BCAM — 136 ClinVar variants
All ClinVar germline BCAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 10 Benign · 18 Likely benign · 104 Uncertain significance
Full BCAM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCAM p.Ala13Ser Uncertain significance Single submitter
- BCAM p.Ala149Thr Uncertain significance Single submitter
- BCAM p.Ala170Pro Uncertain significance Single submitter
- BCAM p.Ala180Pro Uncertain significance Single submitter
- BCAM p.Ala233Ser Uncertain significance Single submitter
- BCAM p.Ala31Gly Uncertain significance Single submitter
- BCAM p.Ala493Thr Uncertain significance Single submitter
- BCAM p.Ala514Val Uncertain significance Single submitter
- BCAM p.Ala587Val Uncertain significance Single submitter
- BCAM p.Arg499Gln Uncertain significance Single submitter
- BCAM p.Arg582Gln Uncertain significance Single submitter
- BCAM p.Arg618Lys Uncertain significance Single submitter
- BCAM p.Arg96Gln Uncertain significance Single submitter
- BCAM p.Asn199Lys Uncertain significance Single submitter
- BCAM p.Asn419Ser Uncertain significance Single submitter
- BCAM p.Asp343Asn Uncertain significance Single submitter
- BCAM p.Asp362Glu Uncertain significance Single submitter
- BCAM p.Asp405Asn Uncertain significance Single submitter
- BCAM p.Asp405Gly Uncertain significance Single submitter
- BCAM p.Asp467Glu Uncertain significance Single submitter
- BCAM p.Glu201Asp Uncertain significance Single submitter
- BCAM p.Glu319Lys Uncertain significance Single submitter
- BCAM p.Gly477Ser Uncertain significance Single submitter
- BCAM p.Gly529Arg Uncertain significance Single submitter
- BCAM p.Gly576Ser Uncertain significance Single submitter
- BCAM p.Gly591Glu Uncertain significance Single submitter
- BCAM p.Gly607Ser Uncertain significance Single submitter
- BCAM p.Gly615Arg Uncertain significance Single submitter
- BCAM p.Leu251Gln Uncertain significance Single submitter
- BCAM p.Met162Ile Uncertain significance Single submitter
- BCAM p.Pro147Ser Uncertain significance Single submitter
- BCAM p.Pro277Ser Uncertain significance Single submitter
- BCAM p.Pro3Ala Uncertain significance Single submitter
- BCAM p.Pro603Ser Uncertain significance Single submitter
- BCAM p.Ser462Asn Uncertain significance Single submitter
- BCAM p.Ser600Leu Uncertain significance Single submitter
- BCAM p.Thr259Ile Uncertain significance Single submitter
- BCAM p.Thr276Ser Uncertain significance Single submitter
- BCAM p.Trp270Ser Uncertain significance Single submitter
- BCAM p.Tyr186Cys Uncertain significance Single submitter
- BCAM p.Val433Gly Uncertain significance Single submitter
- BCAM p.Val564Ile Uncertain significance Single submitter
- BCAM p.Val565Ile Uncertain significance Single submitter
Predictors split 68
The independent predictors disagree with each other — read with care.
- BCAM p.Arg282His Benign Multiple submitters
- BCAM p.Val381Ile Benign Multiple submitters
- BCAM p.Ala129Ser Uncertain significance Single submitter
- BCAM p.Ala129Thr Uncertain significance Single submitter
- BCAM p.Ala132Thr Uncertain significance Single submitter
- BCAM p.Ala135Thr Uncertain significance Single submitter
- BCAM p.Ala344Thr Uncertain significance Single submitter
- BCAM p.Ala475Thr Likely benign Single submitter
- BCAM p.Arg109Cys Uncertain significance Single submitter
- BCAM p.Arg140Gly Uncertain significance Single submitter
- BCAM p.Arg207Cys Uncertain significance Single submitter
- BCAM p.Arg207Gly Uncertain significance Single submitter
- BCAM p.Arg231Gln Uncertain significance Single submitter
- BCAM p.Arg231Pro Uncertain significance Single submitter
- BCAM p.Arg247Cys Uncertain significance Single submitter
- BCAM p.Arg282Cys Uncertain significance Single submitter
- BCAM p.Arg305Cys Uncertain significance Single submitter
- BCAM p.Arg329Gln Uncertain significance Single submitter
- BCAM p.Arg517Cys Uncertain significance Single submitter
