BOC — 207 ClinVar variants
All ClinVar germline BOC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 191 flagged for review →
2 Conflicting · 6 Benign · 13 Likely benign · 186 Uncertain significance
Full BOC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 191
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 133
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BOC p.Ala226Thr Uncertain significance Single submitter
- BOC p.Ala424Thr Uncertain significance Single submitter
- BOC p.Ala470Val Uncertain significance Single submitter
- BOC p.Ala503Val Uncertain significance Single submitter
- BOC p.Ala578Thr Uncertain significance Single submitter
- BOC p.Ala684Thr Uncertain significance Single submitter
- BOC p.Ala828Thr Uncertain significance Single submitter
- BOC p.Ala8Val Uncertain significance Single submitter
- BOC p.Ala944Gly Uncertain significance Single submitter
- BOC p.Ala95Thr Uncertain significance Single submitter
- BOC p.Arg1022Cys Uncertain significance Single submitter
- BOC p.Arg1022His Uncertain significance Single submitter
- BOC p.Arg220Cys Uncertain significance Single submitter
- BOC p.Arg220Leu Uncertain significance Single submitter
- BOC p.Arg261Trp Uncertain significance Single submitter
- BOC p.Arg347Cys Uncertain significance Single submitter
- BOC p.Arg358Lys Uncertain significance Single submitter
- BOC p.Arg373Gly Uncertain significance Single submitter
- BOC p.Arg377His Uncertain significance Single submitter
- BOC p.Arg3Cys Uncertain significance Single submitter
- BOC p.Arg603His Uncertain significance Single submitter
- BOC p.Arg664Gln Uncertain significance Single submitter
- BOC p.Arg664Trp Uncertain significance Single submitter
- BOC p.Arg708Cys Uncertain significance Single submitter
- BOC p.Arg712Ser Uncertain significance Single submitter
- BOC p.Arg754Gln Uncertain significance Single submitter
- BOC p.Arg821Gln Uncertain significance Single submitter
- BOC p.Arg821Pro Uncertain significance Single submitter
- BOC p.Arg840Gln Uncertain significance Single submitter
- BOC p.Arg850His Uncertain significance Single submitter
- BOC p.Arg880Ser Uncertain significance Single submitter
- BOC p.Arg895Gln Uncertain significance Single submitter
- BOC p.Arg929Pro Uncertain significance Single submitter
- BOC p.Asn144His Uncertain significance Single submitter
- BOC p.Asn316Ser Uncertain significance Single submitter
- BOC p.Asn349Lys Uncertain significance Single submitter
- BOC p.Asp1007Tyr Uncertain significance Single submitter
- BOC p.Asp1018Asn Uncertain significance Single submitter
- BOC p.Asp1018His Uncertain significance Single submitter
- BOC p.Asp1039Asn Uncertain significance Single submitter
- BOC p.Asp587Asn Uncertain significance Single submitter
- BOC p.Asp966Glu Uncertain significance Single submitter
- BOC p.Glu236Lys Uncertain significance Single submitter
- BOC p.Glu291Lys Uncertain significance Single submitter
- BOC p.Glu396Gln Uncertain significance Single submitter
- BOC p.Glu422Ala Uncertain significance Single submitter
- BOC p.Glu498Gly Uncertain significance Single submitter
- BOC p.Glu498Lys Uncertain significance Single submitter
- BOC p.Glu643Ala Uncertain significance Single submitter
- BOC p.Glu668Asp Uncertain significance Single submitter
- BOC p.Glu711Lys Uncertain significance Single submitter
- BOC p.Glu960Lys Uncertain significance Single submitter
- BOC p.Glu997Gln Uncertain significance Single submitter
- BOC p.Gly1054Glu Uncertain significance Single submitter
- BOC p.Gly214Ala Uncertain significance Single submitter
- BOC p.Gly214Ser Uncertain significance Single submitter
