CT47B1 — 108 ClinVar variants
All ClinVar germline CT47B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
1 Conflicting · 8 Likely benign · 99 Uncertain significance
Full CT47B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
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 94
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CT47B1 p.Ala104Pro Uncertain significance Single submitter
- CT47B1 p.Ala109Ser Uncertain significance Single submitter
- CT47B1 p.Ala144Gly Uncertain significance Single submitter
- CT47B1 p.Ala144Val Uncertain significance Single submitter
- CT47B1 p.Ala157Pro Uncertain significance Single submitter
- CT47B1 p.Ala157Ser Uncertain significance Single submitter
- CT47B1 p.Ala16Thr Uncertain significance Single submitter
- CT47B1 p.Ala16Val Uncertain significance Single submitter
- CT47B1 p.Ala193Ser Uncertain significance Single submitter
- CT47B1 p.Ala199Ser Uncertain significance Single submitter
- CT47B1 p.Ala200Ser Uncertain significance Single submitter
- CT47B1 p.Ala200Thr Uncertain significance Single submitter
- CT47B1 p.Ala219Thr Uncertain significance Single submitter
- CT47B1 p.Ala219Val Uncertain significance Single submitter
- CT47B1 p.Ala232Ser Uncertain significance Single submitter
- CT47B1 p.Ala232Thr Uncertain significance Single submitter
- CT47B1 p.Ala245Ser Uncertain significance Single submitter
- CT47B1 p.Ala246Ser Uncertain significance Single submitter
- CT47B1 p.Ala246Thr Uncertain significance Single submitter
- CT47B1 p.Ala254Val Uncertain significance Single submitter
- CT47B1 p.Ala3Thr Uncertain significance Single submitter
- CT47B1 p.Ala49Thr Uncertain significance Single submitter
- CT47B1 p.Ala81Thr Uncertain significance Single submitter
- CT47B1 p.Ala90Ser Uncertain significance Single submitter
- CT47B1 p.Arg114Gln Uncertain significance Single submitter
- CT47B1 p.Arg114Trp Uncertain significance Single submitter
- CT47B1 p.Arg133Cys Uncertain significance Single submitter
- CT47B1 p.Arg133Leu Uncertain significance Single submitter
- CT47B1 p.Arg133Ser Uncertain significance Single submitter
- CT47B1 p.Arg134His Uncertain significance Single submitter
- CT47B1 p.Arg150His Uncertain significance Single submitter
- CT47B1 p.Asn105Thr Uncertain significance Single submitter
- CT47B1 p.Asn138Asp Uncertain significance Single submitter
- CT47B1 p.Asn161Ile Uncertain significance Single submitter
- CT47B1 p.Asn161Lys Uncertain significance Single submitter
- CT47B1 p.Asn32His Uncertain significance Single submitter
- CT47B1 p.Asp107Glu Uncertain significance Single submitter
- CT47B1 p.Asp13Tyr Uncertain significance Single submitter
- CT47B1 p.Asp210Ala Uncertain significance Single submitter
- CT47B1 p.Asp41Asn Uncertain significance Single submitter
- CT47B1 p.Asp86Glu Uncertain significance Single submitter
- CT47B1 p.Glu102Gln Uncertain significance Single submitter
- CT47B1 p.Glu183Asp Uncertain significance Single submitter
- CT47B1 p.Glu185Asp Uncertain significance Single submitter
- CT47B1 p.Glu204Gln Uncertain significance Single submitter
- CT47B1 p.Glu279Lys Uncertain significance Single submitter
- CT47B1 p.Glu82Asp Uncertain significance Single submitter
- CT47B1 p.Glu82Lys Uncertain significance Single submitter
- CT47B1 p.Gly119Val Uncertain significance Single submitter
