PTS — 286 ClinVar variants
All ClinVar germline PTS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
30 Pathogenic · 21 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 17 Conflicting · 12 Benign · 2 Benign/Likely benign · 119 Likely benign · 52 Uncertain significance
Full PTS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 20
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PTS p.Ala111Thr
Pathogenic/Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Asn117Lys
Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Asp136Gly
Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Glu82Gly
Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Ile114Met
Pathogenic/Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Ile63Val
Pathogenic/Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Lys129Glu
Pathogenic/Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Lys91Arg
Pathogenic/Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Met80Val
Pathogenic/Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Pro123Ser
Pathogenic/Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Pro87Leu
Pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Pro87Ser
Pathogenic
Multiple submitters
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
-
PTS p.Ser32Gly
Pathogenic/Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Thr67Met
Pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Val56Met
Pathogenic/Likely pathogenic
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Ala111Ser
Likely pathogenic
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Glu81Ala
Likely pathogenic
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Tyr99Cys
Pathogenic
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Val124Ala
Likely pathogenic
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Val124Leu
Pathogenic
Single submitter
BH4-deficient hyperphenylalaninemia A
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PTS p.Ala83Glu
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Gly41Arg
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Ile114Val
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Leu127Val
Conflicting
Single submitter
Inborn genetic diseases
-
PTS p.Lys91Glu
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Val103Ala
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Val70Asp
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
Predictors lean, ClinVar uncertain 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PTS p.Asn44Asp
Uncertain significance
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Gly50Arg
Uncertain significance
Multiple submitters
BH4-deficient hyperphenylalaninemia A
-
PTS p.Ala66Thr
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
- PTS p.Asn138His Uncertain significance Single submitter
-
PTS p.Asn36Asp
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
- PTS p.Asp94Glu Uncertain significance Single submitter
- PTS p.Asp94Tyr Uncertain significance Single submitter
-
PTS p.Gln119Arg
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Glu35Asp
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Gly50Glu
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.His60Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- PTS p.Met69Val Uncertain significance Single submitter
- PTS p.Met71Thr Uncertain significance Single submitter
- PTS p.Phe100Val Uncertain significance Single submitter
-
PTS p.Phe40Leu
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Pro65Ser
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Tyr53Ser
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Asn109Ser
Uncertain significance
No assertion criteria
BH4-deficient hyperphenylalaninemia A
-
PTS p.Glu134Asp
Uncertain significance
No assertion criteria
BH4-deficient hyperphenylalaninemia A
-
PTS p.Val132Ala
Uncertain significance
No assertion criteria
BH4-deficient hyperphenylalaninemia A
-
PTS p.Val97Met
Uncertain significance
No assertion criteria
BH4-deficient hyperphenylalaninemia A
Predictors split 24
The independent predictors disagree with each other — read with care.
- PTS p.Ala101Val Uncertain significance Single submitter
- PTS p.Asn117Asp Uncertain significance Single submitter
-
PTS p.Asn44Ser
Likely benign
Single submitter
Inborn genetic diseases
-
PTS p.Asn92His
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Asp116Gly
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
- PTS p.Asp33Val Uncertain significance Single submitter
-
PTS p.Glu35Gly
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.His51Tyr
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Leu122Ile
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Lys120Asn
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Met71Val
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Met80Thr
Likely pathogenic
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Pro46Thr
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Pro65Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PTS p.Pro65Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PTS p.Pro98Gln
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Pro98Ser
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Ser32Asn
Conflicting
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Tyr113Cys
Conflicting
Single submitter
Inborn genetic diseases
-
PTS p.Val126Asp
Uncertain significance
Single submitter
BH4-deficient hyperphenylalaninemia A
-
PTS p.Asn92Asp
Uncertain significance
No assertion criteria
BH4-deficient hyperphenylalaninemia A
-
PTS p.Asp136Asn
Uncertain significance
No assertion criteria
BH4-deficient hyperphenylalaninemia A
-
PTS p.Glu145Lys
Uncertain significance
No assertion criteria
BH4-deficient hyperphenylalaninemia A
-
PTS p.Leu31Ile
Uncertain significance
No assertion criteria
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
All PTS variants
Pathogenic 30
- c.186+1G>A Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.186+1G>T Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.84-3C>G Multiple submitters PTS-related disorder
- p.Asn52Ser Multiple submitters PTS-related disorder
- p.Asn72Lys Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Asp96Asn Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Phe40fs Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Pro87Leu Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Pro87Ser Multiple submitters hyperphenylalaninemia due to tetrahydrobiopterin deficiency ⚠
- p.Thr106Met Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Thr67Met Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Val132fs Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.163+696_163+750del Single submitter BH4-deficient hyperphenylalaninemia A
- c.164-7T>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.187-2A>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-2A>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+2T>C Single submitter BH4-deficient hyperphenylalaninemia A
- p.Asn36fs Single submitter BH4-deficient hyperphenylalaninemia A
- p.Asp64Ter Single submitter BH4-deficient hyperphenylalaninemia A
- p.Glu108Ter Single submitter BH4-deficient hyperphenylalaninemia A
- p.Lys29Ter Single submitter BH4-deficient hyperphenylalaninemia A
- p.Pro98fs Single submitter BH4-deficient hyperphenylalaninemia A
- p.Thr67Lys Single submitter BH4-deficient hyperphenylalaninemia A
- p.Tyr128Ter Single submitter BH4-deficient hyperphenylalaninemia A
- p.Tyr133Ter Single submitter BH4-deficient hyperphenylalaninemia A
- p.Tyr53Ter Single submitter BH4-deficient hyperphenylalaninemia A
- p.Tyr79fs Single submitter BH4-deficient hyperphenylalaninemia A
