Project HERA
BCOR variants
Every BCOR variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
BCOR variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
BCOR
NM_017745.5:c.2265C>A
NP_060215.4:p.(Y755*)
Likely Pathogenic
View →
BCOR
NM_017745.5:c.3870_3871insC
NP_060215.4:p.(K1291Qfs*84)
Likely Pathogenic
View →
BCOR
NM_017745.5:c.519C>T
NP_060215.4:p.(S173=)
Likely Benign
View →
BCOR
NM_001123385.1:c.1005dup
NP_001116857.1:p.(S336Lfs*45)
VUS
View →
BCOR
NM_017745.5:c.4677C>T
NP_060215.4:p.(D1559=)
VUS
View →