- BCAM p.Arg532Cys Uncertain significance Single submitter
- BCAM p.Arg532His Uncertain significance Single submitter
- BCAM p.Arg573Cys Uncertain significance Single submitter
- BCAM p.Arg580His Likely benign Single submitter
- BCAM p.Arg77His Benign Single submitter
- BCAM p.Asn188Tyr Uncertain significance Single submitter
- BCAM p.Asp119Asn Uncertain significance Single submitter
- BCAM p.Asp417Asn Uncertain significance Single submitter
- BCAM p.Asp70Tyr Uncertain significance Single submitter
- BCAM p.Gln167His Uncertain significance Single submitter
- BCAM p.Glu245Val Uncertain significance Single submitter
- BCAM p.Glu312Lys Uncertain significance Single submitter
- BCAM p.Glu604Lys Uncertain significance Single submitter
- BCAM p.Glu65Asp Uncertain significance Single submitter
- BCAM p.Gly246Ser Uncertain significance Single submitter
- BCAM p.Gly284Asp Uncertain significance Single submitter
- BCAM p.Gly489Glu Uncertain significance Single submitter
- BCAM p.Gly498Arg Uncertain significance Single submitter
- BCAM p.Gly619Asp Uncertain significance Single submitter
- BCAM p.Leu17Val Uncertain significance Single submitter
- BCAM p.Leu364Val Uncertain significance Single submitter
- BCAM p.Leu374Phe Uncertain significance Single submitter
- BCAM p.Phe568Leu Uncertain significance Single submitter
- BCAM p.Ser332Asn Uncertain significance Single submitter
- BCAM p.Ser379Thr Uncertain significance Single submitter
- BCAM p.Ser427Phe Uncertain significance Single submitter
- BCAM p.Ser486Arg Uncertain significance Single submitter
- BCAM p.Ser516Arg Uncertain significance Single submitter
- BCAM p.Ser72Leu Uncertain significance Single submitter
- BCAM p.Ser80Leu Uncertain significance Single submitter
- BCAM p.Ser99Gly Uncertain significance Single submitter
- BCAM p.Thr208Ala Uncertain significance Single submitter
- BCAM p.Thr208Lys Uncertain significance Single submitter
- BCAM p.Thr255Ile Uncertain significance Single submitter
- BCAM p.Thr286Ile Uncertain significance Single submitter
- BCAM p.Thr437Asn Uncertain significance Single submitter
- BCAM p.Thr470Ile Uncertain significance Single submitter
- BCAM p.Val111Met Uncertain significance Single submitter
- BCAM p.Val124Met Uncertain significance Single submitter
- BCAM p.Val143Met Uncertain significance Single submitter
- BCAM p.Val316Met Uncertain significance Single submitter
- BCAM p.Val358Leu Uncertain significance Single submitter
- BCAM p.Val382Met Uncertain significance Single submitter
- BCAM p.Val386Met Uncertain significance Single submitter
- BCAM p.Val540Ala Uncertain significance Single submitter
- BCAM p.Val554Met Uncertain significance Single submitter
- BCAM p.Val558Met Uncertain significance Single submitter
-
BCAM p.Met204Lys
Likely benign
No assertion criteria
BCAM-related disorder
-
BCAM p.Pro39Leu
Likely benign
No assertion criteria
BCAM-related disorder
All BCAM variants
Pathogenic 3
- p.Arg121Ter No assertion criteria BLOOD GROUP--LUTHERAN NULL
- p.Arg231Ter No assertion criteria BLOOD GROUP--LUTHERAN NULL
- p.Cys237Ter No assertion criteria BLOOD GROUP--LUTHERAN NULL
Likely pathogenic 1
- p.Asp294fs Single submitter BLOOD GROUP--LUTHERAN SYSTEM
Benign 10
- p.Arg282His Multiple submitters ⚠
- p.Leu409= Multiple submitters
- p.Thr539Ala Multiple submitters LuLu phenotype
- p.Val381Ile Multiple submitters ⚠
- p.Val540= Multiple submitters
- c.922-9G>A Single submitter
- p.Arg77His Single submitter ⚠
- p.Pro244= Single submitter
- p.Ala238= No assertion criteria BCAM-related disorder
- p.Cys237= No assertion criteria BCAM-related disorder
Likely benign 18
- p.Ala475Thr Single submitter ⚠
- p.Arg357His Single submitter
- p.Arg580His Single submitter ⚠
- p.Asn142= Single submitter
- p.Gly625Arg Single submitter
- p.Leu222= Single submitter
- p.Pro589Leu Single submitter
- p.Val423Ile Single submitter
- p.Val571Met Single submitter
