CIB1 — 198 ClinVar variants
All ClinVar germline CIB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
10 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 15 Benign · 1 Benign/Likely benign · 88 Likely benign · 79 Uncertain significance
Full CIB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIB1 p.Ala66Thr Uncertain significance Multiple submitters
- CIB1 p.Arg143Gln Uncertain significance Multiple submitters
- CIB1 p.Asn155Asp Uncertain significance Multiple submitters
- CIB1 p.Asn169Ser Uncertain significance Multiple submitters
- CIB1 p.Gly121Arg Uncertain significance Multiple submitters
- CIB1 p.Leu123Phe Uncertain significance Multiple submitters
- CIB1 p.Thr136Met Uncertain significance Multiple submitters
- CIB1 p.Arg143Gly Uncertain significance Single submitter
- CIB1 p.Arg164Lys Uncertain significance Single submitter
- CIB1 p.Arg179Leu Uncertain significance Single submitter
- CIB1 p.Arg43Gln Uncertain significance Single submitter
- CIB1 p.Arg50Gln Uncertain significance Single submitter
- CIB1 p.Asn169Lys Uncertain significance Single submitter
- CIB1 p.Asp118Asn Uncertain significance Single submitter
- CIB1 p.Asp119Gly Uncertain significance Single submitter
- CIB1 p.Gln40Arg Uncertain significance Single submitter
- CIB1 p.Glu11Asp Uncertain significance Single submitter
- CIB1 p.Glu159Val Uncertain significance Single submitter
- CIB1 p.Gly2Arg Uncertain significance Single submitter
- CIB1 p.Gly5Ser Uncertain significance Single submitter
- CIB1 p.Ile189Thr Uncertain significance Single submitter
- CIB1 p.Leu144Phe Uncertain significance Single submitter
- CIB1 p.Leu95Pro Uncertain significance Single submitter
- CIB1 p.Lys65Glu Uncertain significance Single submitter
- CIB1 p.Phe183Leu Uncertain significance Single submitter
- CIB1 p.Ser108Phe Uncertain significance Single submitter
- CIB1 p.Ser47Leu Uncertain significance Single submitter
- CIB1 p.Ser96Arg Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- CIB1 p.Ala184Pro Uncertain significance Multiple submitters
- CIB1 p.Arg113His Uncertain significance Multiple submitters
- CIB1 p.Arg143Trp Uncertain significance Multiple submitters
- CIB1 p.Arg72Gln Uncertain significance Multiple submitters
- CIB1 p.Asn67Ser Uncertain significance Multiple submitters
- CIB1 p.Asp100Gly Uncertain significance Multiple submitters
- CIB1 p.Asp154His Uncertain significance Multiple submitters
- CIB1 p.Asp182Glu Uncertain significance Multiple submitters
- CIB1 p.Glu140Lys Uncertain significance Multiple submitters
- CIB1 p.Val45Met Uncertain significance Multiple submitters
-
CIB1 p.Ala146Thr
Likely benign
Single submitter
epidermodysplasia verruciformis, susceptibility to, 3
- CIB1 p.Ala146Val Uncertain significance Single submitter
- CIB1 p.Ala82Pro Uncertain significance Single submitter
- CIB1 p.Arg130Trp Uncertain significance Single submitter
- CIB1 p.Arg179His Uncertain significance Single submitter
- CIB1 p.Arg33Gln Uncertain significance Single submitter
- CIB1 p.Arg33Trp Uncertain significance Single submitter
- CIB1 p.Arg50Gly Uncertain significance Single submitter
- CIB1 p.Arg50Trp Likely benign Single submitter
- CIB1 p.Arg7Cys Uncertain significance Single submitter
- CIB1 p.Arg7Leu Uncertain significance Single submitter
- CIB1 p.Asp105Gly Uncertain significance Single submitter
- CIB1 p.Asp141Asn Uncertain significance Single submitter
- CIB1 p.Asp154Tyr Uncertain significance Single submitter
- CIB1 p.Asp18Tyr Uncertain significance Single submitter
- CIB1 p.Gln151Arg Uncertain significance Single submitter
- CIB1 p.Glu138Lys Uncertain significance Single submitter
- CIB1 p.Gly139Cys Uncertain significance Single submitter
