PNPO — 387 ClinVar variants
All ClinVar germline PNPO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
20 Pathogenic · 11 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 11 Conflicting · 24 Benign · 5 Benign/Likely benign · 147 Likely benign · 157 Uncertain significance
Full PNPO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PNPO p.Asp33Val
Pathogenic
Multiple submitters
pyridoxal phosphate-responsive seizures
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PNPO p.Arg161Gly
Conflicting
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg161His
Conflicting
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Ile167Thr
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 95
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PNPO p.Ala30Val
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Ala31Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Arg108Cys
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg108Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Arg141His
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg181Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Arg233Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Arg234Gln
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Asp240Glu
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Glu114Lys
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Glu189Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Glu50Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Gly13Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Gly144Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Gly250Arg
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Gly76Arg
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Gly7Asp
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Leu56Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Lys163Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Pro145Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Pro261Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Ser40Asn
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Thr238Ala
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Trp4Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Ala10Pro
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Ala169Val
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Ala47Thr
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Ala47Val
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Ala69Thr
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
- PNPO p.Ala84Gly Uncertain significance Single submitter
-
PNPO p.Arg108His
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
- PNPO p.Arg138Ser Uncertain significance Single submitter
-
PNPO p.Arg181Trp
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg249Cys
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg249His
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg38Ser
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg42Cys
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg45Gln
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg6Trp
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg88Ile
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg95Ser
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
- PNPO p.Asp122Asn Uncertain significance Single submitter
-
PNPO p.Asp253Glu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Cys82Arg
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
- PNPO p.Gln196Glu Uncertain significance Single submitter
-
PNPO p.Gln220Arg
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Glu120Ala
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Glu153Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PNPO p.Glu252Lys Uncertain significance Single submitter
-
PNPO p.Gly101Ser
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Gly144Asp
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Gly20Ala
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Gly20Val
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Gly43Arg
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Gly90Glu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.His159Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPO p.His227Tyr
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.His52Tyr
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Leu129Phe
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Leu22Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPO p.Lys104Glu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Lys119Arg
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Lys147Glu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Lys148Gln
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Lys202Arg
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Met246Val
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Met81Lys
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Phe102Val
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Phe107Val
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Phe218Leu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Phe62Leu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Pro145Leu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Pro162Leu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Pro162Ser
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Pro261Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPO p.Pro36Ser
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Pro73Ser
