TPH2 — 72 ClinVar variants
All ClinVar germline TPH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
5 Benign · 2 Benign/Likely benign · 2 Likely benign · 63 Uncertain significance
Full TPH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TPH2 p.Ala328Gly
Uncertain significance
Single submitter
attention deficit-hyperactivity disorder, susceptibility to, 7
- TPH2 p.Ala342Val Uncertain significance Single submitter
- TPH2 p.Ala399Thr Uncertain significance Single submitter
-
TPH2 p.Arg237Gln
Uncertain significance
Single submitter
major depressive disorder
-
TPH2 p.Arg471Cys
Uncertain significance
Single submitter
Tryptophan 5-monooxygenase deficiency
-
TPH2 p.Arg88Cys
Uncertain significance
Single submitter
Tryptophan 5-monooxygenase deficiency
- TPH2 p.Asn120Lys Uncertain significance Single submitter
- TPH2 p.Asn140Ser Uncertain significance Single submitter
- TPH2 p.Asn185Lys Uncertain significance Single submitter
- TPH2 p.Asn40Thr Uncertain significance Single submitter
-
TPH2 p.Asn482Asp
Uncertain significance
Single submitter
Tryptophan 5-monooxygenase deficiency
- TPH2 p.Asp434Val Uncertain significance Single submitter
- TPH2 p.Gln334Glu Uncertain significance Single submitter
- TPH2 p.Glu386Gln Uncertain significance Single submitter
- TPH2 p.Glu417Lys Uncertain significance Single submitter
- TPH2 p.Gly115Glu Uncertain significance Single submitter
- TPH2 p.Gly200Cys Uncertain significance Single submitter
- TPH2 p.Gly42Arg Uncertain significance Single submitter
- TPH2 p.Ile439Phe Uncertain significance Single submitter
- TPH2 p.Leu291Arg Uncertain significance Single submitter
- TPH2 p.Leu36Arg Uncertain significance Single submitter
-
TPH2 p.Leu36Pro
Uncertain significance
Single submitter
Tryptophan 5-monooxygenase deficiency
-
TPH2 p.Pro138Leu
Uncertain significance
Single submitter
Tryptophan 5-monooxygenase deficiency
- TPH2 p.Ser34Pro Uncertain significance Single submitter
- TPH2 p.Ser462Thr Uncertain significance Single submitter
- TPH2 p.Thr414Ser Uncertain significance Single submitter
- TPH2 p.Val275Leu Uncertain significance Single submitter
- TPH2 p.Arg100Gln Uncertain significance No assertion criteria
Predictors split 10
The independent predictors disagree with each other — read with care.
-
TPH2 p.Pro206Ser
Uncertain significance
Multiple submitters
major depressive disorder
- TPH2 p.Arg253Gly Uncertain significance Single submitter
- TPH2 p.Asn448Ser Uncertain significance Single submitter
-
TPH2 p.Asp473Asn
Uncertain significance
Single submitter
Tryptophan 5-monooxygenase deficiency
- TPH2 p.Glu417Gly Uncertain significance Single submitter
- TPH2 p.Ile362Met Uncertain significance Single submitter
- TPH2 p.Ile439Val Uncertain significance Single submitter
- TPH2 p.Thr274Met Uncertain significance Single submitter
- TPH2 p.Trp13Gly Uncertain significance Single submitter
- TPH2 p.Val195Glu Uncertain significance Single submitter
All TPH2 variants
Benign 5
- c.-52A>G Multiple submitters Tryptophan 5-monooxygenase deficiency
- c.*479G>A Multiple submitters Tryptophan 5-monooxygenase deficiency
- p.Ala375= Multiple submitters Tryptophan 5-monooxygenase deficiency
- p.Pro312= Multiple submitters Tryptophan 5-monooxygenase deficiency
- p.Tyr212= Multiple submitters
Benign/Likely benign 2
- p.Leu36Val Multiple submitters Tryptophan 5-monooxygenase deficiency
- p.Pro180= Multiple submitters Tryptophan 5-monooxygenase deficiency
