Project HERA

BCORL1 variants

Every BCORL1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

7 variants

BCORL1 variants

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

7 shown

Variant

Protein change

Classification

BCORL1 NM_021946.4:c.1953C>T

NP_068765.3:p.(H651=)

BCORL1 NM_021946.4:c.4642C>T

NP_068765.3:p.(R1548W)

BCORL1 NM_021946.4:c.3143G>A

NP_068765.3:p.(R1048Q)

BCORL1 NM_021946.4:c.4464C>T

NP_068765.3:p.(D1488=)

BCORL1 NM_021946.4:c.1111A>C

NP_068765.3:p.(T371P)

BCORL1 NM_021946.4:c.2361A>T

NP_068765.3:p.(P787=)

BCORL1 NM_021946.4:c.643_798dup

NP_068765.3:p.(H215_P266dup)