- CT47B1 p.Gly121Ala Uncertain significance Single submitter
- CT47B1 p.Gly121Arg Uncertain significance Single submitter
- CT47B1 p.Gly121Asp Uncertain significance Single submitter
- CT47B1 p.Gly12Ala Uncertain significance Single submitter
- CT47B1 p.Gly12Trp Uncertain significance Single submitter
- CT47B1 p.Gly154Arg Uncertain significance Single submitter
- CT47B1 p.Gly188Arg Uncertain significance Single submitter
- CT47B1 p.Gly188Ser Uncertain significance Single submitter
- CT47B1 p.Gly29Arg Uncertain significance Single submitter
- CT47B1 p.Gly31Asp Uncertain significance Single submitter
- CT47B1 p.Gly56Arg Uncertain significance Single submitter
- CT47B1 p.Gly60Ala Uncertain significance Single submitter
- CT47B1 p.Gly66Asp Uncertain significance Single submitter
- CT47B1 p.His137Asp Uncertain significance Single submitter
- CT47B1 p.His140Tyr Uncertain significance Single submitter
- CT47B1 p.His147Tyr Uncertain significance Single submitter
- CT47B1 p.His156Gln Uncertain significance Single submitter
- CT47B1 p.His8Gln Uncertain significance Single submitter
- CT47B1 p.Ile143Arg Uncertain significance Single submitter
- CT47B1 p.Leu108Phe Uncertain significance Single submitter
- CT47B1 p.Leu132Val Uncertain significance Single submitter
- CT47B1 p.Leu162Val Uncertain significance Single submitter
- CT47B1 p.Lys287Asn Uncertain significance Single submitter
- CT47B1 p.Met45Thr Uncertain significance Single submitter
- CT47B1 p.Pro155Arg Uncertain significance Single submitter
- CT47B1 p.Pro155Ser Uncertain significance Single submitter
- CT47B1 p.Pro167His Uncertain significance Single submitter
- CT47B1 p.Pro208Leu Uncertain significance Single submitter
- CT47B1 p.Pro227Thr Uncertain significance Single submitter
- CT47B1 p.Pro244Ser Uncertain significance Single submitter
- CT47B1 p.Pro9Leu Uncertain significance Single submitter
- CT47B1 p.Ser296Tyr Uncertain significance Single submitter
- CT47B1 p.Ser43Arg Uncertain significance Single submitter
- CT47B1 p.Ser43Thr Uncertain significance Single submitter
- CT47B1 p.Ser85Leu Uncertain significance Single submitter
- CT47B1 p.Thr241Ala Uncertain significance Single submitter
- CT47B1 p.Thr91Met Uncertain significance Single submitter
- CT47B1 p.Tyr126Asp Uncertain significance Single submitter
- CT47B1 p.Tyr136Cys Uncertain significance Single submitter
- CT47B1 p.Tyr136Ser Uncertain significance Single submitter
- CT47B1 p.Val123Glu Uncertain significance Single submitter
- CT47B1 p.Val123Leu Uncertain significance Single submitter
- CT47B1 p.Val123Met Uncertain significance Single submitter
- CT47B1 p.Val159Leu Uncertain significance Single submitter
- CT47B1 p.Val207Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CT47B1 p.Glu233Gln Uncertain significance Single submitter
- CT47B1 p.Gly298Arg Conflicting Single submitter
- CT47B1 p.Gly79Trp Uncertain significance Single submitter
- CT47B1 p.Leu132Arg Uncertain significance Single submitter
- CT47B1 p.Met152Ile Uncertain significance Single submitter
- CT47B1 p.Phe124Leu Uncertain significance Single submitter
All CT47B1 variants
Conflicting classifications of pathogenicity 1
- p.Gly298Arg Single submitter ⚠
Likely benign 8
- p.Ala117= Single submitter
- p.Ala144Glu Single submitter
- p.Gln142His Single submitter
- p.Gln142Leu Single submitter
- p.Glu266Lys Single submitter
