PTBP3 — 63 ClinVar variants
All ClinVar germline PTBP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
63 Uncertain significance
Full PTBP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTBP3 c.-51C>T Uncertain significance Single submitter
- PTBP3 c.-5T>C Uncertain significance Single submitter
- PTBP3 p.Ala122Val Uncertain significance Single submitter
- PTBP3 p.Ala135Thr Uncertain significance Single submitter
- PTBP3 p.Ala264Pro Uncertain significance Single submitter
- PTBP3 p.Ala286Thr Uncertain significance Single submitter
- PTBP3 p.Ala292Val Uncertain significance Single submitter
- PTBP3 p.Ala377Val Uncertain significance Single submitter
- PTBP3 p.Arg224Leu Uncertain significance Single submitter
- PTBP3 p.Arg22Gln Uncertain significance Single submitter
- PTBP3 p.Arg31Cys Uncertain significance Single submitter
- PTBP3 p.Asn104Ser Uncertain significance Single submitter
- PTBP3 p.Asn112Ser Uncertain significance Single submitter
- PTBP3 p.Asn142Ser Uncertain significance Single submitter
- PTBP3 p.Asn2Ser Uncertain significance Single submitter
- PTBP3 p.Asn425Ser Uncertain significance Single submitter
- PTBP3 p.Gln101Arg Uncertain significance Single submitter
- PTBP3 p.Gln116His Uncertain significance Single submitter
- PTBP3 p.Gln197His Uncertain significance Single submitter
- PTBP3 p.Glu107Gly Uncertain significance Single submitter
- PTBP3 p.Glu107Lys Uncertain significance Single submitter
- PTBP3 p.Glu143Gly Uncertain significance Single submitter
- PTBP3 p.Glu46Lys Uncertain significance Single submitter
- PTBP3 p.Gly271Ala Uncertain significance Single submitter
- PTBP3 p.Gly271Val Uncertain significance Single submitter
- PTBP3 p.Ile326Val Uncertain significance Single submitter
- PTBP3 p.Ile498Val Uncertain significance Single submitter
- PTBP3 p.Leu123Pro Uncertain significance Single submitter
- PTBP3 p.Leu147Pro Uncertain significance Single submitter
- PTBP3 p.Leu488Phe Uncertain significance Single submitter
- PTBP3 p.Met263Val Uncertain significance Single submitter
- PTBP3 p.Met318Ile Uncertain significance Single submitter
- PTBP3 p.Pro261His Uncertain significance Single submitter
- PTBP3 p.Ser275Leu Uncertain significance Single submitter
- PTBP3 p.Ser275Pro Uncertain significance Single submitter
- PTBP3 p.Ser388Asn Uncertain significance Single submitter
- PTBP3 p.Thr166Ile Uncertain significance Single submitter
- PTBP3 p.Thr252Ala Uncertain significance Single submitter
- PTBP3 p.Thr252Ser Uncertain significance Single submitter
- PTBP3 p.Thr293Ala Uncertain significance Single submitter
- PTBP3 p.Thr335Ser Uncertain significance Single submitter
- PTBP3 p.Val32Gly Uncertain significance Single submitter
- PTBP3 p.Val32Ile Uncertain significance Single submitter
- PTBP3 p.Val80Ala Uncertain significance Single submitter
- PTBP3 p.Val80Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- PTBP3 c.-39G>A Uncertain significance Single submitter
- PTBP3 p.Arg224His Uncertain significance Single submitter
- PTBP3 p.Arg247His Uncertain significance Single submitter
- PTBP3 p.Asn115His Uncertain significance Single submitter
- PTBP3 p.Asn84Asp Uncertain significance Single submitter
- PTBP3 p.Gln214Lys Uncertain significance Single submitter
- PTBP3 p.Gly328Glu Uncertain significance Single submitter
- PTBP3 p.Gly492Glu Uncertain significance Single submitter
- PTBP3 p.Ile454Val Uncertain significance Single submitter
- PTBP3 p.Lys403Arg Uncertain significance Single submitter
- PTBP3 p.Met82Val Uncertain significance Single submitter
- PTBP3 p.Pro344Leu Uncertain significance Single submitter
- PTBP3 p.Ser232Gly Uncertain significance Single submitter
All PTBP3 variants
Uncertain significance 63
- c.-39G>A Single submitter ⚠
- c.-51C>T Single submitter ⚠
- c.-52+2995G>C Single submitter
- c.-5T>C Single submitter ⚠
- p.Ala122Val Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala264Pro Single submitter ⚠
- p.Ala286Thr Single submitter ⚠
- p.Ala292Val Single submitter ⚠
- p.Ala377Val Single submitter ⚠
- p.Arg224His Single submitter ⚠
- p.Arg224Leu Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg247His Single submitter ⚠
- p.Arg31Cys Single submitter ⚠
- p.Arg94Gln Single submitter
- p.Asn104Ser Single submitter ⚠
- p.Asn112Ser Single submitter ⚠
- p.Asn115His Single submitter ⚠
- p.Asn142Ser Single submitter ⚠
- p.Asn2Ser Single submitter ⚠
- p.Asn425Ser Single submitter ⚠
- p.Asn84Asp Single submitter ⚠
- p.Gln101Arg Single submitter ⚠
- p.Gln116His Single submitter ⚠
- p.Gln197His Single submitter ⚠
- p.Gln214Lys Single submitter ⚠
- p.Glu107Gly Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu143Gly Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Gly271Ala Single submitter ⚠
- p.Gly271Val Single submitter ⚠
- p.Gly328Glu Single submitter ⚠
- p.Gly492Glu Single submitter ⚠
- p.Ile326Val Single submitter ⚠
- p.Ile454Val Single submitter ⚠
- p.Ile498Val Single submitter ⚠
- p.Leu123Pro Single submitter ⚠
- p.Leu147Pro Single submitter ⚠
- p.Leu488Phe Single submitter ⚠
- p.Lys403Arg Single submitter ⚠
- p.Met263Val Single submitter ⚠
- p.Met318Ile Single submitter ⚠
- p.Met82Val Single submitter ⚠
- p.Pro261His Single submitter ⚠
- p.Pro344Leu Single submitter ⚠
- p.Ser232Gly Single submitter ⚠
- p.Ser275Leu Single submitter ⚠
- p.Ser275Pro Single submitter ⚠
- p.Ser388Asn Single submitter ⚠
- p.Thr166Ile Single submitter ⚠
- p.Thr252Ala Single submitter ⚠
- p.Thr252Ser Single submitter ⚠
- p.Thr293Ala Single submitter ⚠
- p.Thr335Ser Single submitter ⚠
- p.Tyr11Cys Single submitter
- p.Tyr99His Single submitter
- p.Val32Gly Single submitter ⚠
- p.Val32Ile Single submitter ⚠
- p.Val80Ala Single submitter ⚠
- p.Val80Ile Single submitter ⚠
- p.Val83Leu Single submitter