TPH1 — 56 ClinVar variants
All ClinVar germline TPH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Conflicting · 4 Benign · 2 Likely benign · 49 Uncertain significance
Full TPH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TPH1 p.Arg144His Uncertain significance Single submitter
- TPH1 p.Arg145Gln Uncertain significance Single submitter
- TPH1 p.Arg224Cys Uncertain significance Single submitter
- TPH1 p.Arg230Cys Uncertain significance Single submitter
- TPH1 p.Asn85His Uncertain significance Single submitter
- TPH1 p.Asp130Glu Uncertain significance Single submitter
- TPH1 p.Asp130Gly Uncertain significance Single submitter
- TPH1 p.Gln291Arg Uncertain significance Single submitter
- TPH1 p.Gly101Val Uncertain significance Single submitter
- TPH1 p.His272Arg Uncertain significance Single submitter
- TPH1 p.His348Arg Uncertain significance Single submitter
- TPH1 p.Ile32Val Uncertain significance Single submitter
- TPH1 p.Ile76Val Uncertain significance Single submitter
- TPH1 p.Leu115Arg Uncertain significance Single submitter
- TPH1 p.Leu221Phe Uncertain significance Single submitter
- TPH1 p.Leu341Phe Uncertain significance Single submitter
- TPH1 p.Leu87Phe Uncertain significance Single submitter
- TPH1 p.Lys412Asn Uncertain significance Single submitter
- TPH1 p.Phe369Ser Uncertain significance Single submitter
- TPH1 p.Pro262His Uncertain significance Single submitter
- TPH1 p.Pro279Leu Uncertain significance Single submitter
- TPH1 p.Tyr264Cys Uncertain significance Single submitter
- TPH1 p.Val122Ile Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- TPH1 p.Arg17Thr Uncertain significance Single submitter
- TPH1 p.Arg191Ser Uncertain significance Single submitter
- TPH1 p.Arg224His Uncertain significance Single submitter
- TPH1 p.Arg395Cys Uncertain significance Single submitter
- TPH1 p.Arg406Trp Uncertain significance Single submitter
- TPH1 p.Asn120Ser Uncertain significance Single submitter
- TPH1 p.Asn210Lys Uncertain significance Single submitter
- TPH1 p.Asn219Ser Uncertain significance Single submitter
- TPH1 p.Asn26Ser Uncertain significance Single submitter
- TPH1 p.Asp433Gly Uncertain significance Single submitter
- TPH1 p.Gln288Arg Uncertain significance Single submitter
- TPH1 p.Gln362Arg Uncertain significance Single submitter
- TPH1 p.Glu208Lys Uncertain significance Single submitter
- TPH1 p.Leu345Phe Uncertain significance Single submitter
- TPH1 p.Leu35Val Uncertain significance Single submitter
- TPH1 p.Lys156Glu Uncertain significance Single submitter
- TPH1 p.Lys163Asn Uncertain significance Single submitter
- TPH1 p.Lys394Arg Uncertain significance Single submitter
- TPH1 p.Lys81Arg Uncertain significance Single submitter
- TPH1 p.Pro160Ala Uncertain significance Single submitter
- TPH1 p.Ser127Tyr Uncertain significance Single submitter
- TPH1 p.Ser259Cys Uncertain significance Single submitter
- TPH1 p.Ser378Cys Uncertain significance Single submitter
- TPH1 p.Tyr185His Uncertain significance Single submitter
- TPH1 p.Val177Ile Likely benign Single submitter
-
TPH1 p.Asn57Ile
Benign
No assertion criteria
TPH1-related disorder
All TPH1 variants
Conflicting classifications of pathogenicity 1
- p.His426Asp Single submitter ⚠
Benign 4
- p.Leu365= Multiple submitters
- p.His78Tyr Single submitter
- c.804-7C>A No assertion criteria TPH1-related disorder
- p.Asn57Ile No assertion criteria TPH1-related disorder ⚠
Likely benign 2
- p.Arg406Gln Single submitter
- p.Val177Ile Single submitter ⚠
Uncertain significance 49
- c.302-2_311del Single submitter
- p.Arg144His Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg17Thr Single submitter ⚠
- p.Arg191Ser Single submitter ⚠
- p.Arg224Cys Single submitter ⚠
- p.Arg224His Single submitter ⚠
- p.Arg230Cys Single submitter ⚠
- p.Arg395Cys Single submitter ⚠
- p.Arg406Trp Single submitter ⚠
- p.Asn120Ser Single submitter ⚠
- p.Asn210Lys Single submitter ⚠
- p.Asn219Ser Single submitter ⚠
- p.Asn26Ser Single submitter ⚠
- p.Asn85His Single submitter ⚠
- p.Asp130Glu Single submitter ⚠
- p.Asp130Gly Single submitter ⚠
- p.Asp433Gly Single submitter ⚠
- p.Gln288Arg Single submitter ⚠
- p.Gln291Arg Single submitter ⚠
- p.Gln362Arg Single submitter ⚠
- p.Glu208Lys Single submitter ⚠
- p.Gly101Val Single submitter ⚠
- p.His272Arg Single submitter ⚠
- p.His348Arg Single submitter ⚠
- p.Ile32Val Single submitter ⚠
- p.Ile76Val Single submitter ⚠
- p.Leu115Arg Single submitter ⚠
- p.Leu221Phe Single submitter ⚠
- p.Leu341Phe Single submitter ⚠
- p.Leu345Phe Single submitter ⚠
- p.Leu35Val Single submitter ⚠
- p.Leu87Phe Single submitter ⚠
- p.Lys156Glu Single submitter ⚠
- p.Lys163Asn Single submitter ⚠
- p.Lys394Arg Single submitter ⚠
- p.Lys412Asn Single submitter ⚠
- p.Lys81Arg Single submitter ⚠
- p.Phe369Ser Single submitter ⚠
- p.Pro160Ala Single submitter ⚠
- p.Pro262His Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Ser127Tyr Single submitter ⚠
- p.Ser259Cys Single submitter ⚠
- p.Ser378Cys Single submitter ⚠
- p.Tyr185His Single submitter ⚠
- p.Tyr264Cys Single submitter ⚠
- p.Val122Ile Single submitter ⚠
- p.Arg145Ter No assertion criteria TPH1-related disorder