- c.1764-4C>T No assertion criteria BCAM-related disorder
- c.1882-9G>A No assertion criteria BCAM-related disorder
- c.433+8T>A No assertion criteria BCAM-related disorder
- p.Lys451Gln No assertion criteria BCAM-related disorder
- p.Met204Lys No assertion criteria BCAM-related disorder ⚠
- p.Pro39Leu No assertion criteria BCAM-related disorder ⚠
- p.Ser332= No assertion criteria BCAM-related disorder
- p.Thr208= No assertion criteria BCAM-related disorder
- p.Thr539= No assertion criteria BCAM-related disorder
Uncertain significance 104
- p.Ala129Ser Single submitter ⚠
- p.Ala129Thr Single submitter ⚠
- p.Ala132Thr Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala13Ser Single submitter ⚠
- p.Ala149Thr Single submitter ⚠
- p.Ala170Pro Single submitter ⚠
- p.Ala180Pro Single submitter ⚠
- p.Ala233Ser Single submitter ⚠
- p.Ala31Gly Single submitter ⚠
- p.Ala344Thr Single submitter ⚠
- p.Ala493Thr Single submitter ⚠
- p.Ala514Val Single submitter ⚠
- p.Ala587Val Single submitter ⚠
- p.Arg109Cys Single submitter ⚠
- p.Arg140Gly Single submitter ⚠
- p.Arg207Cys Single submitter ⚠
- p.Arg207Gly Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg231Pro Single submitter ⚠
- p.Arg247Cys Single submitter ⚠
- p.Arg282Cys Single submitter ⚠
- p.Arg305Cys Single submitter ⚠
- p.Arg329Gln Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg517Cys Single submitter ⚠
- p.Arg532Cys Single submitter ⚠
- p.Arg532His Single submitter ⚠
- p.Arg573Cys Single submitter ⚠
- p.Arg582Gln Single submitter ⚠
- p.Arg618Lys Single submitter ⚠
- p.Arg96Gln Single submitter ⚠
- p.Asn188Tyr Single submitter ⚠
- p.Asn199Lys Single submitter ⚠
- p.Asn419Ser Single submitter ⚠
- p.Asp119Asn Single submitter ⚠
- p.Asp343Asn Single submitter ⚠
- p.Asp362Glu Single submitter ⚠
- p.Asp405Asn Single submitter ⚠
- p.Asp405Gly Single submitter ⚠
- p.Asp417Asn Single submitter ⚠
- p.Asp467Glu Single submitter ⚠
- p.Asp70Tyr Single submitter ⚠
- p.Gln167His Single submitter ⚠
- p.Glu201Asp Single submitter ⚠
- p.Glu245Val Single submitter ⚠
- p.Glu312Lys Single submitter ⚠
- p.Glu319Lys Single submitter ⚠
- p.Glu604Lys Single submitter ⚠
- p.Glu65Asp Single submitter ⚠
- p.Gly246Ser Single submitter ⚠
- p.Gly284Asp Single submitter ⚠
- p.Gly477Ser Single submitter ⚠
- p.Gly489Glu Single submitter ⚠
- p.Gly498Arg Single submitter ⚠
- p.Gly529Arg Single submitter ⚠
- p.Gly576Ser Single submitter ⚠
- p.Gly591Glu Single submitter ⚠
- p.Gly607Ser Single submitter ⚠
- p.Gly615Arg Single submitter ⚠
- p.Gly619Asp Single submitter ⚠
- p.Leu17Val Single submitter ⚠
- p.Leu251Gln Single submitter ⚠
- p.Leu364Val Single submitter ⚠
- p.Leu374Phe Single submitter ⚠
- p.Met162Ile Single submitter ⚠
- p.Phe568Leu Single submitter ⚠
- p.Pro147Ser Single submitter ⚠
- p.Pro277Ser Single submitter ⚠
- p.Pro3Ala Single submitter ⚠
- p.Pro603Ser Single submitter ⚠
- p.Ser332Asn Single submitter ⚠
- p.Ser379Thr Single submitter ⚠
- p.Ser427Phe Single submitter ⚠
- p.Ser462Asn Single submitter ⚠
- p.Ser486Arg Single submitter ⚠
- p.Ser516Arg Single submitter ⚠
- p.Ser600Leu Single submitter ⚠
- p.Ser72Leu Single submitter ⚠
- p.Ser80Leu Single submitter ⚠
- p.Ser99Gly Single submitter ⚠
- p.Thr208Ala Single submitter ⚠
- p.Thr208Lys Single submitter ⚠
- p.Thr255Ile Single submitter ⚠
- p.Thr259Ile Single submitter ⚠
- p.Thr276Ser Single submitter ⚠
- p.Thr286Ile Single submitter ⚠
- p.Thr437Asn Single submitter ⚠
- p.Thr470Ile Single submitter ⚠
- p.Trp270Ser Single submitter ⚠
- p.Tyr186Cys Single submitter ⚠
- p.Val111Met Single submitter ⚠
- p.Val124Met Single submitter ⚠
- p.Val143Met Single submitter ⚠
- p.Val316Met Single submitter ⚠
- p.Val358Leu Single submitter ⚠
- p.Val382Met Single submitter ⚠
- p.Val386Met Single submitter ⚠
- p.Val433Gly Single submitter ⚠
- p.Val540Ala Single submitter ⚠
- p.Val554Met Single submitter ⚠
- p.Val558Met Single submitter ⚠
- p.Val564Ile Single submitter ⚠
- p.Val565Ile Single submitter ⚠