BCO1 — 168 ClinVar variants
All ClinVar germline BCO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
2 Conflicting · 31 Benign · 1 Benign/Likely benign · 34 Likely benign · 100 Uncertain significance
Full BCO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 70
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BCO1 p.Thr170Met
Uncertain significance
Multiple submitters
hereditary hypercarotenemia and vitamin A deficiency
- BCO1 p.Ala178Gly Uncertain significance Single submitter
- BCO1 p.Ala178Val Uncertain significance Single submitter
- BCO1 p.Ala338Val Uncertain significance Single submitter
- BCO1 p.Ala538Val Uncertain significance Single submitter
- BCO1 p.Arg161His Uncertain significance Single submitter
- BCO1 p.Arg17Ser Uncertain significance Single submitter
- BCO1 p.Arg228His Uncertain significance Single submitter
- BCO1 p.Arg267Lys Uncertain significance Single submitter
- BCO1 p.Arg408Gln Uncertain significance Single submitter
- BCO1 p.Arg502Cys Uncertain significance Single submitter
- BCO1 p.Arg75Lys Uncertain significance Single submitter
-
BCO1 p.Asn142Ser
Uncertain significance
Single submitter
hereditary hypercarotenemia and vitamin A deficiency
- BCO1 p.Asn341Lys Uncertain significance Single submitter
- BCO1 p.Asn86Lys Uncertain significance Single submitter
- BCO1 p.Asp256Asn Uncertain significance Single submitter
- BCO1 p.Asp452Gly Uncertain significance Single submitter
- BCO1 p.Asp468Gly Uncertain significance Single submitter
-
BCO1 p.Asp493Val
Uncertain significance
Single submitter
hereditary hypercarotenemia and vitamin A deficiency
- BCO1 p.Asp52Asn Uncertain significance Single submitter
- BCO1 p.Asp540Ala Uncertain significance Single submitter
- BCO1 p.Asp77Tyr Uncertain significance Single submitter
- BCO1 p.Cys102Tyr Uncertain significance Single submitter
-
BCO1 p.Cys273Phe
Uncertain significance
Single submitter
hereditary hypercarotenemia and vitamin A deficiency
- BCO1 p.Gln150His Uncertain significance Single submitter
- BCO1 p.Gln289Glu Uncertain significance Single submitter
- BCO1 p.Gln534His Uncertain significance Single submitter
- BCO1 p.Glu133Lys Uncertain significance Single submitter
- BCO1 p.Glu190Lys Uncertain significance Single submitter
- BCO1 p.Glu327Lys Uncertain significance Single submitter
- BCO1 p.Gly212Arg Uncertain significance Single submitter
- BCO1 p.Gly36Arg Uncertain significance Single submitter
- BCO1 p.Gly543Trp Uncertain significance Single submitter
- BCO1 p.His277Tyr Uncertain significance Single submitter
- BCO1 p.His542Pro Uncertain significance Single submitter
- BCO1 p.Ile284Val Uncertain significance Single submitter
- BCO1 p.Ile287Met Uncertain significance Single submitter
- BCO1 p.Ile324Val Uncertain significance Single submitter
- BCO1 p.Leu231Val Uncertain significance Single submitter
- BCO1 p.Leu400Val Uncertain significance Single submitter
- BCO1 p.Leu516Ile Uncertain significance Single submitter
- BCO1 p.Lys157Thr Uncertain significance Single submitter
- BCO1 p.Lys209Glu Uncertain significance Single submitter
- BCO1 p.Lys526Glu Uncertain significance Single submitter
- BCO1 p.Phe359Cys Uncertain significance Single submitter
- BCO1 p.Pro15Ala Uncertain significance Single submitter
- BCO1 p.Pro206Ser Uncertain significance Single submitter
- BCO1 p.Pro397Leu Uncertain significance Single submitter
- BCO1 p.Pro458Ser Uncertain significance Single submitter
- BCO1 p.Pro458Thr Uncertain significance Single submitter
- BCO1 p.Pro99Gln Uncertain significance Single submitter
- BCO1 p.Ser229Thr Uncertain significance Single submitter
- BCO1 p.Ser444Thr Uncertain significance Single submitter
- BCO1 p.Ser76Arg Uncertain significance Single submitter
- BCO1 p.Thr138Ala Uncertain significance Single submitter
- BCO1 p.Thr31Asn Uncertain significance Single submitter
- BCO1 p.Thr384Met Uncertain significance Single submitter
- BCO1 p.Tyr236Asp Uncertain significance Single submitter
- BCO1 p.Tyr245Ser Uncertain significance Single submitter
- BCO1 p.Val164Met Uncertain significance Single submitter
- BCO1 p.Val241Ile Uncertain significance Single submitter
