Project HERA

STK11 variants

Every STK11 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

15 variants

STK11 variants

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

15 shown

Variant

Protein change

Classification

STK11 NM_000455.4:c.369G>A

NP_000446.1:p.(Q123=)

STK11 NM_000455.5:c.920+12C>T

NP_000446.1:p.?

STK11 NM_000455.5:c.388G>T

NP_000446.1:p.(E130*)

STK11 NM_000455.5:c.249G>A

NP_000446.1:p.(K83=)

STK11 NM_000455.5:c.*9G>A

NP_000446.1:p.?

STK11 NM_000455.4:c.717G>C

NP_000446.1:p.(W239C)

Likely Pathogenic

STK11 NM_000455.5:c.1226G>A

NP_000446.1:p.(R409Q)

STK11 NM_000455.5:c.129_141del

NP_000446.1:p.(K44Sfs*3)

Likely Pathogenic

STK11 NM_000455.4:c.539_571delinsTGGTAGGGTGGCACCTC

NP_000446.1:p.(G180Vfs*102)

STK11 NM_000455.5:c.580G>C

NP_000446.1:p.(D194H)

STK11 NM_000455.5:c.112C>G

NP_000446.1:p.(P38A)

STK11 NM_000455.5:c.734+17C>G

NP_000446.1:p.?

STK11 NM_000455.5:c.49C>G

NP_000446.1:p.(L17V)

STK11 NM_000455.5:c.*16+7C>T

NP_000446.1:p.?

STK11 NM_000455.5:c.22C>G

NP_000446.1:p.(Q8E)