- p.Tyr99Cys Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Val124Leu Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Val121fs No assertion criteria Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
Pathogenic/Likely pathogenic 21
- c.315-1G>A Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.315-2A>G Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.84-291A>G Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Ala111Thr Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Asp136Val Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Glu134Lys Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Glu134Ter Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Glu81= Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.His49Arg Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Ile114Met Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Ile63Val Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Leu127Phe Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Lys129Glu Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Lys91Arg Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Met80Val Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Pro123Ser Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Ser32Gly Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Tyr99Ter Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Val56Met Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Val57del Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Val59fs Multiple submitters BH4-deficient hyperphenylalaninemia A
Likely pathogenic 33
- c.187-2A>G Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.243_243+1dup Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.84-1G>A Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.84-2A>G Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Asn117Lys Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Asp136Gly Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Asp94Gly Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Gln86Ter Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Glu82Gly Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Val70fs Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.163+1G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.164-4_165del Single submitter BH4-deficient hyperphenylalaninemia A
- c.243+1G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.243+2T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-1G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+1G>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.315-2A>C Single submitter BH4-deficient hyperphenylalaninemia A
- p.Ala111Ser Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Asn47Asp Single submitter BH4-deficient hyperphenylalaninemia A
- p.Gln119Ter Single submitter BH4-deficient hyperphenylalaninemia A
- p.Glu81Ala Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Ile139Asn Single submitter
- p.Leu88fs Single submitter BH4-deficient hyperphenylalaninemia A
- p.Lys78fs Single submitter BH4-deficient hyperphenylalaninemia A
- p.Met80Thr Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Val124Ala Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Val126_Leu127insTer Single submitter BH4-deficient hyperphenylalaninemia A
- c.164-2A>G No assertion criteria BH4-deficient hyperphenylalaninemia A
- c.315-1G>C No assertion criteria BH4-deficient hyperphenylalaninemia A
- c.(?_-1 No assertion criteria metabolic disease
- p.Asn36Lys No assertion criteria GTP cyclohydrolase I deficiency with hyperphenylalaninemia
- p.Leu76fs No assertion criteria BH4-deficient hyperphenylalaninemia A
- p.Tyr113fs No assertion criteria BH4-deficient hyperphenylalaninemia A
Conflicting classifications of pathogenicity 17
- c.164-716A>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.*60T>C Single submitter BH4-deficient hyperphenylalaninemia A
- p.Ala83Glu Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Asn44= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Asp116Gly Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Glu35Gly Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Gly41Arg Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Ile114Val Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Leu127Val Single submitter Inborn genetic diseases ⚠
- p.Lys120Asn Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Lys91Glu Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Pro65= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Ser32Asn Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Tyr113Cys Single submitter Inborn genetic diseases ⚠
- p.Val103Ala Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Val104= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Val70Asp Single submitter BH4-deficient hyperphenylalaninemia A ⚠
Benign 12
- c.163+14T>C Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.163+718TTG[3] Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.164-97T>C Multiple submitters
- c.187-81A>G Multiple submitters
- c.243+94T>A Multiple submitters
- c.84-7del Multiple submitters
- c.84-7dup Multiple submitters
- c.163+719dup Single submitter BH4-deficient hyperphenylalaninemia A
- c.164-248C>T Single submitter
- c.164-287A>G Single submitter
- c.164-316C>T Single submitter
- c.315-8del Single submitter BH4-deficient hyperphenylalaninemia A
Benign/Likely benign 2
- c.315-3T>C Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.315-8dup Multiple submitters BH4-deficient hyperphenylalaninemia A
Likely benign 119
- c.163+121A>G Multiple submitters
- c.187-52G>A Multiple submitters
- c.243+9A>G Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Tyr133= Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Val140= Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.163+133G>A Single submitter
- c.163+14_163+15inv Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+17T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+697A>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+711T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+717T>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+720G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+729_163+730del Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+732T>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+746G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+7G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.164-10C>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.164-258C>A Single submitter
- c.164-4A>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.164-4A>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.164-714C>T Single submitter
- c.164-734C>T Single submitter
- c.164-7T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+14A>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+16A>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+17T>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+18T>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+18T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+19del Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+19T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+20G>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+7G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+7G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.186+9A>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.187-10T>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.187-177A>G Single submitter
- c.187-58C>T Single submitter
- c.187-8T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.243+10T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.243+10T>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.243+11G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.243+13T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.243+15G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.243+30C>G Single submitter