- BCO1 p.Val310Ile Uncertain significance Single submitter
- BCO1 p.Val320Met Uncertain significance Single submitter
- BCO1 p.Val365Gly Uncertain significance Single submitter
- BCO1 p.Val365Met Uncertain significance Single submitter
- BCO1 p.Val371Leu Uncertain significance Single submitter
- BCO1 p.Val371Met Uncertain significance Single submitter
- BCO1 p.Val426Ile Uncertain significance Single submitter
- BCO1 p.Val42Ala Uncertain significance Single submitter
- BCO1 p.Val89Ala Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- BCO1 p.Arg266Trp Uncertain significance Multiple submitters
- BCO1 p.Ala109Gly Uncertain significance Single submitter
- BCO1 p.Ala312Gly Uncertain significance Single submitter
- BCO1 p.Arg266Gln Uncertain significance Single submitter
- BCO1 p.Arg408Trp Uncertain significance Single submitter
- BCO1 p.Asn148Thr Uncertain significance Single submitter
- BCO1 p.Asn180Ser Uncertain significance Single submitter
- BCO1 p.Asn374His Likely benign Single submitter
- BCO1 p.Asp122Asn Uncertain significance Single submitter
- BCO1 p.Gly317Ser Uncertain significance Single submitter
- BCO1 p.Gly465Val Uncertain significance Single submitter
- BCO1 p.His174Arg Uncertain significance Single submitter
- BCO1 p.His510Tyr Uncertain significance Single submitter
- BCO1 p.Ile128Met Uncertain significance Single submitter
- BCO1 p.Leu231Phe Uncertain significance Single submitter
- BCO1 p.Leu337Arg Uncertain significance Single submitter
- BCO1 p.Lys130Thr Uncertain significance Single submitter
- BCO1 p.Lys200Glu Uncertain significance Single submitter
- BCO1 p.Met260Thr Uncertain significance Single submitter
- BCO1 p.Phe253Ser Uncertain significance Single submitter
- BCO1 p.Pro464Ala Uncertain significance Single submitter
- BCO1 p.Ser238Thr Uncertain significance Single submitter
- BCO1 p.Ser352Leu Uncertain significance Single submitter
- BCO1 p.Ser71Asn Uncertain significance Single submitter
- BCO1 p.Thr381Ala Uncertain significance Single submitter
- BCO1 p.Trp50Leu Uncertain significance Single submitter
- BCO1 p.Tyr175Phe Uncertain significance Single submitter
- BCO1 p.Val20Leu Uncertain significance Single submitter
- BCO1 p.Val361Ala Uncertain significance Single submitter
-
BCO1 p.Ile324Thr
Likely benign
No assertion criteria
BCO1-related disorder
All BCO1 variants
Conflicting classifications of pathogenicity 2
- p.Cys541Tyr Single submitter ⚠
- p.Gly317Asp Single submitter ⚠
Benign 31
- c.1101+48C>T Multiple submitters
- c.1102-81T>C Multiple submitters
- c.1303-13G>A Multiple submitters
- c.1303-70A>G Multiple submitters
- c.194-219A>G Multiple submitters
- c.194-74A>G Multiple submitters
- c.471+14T>C Multiple submitters
- c.619+145C>G Multiple submitters
- c.620-53G>C Multiple submitters
- c.64+51T>A Multiple submitters
- c.844-5T>C Multiple submitters
- p.Ala379Val Multiple submitters
- p.Arg267Ser Multiple submitters
- p.Asn35= Multiple submitters
- p.Gly472Ala Multiple submitters
- p.Pro226= Multiple submitters
- p.Thr121= Multiple submitters
- c.1208-263A>G Single submitter
- c.1302+199G>A Single submitter
- c.1414+287T>G Single submitter
- c.193+170C>G Single submitter
- c.193+226A>G Single submitter
- c.193+265_193+272del Single submitter
- c.193+267_193+272del Single submitter
- c.193+272dup Single submitter
- c.193+274T>C Single submitter
- c.194-238G>A Single submitter
- c.323+259G>A Single submitter
- c.472-212A>G Single submitter
- c.64+206G>A Single submitter
- c.843+273A>G Single submitter
Benign/Likely benign 1
- p.Ala530Thr Multiple submitters
Likely benign 34
- c.1302+5T>C Single submitter
- c.1302+7G>T Single submitter
- c.194-19G>C Single submitter
- c.194-7C>G Single submitter
- c.323+11A>G Single submitter
- c.324-14G>C Single submitter
- p.Ala360= Single submitter
- p.Ala379Ser Single submitter
- p.Ala463Thr Single submitter
- p.Ala463Val Single submitter
- p.Arg161Cys Single submitter
- p.Asn311= Single submitter
- p.Asn374His Single submitter ⚠
- p.Asp176Glu Single submitter
- p.Asp288Asn Single submitter
- p.Asp322= Single submitter
- p.Asp451= Single submitter
