Project HERA

BAP1 variants

Every BAP1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

6 variants

BAP1 variants

Newest first. Each row opens the full report, criterion by criterion.

6 shown

Variant

Protein change

Classification

BAP1 NM_004656.4:c.126T>C

NP_004647.1:p.(P42=)

BAP1 NM_004656.4:c.86T>G

NP_004647.1:p.(V29G)

BAP1 NM_004656.4:c.1081_1084del

NP_004647.1:p.(L361Tfs*68)

Likely Pathogenic

BAP1 NM_004656.4:c.37+28G>A

NP_004647.1:p.?

BAP1 NM_004656.4:c.376_382del

NP_004647.1:p.(S126Dfs*59)

BAP1 NM_004656.4:c.37+28G>A

NP_004647.1:p.?