- CIB1 p.Gly3Asp Uncertain significance Single submitter
- CIB1 p.Ile106Leu Uncertain significance Single submitter
- CIB1 p.Ile153Met Uncertain significance Single submitter
- CIB1 p.Phe55Ser Uncertain significance Single submitter
- CIB1 p.Pro81Ser Uncertain significance Single submitter
- CIB1 p.Ser180Thr Uncertain significance Single submitter
- CIB1 p.Ser44Arg Uncertain significance Single submitter
- CIB1 p.Ser47Trp Uncertain significance Single submitter
- CIB1 p.Thr103Met Uncertain significance Single submitter
- CIB1 p.Thr142Arg Uncertain significance Single submitter
All CIB1 variants
Pathogenic 10
- c.52-2A>G Single submitter epidermodysplasia verruciformis, susceptibility to, 3
- c.87-111C>G Single submitter
- c.87-29_87-20del Single submitter
- p.Ala82fs Single submitter
- p.Arg72Ter Single submitter epidermodysplasia verruciformis, susceptibility to, 3
- p.Asp116_Phe117insTer Single submitter
- p.Glu138fs Single submitter
- p.Gly3fs Single submitter
- p.Ser44fs Single submitter
- p.Thr79fs Single submitter
Likely pathogenic 4
- c.465+1del Single submitter Susceptibility to severe COVID-19
- c.465+1G>A Single submitter epidermodysplasia verruciformis, susceptibility to, 3
- c.87-121G>T Single submitter
- p.Asp154fs Single submitter Susceptibility to severe COVID-19
Conflicting classifications of pathogenicity 1
- c.87-82A>G Single submitter
Benign 15
- c.347-6_347-3del Multiple submitters
- c.466-5C>G Multiple submitters
- p.Ser145= Multiple submitters
- c.195+54C>T Single submitter
- c.196-5_196-3del Single submitter
- c.52-49C>G Single submitter
- c.554+127G>A Single submitter
- c.554+18del Single submitter
- c.555-45G>A Single submitter
- c.87-141C>T Single submitter
- n.121C>T Single submitter
- p.Ala82Thr Single submitter
- p.Gln40Pro Single submitter
- p.Glu148= Single submitter
- p.Thr103= Single submitter
Benign/Likely benign 1
- c.87-84C>T Multiple submitters
Likely benign 88
- c.554+14C>A Multiple submitters
- c.195+14C>T Single submitter
- c.195+15C>T Single submitter
- c.195+20_195+28del Single submitter
- c.195+8C>T Single submitter
- c.196-14G>A Single submitter
- c.196-5C>T Single submitter
- c.346+8C>A Single submitter
- c.346+8C>T Single submitter
- c.347-11C>A Single submitter
- c.347-11C>G Single submitter
- c.347-17C>G Single submitter
- c.347-18C>T Single submitter
- c.347-6C>T Single submitter
- c.347-9G>C Single submitter
- c.465+14C>G Single submitter
- c.465+18C>T Single submitter
- c.465+19C>T Single submitter
- c.465+8G>A Single submitter
- c.466-10C>T Single submitter
- c.466-11C>G Single submitter
- c.466-11C>T Single submitter
- c.466-12_466-11del Single submitter
- c.466-13C>G Single submitter
- c.51+20C>T Single submitter
- c.52-17C>T Single submitter
- c.52-20G>A Single submitter
- c.52-4C>A Single submitter
- c.52-7C>T Single submitter
- c.554+13T>C Single submitter
- c.554+14C>T Single submitter
- c.554+17C>T Single submitter
- c.555-17G>A Single submitter
- c.555-18C>A Single submitter
- c.86+12C>T Single submitter
- c.86+15G>T Single submitter
- c.87-111C>T Single submitter
- c.87-114G>A Single submitter
- c.87-114G>T Single submitter
- c.87-124G>C Single submitter
- c.87-125G>A Single submitter
- c.87-126C>G Single submitter
- c.87-137G>A Single submitter
- c.87-13C>T Single submitter
- c.87-140G>A Single submitter
- c.87-24C>T Single submitter
- c.87-39G>A Single submitter
- c.87-3C>T Single submitter
- c.87-44A>C Single submitter
- c.87-69A>G Single submitter
- p.Ala102= Single submitter
- p.Ala146= Single submitter
- p.Ala146Thr Single submitter epidermodysplasia verruciformis, susceptibility to, 3 ⚠
