RFTN1 — 82 ClinVar variants
All ClinVar germline RFTN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
9 Likely benign · 73 Uncertain significance
Full RFTN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RFTN1 p.Ala198Thr Uncertain significance Single submitter
- RFTN1 p.Ala316Thr Uncertain significance Single submitter
- RFTN1 p.Ala335Thr Uncertain significance Single submitter
- RFTN1 p.Ala398Val Uncertain significance Single submitter
- RFTN1 p.Ala488Thr Uncertain significance Single submitter
- RFTN1 p.Arg11His Uncertain significance Single submitter
- RFTN1 p.Arg15Trp Uncertain significance Single submitter
- RFTN1 p.Arg293Leu Uncertain significance Single submitter
- RFTN1 p.Arg451Lys Uncertain significance Single submitter
- RFTN1 p.Arg63Leu Uncertain significance Single submitter
- RFTN1 p.Asn264Lys Uncertain significance Single submitter
- RFTN1 p.Asn456Asp Uncertain significance Single submitter
- RFTN1 p.Asp259Gly Uncertain significance Single submitter
- RFTN1 p.Asp371Asn Uncertain significance Single submitter
- RFTN1 p.Glu278Asp Uncertain significance Single submitter
- RFTN1 p.Glu278Lys Uncertain significance Single submitter
- RFTN1 p.Glu452Gln Uncertain significance Single submitter
- RFTN1 p.Glu452Gly Uncertain significance Single submitter
- RFTN1 p.Glu506Gly Uncertain significance Single submitter
- RFTN1 p.Glu577Gly Uncertain significance Single submitter
- RFTN1 p.Glu71Asp Uncertain significance Single submitter
- RFTN1 p.Gly208Arg Uncertain significance Single submitter
- RFTN1 p.Gly242Arg Uncertain significance Single submitter
- RFTN1 p.Gly246Arg Uncertain significance Single submitter
- RFTN1 p.Gly253Arg Uncertain significance Single submitter
- RFTN1 p.Gly308Ser Uncertain significance Single submitter
- RFTN1 p.Gly352Glu Uncertain significance Single submitter
- RFTN1 p.Gly464Ser Uncertain significance Single submitter
- RFTN1 p.Gly4Arg Uncertain significance Single submitter
- RFTN1 p.Gly517Arg Uncertain significance Single submitter
- RFTN1 p.His325Arg Uncertain significance Single submitter
- RFTN1 p.His99Leu Uncertain significance Single submitter
- RFTN1 p.Ile426Thr Uncertain significance Single submitter
- RFTN1 p.Leu132Phe Uncertain significance Single submitter
- RFTN1 p.Lys463Asn Uncertain significance Single submitter
- RFTN1 p.Lys479Glu Uncertain significance Single submitter
- RFTN1 p.Lys487Glu Uncertain significance Single submitter
- RFTN1 p.Met508Ile Uncertain significance Single submitter
- RFTN1 p.Phe428Leu Uncertain significance Single submitter
- RFTN1 p.Pro177Leu Uncertain significance Single submitter
- RFTN1 p.Pro205Leu Uncertain significance Single submitter
- RFTN1 p.Pro232Ala Uncertain significance Single submitter
- RFTN1 p.Pro522Ser Uncertain significance Single submitter
- RFTN1 p.Pro88Ser Uncertain significance Single submitter
- RFTN1 p.Ser238Arg Uncertain significance Single submitter
- RFTN1 p.Ser255Thr Uncertain significance Single submitter
- RFTN1 p.Ser263Asn Uncertain significance Single submitter
- RFTN1 p.Ser396Leu Uncertain significance Single submitter
- RFTN1 p.Ser420Gly Uncertain significance Single submitter
- RFTN1 p.Ser486Tyr Uncertain significance Single submitter
- RFTN1 p.Ser505Phe Uncertain significance Single submitter
- RFTN1 p.Ser544Gly Uncertain significance Single submitter
- RFTN1 p.Ser544Ile Uncertain significance Single submitter
- RFTN1 p.Ser54Thr Uncertain significance Single submitter
- RFTN1 p.Thr574Met Uncertain significance Single submitter
- RFTN1 p.Val336Asp Uncertain significance Single submitter