- p.Asp451Glu Single submitter
- p.Cys541= Single submitter
- p.Gln534Glu Single submitter
- p.His309= Single submitter
- p.Leu230= Single submitter
- p.Lys193= Single submitter
- p.Phe335= Single submitter
- p.Pro25= Single submitter
- p.Thr141= Single submitter
- p.Thr170= Single submitter
- p.Thr262= Single submitter
- p.Val166Ile Single submitter
- p.Val241= Single submitter
- c.1102-10A>G No assertion criteria BCO1-related disorder
- p.Ala165= No assertion criteria BCO1-related disorder
- p.Asp52= No assertion criteria BCO1-related disorder
- p.Ile324Thr No assertion criteria BCO1-related disorder ⚠
Uncertain significance 100
- p.Arg266Trp Multiple submitters ⚠
- p.Thr170Met Multiple submitters hereditary hypercarotenemia and vitamin A deficiency ⚠
- p.Ala109Gly Single submitter ⚠
- p.Ala178Gly Single submitter ⚠
- p.Ala178Val Single submitter ⚠
- p.Ala312Gly Single submitter ⚠
- p.Ala338Val Single submitter ⚠
- p.Ala538Val Single submitter ⚠
- p.Arg161His Single submitter ⚠
- p.Arg17Ser Single submitter ⚠
- p.Arg228His Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Arg267Lys Single submitter ⚠
- p.Arg408Gln Single submitter ⚠
- p.Arg408Trp Single submitter ⚠
- p.Arg502Cys Single submitter ⚠
- p.Arg75Lys Single submitter ⚠
- p.Arg9Ser Single submitter
- p.Asn142Ser Single submitter hereditary hypercarotenemia and vitamin A deficiency ⚠
- p.Asn148Thr Single submitter ⚠
- p.Asn180Ser Single submitter ⚠
- p.Asn341Lys Single submitter ⚠
- p.Asn86Lys Single submitter ⚠
- p.Asp122Asn Single submitter ⚠
- p.Asp256Asn Single submitter ⚠
- p.Asp452Gly Single submitter ⚠
- p.Asp468Gly Single submitter ⚠
- p.Asp493Val Single submitter hereditary hypercarotenemia and vitamin A deficiency ⚠
- p.Asp52Asn Single submitter ⚠
- p.Asp540Ala Single submitter ⚠
- p.Asp77Tyr Single submitter ⚠
- p.Cys102Tyr Single submitter ⚠
- p.Cys273Phe Single submitter hereditary hypercarotenemia and vitamin A deficiency ⚠
- p.Gln150His Single submitter ⚠
- p.Gln289Glu Single submitter ⚠
- p.Gln534His Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu327Lys Single submitter ⚠
- p.Gly212Arg Single submitter ⚠
- p.Gly317Ser Single submitter ⚠
- p.Gly36Arg Single submitter ⚠
- p.Gly465Val Single submitter ⚠
- p.Gly543Trp Single submitter ⚠
- p.His174Arg Single submitter ⚠
- p.His277Tyr Single submitter ⚠
- p.His510Tyr Single submitter ⚠
- p.His542Pro Single submitter ⚠
- p.Ile128Met Single submitter ⚠
- p.Ile284Val Single submitter ⚠
- p.Ile287Met Single submitter ⚠
- p.Ile324Val Single submitter ⚠
- p.Leu231Phe Single submitter ⚠
- p.Leu231Val Single submitter ⚠
- p.Leu331Phe Single submitter
- p.Leu337Arg Single submitter ⚠
- p.Leu400Val Single submitter ⚠
- p.Leu516Ile Single submitter ⚠
- p.Lys130Thr Single submitter ⚠
- p.Lys157Thr Single submitter ⚠
- p.Lys200Glu Single submitter ⚠
- p.Lys209Glu Single submitter ⚠
- p.Lys526Glu Single submitter ⚠
- p.Met260Thr Single submitter ⚠
- p.Phe253Ser Single submitter ⚠
- p.Phe359Cys Single submitter ⚠
- p.Pro15Ala Single submitter ⚠
- p.Pro206Ser Single submitter ⚠
- p.Pro397Leu Single submitter ⚠
- p.Pro458Ser Single submitter ⚠
- p.Pro458Thr Single submitter ⚠
- p.Pro464Ala Single submitter ⚠
- p.Pro99Gln Single submitter ⚠
- p.Ser229Thr Single submitter ⚠
- p.Ser238Thr Single submitter ⚠
- p.Ser352Leu Single submitter ⚠
- p.Ser444Thr Single submitter ⚠
- p.Ser71Asn Single submitter ⚠
- p.Ser76Arg Single submitter ⚠
- p.Thr138Ala Single submitter ⚠
- p.Thr31Asn Single submitter ⚠
- p.Thr381Ala Single submitter ⚠
- p.Thr384Met Single submitter ⚠
- p.Trp50Leu Single submitter ⚠
- p.Tyr175Phe Single submitter ⚠
- p.Tyr236Asp Single submitter ⚠
- p.Tyr245Ser Single submitter ⚠
- p.Val164Met Single submitter ⚠
- p.Val20Leu Single submitter ⚠
- p.Val241Ile Single submitter ⚠
- p.Val310Ile Single submitter ⚠
- p.Val320Met Single submitter ⚠
- p.Val361Ala Single submitter ⚠
- p.Val365Gly Single submitter ⚠
- p.Val365Met Single submitter ⚠
- p.Val371Leu Single submitter ⚠
- p.Val371Met Single submitter ⚠
- p.Val426Ile Single submitter ⚠
- p.Val42Ala Single submitter ⚠
- p.Val89Ala Single submitter ⚠