GTPBP4 — 90 ClinVar variants
All ClinVar germline GTPBP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →
2 Benign · 3 Likely benign · 85 Uncertain significance
Full GTPBP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 80
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GTPBP4 p.Ala132Val Uncertain significance Single submitter
- GTPBP4 p.Ala250Val Uncertain significance Single submitter
- GTPBP4 p.Ala341Val Uncertain significance Single submitter
- GTPBP4 p.Ala537Thr Uncertain significance Single submitter
- GTPBP4 p.Arg115Gln Uncertain significance Single submitter
- GTPBP4 p.Arg216Cys Uncertain significance Single submitter
- GTPBP4 p.Arg42Cys Uncertain significance Single submitter
- GTPBP4 p.Arg42His Uncertain significance Single submitter
- GTPBP4 p.Arg42Leu Uncertain significance Single submitter
- GTPBP4 p.Arg547Gln Uncertain significance Single submitter
- GTPBP4 p.Arg572Gln Uncertain significance Single submitter
- GTPBP4 p.Arg602Gln Uncertain significance Single submitter
- GTPBP4 p.Arg602Leu Uncertain significance Single submitter
- GTPBP4 p.Arg602Trp Uncertain significance Single submitter
- GTPBP4 p.Arg633Gly Uncertain significance Single submitter
- GTPBP4 p.Asn281Ser Uncertain significance Single submitter
- GTPBP4 p.Asp165His Uncertain significance Single submitter
- GTPBP4 p.Asp165Val Uncertain significance Single submitter
- GTPBP4 p.Asp292Gly Uncertain significance Single submitter
- GTPBP4 p.Asp337Val Uncertain significance Single submitter
- GTPBP4 p.Asp427Gly Uncertain significance Single submitter
- GTPBP4 p.Asp535Asn Uncertain significance Single submitter
- GTPBP4 p.Asp74Tyr Uncertain significance Single submitter
- GTPBP4 p.Gln218Leu Uncertain significance Single submitter
- GTPBP4 p.Gln273His Uncertain significance Single submitter
- GTPBP4 p.Gln516His Uncertain significance Single submitter
- GTPBP4 p.Gln542Arg Uncertain significance Single submitter
- GTPBP4 p.Gln597Arg Uncertain significance Single submitter
- GTPBP4 p.Glu465Asp Uncertain significance Single submitter
- GTPBP4 p.Glu500Gly Uncertain significance Single submitter
- GTPBP4 p.Gly380Ala Uncertain significance Single submitter
- GTPBP4 p.His91Arg Uncertain significance Single submitter
- GTPBP4 p.Ile329Thr Uncertain significance Single submitter
- GTPBP4 p.Ile429Thr Uncertain significance Single submitter
- GTPBP4 p.Leu105Val Uncertain significance Single submitter
- GTPBP4 p.Leu284Val Uncertain significance Single submitter
- GTPBP4 p.Leu621Trp Uncertain significance Single submitter
- GTPBP4 p.Lys187Glu Uncertain significance Single submitter
- GTPBP4 p.Lys554Asn Uncertain significance Single submitter
- GTPBP4 p.Met585Leu Uncertain significance Single submitter
- GTPBP4 p.Met593Ile Uncertain significance Single submitter
- GTPBP4 p.Met616Val Uncertain significance Single submitter
- GTPBP4 p.Pro13Leu Uncertain significance Single submitter
- GTPBP4 p.Pro197Leu Uncertain significance Single submitter
- GTPBP4 p.Pro229Ser Uncertain significance Single submitter
- GTPBP4 p.Pro316Arg Uncertain significance Single submitter
- GTPBP4 p.Pro378Arg Uncertain significance Single submitter
- GTPBP4 p.Pro506Ser Uncertain significance Single submitter
- GTPBP4 p.Pro560Arg Uncertain significance Single submitter
- GTPBP4 p.Pro560Thr Uncertain significance Single submitter
- GTPBP4 p.Pro561Leu Uncertain significance Single submitter
- GTPBP4 p.Pro618Ser Uncertain significance Single submitter
- GTPBP4 p.Ser24Leu Uncertain significance Single submitter
- GTPBP4 p.Ser567Asn Uncertain significance Single submitter
- GTPBP4 p.Thr170Ile Uncertain significance Single submitter
- GTPBP4 p.Thr511Ala Uncertain significance Single submitter
- GTPBP4 p.Thr591Ala Uncertain significance Single submitter
- GTPBP4 p.Val293Met Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- GTPBP4 p.Arg276Thr Uncertain significance Single submitter
- GTPBP4 p.Arg566Trp Uncertain significance Single submitter
- GTPBP4 p.Arg575Cys Uncertain significance Single submitter
- GTPBP4 p.Arg575Ser Uncertain significance Single submitter
