GTF2F2 — 27 ClinVar variants
All ClinVar germline GTF2F2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely benign · 26 Uncertain significance
Full GTF2F2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GTF2F2 p.Arg177Leu Uncertain significance Single submitter
- GTF2F2 p.Arg51Lys Uncertain significance Single submitter
- GTF2F2 p.Asn158Ser Uncertain significance Single submitter
- GTF2F2 p.Gln144Arg Uncertain significance Single submitter
- GTF2F2 p.Gln223His Uncertain significance Single submitter
- GTF2F2 p.Glu107Lys Uncertain significance Single submitter
- GTF2F2 p.His229Tyr Uncertain significance Single submitter
- GTF2F2 p.His66Arg Uncertain significance Single submitter
- GTF2F2 p.Ile109Val Uncertain significance Single submitter
- GTF2F2 p.Ile68Thr Uncertain significance Single submitter
- GTF2F2 p.Leu199Val Uncertain significance Single submitter
- GTF2F2 p.Leu9Met Uncertain significance Single submitter
- GTF2F2 p.Pro209Leu Uncertain significance Single submitter
- GTF2F2 p.Val84Phe Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- GTF2F2 p.Ala178Gly Uncertain significance Single submitter
- GTF2F2 p.Arg44Gln Uncertain significance Single submitter
- GTF2F2 p.Arg44Trp Uncertain significance Single submitter
- GTF2F2 p.Asp185Asn Uncertain significance Single submitter
- GTF2F2 p.Gln86Glu Uncertain significance Single submitter
- GTF2F2 p.Glu134Asp Uncertain significance Single submitter
- GTF2F2 p.Gly90Arg Uncertain significance Single submitter
- GTF2F2 p.Thr10Ile Uncertain significance Single submitter
- GTF2F2 p.Thr232Ile Uncertain significance Single submitter
- GTF2F2 p.Val23Ile Uncertain significance Single submitter
All GTF2F2 variants
Likely benign 1
- p.Asp172= Single submitter
Uncertain significance 26
- p.Ala178Gly Single submitter ⚠
- p.Arg177Leu Single submitter ⚠
- p.Arg44Gln Single submitter ⚠
- p.Arg44Trp Single submitter ⚠
- p.Arg51Lys Single submitter ⚠
- p.Asn158Ser Single submitter ⚠
- p.Asp185Asn Single submitter ⚠
- p.Asp204Val Single submitter
- p.Gln144Arg Single submitter ⚠
- p.Gln223His Single submitter ⚠
- p.Gln86Glu Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu134Asp Single submitter ⚠
- p.Gly90Arg Single submitter ⚠
- p.His229Tyr Single submitter ⚠
- p.His66Arg Single submitter ⚠
- p.Ile109Val Single submitter ⚠
- p.Ile68Thr Single submitter ⚠
- p.Leu199Val Single submitter ⚠
- p.Leu9Met Single submitter ⚠
- p.Lys22Arg Single submitter
- p.Pro209Leu Single submitter ⚠
- p.Thr10Ile Single submitter ⚠
- p.Thr232Ile Single submitter ⚠
- p.Val23Ile Single submitter ⚠
- p.Val84Phe Single submitter ⚠