- p.Gly88Arg Single submitter
- p.Ser172= Single submitter
- p.Val289Ala Single submitter
Uncertain significance 99
- p.Ala104Pro Single submitter ⚠
- p.Ala109Ser Single submitter ⚠
- p.Ala144Gly Single submitter ⚠
- p.Ala144Val Single submitter ⚠
- p.Ala157Pro Single submitter ⚠
- p.Ala157Ser Single submitter ⚠
- p.Ala16Thr Single submitter ⚠
- p.Ala16Val Single submitter ⚠
- p.Ala193Ser Single submitter ⚠
- p.Ala199Ser Single submitter ⚠
- p.Ala200Ser Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala219Thr Single submitter ⚠
- p.Ala219Val Single submitter ⚠
- p.Ala232Ser Single submitter ⚠
- p.Ala232Thr Single submitter ⚠
- p.Ala245Ser Single submitter ⚠
- p.Ala246Ser Single submitter ⚠
- p.Ala246Thr Single submitter ⚠
- p.Ala254Val Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala49Thr Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Ala90Ser Single submitter ⚠
- p.Arg114Gln Single submitter ⚠
- p.Arg114Trp Single submitter ⚠
- p.Arg133Cys Single submitter ⚠
- p.Arg133Leu Single submitter ⚠
- p.Arg133Ser Single submitter ⚠
- p.Arg134His Single submitter ⚠
- p.Arg150His Single submitter ⚠
- p.Asn105Thr Single submitter ⚠
- p.Asn138Asp Single submitter ⚠
- p.Asn161Ile Single submitter ⚠
- p.Asn161Lys Single submitter ⚠
- p.Asn32His Single submitter ⚠
- p.Asp107Glu Single submitter ⚠
- p.Asp13Tyr Single submitter ⚠
- p.Asp210Ala Single submitter ⚠
- p.Asp41Asn Single submitter ⚠
- p.Asp86Glu Single submitter ⚠
- p.Glu102Gln Single submitter ⚠
- p.Glu183Asp Single submitter ⚠
- p.Glu185Asp Single submitter ⚠
- p.Glu204Gln Single submitter ⚠
- p.Glu233Gln Single submitter ⚠
- p.Glu279Lys Single submitter ⚠
- p.Glu82Asp Single submitter ⚠
- p.Glu82Lys Single submitter ⚠
- p.Gly119Val Single submitter ⚠
- p.Gly121Ala Single submitter ⚠
- p.Gly121Arg Single submitter ⚠
- p.Gly121Asp Single submitter ⚠
- p.Gly12Ala Single submitter ⚠
- p.Gly12Trp Single submitter ⚠
- p.Gly154Arg Single submitter ⚠
- p.Gly188Arg Single submitter ⚠
- p.Gly188Ser Single submitter ⚠
- p.Gly29Arg Single submitter ⚠
- p.Gly31Asp Single submitter ⚠
- p.Gly56Arg Single submitter ⚠
- p.Gly60Ala Single submitter ⚠
- p.Gly66Asp Single submitter ⚠
- p.Gly79Trp Single submitter ⚠
- p.His137Asp Single submitter ⚠
- p.His140Tyr Single submitter ⚠
- p.His147Tyr Single submitter ⚠
- p.His156Gln Single submitter ⚠
- p.His8Gln Single submitter ⚠
- p.Ile143Arg Single submitter ⚠
- p.Leu108Phe Single submitter ⚠
- p.Leu132Arg Single submitter ⚠
- p.Leu132Val Single submitter ⚠
- p.Leu162Val Single submitter ⚠
- p.Lys287Asn Single submitter ⚠
- p.Met152Ile Single submitter ⚠
- p.Met45Thr Single submitter ⚠
- p.Phe124Leu Single submitter ⚠
- p.Pro155Arg Single submitter ⚠
- p.Pro155Ser Single submitter ⚠
- p.Pro167His Single submitter ⚠
- p.Pro208Leu Single submitter ⚠
- p.Pro227Thr Single submitter ⚠
- p.Pro244Ser Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser296Tyr Single submitter ⚠
- p.Ser43Arg Single submitter ⚠
- p.Ser43Thr Single submitter ⚠
- p.Ser85Leu Single submitter ⚠
- p.Thr241Ala Single submitter ⚠
- p.Thr91Met Single submitter ⚠
- p.Tyr126Asp Single submitter ⚠
- p.Tyr136Cys Single submitter ⚠
- p.Tyr136Ser Single submitter ⚠
- p.Val123Glu Single submitter ⚠
- p.Val123Leu Single submitter ⚠
- p.Val123Met Single submitter ⚠
- p.Val159Leu Single submitter ⚠
- p.Val207Leu Single submitter ⚠