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Pro92Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPO p.Ser160Tyr
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
- PNPO p.Ser165Gly Uncertain significance Single submitter
-
PNPO p.Ser176Cys
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Ser241Tyr
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Thr2Ala
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Thr54Ser
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Trp206Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPO p.Trp4Ser
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Tyr132Cys
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Tyr209Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPO p.Tyr21Phe
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Val170Ala
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
- PNPO p.Val200Met Uncertain significance Single submitter
-
PNPO p.Val210Leu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Val215Leu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Val231Asp
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Val8Ile
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
Predictors split 18
The independent predictors disagree with each other — read with care.
-
PNPO p.Arg116Gln
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
PNPO p.Arg233Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Arg28His
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Met37Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PNPO p.Pro245Leu
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Val210Phe
Uncertain significance
Multiple submitters
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg234Trp
Conflicting
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Arg28Leu
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Asn79Ser
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Asp240Tyr
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Cys86Tyr
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Glu182Lys
Conflicting
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Leu53Val
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Ser176Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PNPO p.Thr223Ile
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Tyr132His
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Tyr195His
Uncertain significance
Single submitter
pyridoxal phosphate-responsive seizures
-
PNPO p.Tyr256Cys
Conflicting
Single submitter
Inborn genetic diseases
All PNPO variants
Pathogenic 20
- c.364-1G>A Multiple submitters pyridoxal phosphate-responsive seizures
- p.Arg225His Multiple submitters pyridoxal phosphate-responsive seizures
- p.Arg225Leu Multiple submitters pyridoxal phosphate-responsive seizures
- p.Arg95His Multiple submitters pyridoxal phosphate-responsive seizures
- p.Asp33Val Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Leu83fs Multiple submitters pyridoxal phosphate-responsive seizures
- p.Lys60Ter Multiple submitters pyridoxal phosphate-responsive seizures
- p.Pro150fs Multiple submitters pyridoxal phosphate-responsive seizures
- c.263+1G>C Single submitter pyridoxal phosphate-responsive seizures
- c.364-1G>C Single submitter pyridoxal phosphate-responsive seizures
- p.Ala69fs Single submitter pyridoxal phosphate-responsive seizures
- p.Arg116Ter Single submitter pyridoxal phosphate-responsive seizures
- p.Arg141_Gly144del Single submitter pyridoxal phosphate-responsive seizures
- p.His24fs Single submitter pyridoxal phosphate-responsive seizures
- p.Ser40fs Single submitter pyridoxal phosphate-responsive seizures
- p.Ter262Gln Single submitter pyridoxal phosphate-responsive seizures
- p.Tyr41Ter Single submitter pyridoxal phosphate-responsive seizures
- c.546+1G>A No assertion criteria pyridoxal phosphate-responsive seizures
- c.620delG No assertion criteria pyridoxal phosphate-responsive seizures
- p.Gln174Ter No assertion criteria pyridoxal phosphate-responsive seizures
Pathogenic/Likely pathogenic 11
- p.Arg138Cys Multiple submitters pyridoxal phosphate-responsive seizures
- p.Arg138His Multiple submitters pyridoxal phosphate-responsive seizures
- p.Arg141Cys Multiple submitters pyridoxal phosphate-responsive seizures
- p.Arg161Cys Multiple submitters pyridoxal phosphate-responsive seizures
- p.Arg225Cys Multiple submitters PNPO-related disorder
- p.Arg229Gln Multiple submitters PNPO-related disorder
- p.Arg229Trp Multiple submitters pyridoxal phosphate-responsive seizures
- p.Arg95Cys Multiple submitters pyridoxal phosphate-responsive seizures
- p.Trp133Ter Multiple submitters pyridoxal phosphate-responsive seizures
- p.Trp219Ter Multiple submitters Inborn genetic diseases
- p.Tyr157Ter Multiple submitters PNPO-related disorder
Likely pathogenic 12
- c.264-2A>G Multiple submitters pyridoxal phosphate-responsive seizures
- c.363+5G>A Multiple submitters pyridoxal phosphate-responsive seizures
- c.547-1G>A Multiple submitters pyridoxal phosphate-responsive seizures
- c.138+1G>A Single submitter pyridoxal phosphate-responsive seizures
- c.418-1G>C Single submitter pyridoxal phosphate-responsive seizures
- c.547-2A>T Single submitter pyridoxal phosphate-responsive seizures
- p.Asn188fs Single submitter pyridoxal phosphate-responsive seizures
- p.Gly118Arg Single submitter pyridoxal phosphate-responsive seizures
- p.Met1Ile Single submitter
- p.Pro145fs Single submitter pyridoxal phosphate-responsive seizures
