GTF3C2 — 97 ClinVar variants
All ClinVar germline GTF3C2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →
5 Likely benign · 92 Uncertain significance
Full GTF3C2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 88
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 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GTF3C2 p.Ala232Val Uncertain significance Single submitter
- GTF3C2 p.Ala305Thr Uncertain significance Single submitter
- GTF3C2 p.Ala346Thr Uncertain significance Single submitter
- GTF3C2 p.Ala416Val Uncertain significance Single submitter
- GTF3C2 p.Ala521Thr Uncertain significance Single submitter
- GTF3C2 p.Ala527Ser Uncertain significance Single submitter
- GTF3C2 p.Ala774Val Uncertain significance Single submitter
- GTF3C2 p.Arg101Gln Uncertain significance Single submitter
- GTF3C2 p.Arg101Trp Uncertain significance Single submitter
- GTF3C2 p.Arg108Gln Uncertain significance Single submitter
- GTF3C2 p.Arg162Gly Uncertain significance Single submitter
- GTF3C2 p.Arg593Gln Uncertain significance Single submitter
- GTF3C2 p.Arg841His Uncertain significance Single submitter
- GTF3C2 p.Arg867His Uncertain significance Single submitter
- GTF3C2 p.Arg876Cys Uncertain significance Single submitter
- GTF3C2 p.Arg876His Uncertain significance Single submitter
- GTF3C2 p.Arg906His Uncertain significance Single submitter
- GTF3C2 p.Asn297Ser Uncertain significance Single submitter
- GTF3C2 p.Asn668Ser Uncertain significance Single submitter
- GTF3C2 p.Asn792Ser Uncertain significance Single submitter
- GTF3C2 p.Asp505Asn Uncertain significance Single submitter
- GTF3C2 p.Asp550Glu Uncertain significance Single submitter
- GTF3C2 p.Asp62Glu Uncertain significance Single submitter
- GTF3C2 p.Cys233Ser Uncertain significance Single submitter
- GTF3C2 p.Cys537Ser Uncertain significance Single submitter
- GTF3C2 p.Gln28Glu Uncertain significance Single submitter
- GTF3C2 p.Glu200Ala Uncertain significance Single submitter
- GTF3C2 p.Glu246Lys Uncertain significance Single submitter
- GTF3C2 p.Glu269Ala Uncertain significance Single submitter
- GTF3C2 p.Glu352Gln Uncertain significance Single submitter
- GTF3C2 p.Glu450Asp Uncertain significance Single submitter
- GTF3C2 p.Glu50Ala Uncertain significance Single submitter
- GTF3C2 p.Glu72Gln Uncertain significance Single submitter
- GTF3C2 p.Glu813Asp Uncertain significance Single submitter
- GTF3C2 p.Gly12Glu Uncertain significance Single submitter
- GTF3C2 p.Gly485Asp Uncertain significance Single submitter
- GTF3C2 p.Gly821Arg Uncertain significance Single submitter
- GTF3C2 p.His312Arg Uncertain significance Single submitter
- GTF3C2 p.His612Arg Uncertain significance Single submitter
- GTF3C2 p.His905Tyr Uncertain significance Single submitter
- GTF3C2 p.Ile653Val Uncertain significance Single submitter
- GTF3C2 p.Ile733Val Uncertain significance Single submitter
- GTF3C2 p.Leu311Phe Uncertain significance Single submitter
- GTF3C2 p.Leu339Phe Uncertain significance Single submitter
- GTF3C2 p.Leu520Met Uncertain significance Single submitter
- GTF3C2 p.Leu601Val Uncertain significance Single submitter
- GTF3C2 p.Leu809Met Uncertain significance Single submitter
- GTF3C2 p.Lys112Arg Uncertain significance Single submitter
- GTF3C2 p.Lys315Arg Uncertain significance Single submitter
- GTF3C2 p.Lys529Asn Uncertain significance Single submitter
- GTF3C2 p.Met20Val Uncertain significance Single submitter
- GTF3C2 p.Pro140Arg Uncertain significance Single submitter
- GTF3C2 p.Pro26Ser Uncertain significance Single submitter
- GTF3C2 p.Pro366Ser Uncertain significance Single submitter
- GTF3C2 p.Pro766Ser Uncertain significance Single submitter
- GTF3C2 p.Pro898Leu Uncertain significance Single submitter
- GTF3C2 p.Pro909Ser Uncertain significance Single submitter
- GTF3C2 p.Pro99Ser Uncertain significance Single submitter
- GTF3C2 p.Ser267Ala Uncertain significance Single submitter
- GTF3C2 p.Ser282Phe Uncertain significance Single submitter
- GTF3C2 p.Ser412Leu Uncertain significance Single submitter
- GTF3C2 p.Ser600Thr Uncertain significance Single submitter
- GTF3C2 p.Ser765Asn Uncertain significance Single submitter
- GTF3C2 p.Ser776Phe Uncertain significance Single submitter
- GTF3C2 p.Ser805Leu Uncertain significance Single submitter
- GTF3C2 p.Ser85Pro Uncertain significance Single submitter
- GTF3C2 p.Ser893Phe Uncertain significance Single submitter
- GTF3C2 p.Ser904Gly Uncertain significance Single submitter
