Project HERA

CDK12 variants

Every CDK12 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

8 variants

CDK12 variants

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

8 shown

Variant

Protein change

Classification

CDK12 NM_016507.4:c.162del

NP_057591.2:p.(L55Wfs*2)

Likely Pathogenic

CDK12 NM_016507.4:c.3424T>A

NP_057591.2:p.(S1142T)

CDK12 NM_016507.4:c.1601C>T

NP_057591.2:p.(S534F)

CDK12 NM_016507.4:c.3052G>A

NP_057591.2:p.(D1018N)

CDK12 NM_016507.4:c.2964C>T

NP_057591.2:p.(F988=)

CDK12 NM_016507.4:c.86G>C

NP_057591.2:p.(S29T)

CDK12 NM_016507.4:c.2351G>A

NP_057591.2:p.(R784Q)

CDK12 NM_016507.4:c.4099G>A

NP_057591.2:p.(V1367I)