- p.Pro213Ser Single submitter pyridoxal phosphate-responsive seizures
- p.Tyr21fs Single submitter pyridoxal phosphate-responsive seizures
Conflicting classifications of pathogenicity 11
- c.139-4C>G Single submitter Inborn genetic diseases
- c.547-17C>G Single submitter pyridoxal phosphate-responsive seizures
- p.Arg161Gly Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg161His Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg234Trp Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Glu182Lys Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Ile167Thr Single submitter Inborn genetic diseases ⚠
- p.Met1Thr Single submitter pyridoxal phosphate-responsive seizures
- p.Ser241= Single submitter pyridoxal phosphate-responsive seizures
- p.Tyr183= Single submitter pyridoxal phosphate-responsive seizures
- p.Tyr256Cys Single submitter Inborn genetic diseases ⚠
Benign 24
- c.364-36C>T Multiple submitters pyridoxal phosphate-responsive seizures
- c.418-64G>A Multiple submitters
- c.418-67G>A Multiple submitters
- c.546+15G>A Multiple submitters pyridoxal phosphate-responsive seizures
- c.618-26A>G Multiple submitters
- c.*106A>T Multiple submitters pyridoxal phosphate-responsive seizures
- c.*341T>C Multiple submitters pyridoxal phosphate-responsive seizures
- c.*352G>C Multiple submitters pyridoxal phosphate-responsive seizures
- c.*512A>C Multiple submitters pyridoxal phosphate-responsive seizures
- c.*825C>A Multiple submitters pyridoxal phosphate-responsive seizures
- c.*904A>G Multiple submitters pyridoxal phosphate-responsive seizures
- p.Leu184= Multiple submitters Inborn genetic diseases
- p.Pro162= Multiple submitters Inborn genetic diseases
- p.Ser55= Multiple submitters Inborn genetic diseases
- c.139-310G>A Single submitter
- c.363+249G>A Single submitter
- c.546+155G>T Single submitter
- c.*1048C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*1580G>A Single submitter pyridoxal phosphate-responsive seizures
- c.*1668G>A Single submitter pyridoxal phosphate-responsive seizures
- c.*1883G>C Single submitter pyridoxal phosphate-responsive seizures
- c.*2008A>G Single submitter pyridoxal phosphate-responsive seizures
- c.*2291G>A Single submitter pyridoxal phosphate-responsive seizures
- c.*611C>T Single submitter pyridoxal phosphate-responsive seizures
Benign/Likely benign 5
- p.Arg116Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg249= Multiple submitters pyridoxal phosphate-responsive seizures
- p.Leu259= Multiple submitters Inborn genetic diseases
- p.Phe102= Multiple submitters Inborn genetic diseases
- p.Thr111= Multiple submitters pyridoxal phosphate-responsive seizures
Likely benign 147
- c.138+13G>A Multiple submitters pyridoxal phosphate-responsive seizures
- c.138+143C>T Multiple submitters
- c.263+12T>C Multiple submitters pyridoxal phosphate-responsive seizures
- c.546+14C>T Multiple submitters pyridoxal phosphate-responsive seizures
- p.Arg6= Multiple submitters pyridoxal phosphate-responsive seizures
- p.Asp180= Multiple submitters pyridoxal phosphate-responsive seizures
- p.Asp44= Multiple submitters pyridoxal phosphate-responsive seizures
- p.Glu49= Multiple submitters pyridoxal phosphate-responsive seizures
- p.Gly168= Multiple submitters pyridoxal phosphate-responsive seizures
- p.Gly27= Multiple submitters pyridoxal phosphate-responsive seizures
- p.Leu243= Multiple submitters Inborn genetic diseases
- p.Met1fs Multiple submitters
- p.Phe131= Multiple submitters pyridoxal phosphate-responsive seizures
- p.Val146= Multiple submitters pyridoxal phosphate-responsive seizures
- c.138+14G>A Single submitter pyridoxal phosphate-responsive seizures
- c.138+8C>A Single submitter pyridoxal phosphate-responsive seizures
- c.138+8C>T Single submitter pyridoxal phosphate-responsive seizures
- c.138+9G>A Single submitter pyridoxal phosphate-responsive seizures
- c.138+9G>T Single submitter pyridoxal phosphate-responsive seizures
- c.139-10C>T Single submitter pyridoxal phosphate-responsive seizures
- c.139-16A>C Single submitter pyridoxal phosphate-responsive seizures
- c.139-17T>C Single submitter pyridoxal phosphate-responsive seizures
- c.139-7T>C Single submitter pyridoxal phosphate-responsive seizures
- c.139-8T>C Single submitter pyridoxal phosphate-responsive seizures
- c.263+10G>A Single submitter pyridoxal phosphate-responsive seizures
- c.263+17_263+19del Single submitter pyridoxal phosphate-responsive seizures
- c.263+17G>A Single submitter pyridoxal phosphate-responsive seizures
- c.263+18C>T Single submitter pyridoxal phosphate-responsive seizures
- c.264-129C>T Single submitter
- c.264-19C>G Single submitter pyridoxal phosphate-responsive seizures
- c.264-19C>T Single submitter pyridoxal phosphate-responsive seizures
- c.264-7C>T Single submitter pyridoxal phosphate-responsive seizures
- c.363+11A>G Single submitter pyridoxal phosphate-responsive seizures
- c.363+13A>T Single submitter pyridoxal phosphate-responsive seizures
- c.363+16T>C Single submitter pyridoxal phosphate-responsive seizures
- c.363+19_363+32del Single submitter pyridoxal phosphate-responsive seizures
- c.363+20A>G Single submitter pyridoxal phosphate-responsive seizures
- c.363+7G>A Single submitter pyridoxal phosphate-responsive seizures
- c.364-139T>C Single submitter
- c.364-14T>G Single submitter pyridoxal phosphate-responsive seizures
- c.364-4C>A Single submitter pyridoxal phosphate-responsive seizures