- p.Arg130= Single submitter
- p.Arg130Gln Single submitter
- p.Arg32= Single submitter
- p.Arg33= Single submitter
- p.Arg43= Single submitter
- p.Arg50Leu Single submitter
- p.Arg50Trp Single submitter ⚠
- p.Asn124= Single submitter
- p.Asp119= Single submitter
- p.Asp120= Single submitter
- p.Asp127= Single submitter
- p.Asp90= Single submitter
- p.Glu15= Single submitter
- p.Gly139= Single submitter
- p.Gly2= Single submitter
- p.Gly3= Single submitter
- p.His109= Single submitter
- p.His175= Single submitter
- p.Ile153= Single submitter
- p.Ile27= Single submitter
- p.Leu13= Single submitter
- p.Leu152= Single submitter
- p.Leu170= Single submitter
- p.Leu28= Single submitter
- p.Leu64= Single submitter
- p.Leu86= Single submitter
- p.Lys188= Single submitter
- p.Phe55= Single submitter
- p.Ser44= Single submitter
- p.Ser47= Single submitter
- p.Thr20= Single submitter
- p.Thr79= Single submitter
- p.Val190= Single submitter
- p.Val45= Single submitter
- c.87-36C>T No assertion criteria CIB1-related disorder
Uncertain significance 79
- p.Ala184Pro Multiple submitters ⚠
- p.Ala66Thr Multiple submitters ⚠
- p.Arg113His Multiple submitters ⚠
- p.Arg143Gln Multiple submitters ⚠
- p.Arg143Trp Multiple submitters ⚠
- p.Arg72Gln Multiple submitters ⚠
- p.Asn155Asp Multiple submitters ⚠
- p.Asn169Ser Multiple submitters ⚠
- p.Asn67Ser Multiple submitters ⚠
- p.Asp100Gly Multiple submitters ⚠
- p.Asp154His Multiple submitters ⚠
- p.Asp182Glu Multiple submitters ⚠
- p.Glu140Lys Multiple submitters ⚠
- p.Gly121Arg Multiple submitters ⚠
- p.Leu123Phe Multiple submitters ⚠
- p.Thr136Met Multiple submitters ⚠
- p.Val45Met Multiple submitters ⚠
- c.195+4C>G Single submitter
- c.466-3C>T Single submitter
- c.87-110G>C Single submitter
- c.87-116G>A Single submitter
- c.87-34C>A Single submitter
- c.87-35G>A Single submitter
- c.87-35G>T Single submitter
- c.87-37T>G Single submitter CIB1-related disorder
- c.87-40C>T Single submitter
- c.87-43_87-32del Single submitter
- c.87-75G>C Single submitter
- p.Ala146Val Single submitter ⚠
- p.Ala82Pro Single submitter ⚠
- p.Arg130Trp Single submitter ⚠
- p.Arg143Gly Single submitter ⚠
- p.Arg164Lys Single submitter ⚠
- p.Arg179His Single submitter ⚠
- p.Arg179Leu Single submitter ⚠
- p.Arg33Gln Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Arg43Gln Single submitter ⚠
- p.Arg50Gln Single submitter ⚠
- p.Arg50Gly Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Arg7Leu Single submitter ⚠
- p.Asn155del Single submitter
- p.Asn169Lys Single submitter ⚠
- p.Asp105Gly Single submitter ⚠
- p.Asp118Asn Single submitter ⚠
- p.Asp119Gly Single submitter ⚠
- p.Asp141Asn Single submitter ⚠
- p.Asp154Tyr Single submitter ⚠
- p.Asp18Tyr Single submitter ⚠
- p.Gln151Arg Single submitter ⚠
- p.Gln40Arg Single submitter ⚠
- p.Glu11Asp Single submitter ⚠
- p.Glu138Lys Single submitter ⚠
- p.Glu159Val Single submitter ⚠
- p.Glu172Ter Single submitter
- p.Gly139Cys Single submitter ⚠
- p.Gly2Arg Single submitter ⚠
- p.Gly3Asp Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Ile106Leu Single submitter ⚠
- p.Ile153Met Single submitter ⚠
- p.Ile189Thr Single submitter ⚠
- p.Leu144Phe Single submitter ⚠
- p.Leu95Pro Single submitter ⚠
- p.Lys65Glu Single submitter ⚠
- p.Met1Leu Single submitter
- p.Phe183Leu Single submitter ⚠
- p.Phe55Ser Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Ser108Phe Single submitter ⚠
- p.Ser180Thr Single submitter ⚠
- p.Ser44Arg Single submitter ⚠
- p.Ser47Leu Single submitter ⚠
- p.Ser47Trp Single submitter ⚠
- p.Ser96Arg Single submitter ⚠
- p.Thr103Met Single submitter ⚠
- p.Thr142Arg Single submitter ⚠
- p.Val76del Single submitter