg687Leu Single submitter Inborn genetic diseases ⚠
p.Arg824Pro Single submitter glycogen storage disease IXa1 ⚠
p.Arg860Gln Single submitter Inborn genetic diseases ⚠
p.Arg86Gln Single submitter glycogen storage disease IXa1 ⚠
p.Arg971Leu Single submitter Inborn genetic diseases ⚠
p.Arg971Ser Single submitter glycogen storage disease IXa1 ⚠
p.Asn198Lys Single submitter ⚠
p.Asn536Ser Single submitter Inborn genetic diseases ⚠
p.Asn6Ser Single submitter Inborn genetic diseases ⚠
p.Asn794Ser Single submitter glycogen storage disease IXa1 ⚠
p.Asp1101Gly Single submitter Inborn genetic diseases ⚠
p.Asp1178Val Single submitter glycogen storage disease IXa1 ⚠
p.Asp1186Ala Single submitter glycogen storage disease IXa1 ⚠
p.Asp1186Gly Single submitter Inborn genetic diseases ⚠
p.Asp127Asn Single submitter Inborn genetic diseases ⚠
p.Asp160Gly Single submitter ⚠
p.Asp180Asn Single submitter glycogen storage disease IXa1 ⚠
p.Asp272His Single submitter Inborn genetic diseases ⚠
p.Asp344Glu Single submitter Inborn genetic diseases ⚠
p.Asp344Val Single submitter Inborn genetic diseases ⚠
p.Asp391Asn Single submitter ⚠
p.Asp535Gly Single submitter ⚠
p.Asp622Asn Single submitter ⚠
p.Asp68Asn Single submitter ⚠
p.Asp775Gly Single submitter glycogen storage disease IXa1 ⚠
p.Cys1095Tyr Single submitter glycogen storage disease IXa1 ⚠
p.Cys326Arg Single submitter glycogen storage disease IXa1 ⚠
p.Cys652Trp Single submitter ⚠
p.Cys841Tyr Single submitter ⚠
p.Cys91Tyr Single submitter glycogen storage disease IXa1 ⚠
p.Gln1009= Single submitter
p.Gln134Arg Single submitter disorder of glycogen metabolism ⚠
p.Gln347= Single submitter glycogen storage disease IXa1
p.Gln516His Single submitter ⚠
p.Gln922Pro Single submitter ⚠
p.Glu1112Asp Single submitter glycogen storage disease IXa1 ⚠
p.Glu1117Lys Single submitter glycogen storage disease IXa1 ⚠
p.Glu1142Lys Single submitter glycogen storage disease IXa1 ⚠
p.Glu1154Asp Single submitter Inborn genetic diseases ⚠
p.Glu185Asp Single submitter disorder of glycogen metabolism ⚠
p.Glu196Lys Single submitter glycogen storage disease IXa1 ⚠
p.Glu306Asp Single submitter ⚠
p.Glu356Gly Single submitter ⚠
p.Glu590Lys Single submitter Inborn genetic diseases ⚠
p.Glu633Lys Single submitter Inborn genetic diseases ⚠
p.Glu659Gly Single submitter Inborn genetic diseases ⚠
p.Glu659Lys Single submitter glycogen storage disease IXa1 ⚠
p.Glu835Gln Single submitter ⚠
p.Glu835Lys Single submitter glycogen storage disease IXa1 ⚠
p.Glu872Leu Single submitter glycogen storage disease IXa1
p.Gly1047Asp Single submitter ⚠
p.Gly1059Ser Single submitter Inborn genetic diseases ⚠
p.Gly1097Arg Single submitter ⚠
p.Gly1102Cys Single submitter ⚠
p.Gly1159Arg Single submitter Inborn genetic diseases ⚠
p.Gly1207Glu Single submitter Inborn genetic diseases ⚠
p.Gly131Ser Single submitter glycogen storage disease IXa1 ⚠
p.Gly203Arg Single submitter glycogen storage disease IXa1 ⚠
p.Gly292Glu Single submitter ⚠
p.Gly300Asp Single submitter ⚠
p.Gly300Val Single submitter glycogen storage disease IXa1 ⚠
p.Gly357Val Single submitter Inborn genetic diseases ⚠
p.Gly403Cys Single submitter Inborn genetic diseases ⚠
p.Gly487Glu Single submitter ⚠
p.Gly56Asp Single submitter glycogen storage disease IXa1 ⚠