- BOC p.Gly464Ala Uncertain significance Single submitter
- BOC p.Gly467Ala Uncertain significance Single submitter
- BOC p.Gly467Val Uncertain significance Single submitter
-
BOC p.Gly557Glu
Uncertain significance
Single submitter
holoprosencephaly
- BOC p.Gly602Ser Uncertain significance Single submitter
- BOC p.Gly950Ser Uncertain significance Single submitter
- BOC p.Gly990Arg Uncertain significance Single submitter
- BOC p.Gly998Asp Uncertain significance Single submitter
- BOC p.His1010Asn Uncertain significance Single submitter
- BOC p.His1016Tyr Uncertain significance Single submitter
- BOC p.His1052Gln Uncertain significance Single submitter
- BOC p.His156Tyr Uncertain significance Single submitter
- BOC p.His99Tyr Uncertain significance Single submitter
- BOC p.Ile232Val Uncertain significance Single submitter
- BOC p.Ile249Val Uncertain significance Single submitter
- BOC p.Ile576Leu Uncertain significance Single submitter
- BOC p.Ile746Val Uncertain significance Single submitter
- BOC p.Ile778Val Uncertain significance Single submitter
- BOC p.Ile866Val Uncertain significance Single submitter
- BOC p.Ile869Val Uncertain significance Single submitter
- BOC p.Leu1043Val Uncertain significance Single submitter
- BOC p.Leu363Phe Uncertain significance Single submitter
- BOC p.Leu85Phe Uncertain significance Single submitter
- BOC p.Leu961Arg Uncertain significance Single submitter
- BOC p.Lys341Arg Uncertain significance Single submitter
- BOC p.Lys580Glu Uncertain significance Single submitter
- BOC p.Met197Thr Uncertain significance Single submitter
- BOC p.Met327Thr Uncertain significance Single submitter
- BOC p.Met687Leu Uncertain significance Single submitter
- BOC p.Met735Thr Uncertain significance Single submitter
- BOC p.Met906Thr Uncertain significance Single submitter
- BOC p.Met906Val Uncertain significance Single submitter
- BOC p.Pro1055Ser Uncertain significance Single submitter
- BOC p.Pro119Leu Uncertain significance Single submitter
- BOC p.Pro14Ser Uncertain significance Single submitter
- BOC p.Pro235Gln Uncertain significance Single submitter
- BOC p.Pro235Thr Uncertain significance Single submitter
- BOC p.Pro259Ser Uncertain significance Single submitter
- BOC p.Pro351Leu Uncertain significance Single submitter
- BOC p.Pro428Arg Uncertain significance Single submitter
- BOC p.Pro449Leu Uncertain significance Single submitter
- BOC p.Pro457Thr Uncertain significance Single submitter
- BOC p.Pro606Arg Uncertain significance Single submitter
- BOC p.Pro832Ala Uncertain significance Single submitter
- BOC p.Pro841Arg Uncertain significance Single submitter
- BOC p.Pro841Leu Uncertain significance Single submitter
- BOC p.Pro913Ala Uncertain significance Single submitter
- BOC p.Pro953His Uncertain significance Single submitter
- BOC p.Ser215Phe Uncertain significance Single submitter
- BOC p.Ser224Phe Uncertain significance Single submitter
- BOC p.Ser44Pro Uncertain significance Single submitter
- BOC p.Ser694Arg Uncertain significance Single submitter
- BOC p.Thr1003Ile Uncertain significance Single submitter
- BOC p.Thr272Ile Uncertain significance Single submitter
- BOC p.Thr277Met Uncertain significance Single submitter
- BOC p.Thr614Asn Uncertain significance Single submitter
- BOC p.Thr621Ile Uncertain significance Single submitter
- BOC p.Thr657Ala Uncertain significance Single submitter
- BOC p.Thr7Met Uncertain significance Single submitter
- BOC p.Thr844Ser Uncertain significance Single submitter
- BOC p.Thr967Asn Uncertain significance Single submitter
- BOC p.Thr974Ile Uncertain significance Single submitter
- BOC p.Tyr389Cys Uncertain significance Single submitter