- c.364-9T>G Single submitter pyridoxal phosphate-responsive seizures
- c.417+16C>T Single submitter pyridoxal phosphate-responsive seizures
- c.417+17A>T Single submitter pyridoxal phosphate-responsive seizures
- c.417+18G>T Single submitter pyridoxal phosphate-responsive seizures
- c.417+7del Single submitter pyridoxal phosphate-responsive seizures
- c.418-10C>T Single submitter pyridoxal phosphate-responsive seizures
- c.418-15G>A Single submitter pyridoxal phosphate-responsive seizures
- c.418-20C>T Single submitter pyridoxal phosphate-responsive seizures
- c.418-9C>T Single submitter pyridoxal phosphate-responsive seizures
- c.546+10G>A Single submitter pyridoxal phosphate-responsive seizures
- c.546+11C>G Single submitter pyridoxal phosphate-responsive seizures
- c.546+12T>C Single submitter pyridoxal phosphate-responsive seizures
- c.546+16C>A Single submitter pyridoxal phosphate-responsive seizures
- c.546+7G>A Single submitter pyridoxal phosphate-responsive seizures
- c.546+8G>A Single submitter pyridoxal phosphate-responsive seizures
- c.547-10C>T Single submitter pyridoxal phosphate-responsive seizures
- c.547-12C>T Single submitter pyridoxal phosphate-responsive seizures
- c.547-13T>G Single submitter pyridoxal phosphate-responsive seizures
- c.547-4A>G Single submitter pyridoxal phosphate-responsive seizures
- c.547-9C>T Single submitter pyridoxal phosphate-responsive seizures
- c.617+18G>A Single submitter pyridoxal phosphate-responsive seizures
- c.617+19T>C Single submitter pyridoxal phosphate-responsive seizures
- c.617+20C>A Single submitter pyridoxal phosphate-responsive seizures
- c.618-10C>G Single submitter pyridoxal phosphate-responsive seizures
- c.618-13C>T Single submitter pyridoxal phosphate-responsive seizures
- c.618-19C>T Single submitter pyridoxal phosphate-responsive seizures
- c.618-4A>G Single submitter
- c.-17G>A Single submitter
- c.-24G>A Single submitter
- c.-28A>G Single submitter
- c.-38G>C Single submitter
- c.-6C>A Single submitter
- c.*1151C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*272T>G Single submitter pyridoxal phosphate-responsive seizures
- c.*293G>C Single submitter
- c.*301C>A Single submitter pyridoxal phosphate-responsive seizures
- c.*756T>C Single submitter pyridoxal phosphate-responsive seizures
- c.*958G>T Single submitter pyridoxal phosphate-responsive seizures
- p.Ala10= Single submitter pyridoxal phosphate-responsive seizures
- p.Ala169= Single submitter pyridoxal phosphate-responsive seizures
- p.Ala31= Single submitter pyridoxal phosphate-responsive seizures
- p.Ala63= Single submitter
- p.Ala78= Single submitter
- p.Ala94= Single submitter pyridoxal phosphate-responsive seizures
- p.Arg116= Single submitter pyridoxal phosphate-responsive seizures
- p.Arg14= Single submitter pyridoxal phosphate-responsive seizures
- p.Arg141= Single submitter pyridoxal phosphate-responsive seizures
- p.Arg225= Single submitter pyridoxal phosphate-responsive seizures
- p.Asn112= Single submitter pyridoxal phosphate-responsive seizures
- p.Asn137= Single submitter pyridoxal phosphate-responsive seizures
- p.Asn188= Single submitter pyridoxal phosphate-responsive seizures
- p.Asp105= Single submitter pyridoxal phosphate-responsive seizures
- p.Asp228= Single submitter
- p.Asp33= Single submitter pyridoxal phosphate-responsive seizures
- p.Asp74= Single submitter pyridoxal phosphate-responsive seizures
- p.Asp89= Single submitter pyridoxal phosphate-responsive seizures
- p.Cys3= Single submitter pyridoxal phosphate-responsive seizures
- p.Gln166= Single submitter pyridoxal phosphate-responsive seizures
- p.Glu114= Single submitter pyridoxal phosphate-responsive seizures
- p.Glu134= Single submitter pyridoxal phosphate-responsive seizures
- p.Glu151= Single submitter pyridoxal phosphate-responsive seizures
- p.Glu152= Single submitter pyridoxal phosphate-responsive seizures
- p.Glu153= Single submitter pyridoxal phosphate-responsive seizures
- p.Glu17= Single submitter pyridoxal phosphate-responsive seizures
- p.Glu190= Single submitter pyridoxal phosphate-responsive seizures
- p.Glu192= Single submitter pyridoxal phosphate-responsive seizures
- p.Glu217= Single submitter pyridoxal phosphate-responsive seizures
- p.Gly106= Single submitter pyridoxal phosphate-responsive seizures
- p.Gly118= Single submitter pyridoxal phosphate-responsive seizures
- p.Gly13= Single submitter pyridoxal phosphate-responsive seizures
- p.Gly76= Single submitter pyridoxal phosphate-responsive seizures
- p.His24= Single submitter
- p.His52= Single submitter pyridoxal phosphate-responsive seizures
- p.Ile178= Single submitter pyridoxal phosphate-responsive seizures
- p.Leu191= Single submitter pyridoxal phosphate-responsive seizures
- p.Leu194= Single submitter pyridoxal phosphate-responsive seizures
- p.Leu22= Single submitter pyridoxal phosphate-responsive seizures
- p.Leu226= Single submitter pyridoxal phosphate-responsive seizures
- p.Leu25= Single submitter
- p.Leu255= Single submitter pyridoxal phosphate-responsive seizures
- p.Leu34= Single submitter pyridoxal phosphate-responsive seizures
- p.Leu56= Single submitter pyridoxal phosphate-responsive seizures
- p.Leu99= Single submitter pyridoxal phosphate-responsive seizures
- p.Lys202= Single submitter pyridoxal phosphate-responsive seizures
- p.Phe110= Single submitter pyridoxal phosphate-responsive seizures
- p.Phe113= Single submitter pyridoxal phosphate-responsive seizures
