RTCB — 61 ClinVar variants
All ClinVar germline RTCB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
2 Benign · 4 Likely benign · 55 Uncertain significance
Full RTCB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RTCB p.Ala101Thr Uncertain significance Single submitter
- RTCB p.Ala211Val Uncertain significance Single submitter
- RTCB p.Ala242Ser Uncertain significance Single submitter
- RTCB p.Ala294Val Uncertain significance Single submitter
- RTCB p.Ala333Ser Uncertain significance Single submitter
- RTCB p.Ala430Val Uncertain significance Single submitter
- RTCB p.Arg210Lys Uncertain significance Single submitter
- RTCB p.Arg460His Uncertain significance Single submitter
- RTCB p.Arg55Gly Uncertain significance Single submitter
- RTCB p.Asn18Ser Uncertain significance Single submitter
- RTCB p.Asn205Ser Uncertain significance Single submitter
- RTCB p.Asn39Ser Uncertain significance Single submitter
- RTCB p.Asn71Ser Uncertain significance Single submitter
- RTCB p.Gln360Arg Uncertain significance Single submitter
- RTCB p.Gly197Arg Uncertain significance Single submitter
- RTCB p.Gly252Arg Uncertain significance Single submitter
- RTCB p.Gly252Glu Uncertain significance Single submitter
- RTCB p.Gly57Asp Uncertain significance Single submitter
- RTCB p.Gly58Asp Uncertain significance Single submitter
- RTCB p.Ile287Val Uncertain significance Single submitter
- RTCB p.Ile490Met Uncertain significance Single submitter
- RTCB p.Ile503Asn Uncertain significance Single submitter
- RTCB p.Leu126Phe Uncertain significance Single submitter
- RTCB p.Leu345Ile Uncertain significance Single submitter
- RTCB p.Leu412Pro Uncertain significance Single submitter
- RTCB p.Lys212Glu Uncertain significance Single submitter
- RTCB p.Lys465Arg Uncertain significance Single submitter
- RTCB p.Lys496Glu Uncertain significance Single submitter
- RTCB p.Met163Val Uncertain significance Single submitter
- RTCB p.Met310Ile Uncertain significance Single submitter
- RTCB p.Met310Val Uncertain significance Single submitter
- RTCB p.Met455Thr Uncertain significance Single submitter
- RTCB p.Ser300Phe Uncertain significance Single submitter
- RTCB p.Ser439Ala Uncertain significance Single submitter
- RTCB p.Thr378Ile Uncertain significance Single submitter
- RTCB p.Thr395Ala Uncertain significance Single submitter
- RTCB p.Thr479Ala Uncertain significance Single submitter
- RTCB p.Tyr241Cys Uncertain significance Single submitter
- RTCB p.Val136Ile Uncertain significance Single submitter
- RTCB p.Val372Ile Uncertain significance Single submitter
- RTCB p.Val72Ala Uncertain significance Single submitter
- RTCB p.Val88Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- RTCB p.Ala296Thr Uncertain significance Single submitter
- RTCB p.Ala333Thr Uncertain significance Single submitter
- RTCB p.Arg297Gln Uncertain significance Single submitter
- RTCB p.Arg368Trp Uncertain significance Single submitter
- RTCB p.Asn6Ile Uncertain significance Single submitter
- RTCB p.Asn98Ser Uncertain significance Single submitter
- RTCB p.Glu191Gln Uncertain significance Single submitter
- RTCB p.Ile78Val Uncertain significance Single submitter
- RTCB p.Met199Ile Uncertain significance Single submitter
- RTCB p.Met66Thr Uncertain significance Single submitter
- RTCB p.Phe326Leu Uncertain significance Single submitter
- RTCB p.Pro107Ser Likely benign Single submitter
- RTCB p.Val139Ala Uncertain significance Single submitter
- RTCB p.Val390Gly Uncertain significance Single submitter
All RTCB variants
Likely benign 4
- p.Asn16Ser Single submitter
- p.Ile248= Single submitter
- p.Leu219= Single submitter
- p.Pro107Ser Single submitter ⚠
Uncertain significance 55
- p.Ala101Thr Single submitter ⚠
- p.Ala211Val Single submitter ⚠
- p.Ala242Ser Single submitter ⚠
- p.Ala294Val Single submitter ⚠
- p.Ala296Thr Single submitter ⚠
- p.Ala333Ser Single submitter ⚠
- p.Ala333Thr Single submitter ⚠
- p.Ala430Val Single submitter ⚠
- p.Arg210Lys Single submitter ⚠
- p.Arg297Gln Single submitter ⚠
- p.Arg368Trp Single submitter ⚠
- p.Arg460His Single submitter ⚠
- p.Arg55Gly Single submitter ⚠
- p.Asn18Ser Single submitter ⚠
- p.Asn205Ser Single submitter ⚠
- p.Asn39Ser Single submitter ⚠
- p.Asn6Ile Single submitter ⚠
- p.Asn71Ser Single submitter ⚠
- p.Asn98Ser Single submitter ⚠
- p.Gln360Arg Single submitter ⚠
- p.Glu191Gln Single submitter ⚠
- p.Gly197Arg Single submitter ⚠
- p.Gly252Arg Single submitter ⚠
- p.Gly252Glu Single submitter ⚠
- p.Gly57Asp Single submitter ⚠
- p.Gly58Asp Single submitter ⚠
- p.Ile287Val Single submitter ⚠
- p.Ile490Met Single submitter ⚠
- p.Ile503Asn Single submitter ⚠
- p.Ile78Val Single submitter ⚠
- p.Leu126Phe Single submitter ⚠
- p.Leu345Ile Single submitter ⚠
- p.Leu412Pro Single submitter ⚠
- p.Lys212Glu Single submitter ⚠
- p.Lys465Arg Single submitter ⚠
- p.Lys496Glu Single submitter ⚠
- p.Met163Val Single submitter ⚠
- p.Met199Ile Single submitter ⚠
- p.Met310Ile Single submitter ⚠
- p.Met310Val Single submitter ⚠
- p.Met455Thr Single submitter ⚠
- p.Met66Thr Single submitter ⚠
- p.Phe326Leu Single submitter ⚠
- p.Ser300Phe Single submitter ⚠
- p.Ser439Ala Single submitter ⚠
- p.Thr378Ile Single submitter ⚠
- p.Thr395Ala Single submitter ⚠
- p.Thr479Ala Single submitter ⚠
- p.Tyr241Cys Single submitter ⚠
- p.Val136Ile Single submitter ⚠
- p.Val139Ala Single submitter ⚠
- p.Val372Ile Single submitter ⚠
- p.Val390Gly Single submitter ⚠
- p.Val72Ala Single submitter ⚠
- p.Val88Ile Single submitter ⚠