- BOC p.Tyr624Cys Uncertain significance Single submitter
- BOC p.Tyr856Cys Uncertain significance Single submitter
- BOC p.Val1029Ala Uncertain significance Single submitter
- BOC p.Val1086Leu Uncertain significance Single submitter
- BOC p.Val118Met Uncertain significance Single submitter
- BOC p.Val38Phe Uncertain significance Single submitter
- BOC p.Val403Ile Uncertain significance Single submitter
- BOC p.Val625Met Uncertain significance Single submitter
- BOC p.Val701Met Uncertain significance Single submitter
- BOC p.Val867Ile Uncertain significance Single submitter
- BOC p.Val867Leu Uncertain significance Single submitter
- BOC p.Val871Ile Uncertain significance Single submitter
- BOC p.Val907Ala Uncertain significance Single submitter
- BOC p.Val92Leu Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
- BOC p.Lys884Asn Benign Multiple submitters
- BOC p.Pro829Arg Benign Multiple submitters
- BOC p.Arg103Trp Uncertain significance Single submitter
- BOC p.Arg13Lys Uncertain significance Single submitter
- BOC p.Arg162Gln Uncertain significance Single submitter
- BOC p.Arg174Ser Uncertain significance Single submitter
- BOC p.Arg220His Uncertain significance Single submitter
- BOC p.Arg278His Uncertain significance Single submitter
- BOC p.Arg298His Uncertain significance Single submitter
- BOC p.Arg373Leu Uncertain significance Single submitter
- BOC p.Arg407Trp Uncertain significance Single submitter
- BOC p.Arg482Cys Uncertain significance Single submitter
- BOC p.Arg513His Uncertain significance Single submitter
- BOC p.Arg570Trp Uncertain significance Single submitter
- BOC p.Arg603Cys Uncertain significance Single submitter
- BOC p.Arg641His Uncertain significance Single submitter
- BOC p.Arg698Trp Uncertain significance Single submitter
- BOC p.Asp723Gly Uncertain significance Single submitter
- BOC p.Cys20Tyr Uncertain significance Single submitter
- BOC p.Gln331Lys Uncertain significance Single submitter
- BOC p.Gln367Leu Uncertain significance Single submitter
- BOC p.Glu394Lys Uncertain significance Single submitter
- BOC p.Glu473Lys Uncertain significance Single submitter
- BOC p.Gly304Glu Uncertain significance Single submitter
- BOC p.Gly50Arg Uncertain significance Single submitter
- BOC p.Leu22Val Uncertain significance Single submitter
- BOC p.Leu314Pro Uncertain significance Single submitter
- BOC p.Leu537Phe Uncertain significance Single submitter
- BOC p.Leu545Phe Uncertain significance Single submitter
- BOC p.Leu854Pro Uncertain significance Single submitter
- BOC p.Lys276Asn Uncertain significance Single submitter
- BOC p.Met392Thr Uncertain significance Single submitter
- BOC p.Pro322His Uncertain significance Single submitter
- BOC p.Pro471Ser Uncertain significance Single submitter
- BOC p.Pro745Ala Uncertain significance Single submitter
- BOC p.Pro942Arg Uncertain significance Single submitter
- BOC p.Ser270Thr Uncertain significance Single submitter
- BOC p.Ser366Asn Uncertain significance Single submitter
- BOC p.Ser480Leu Uncertain significance Single submitter
- BOC p.Ser663Leu Uncertain significance Single submitter
- BOC p.Ser779Gly Uncertain significance Single submitter
- BOC p.Ser78Leu Uncertain significance Single submitter
- BOC p.Ser78Pro Uncertain significance Single submitter
- BOC p.Thr225Ile Uncertain significance Single submitter
- BOC p.Thr670Met Uncertain significance Single submitter
- BOC p.Thr676Ile Uncertain significance Single submitter
- BOC p.Thr744Asn Uncertain significance Single submitter
- BOC p.Val1046Met Likely benign Single submitter
- BOC p.Val1090Ile Uncertain significance Single submitter
