RTF1 — 38 ClinVar variants
All ClinVar germline RTF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Likely benign · 37 Uncertain significance
Full RTF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RTF1 p.Ala90Gly Uncertain significance Single submitter
- RTF1 p.Arg267Trp Uncertain significance Single submitter
- RTF1 p.Arg330Cys Uncertain significance Single submitter
- RTF1 p.Arg333Gln Uncertain significance Single submitter
- RTF1 p.Arg361Gln Uncertain significance Single submitter
- RTF1 p.Arg501Lys Uncertain significance Single submitter
- RTF1 p.Arg568Pro Uncertain significance Single submitter
- RTF1 p.Asp643Gly Uncertain significance Single submitter
- RTF1 p.Gln534Lys Uncertain significance Single submitter
- RTF1 p.Gln590Arg Uncertain significance Single submitter
- RTF1 p.Gln671His Uncertain significance Single submitter
- RTF1 p.Glu190Asp Uncertain significance Single submitter
- RTF1 p.Glu451Gly Uncertain significance Single submitter
- RTF1 p.His179Tyr Uncertain significance Single submitter
- RTF1 p.His584Tyr Uncertain significance Single submitter
- RTF1 p.Ile255Leu Uncertain significance Single submitter
- RTF1 p.Ile472Leu Uncertain significance Single submitter
- RTF1 p.Ile495Thr Uncertain significance Single submitter
- RTF1 p.Leu654Phe Uncertain significance Single submitter
- RTF1 p.Met126Thr Uncertain significance Single submitter
- RTF1 p.Met126Val Uncertain significance Single submitter
- RTF1 p.Pro630Leu Uncertain significance Single submitter
- RTF1 p.Pro630Ser Uncertain significance Single submitter
- RTF1 p.Ser331Leu Uncertain significance Single submitter
- RTF1 p.Ser648Phe Uncertain significance Single submitter
- RTF1 p.Ser648Thr Uncertain significance Single submitter
- RTF1 p.Ser652Gly Uncertain significance Single submitter
- RTF1 p.Thr383Ala Uncertain significance Single submitter
- RTF1 p.Thr468Ser Uncertain significance Single submitter
- RTF1 p.Val402Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All RTF1 variants
Likely benign 1
- p.Asn432Ser Single submitter
Uncertain significance 37
- p.Ala90Gly Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg267Trp Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg330Cys Single submitter ⚠
- p.Arg333Gln Single submitter ⚠
- p.Arg361Gln Single submitter ⚠
- p.Arg501Lys Single submitter ⚠
- p.Arg568Pro Single submitter ⚠
- p.Asp643Gly Single submitter ⚠
- p.Gln534Lys Single submitter ⚠
- p.Gln590Arg Single submitter ⚠
- p.Gln671His Single submitter ⚠
- p.Glu190Asp Single submitter ⚠
- p.Glu404Gln Single submitter
- p.Glu451Gly Single submitter ⚠
- p.Glu81fs Single submitter
- p.His179Tyr Single submitter ⚠
- p.His584Tyr Single submitter ⚠
- p.Ile255Leu Single submitter ⚠
- p.Ile391Val Single submitter ⚠
- p.Ile472Leu Single submitter ⚠
- p.Ile495Thr Single submitter ⚠
- p.Leu654Phe Single submitter ⚠
- p.Met126Thr Single submitter ⚠
- p.Met126Val Single submitter ⚠
- p.Met375Val Single submitter ⚠
- p.Pro630Leu Single submitter ⚠
- p.Pro630Ser Single submitter ⚠
- p.Ser108Cys Single submitter ⚠
- p.Ser331Leu Single submitter ⚠
- p.Ser648Phe Single submitter ⚠
- p.Ser648Thr Single submitter ⚠
- p.Ser652Gly Single submitter ⚠
- p.Thr383Ala Single submitter ⚠
- p.Thr468Ser Single submitter ⚠
- p.Val402Ile Single submitter ⚠