- p.Phe12= Single submitter pyridoxal phosphate-responsive seizures
- p.Phe48= Single submitter pyridoxal phosphate-responsive seizures
- p.Pro150= Single submitter pyridoxal phosphate-responsive seizures
- p.Pro179= Single submitter pyridoxal phosphate-responsive seizures
- p.Pro203= Single submitter pyridoxal phosphate-responsive seizures
- p.Pro73= Single submitter pyridoxal phosphate-responsive seizures
- p.Pro92= Single submitter pyridoxal phosphate-responsive seizures
- p.Ser128= Single submitter pyridoxal phosphate-responsive seizures
- p.Thr2= Single submitter pyridoxal phosphate-responsive seizures
- p.Thr54= Single submitter pyridoxal phosphate-responsive seizures
- p.Thr85= Single submitter pyridoxal phosphate-responsive seizures
- p.Thr9= Single submitter pyridoxal phosphate-responsive seizures
- p.Tyr157= Single submitter pyridoxal phosphate-responsive seizures
- p.Tyr212= Single submitter pyridoxal phosphate-responsive seizures
- p.Val140= Single submitter pyridoxal phosphate-responsive seizures
- p.Val170= Single submitter pyridoxal phosphate-responsive seizures
- p.Val200= Single submitter pyridoxal phosphate-responsive seizures
- p.Val210= Single submitter pyridoxal phosphate-responsive seizures
- p.Val231= Single submitter pyridoxal phosphate-responsive seizures
- c.263+7A>G No assertion criteria PNPO-related disorder
Uncertain significance 157
- c.363+6T>C Multiple submitters pyridoxal phosphate-responsive seizures
- p.Ala30Val Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Ala31Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg108Cys Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Arg108Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg141His Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Arg181Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg233Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg233Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg234Gln Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Arg28His Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Asp180_Arg181insHis Multiple submitters pyridoxal phosphate-responsive seizures
- p.Asp240Glu Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Glu114Lys Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Glu189Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu50Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly103Arg Multiple submitters pyridoxal phosphate-responsive seizures
- p.Gly13Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly144Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly250Arg Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Gly76Arg Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Gly7Asp Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.His52Pro Multiple submitters pyridoxal phosphate-responsive seizures
- p.Leu56Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys163Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met37Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro145Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro245Leu Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Pro261Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser40Asn Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Thr238Ala Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- p.Trp4Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr183Asp Multiple submitters pyridoxal phosphate-responsive seizures
- p.Val210Phe Multiple submitters pyridoxal phosphate-responsive seizures ⚠
- c.263+3G>A Single submitter pyridoxal phosphate-responsive seizures
- c.263+6C>T Single submitter pyridoxal phosphate-responsive seizures
- c.264-3T>C Single submitter pyridoxal phosphate-responsive seizures
- c.417+6T>C Single submitter pyridoxal phosphate-responsive seizures
- c.617+3G>A Single submitter pyridoxal phosphate-responsive seizures
- c.-18C>T Single submitter pyridoxal phosphate-responsive seizures
- c.-19A>G Single submitter pyridoxal phosphate-responsive seizures
- c.-23G>A Single submitter pyridoxal phosphate-responsive seizures
- c.*1123G>A Single submitter pyridoxal phosphate-responsive seizures
- c.*1190A>G Single submitter pyridoxal phosphate-responsive seizures
- c.*1393G>A Single submitter pyridoxal phosphate-responsive seizures
- c.*141C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*1513G>T Single submitter pyridoxal phosphate-responsive seizures
- c.*1757G>T Single submitter pyridoxal phosphate-responsive seizures
- c.*1777C>G Single submitter pyridoxal phosphate-responsive seizures
- c.*1803C>A Single submitter pyridoxal phosphate-responsive seizures
- c.*1842A>G Single submitter pyridoxal phosphate-responsive seizures
- c.*1965C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*200C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*2191A>G Single submitter pyridoxal phosphate-responsive seizures
- c.*2490C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*643C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*656_*657dup Single submitter
- c.*729T>G Single submitter pyridoxal phosphate-responsive seizures
- c.*72C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*791G>A Single submitter pyridoxal phosphate-responsive seizures
- c.*818C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*84A>T Single submitter pyridoxal phosphate-responsive seizures
- c.*877G>T Single submitter pyridoxal phosphate-responsive seizures
- c.*895C>T Single submitter pyridoxal phosphate-responsive seizures