- BOC p.Val137Met Uncertain significance Single submitter
- BOC p.Val378Met Uncertain significance Single submitter
- BOC p.Val40Phe Uncertain significance Single submitter
- BOC p.Val709Met Uncertain significance Single submitter
- BOC p.Val859Phe Uncertain significance Single submitter
- BOC p.Val862Phe Uncertain significance Single submitter
- BOC p.Val907Met Uncertain significance Single submitter
All BOC variants
Conflicting classifications of pathogenicity 2
- p.Thr272Asn Single submitter ⚠
- p.Thr453Ala Single submitter ⚠
Benign 6
- p.Ala715= Multiple submitters
- p.Lys884Asn Multiple submitters ⚠
- p.Pro829Arg Multiple submitters ⚠
- p.Pro913Ser Multiple submitters
- p.Gly798= Single submitter
- p.Gly864= Single submitter
Likely benign 13
- p.Arg1105His Single submitter
- p.Arg370Gln Single submitter
- p.Asn531Ser Single submitter
- p.Cys200= Single submitter
- p.Gln128Glu Single submitter
- p.Gln955= Single submitter
- p.Leu1103Pro Single submitter
- p.Leu688= Single submitter
- p.Met327Val Single submitter
- p.Ser353= Single submitter
- p.Ser500Gly Single submitter
- p.Val1046Met Single submitter ⚠
- p.Val946Met Single submitter
Uncertain significance 186
- p.Ala226Thr Single submitter ⚠
- p.Ala424Thr Single submitter ⚠
- p.Ala470Val Single submitter ⚠
- p.Ala503Val Single submitter ⚠
- p.Ala578Thr Single submitter ⚠
- p.Ala684Thr Single submitter ⚠
- p.Ala828Thr Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Ala944Gly Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Arg1022Cys Single submitter ⚠
- p.Arg1022His Single submitter ⚠
- p.Arg103Trp Single submitter ⚠
- p.Arg13Lys Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg174Ser Single submitter ⚠
- p.Arg220Cys Single submitter ⚠
- p.Arg220His Single submitter ⚠
- p.Arg220Leu Single submitter ⚠
- p.Arg261Trp Single submitter ⚠
- p.Arg278His Single submitter ⚠
- p.Arg298His Single submitter ⚠
- p.Arg347Cys Single submitter ⚠
- p.Arg358Lys Single submitter ⚠
- p.Arg373Gly Single submitter ⚠
- p.Arg373Leu Single submitter ⚠
- p.Arg377His Single submitter ⚠
- p.Arg3Cys Single submitter ⚠
- p.Arg407Trp Single submitter ⚠
- p.Arg482Cys Single submitter ⚠
- p.Arg513His Single submitter ⚠
- p.Arg570Trp Single submitter ⚠
- p.Arg603Cys Single submitter ⚠
- p.Arg603His Single submitter ⚠
- p.Arg641His Single submitter ⚠
- p.Arg664Gln Single submitter ⚠
- p.Arg664Trp Single submitter ⚠
- p.Arg698Trp Single submitter ⚠
- p.Arg708Cys Single submitter ⚠
- p.Arg712Ser Single submitter ⚠
- p.Arg754Gln Single submitter ⚠
- p.Arg821Gln Single submitter ⚠
- p.Arg821Pro Single submitter ⚠
- p.Arg840Gln Single submitter ⚠
- p.Arg850His Single submitter ⚠
- p.Arg880Ser Single submitter ⚠
- p.Arg895Gln Single submitter ⚠
- p.Arg929Pro Single submitter ⚠
- p.Asn144His Single submitter ⚠
- p.Asn316Ser Single submitter ⚠
- p.Asn349Lys Single submitter ⚠
- p.Asp1007Tyr Single submitter ⚠
- p.Asp1018Asn Single submitter ⚠
- p.Asp1018His Single submitter ⚠
- p.Asp1039Asn Single submitter ⚠
- p.Asp587Asn Single submitter ⚠
- p.Asp723Gly Single submitter ⚠
- p.Asp966Glu Single submitter ⚠
- p.Cys20Tyr Single submitter ⚠
- p.Gln331Lys Single submitter ⚠
- p.Gln367Leu Single submitter ⚠
- p.Glu236Lys Single submitter ⚠
- p.Glu291Lys Single submitter ⚠
- p.Glu394Lys Single submitter ⚠
- p.Glu396Gln Single submitter ⚠
- p.Glu422Ala Single submitter ⚠
- p.Glu473Lys Single submitter ⚠
- p.Glu498Gly Single submitter ⚠
- p.Glu498Lys Single submitter ⚠
- p.Glu643Ala Single submitter ⚠
- p.Glu668Asp Single submitter ⚠
- p.Glu711Lys Single submitter ⚠
- p.Glu960Lys Single submitter ⚠
- p.Glu997Gln Single submitter ⚠
- p.Gly1054Glu Single submitter ⚠
- p.Gly214Ala Single submitter ⚠
