Project HERA

CHEK2 variants

Every CHEK2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

20 variants

CHEK2 variants

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

20 shown

Variant

Protein change

Classification

CHEK2 NM_007194.4:c.1312G>T

NP_009125.1:p.(D438Y)

CHEK2 NM_007194.4:c.1604G>A

NP_009125.1:p.(R535H)

CHEK2 NM_007194.4:c.1561C>T

NP_009125.1:p.(R521W)

CHEK2 NM_007194.4:c.58C>T

NP_009125.1:p.(Q20*)

CHEK2 NM_007194.4:c.176C>A

NP_009125.1:p.(T59K)

CHEK2 NM_007194.4:c.751A>T

NP_009125.1:p.(I251F)

CHEK2 NM_007194.4:c.400G>C

NP_009125.1:p.(D134H)

CHEK2 NM_007194.4:c.1095+19G>A

NP_009125.1:p.?

CHEK2 NM_007194.4:c.1597A>T

NP_009125.1:p.(T533S)

CHEK2 NM_007194.4:c.1427C>T

NP_009125.1:p.(T476M)

CHEK2 NM_007194.4:c.953G>A

NP_009125.1:p.(R318H)

CHEK2 NM_007194.4:c.1392G>T

NP_009125.1:p.(K464N)

CHEK2 NM_007194.4:c.1513T>A

NP_009125.1:p.(S505T)

CHEK2 NM_007194.4:c.542G>A

NP_009125.1:p.(R181H)

CHEK2 NM_007194.4:c.1376-23G>C

NP_009125.1:p.?

CHEK2 NM_007194.3:c.715G>A

NP_009125.1:p.(E239K)

CHEK2 NM_007194.4:c.906A>C

NP_009125.1:p.(E302D)

CHEK2 NM_007194.4:c.-6-8T>G

NP_009125.1:p.?

CHEK2 NM_007194.4:c.731A>G

NP_009125.1:p.(K244R)

CHEK2 NM_007194.4:c.1375+2T>G

NP_009125.1:p.?

Likely Pathogenic