- GTF3C2 p.Ser92Leu Uncertain significance Single submitter
- GTF3C2 p.Thr486Ile Uncertain significance Single submitter
- GTF3C2 p.Thr55Ile Uncertain significance Single submitter
- GTF3C2 p.Thr903Ala Uncertain significance Single submitter
- GTF3C2 p.Trp335Arg Uncertain significance Single submitter
- GTF3C2 p.Tyr8Asn Uncertain significance Single submitter
- GTF3C2 p.Val17Met Uncertain significance Single submitter
- GTF3C2 p.Val190Met Uncertain significance Single submitter
- GTF3C2 p.Val210Leu Uncertain significance Single submitter
- GTF3C2 p.Val274Glu Uncertain significance Single submitter
- GTF3C2 p.Val853Leu Uncertain significance Single submitter
- GTF3C2 p.Val9Leu Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- GTF3C2 p.Arg184His Uncertain significance Single submitter
- GTF3C2 p.Arg644Gln Uncertain significance Single submitter
- GTF3C2 p.Asp690Glu Uncertain significance Single submitter
- GTF3C2 p.Leu803Ser Uncertain significance Single submitter
- GTF3C2 p.Leu879Pro Uncertain significance Single submitter
- GTF3C2 p.Met818Ile Uncertain significance Single submitter
- GTF3C2 p.Phe248Leu Uncertain significance Single submitter
- GTF3C2 p.Phe628Ile Uncertain significance Single submitter
All GTF3C2 variants
Likely benign 5
- p.Arg228Gln Single submitter
- p.Asn886Ser Single submitter
- p.Gly443= Single submitter
- p.Tyr8Cys Single submitter
- p.Val257Gly Single submitter
Uncertain significance 92
- p.Ala232Val Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Ala346Thr Single submitter ⚠
- p.Ala416Val Single submitter ⚠
- p.Ala521Thr Single submitter ⚠
- p.Ala527Ser Single submitter ⚠
- p.Ala774Val Single submitter ⚠
- p.Arg101Gln Single submitter ⚠
- p.Arg101Trp Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg162Gly Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg593Gln Single submitter ⚠
- p.Arg644Gln Single submitter ⚠
- p.Arg645Cys Single submitter
- p.Arg750Gln Single submitter
- p.Arg841His Single submitter ⚠
- p.Arg867His Single submitter ⚠
- p.Arg876Cys Single submitter ⚠
- p.Arg876His Single submitter ⚠
- p.Arg906His Single submitter ⚠
- p.Asn297Ser Single submitter ⚠
- p.Asn668Ser Single submitter ⚠
- p.Asn792Ser Single submitter ⚠
- p.Asp505Asn Single submitter ⚠
- p.Asp550Glu Single submitter ⚠
- p.Asp62Glu Single submitter ⚠
- p.Asp690Glu Single submitter ⚠
- p.Cys233Ser Single submitter ⚠
- p.Cys537Ser Single submitter ⚠
- p.Gln28Glu Single submitter ⚠
- p.Glu200Ala Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Glu269Ala Single submitter ⚠
- p.Glu352Gln Single submitter ⚠
- p.Glu450Asp Single submitter ⚠
- p.Glu50Ala Single submitter ⚠
- p.Glu72Gln Single submitter ⚠
- p.Glu813Asp Single submitter ⚠
- p.Gly12Glu Single submitter ⚠
- p.Gly485Asp Single submitter ⚠
- p.Gly821Arg Single submitter ⚠
- p.His312Arg Single submitter ⚠
- p.His427Arg Single submitter
- p.His612Arg Single submitter ⚠
- p.His905Tyr Single submitter ⚠
- p.Ile653Val Single submitter ⚠
- p.Ile733Val Single submitter ⚠
- p.Leu311Phe Single submitter ⚠
- p.Leu339Phe Single submitter ⚠
- p.Leu520Met Single submitter ⚠
- p.Leu601Val Single submitter ⚠
- p.Leu803Ser Single submitter ⚠
- p.Leu809Met Single submitter ⚠
- p.Leu879Pro Single submitter ⚠
- p.Lys112Arg Single submitter ⚠
- p.Lys315Arg Single submitter ⚠
- p.Lys529Asn Single submitter ⚠
- p.Met20Val Single submitter ⚠
- p.Met818Ile Single submitter ⚠
- p.Phe248Leu Single submitter ⚠
- p.Phe628Ile Single submitter ⚠
- p.Pro140Arg Single submitter ⚠
- p.Pro26Ser Single submitter ⚠
- p.Pro366Ser Single submitter ⚠
- p.Pro753Ser Single submitter
- p.Pro766Ser Single submitter ⚠
- p.Pro898Leu Single submitter ⚠
- p.Pro909Ser Single submitter ⚠
- p.Pro99Ser Single submitter ⚠
- p.Ser267Ala Single submitter ⚠
- p.Ser282Phe Single submitter ⚠
- p.Ser412Leu Single submitter ⚠
- p.Ser600Thr Single submitter ⚠
- p.Ser765Asn Single submitter ⚠
- p.Ser776Phe Single submitter ⚠
- p.Ser805Leu Single submitter ⚠
- p.Ser85Pro Single submitter ⚠
- p.Ser893Phe Single submitter ⚠
- p.Ser904Gly Single submitter ⚠
- p.Ser92Leu Single submitter ⚠
- p.Thr486Ile Single submitter ⚠
- p.Thr55Ile Single submitter ⚠
- p.Thr903Ala Single submitter ⚠
- p.Trp335Arg Single submitter ⚠
- p.Tyr8Asn Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Val190Met Single submitter ⚠
- p.Val210Leu Single submitter ⚠
- p.Val274Glu Single submitter ⚠
- p.Val853Leu Single submitter ⚠
- p.Val9Leu Single submitter ⚠