- p.Gly214Ser Single submitter ⚠
- p.Gly304Glu Single submitter ⚠
- p.Gly464Ala Single submitter ⚠
- p.Gly467Ala Single submitter ⚠
- p.Gly467Val Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.Gly557Glu Single submitter holoprosencephaly ⚠
- p.Gly602Ser Single submitter ⚠
- p.Gly950Ser Single submitter ⚠
- p.Gly990Arg Single submitter ⚠
- p.Gly998Asp Single submitter ⚠
- p.His1010Asn Single submitter ⚠
- p.His1016Tyr Single submitter ⚠
- p.His1052Gln Single submitter ⚠
- p.His156Tyr Single submitter ⚠
- p.His99Tyr Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile249Val Single submitter ⚠
- p.Ile576Leu Single submitter ⚠
- p.Ile746Val Single submitter ⚠
- p.Ile778Val Single submitter ⚠
- p.Ile866Val Single submitter ⚠
- p.Ile869Val Single submitter ⚠
- p.Leu1043Val Single submitter ⚠
- p.Leu22Val Single submitter ⚠
- p.Leu314Pro Single submitter ⚠
- p.Leu363Phe Single submitter ⚠
- p.Leu537Phe Single submitter ⚠
- p.Leu545Phe Single submitter ⚠
- p.Leu854Pro Single submitter ⚠
- p.Leu85Phe Single submitter ⚠
- p.Leu961Arg Single submitter ⚠
- p.Lys276Asn Single submitter ⚠
- p.Lys341Arg Single submitter ⚠
- p.Lys580Glu Single submitter ⚠
- p.Met197Thr Single submitter ⚠
- p.Met327Thr Single submitter ⚠
- p.Met392Thr Single submitter ⚠
- p.Met687Leu Single submitter ⚠
- p.Met735Thr Single submitter ⚠
- p.Met906Thr Single submitter ⚠
- p.Met906Val Single submitter ⚠
- p.Pro1055Ser Single submitter ⚠
- p.Pro119Leu Single submitter ⚠
- p.Pro14Ser Single submitter ⚠
- p.Pro235Gln Single submitter ⚠
- p.Pro235Thr Single submitter ⚠
- p.Pro259Ser Single submitter ⚠
- p.Pro322His Single submitter ⚠
- p.Pro351Leu Single submitter ⚠
- p.Pro428Arg Single submitter ⚠
- p.Pro449Leu Single submitter ⚠
- p.Pro457Thr Single submitter ⚠
- p.Pro471Ser Single submitter ⚠
- p.Pro606Arg Single submitter ⚠
- p.Pro745Ala Single submitter ⚠
- p.Pro832Ala Single submitter ⚠
- p.Pro841Arg Single submitter ⚠
- p.Pro841Leu Single submitter ⚠
- p.Pro913Ala Single submitter ⚠
- p.Pro942Arg Single submitter ⚠
- p.Pro953His Single submitter ⚠
- p.Ser215Phe Single submitter ⚠
- p.Ser224Phe Single submitter ⚠
- p.Ser270Thr Single submitter ⚠
- p.Ser366Asn Single submitter ⚠
- p.Ser44Pro Single submitter ⚠
- p.Ser480Leu Single submitter ⚠
- p.Ser663Leu Single submitter ⚠
- p.Ser694Arg Single submitter ⚠
- p.Ser779Gly Single submitter ⚠
- p.Ser78Leu Single submitter ⚠
- p.Ser78Pro Single submitter ⚠
- p.Thr1003Ile Single submitter ⚠
- p.Thr225Ile Single submitter ⚠
- p.Thr272Ile Single submitter ⚠
- p.Thr277Met Single submitter ⚠
- p.Thr614Asn Single submitter ⚠
- p.Thr621Ile Single submitter ⚠
- p.Thr657Ala Single submitter ⚠
- p.Thr670Met Single submitter ⚠
- p.Thr676Ile Single submitter ⚠
- p.Thr744Asn Single submitter ⚠
- p.Thr7Met Single submitter ⚠
- p.Thr844Ser Single submitter ⚠
- p.Thr967Asn Single submitter ⚠
- p.Thr974Ile Single submitter ⚠
- p.Tyr389Cys Single submitter ⚠
- p.Tyr624Cys Single submitter ⚠
- p.Tyr856Cys Single submitter ⚠
- p.Val1029Ala Single submitter ⚠
- p.Val1086Leu Single submitter ⚠
- p.Val1090Ile Single submitter ⚠
- p.Val118Met Single submitter ⚠
- p.Val137Met Single submitter ⚠
- p.Val378Met Single submitter ⚠
- p.Val38Phe Single submitter ⚠
- p.Val403Ile Single submitter ⚠
- p.Val40Phe Single submitter ⚠
- p.Val625Met Single submitter ⚠
- p.Val701Met Single submitter ⚠
- p.Val709Met Single submitter ⚠
- p.Val859Phe Single submitter ⚠
- p.Val862Phe Single submitter ⚠
- p.Val867Ile Single submitter ⚠
- p.Val867Leu Single submitter ⚠
- p.Val871Ile Single submitter ⚠
- p.Val907Ala Single submitter ⚠
- p.Val907Met Single submitter ⚠
- p.Val92Leu Single submitter ⚠