Likely benign 2
- c.*149G>A Multiple submitters Tryptophan 5-monooxygenase deficiency
- p.Ser41Tyr Multiple submitters major depressive disorder
Uncertain significance 63
- p.Pro206Ser Multiple submitters major depressive disorder ⚠
- c.1164+7A>G Single submitter Tryptophan 5-monooxygenase deficiency
- c.1298+14T>C Single submitter Tryptophan 5-monooxygenase deficiency
- c.256-12G>A Single submitter Tryptophan 5-monooxygenase deficiency
- c.439+9G>A Single submitter Tryptophan 5-monooxygenase deficiency
- c.609-7T>C Single submitter Tryptophan 5-monooxygenase deficiency
- c.-34C>G Single submitter Tryptophan 5-monooxygenase deficiency
- c.-82C>T Single submitter Tryptophan 5-monooxygenase deficiency
- c.-88G>T Single submitter Tryptophan 5-monooxygenase deficiency
- c.*304C>T Single submitter Tryptophan 5-monooxygenase deficiency
- c.*365A>G Single submitter Tryptophan 5-monooxygenase deficiency
- c.*36T>G Single submitter Tryptophan 5-monooxygenase deficiency
- c.*424C>T Single submitter Tryptophan 5-monooxygenase deficiency
- c.*434G>A Single submitter Tryptophan 5-monooxygenase deficiency
- c.*590A>G Single submitter Tryptophan 5-monooxygenase deficiency
- c.*650T>C Single submitter Tryptophan 5-monooxygenase deficiency
- c.*659C>T Single submitter Tryptophan 5-monooxygenase deficiency
- c.*660G>A Single submitter Tryptophan 5-monooxygenase deficiency
- c.*731G>C Single submitter Tryptophan 5-monooxygenase deficiency
- p.Ala328Gly Single submitter attention deficit-hyperactivity disorder, susceptibility to, 7 ⚠
- p.Ala342Val Single submitter ⚠
- p.Ala399Thr Single submitter ⚠
- p.Arg237Gln Single submitter major depressive disorder ⚠
- p.Arg253Gly Single submitter ⚠
- p.Arg471Cys Single submitter Tryptophan 5-monooxygenase deficiency ⚠
- p.Arg88Cys Single submitter Tryptophan 5-monooxygenase deficiency ⚠
- p.Asn120Lys Single submitter ⚠
- p.Asn140Ser Single submitter ⚠
- p.Asn185Lys Single submitter ⚠
- p.Asn242= Single submitter Tryptophan 5-monooxygenase deficiency
- p.Asn40Thr Single submitter ⚠
- p.Asn448Ser Single submitter ⚠
- p.Asn482Asp Single submitter Tryptophan 5-monooxygenase deficiency ⚠
- p.Asp350= Single submitter Tryptophan 5-monooxygenase deficiency
- p.Asp434Val Single submitter ⚠
- p.Asp473Asn Single submitter Tryptophan 5-monooxygenase deficiency ⚠
- p.Gln334Glu Single submitter ⚠
- p.Glu226= Single submitter Tryptophan 5-monooxygenase deficiency
- p.Glu386Gln Single submitter ⚠
- p.Glu417Gly Single submitter ⚠
- p.Glu417Lys Single submitter ⚠
- p.Gly115Glu Single submitter ⚠
- p.Gly200Cys Single submitter ⚠
- p.Gly42Arg Single submitter ⚠
- p.Ile132= Single submitter Tryptophan 5-monooxygenase deficiency
- p.Ile362Met Single submitter ⚠
- p.Ile439Phe Single submitter ⚠
- p.Ile439Val Single submitter ⚠
- p.Leu291Arg Single submitter ⚠
- p.Leu36Arg Single submitter ⚠
- p.Leu36Pro Single submitter Tryptophan 5-monooxygenase deficiency ⚠
- p.Pro138Leu Single submitter Tryptophan 5-monooxygenase deficiency ⚠
- p.Ser34Pro Single submitter ⚠
- p.Ser444Ter Single submitter
- p.Ser462Thr Single submitter ⚠
- p.Thr274Met Single submitter ⚠
- p.Thr414Ser Single submitter ⚠
- p.Trp13Gly Single submitter ⚠
- p.Trp142Gly Single submitter
- p.Tyr419= Single submitter Tryptophan 5-monooxygenase deficiency
- p.Val195Glu Single submitter ⚠
- p.Val275Leu Single submitter ⚠
- p.Arg100Gln No assertion criteria ⚠