p.Gly592Val Single submitter glycogen storage disease IXa1 ⚠
p.Gly797Arg Single submitter ⚠
p.Gly821Val Single submitter glycogen storage disease IXa1 ⚠
p.Gly965Asp Single submitter glycogen storage disease IXa1 ⚠
p.His1096Arg Single submitter glycogen storage disease IXa1 ⚠
p.His1096Tyr Single submitter ⚠
p.His1163Pro Single submitter Inborn genetic diseases ⚠
p.His132Arg Single submitter glycogen storage disease IXa1 ⚠
p.His37Arg Single submitter Inborn genetic diseases ⚠
p.His847Tyr Single submitter Inborn genetic diseases ⚠
p.His956Gln Single submitter ⚠
p.Ile1077Thr Single submitter glycogen storage disease IXa1 ⚠
p.Ile241Leu Single submitter glycogen storage disease IXa1 ⚠
p.Ile451Val Single submitter glycogen storage disease IXa1 ⚠
p.Ile502Thr Single submitter PHKA2-related disorder ⚠
p.Ile513Met Single submitter Inborn genetic diseases ⚠
p.Ile586Ser Single submitter glycogen storage disease IXa1 ⚠
p.Ile586Val Single submitter Inborn genetic diseases ⚠
p.Ile826Met Single submitter ⚠
p.Ile864Val Single submitter Inborn genetic diseases ⚠
p.Leu1139Arg Single submitter Inborn genetic diseases ⚠
p.Leu1140_Val1141del Single submitter glycogen storage disease IXa1
p.Leu1227del Single submitter
p.Leu320Pro Single submitter glycogen storage disease IXa1 ⚠
p.Leu494Phe Single submitter ⚠
p.Leu619Pro Single submitter ⚠
p.Leu773Pro Single submitter Inborn genetic diseases ⚠
p.Leu851Phe Single submitter Inborn genetic diseases ⚠
p.Leu915Phe Single submitter glycogen storage disease IXa1 ⚠
p.Leu946Phe Single submitter ⚠
p.Leu955Pro Single submitter glycogen storage disease IXa1 ⚠
p.Lys101del Single submitter
p.Lys103Arg Single submitter glycogen storage disease IXa1 ⚠
p.Lys1119Arg Single submitter glycogen storage disease IXa1 ⚠
p.Lys1119Thr Single submitter ⚠
p.Lys385Glu Single submitter glycogen storage disease IXa1 ⚠
p.Lys705Glu Single submitter Inborn genetic diseases ⚠
p.Lys721Glu Single submitter glycogen storage disease IXa1 ⚠
p.Lys73Arg Single submitter glycogen storage disease IXa1 ⚠
p.Met1010Val Single submitter glycogen storage disease IXa1 ⚠
p.Met1170_Ala1171insMet Single submitter
p.Met204Val Single submitter Inborn genetic diseases ⚠
p.Met395Val Single submitter ⚠
p.Met570Thr Single submitter Inborn genetic diseases ⚠
p.Met85Ile Single submitter Inborn genetic diseases ⚠
p.Met93Ile Single submitter Inborn genetic diseases ⚠
p.Met93Val Single submitter ⚠
p.Met944Ile Single submitter Inborn genetic diseases ⚠
p.Phe170Ser Single submitter glycogen storage disease IXa1 ⚠
p.Phe218Leu Single submitter glycogen storage disease IXa1 ⚠
p.Phe713Leu Single submitter ⚠
p.Pro1042Leu Single submitter Inborn genetic diseases ⚠
p.Pro1042Ser Single submitter ⚠
p.Pro1081Leu Single submitter ⚠
p.Pro1115Leu Single submitter glycogen storage disease IXa1 ⚠
p.Pro1115Ser Single submitter disorder of glycogen metabolism ⚠
p.Pro247Arg Single submitter glycogen storage disease IXa1 ⚠
p.Pro266Leu Single submitter ⚠
p.Pro329Ser Single submitter Inborn genetic diseases ⚠
p.Pro329Thr Single submitter Inborn genetic diseases ⚠
p.Pro475Leu Single submitter glycogen storage disease IXa1 ⚠
p.Pro498Ser Single submitter ⚠
p.Pro498Thr Single submitter glycogen storage disease IXa1 ⚠
p.Pro719Leu Single submitter ⚠