- RFTN1 p.Val391Met Uncertain significance Single submitter
- RFTN1 p.Val407Leu Uncertain significance Single submitter
- RFTN1 p.Val412Ile Uncertain significance Single submitter
- RFTN1 p.Val531Met Uncertain significance Single submitter
- RFTN1 p.Val86Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- RFTN1 p.Ala80Thr Uncertain significance Single submitter
- RFTN1 p.Arg293Trp Uncertain significance Single submitter
- RFTN1 p.Arg39Cys Uncertain significance Single submitter
- RFTN1 p.Gln27Lys Uncertain significance Single submitter
- RFTN1 p.Glu37Ala Uncertain significance Single submitter
- RFTN1 p.Ile19Val Uncertain significance Single submitter
- RFTN1 p.Leu8Ser Uncertain significance Single submitter
- RFTN1 p.Lys14Asn Uncertain significance Single submitter
- RFTN1 p.Pro16Ser Uncertain significance Single submitter
- RFTN1 p.Ser78Leu Uncertain significance Single submitter
All RFTN1 variants
Likely benign 9
- p.Gly313Ser Single submitter
- p.Leu233= Single submitter
- p.Pro261Leu Single submitter
- p.Pro411= Single submitter
- p.Pro522= Single submitter
- p.Ser420Asn Single submitter
- p.Thr115Ser Single submitter
- p.Val413Ile Single submitter
- p.Val575Ala Single submitter
Uncertain significance 73
- p.Ala198Thr Single submitter ⚠
- p.Ala316Thr Single submitter ⚠
- p.Ala335Thr Single submitter ⚠
- p.Ala398Val Single submitter ⚠
- p.Ala488Thr Single submitter ⚠
- p.Ala80Thr Single submitter ⚠
- p.Arg11His Single submitter ⚠
- p.Arg15Trp Single submitter ⚠
- p.Arg293Leu Single submitter ⚠
- p.Arg293Trp Single submitter ⚠
- p.Arg39Cys Single submitter ⚠
- p.Arg451Lys Single submitter ⚠
- p.Arg63Leu Single submitter ⚠
- p.Asn264Lys Single submitter ⚠
- p.Asn456Asp Single submitter ⚠
- p.Asp259Gly Single submitter ⚠
- p.Asp371Asn Single submitter ⚠
- p.Gln27Lys Single submitter ⚠
- p.Glu278Asp Single submitter ⚠
- p.Glu278Lys Single submitter ⚠
- p.Glu37Ala Single submitter ⚠
- p.Glu37Asp Single submitter
- p.Glu452Gln Single submitter ⚠
- p.Glu452Gly Single submitter ⚠
- p.Glu506Gly Single submitter ⚠
- p.Glu577Gly Single submitter ⚠
- p.Glu71Asp Single submitter ⚠
- p.Gly208Arg Single submitter ⚠
- p.Gly242Arg Single submitter ⚠
- p.Gly246Arg Single submitter ⚠
- p.Gly253Arg Single submitter ⚠
- p.Gly308Ser Single submitter ⚠
- p.Gly352Glu Single submitter ⚠
- p.Gly464Ser Single submitter ⚠
- p.Gly4Arg Single submitter ⚠
- p.Gly517Arg Single submitter ⚠
- p.His325Arg Single submitter ⚠
- p.His99Leu Single submitter ⚠
- p.Ile19Val Single submitter ⚠
- p.Ile426Thr Single submitter ⚠
- p.Leu132Phe Single submitter ⚠
- p.Leu8Ser Single submitter ⚠
- p.Lys14Asn Single submitter ⚠
- p.Lys463Asn Single submitter ⚠
- p.Lys479Glu Single submitter ⚠
- p.Lys487Glu Single submitter ⚠
- p.Met508Ile Single submitter ⚠
- p.Phe428Leu Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Pro177Leu Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro232Ala Single submitter ⚠
- p.Pro301His Single submitter
- p.Pro522Ser Single submitter ⚠
- p.Pro88Ser Single submitter ⚠
- p.Ser238Arg Single submitter ⚠
- p.Ser255Thr Single submitter ⚠
- p.Ser263Asn Single submitter ⚠
- p.Ser396Leu Single submitter ⚠
- p.Ser420Gly Single submitter ⚠
- p.Ser486Tyr Single submitter ⚠
- p.Ser505Phe Single submitter ⚠
- p.Ser544Gly Single submitter ⚠
- p.Ser544Ile Single submitter ⚠
- p.Ser54Thr Single submitter ⚠
- p.Ser78Leu Single submitter ⚠
- p.Thr574Met Single submitter ⚠
- p.Val336Asp Single submitter ⚠
- p.Val391Met Single submitter ⚠
- p.Val407Leu Single submitter ⚠
- p.Val412Ile Single submitter ⚠
- p.Val531Met Single submitter ⚠
- p.Val86Leu Single submitter ⚠