Project HERA

POLE variants

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

58 variants

POLE variants

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

58 shown

Variant

Protein change

Classification

POLE NM_006231.4:c.2413C>T

NP_006222.2:p.(Q805*)

Likely Pathogenic

POLE NM_006231.4:c.6658-19C>G

NP_006222.2:p.?

POLE NM_006231.4:c.1347G>A

NP_006222.2:p.(T449=)

POLE NM_006231.4:c.4744C>T

NP_006222.2:p.(P1582S)

POLE NM_006231.4:c.2706+5G>A

NP_006222.2:p.?

POLE NM_006231.4:c.5066C>T

NP_006222.2:p.(T1689I)

POLE NM_006231.4:c.122C>T

NP_006222.2:p.(T41M)

POLE NM_006231.4:c.590G>T

NP_006222.2:p.(R197M)

POLE NM_006231.4:c.1794+19G>T

NP_006222.2:p.?

POLE NM_006231.4:c.4275C>T

NP_006222.2:p.(G1425=)

POLE NM_006231.4:c.941C>A

NP_006222.2:p.(S314*)

Likely Pathogenic

POLE NM_006231.4:c.4519_4520del

NP_006222.2:p.(Q1507Afs*37)

Likely Pathogenic

POLE NM_006231.4:c.286-8C>G

NP_006222.2:p.?

POLE NM_006231.4:c.331-30G>A

NP_006222.2:p.?

POLE NM_006231.4:c.3332G>A

NP_006222.2:p.(R1111Q)

POLE NM_006231.4:c.2284C>T

NP_006222.2:p.(R762W)

POLE NM_006231.4:c.2964G>T

NP_006222.2:p.(S988=)

POLE NM_006231.4:c.4501G>A

NP_006222.2:p.(G1501R)

POLE NM_006231.4:c.5811+16T>C

NP_006222.2:p.?

POLE NM_006231.4:c.6766G>A

NP_006222.2:p.(G2256R)

POLE NM_006231.4:c.3459+12G>T

NP_006222.2:p.?

POLE NM_006231.4:c.6531+19G>T

NP_006222.2:p.?

POLE NM_006231.4:c.1360-6C>T

NP_006222.2:p.?

POLE NM_006231.4:c.2561+21G>A

NP_006222.2:p.?

POLE NM_006231.3:c.1763T>C

NP_006222.2:p.(V588A)

POLE NM_006231.4:c.6816G>A

NP_006222.2:p.(E2272=)

POLE NM_006231.4:c.6150C>A

NP_006222.2:p.(F2050L)

POLE NM_006231.4:c.4952+13C>A

NP_006222.2:p.?

POLE NM_006231.4:c.3386A>G

NP_006222.2:p.(D1129G)

POLE NM_006231.4:c.4411C>T

NP_006222.2:p.(R1471C)

POLE NM_006231.4:c.3959G>A

NP_006222.2:p.(R1320Q)

POLE NM_006231.3:c.3799G>A

NP_006222.2:p.(E1267K)

POLE NM_006231.4:c.1270C>A

NP_006222.2:p.(L424I)

Likely Pathogenic

POLE NM_006231.3:c.4189C>A

NP_006222.2:p.(L1397I)

POLE NM_006231.4:c.1871A>C

NP_006222.2:p.(H624P)

POLE NM_006231.4:c.-11C>T

NP_006222.2:p.?

POLE NM_006231.4:c.6330+19G>A

NP_006222.2:p.?

POLE NM_006231.3:c.4735C>T

NP_006222.2:p.(R1579C)

POLE NM_006231.4:c.2468+16_2468+21dup

NP_006222.2:p.?

POLE NM_006231.4:c.6748-18G>A

NP_006222.2:p.?

POLE NM_006231.4:c.6748-18G>A

NP_006222.2:p.?

POLE NM_006231.4:c.6531+4C>T

NP_006222.2:p.?

POLE NM_006231.4:c.2778G>C

NP_006222.2:p.(E926D)

POLE NM_006231.4:c.1708C>A

NP_006222.2:p.(L570M)

POLE NM_006231.4:c.1474-9C>T

NP_006222.2:p.?

POLE NM_006231.4:c.2137G>A

NP_006222.2:p.(E713K)

POLE NM_006231.4:c.2083T>C

NP_006222.2:p.(F695L)

POLE NM_006231.4:c.4952+9A>G

NP_006222.2:p.?

POLE NM_006231.4:c.745C>A

NP_006222.2:p.(R249=)

POLE NM_006231.4:c.2044G>A

NP_006222.2:p.(E682K)

POLE NM_006231.4:c.2172G>A

NP_006222.2:p.(A724=)

POLE NM_006231.4:c.5312C>T

NP_006222.2:p.(T1771M)

POLE NM_006231.4:c.1718G>A

NP_006222.2:p.(R573Q)

POLE NM_006231.4:c.1367C>T

NP_006222.2:p.(A456V)

POLE NM_006231.4:c.6111C>T

NP_006222.2:p.(A2037=)

POLE NM_006231.4:c.889T>C

NP_006222.2:p.(S297P)

POLE NM_006231.4:c.1687-18G>A

NP_006222.2:p.?

POLE NM_006231.4:c.4006-15C>T

NP_006222.2:p.?