p.Ser1036Pro Single submitter Inborn genetic diseases ⚠
p.Ser1039Thr Single submitter Inborn genetic diseases ⚠
p.Ser1043Pro Single submitter glycogen storage disease IXa1 ⚠
p.Ser1126Leu Single submitter glycogen storage disease IXa1 ⚠
p.Ser1157Arg Single submitter
p.Ser1172Arg Single submitter glycogen storage disease IXa1 ⚠
p.Ser1221del Single submitter glycogen storage disease IXa1
p.Ser3Arg Single submitter glycogen storage disease IXa1 ⚠
p.Ser508Phe Single submitter ⚠
p.Ser695Phe Single submitter
p.Ser746Asn Single submitter Inborn genetic diseases ⚠
p.Ser846Trp Single submitter ⚠
p.Ser940Phe Single submitter ⚠
p.Ser960Arg Single submitter Inborn genetic diseases ⚠
p.Ser998Gly Single submitter ⚠
p.Ter1236Tyr Single submitter glycogen storage disease IXa1
p.Thr1041Ala Single submitter glycogen storage disease IXa1 ⚠
p.Thr105Ile Single submitter Inborn genetic diseases ⚠
p.Thr1109Lys Single submitter glycogen storage disease IXa1 ⚠
p.Thr1114Asn Single submitter Inborn genetic diseases ⚠
p.Thr1148Ala Single submitter Inborn genetic diseases ⚠
p.Thr1156Ala Single submitter Inborn genetic diseases ⚠
p.Thr123Met Single submitter ⚠
p.Thr138Ala Single submitter Inborn genetic diseases ⚠
p.Thr507Ala Single submitter glycogen storage disease IXa1 ⚠
p.Thr507Ile Single submitter glycogen storage disease IXa1 ⚠
p.Thr572Arg Single submitter glycogen storage disease IXa1 ⚠
p.Thr926Lys Single submitter Inborn genetic diseases ⚠
p.Thr990Ile Single submitter glycogen storage disease IXa1 ⚠
p.Thr993Ala Single submitter glycogen storage disease IXa1 ⚠
p.Trp328Arg Single submitter ⚠
p.Trp791Cys Single submitter glycogen storage disease IXa1 ⚠
p.Tyr1136His Single submitter Inborn genetic diseases ⚠
p.Tyr116Asn Single submitter glycogen storage disease IXa1 ⚠
p.Tyr1209Phe Single submitter ⚠
p.Tyr384Cys Single submitter Inborn genetic diseases ⚠
p.Tyr407Phe Single submitter Inborn genetic diseases ⚠
p.Tyr613Cys Single submitter ⚠
p.Tyr75Ser Single submitter Inborn genetic diseases ⚠
p.Tyr825His Single submitter glycogen storage disease IXa1
p.Val1080Ile Single submitter Inborn genetic diseases ⚠
p.Val1088Leu Single submitter Inborn genetic diseases ⚠
p.Val1088Met Single submitter glycogen storage disease IXa1 ⚠
p.Val1104Ala Single submitter ⚠
p.Val1141Glu Single submitter glycogen storage disease IXa1 ⚠
p.Val1164Glu Single submitter glycogen storage disease IXa1 ⚠
p.Val135Leu Single submitter ⚠
p.Val270Met Single submitter PHKA2-related disorder ⚠
p.Val276Leu Single submitter ⚠
p.Val29Ile Single submitter ⚠
p.Val380Glu Single submitter Inborn genetic diseases ⚠
p.Val380Ile Single submitter ⚠
p.Val390Ile Single submitter glycogen storage disease IXa1 ⚠
p.Val462Ile Single submitter glycogen storage disease IXa1 ⚠
p.Val54Met Single submitter Inborn genetic diseases ⚠
p.Val582Met Single submitter Inborn genetic diseases ⚠
p.Val758Met Single submitter ⚠
p.Val801fs Single submitter glycogen storage disease IXa1
p.Val801Phe Single submitter glycogen storage disease IXa1 ⚠
p.Val896Phe Single submitter glycogen storage disease IXa1 ⚠
p.Gly1210Arg No assertion criteria glycogen storage disease IXa1 ⚠
p.Leu604Pro No assertion criteria PHKA2-related disorder ⚠
p.Thr1148Met No assertion criteria ⚠