- c.*945C>T Single submitter pyridoxal phosphate-responsive seizures
- p.Ala10Pro Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Ala169Val Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Ala47Thr Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Ala47Val Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Ala69Thr Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Ala69Val Single submitter Inborn genetic diseases
- p.Ala84Gly Single submitter ⚠
- p.Arg108His Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg138Ser Single submitter ⚠
- p.Arg181Trp Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg249Cys Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg249His Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg28Leu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg38= Single submitter pyridoxal phosphate-responsive seizures
- p.Arg38Ser Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg42Cys Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg45Gln Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg6Trp Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg88Ile Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Arg95Ser Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Asn79_Ala80del Single submitter
- p.Asn79Ser Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Asp122Asn Single submitter ⚠
- p.Asp240Tyr Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Asp253Glu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Asp44His Single submitter pyridoxal phosphate-responsive seizures
- p.Cys82Arg Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Cys86Tyr Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Gln196Glu Single submitter ⚠
- p.Gln220Arg Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Glu120Ala Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Glu134Gln Single submitter pyridoxal phosphate-responsive seizures
- p.Glu134Gly Single submitter Inborn genetic diseases
- p.Glu153Asp Single submitter Inborn genetic diseases ⚠
- p.Glu251fs Single submitter pyridoxal phosphate-responsive seizures
- p.Glu252Lys Single submitter ⚠
- p.Gly101Ser Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Gly144Asp Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Gly20Ala Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Gly20Val Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Gly35Glu Single submitter
- p.Gly43Arg Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Gly90Glu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.His159Pro Single submitter Inborn genetic diseases ⚠
- p.His227Tyr Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.His52Tyr Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Leu129Phe Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Leu22Phe Single submitter Inborn genetic diseases ⚠
- p.Leu53Val Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Lys104Glu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Lys119Arg Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Lys147Glu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Lys148Gln Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Lys187Ile Single submitter Inborn genetic diseases
- p.Lys202Arg Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Met246Val Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Met81Lys Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Phe102Val Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Phe107Val Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Phe218Leu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Phe62Leu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Pro145Leu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Pro162Leu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Pro162Ser Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Pro261Ser Single submitter Inborn genetic diseases ⚠
- p.Pro36Ser Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Pro73Ser Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Pro92Leu Single submitter Inborn genetic diseases ⚠
- p.Ser160Tyr Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Ser165Gly Single submitter ⚠
- p.Ser176Cys Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Ser176Phe Single submitter Inborn genetic diseases ⚠
- p.Ser241Tyr Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Thr223Ala Single submitter pyridoxal phosphate-responsive seizures
- p.Thr223Ile Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Thr2Ala Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Thr54Ser Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Trp206Leu Single submitter Inborn genetic diseases ⚠
- p.Trp4Ser Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Tyr132Cys Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Tyr132His Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Tyr195His Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Tyr209Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr21Phe Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Tyr41= Single submitter
- p.Val170Ala Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Val200Met Single submitter ⚠
- p.Val210Leu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Val215Leu Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Val231Asp Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Val8Ile Single submitter pyridoxal phosphate-responsive seizures ⚠
- p.Ala94Val No assertion criteria pyridoxal phosphate-responsive seizures