- c.243+7G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-13G>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-17C>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-18C>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-4C>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-4C>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-8G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-8G>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-8G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.244-9T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+10A>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+11C>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+13G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+14T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+14T>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+20G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+7G>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.314+8G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.315-17del Single submitter BH4-deficient hyperphenylalaninemia A
- c.315-17G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.315-17G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.315-20T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.315-5T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.315-6T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.315-8T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.83+190C>A Single submitter
- c.84-10T>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-15T>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-18T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-4T>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-5del Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-5G>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-5G>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-5G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-6G>T Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-7T>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.84-8T>C Single submitter BH4-deficient hyperphenylalaninemia A
- p.Ala101= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Ala111= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Ala74= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Ala83= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Asn109= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Asn36= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Asn44Ser Single submitter Inborn genetic diseases ⚠
- p.Asn47= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Asp64= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Asp96= Single submitter
- p.Gly41= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Gly48= Single submitter BH4-deficient hyperphenylalaninemia A
- p.His49= Single submitter BH4-deficient hyperphenylalaninemia A
- p.His60= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Leu39= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Leu76= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Leu93= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Lys131= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Lys77= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Lys91= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Phe100= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Phe40= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Pro123= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Pro87= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Thr106= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Thr135= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Thr58= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Tyr53= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Tyr79= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Val103= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Val124= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Val130= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Val56= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Val59= Single submitter BH4-deficient hyperphenylalaninemia A
- p.Val97= Single submitter BH4-deficient hyperphenylalaninemia A
- c.163+753C>T No assertion criteria PTS-related disorder
- c.164-718C>T No assertion criteria PTS-related disorder
- c.84-3C>T No assertion criteria
Uncertain significance 52
- c.164-672C>T Multiple submitters BH4-deficient hyperphenylalaninemia A
- c.84-323A>T Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Asn44Asp Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- p.Glu62= Multiple submitters BH4-deficient hyperphenylalaninemia A
- p.Gly50Arg Multiple submitters BH4-deficient hyperphenylalaninemia A ⚠
- c.164-37dup Single submitter BH4-deficient hyperphenylalaninemia A
- c.243+4A>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.*148C>A Single submitter BH4-deficient hyperphenylalaninemia A
- c.*16T>C Single submitter BH4-deficient hyperphenylalaninemia A
- c.*213A>G Single submitter BH4-deficient hyperphenylalaninemia A
- c.*58G>C Single submitter BH4-deficient hyperphenylalaninemia A
- p.Ala101Val Single submitter ⚠
- p.Ala66Thr Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Asn117Asp Single submitter ⚠
- p.Asn138His Single submitter ⚠
- p.Asn36Asp Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Asn92His Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Asp33Val Single submitter ⚠
- p.Asp94Glu Single submitter ⚠
- p.Asp94Tyr Single submitter ⚠
- p.Gln119Arg Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Glu35Asp Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Gly50Glu Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.His51Tyr Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.His60Pro Single submitter Inborn genetic diseases ⚠
- p.Leu122Ile Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Lys143Asn Single submitter BH4-deficient hyperphenylalaninemia A
- p.Lys29Ile Single submitter BH4-deficient hyperphenylalaninemia A
- p.Met69Val Single submitter ⚠
- p.Met71Thr Single submitter ⚠
- p.Met71Val Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Phe100Val Single submitter ⚠
- p.Phe40Leu Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Pro46Thr Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Pro65Leu Single submitter Inborn genetic diseases ⚠
- p.Pro65Ser Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Pro65Thr Single submitter Inborn genetic diseases ⚠
- p.Pro98Gln Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Pro98Ser Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Tyr53Ser Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Val126Asp Single submitter BH4-deficient hyperphenylalaninemia A ⚠
- p.Val132Leu Single submitter Inborn genetic diseases
- p.Asn109Ser No assertion criteria BH4-deficient hyperphenylalaninemia A ⚠
- p.Asn92Asp No assertion criteria BH4-deficient hyperphenylalaninemia A ⚠
- p.Asp136Asn No assertion criteria BH4-deficient hyperphenylalaninemia A ⚠
- p.Glu134Asp No assertion criteria BH4-deficient hyperphenylalaninemia A ⚠
- p.Glu145Lys No assertion criteria BH4-deficient hyperphenylalaninemia A ⚠
- p.Leu31Ile No assertion criteria GTP cyclohydrolase I deficiency with hyperphenylalaninemia ⚠
- p.Met80Ile No assertion criteria PTS-related disorder
- p.Ter146Tyr No assertion criteria BH4-deficient hyperphenylalaninemia A
- p.Val132Ala No assertion criteria BH4-deficient hyperphenylalaninemia A ⚠
- p.Val97Met No assertion criteria BH4-deficient hyperphenylalaninemia A ⚠