- GTPBP4 p.Asp121Glu Uncertain significance Single submitter
- GTPBP4 p.Asp194Asn Uncertain significance Single submitter
- GTPBP4 p.Asp232Tyr Uncertain significance Single submitter
- GTPBP4 p.Gln153Glu Uncertain significance Single submitter
- GTPBP4 p.Glu608Asp Uncertain significance Single submitter
- GTPBP4 p.His37Asp Uncertain significance Single submitter
- GTPBP4 p.His436Tyr Uncertain significance Single submitter
- GTPBP4 p.His45Arg Uncertain significance Single submitter
- GTPBP4 p.Ile19Thr Uncertain significance Single submitter
- GTPBP4 p.Lys305Glu Uncertain significance Single submitter
- GTPBP4 p.Lys371Thr Uncertain significance Single submitter
- GTPBP4 p.Lys605Asn Uncertain significance Single submitter
- GTPBP4 p.Met137Ile Uncertain significance Single submitter
- GTPBP4 p.Met405Thr Uncertain significance Single submitter
- GTPBP4 p.Pro375Ser Uncertain significance Single submitter
- GTPBP4 p.Thr22Met Uncertain significance Single submitter
- GTPBP4 p.Tyr38His Uncertain significance Single submitter
- GTPBP4 p.Val11Met Uncertain significance Single submitter
All GTPBP4 variants
Likely benign 3
- p.Asn108= Single submitter
- p.Lys522Asn Single submitter
- p.Pro509= Single submitter
Uncertain significance 85
- p.Ala132Val Single submitter ⚠
- p.Ala250Val Single submitter ⚠
- p.Ala341Val Single submitter ⚠
- p.Ala537Thr Single submitter ⚠
- p.Arg115Gln Single submitter ⚠
- p.Arg216Cys Single submitter ⚠
- p.Arg248His Single submitter
- p.Arg276Thr Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg42His Single submitter ⚠
- p.Arg42Leu Single submitter ⚠
- p.Arg547Gln Single submitter ⚠
- p.Arg566Trp Single submitter ⚠
- p.Arg572Gln Single submitter ⚠
- p.Arg575Cys Single submitter ⚠
- p.Arg575His Single submitter
- p.Arg575Ser Single submitter ⚠
- p.Arg602Gln Single submitter ⚠
- p.Arg602Leu Single submitter ⚠
- p.Arg602Trp Single submitter ⚠
- p.Arg633Gly Single submitter ⚠
- p.Asn281Ser Single submitter ⚠
- p.Asp121Glu Single submitter ⚠
- p.Asp165His Single submitter ⚠
- p.Asp165Val Single submitter ⚠
- p.Asp194Asn Single submitter ⚠
- p.Asp232Tyr Single submitter ⚠
- p.Asp292Gly Single submitter ⚠
- p.Asp337Val Single submitter ⚠
- p.Asp427Gly Single submitter ⚠
- p.Asp535Asn Single submitter ⚠
- p.Asp74Tyr Single submitter ⚠
- p.Gln153Glu Single submitter ⚠
- p.Gln218Leu Single submitter ⚠
- p.Gln273His Single submitter ⚠
- p.Gln516His Single submitter ⚠
- p.Gln542Arg Single submitter ⚠
- p.Gln597Arg Single submitter ⚠
- p.Glu465Asp Single submitter ⚠
- p.Glu500Gly Single submitter ⚠
- p.Glu608Asp Single submitter ⚠
- p.Gly380Ala Single submitter ⚠
- p.His37Asp Single submitter ⚠
- p.His436Tyr Single submitter ⚠
- p.His45Arg Single submitter ⚠
- p.His91Arg Single submitter ⚠
- p.Ile19Thr Single submitter ⚠
- p.Ile329Thr Single submitter ⚠
- p.Ile429Thr Single submitter ⚠
- p.Leu105Val Single submitter ⚠
- p.Leu284Val Single submitter ⚠
- p.Leu621Trp Single submitter ⚠
- p.Lys187Glu Single submitter ⚠
- p.Lys305Glu Single submitter ⚠
- p.Lys371Thr Single submitter ⚠
- p.Lys554Asn Single submitter ⚠
- p.Lys605Asn Single submitter ⚠
- p.Met137Ile Single submitter ⚠
- p.Met405Thr Single submitter ⚠
- p.Met585Leu Single submitter ⚠
- p.Met593Ile Single submitter ⚠
- p.Met616Val Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro197Leu Single submitter ⚠
- p.Pro229Ser Single submitter ⚠
- p.Pro316Arg Single submitter ⚠
- p.Pro375Ser Single submitter ⚠
- p.Pro378Arg Single submitter ⚠
- p.Pro506Arg Single submitter
- p.Pro506Ser Single submitter ⚠
- p.Pro560Arg Single submitter ⚠
- p.Pro560Thr Single submitter ⚠
- p.Pro561Leu Single submitter ⚠
- p.Pro618Ser Single submitter ⚠
- p.Ser24Leu Single submitter ⚠
- p.Ser567Asn Single submitter ⚠
- p.Thr170Ile Single submitter ⚠
- p.Thr22Met Single submitter ⚠
- p.Thr511Ala Single submitter ⚠
- p.Thr591Ala Single submitter ⚠
- p.Tyr38His Single submitter ⚠
- p.Tyr441Cys Single submitter
- p.Tyr466Phe Single submitter
- p.Val11Met Single submitter ⚠
- p.Val293Met Single submitter ⚠