Project HERA

PMS2 variants

Every PMS2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

27 variants

PMS2 variants

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

27 shown

Variant

Protein change

Classification

PMS2 NM_000535.7:c.903+4T>A

NP_000526.2:p.?

PMS2 NM_000535.7:c.73C>T

NP_000526.2:p.(Q25*)

PMS2 NM_000535.7:c.706-13T>C

NP_000526.2:p.?

PMS2 NM_000535.7:c.1567T>A

NP_000526.2:p.(S523T)

PMS2 NM_000535.7:c.682G>A

NP_000526.2:p.(G228S)

PMS2 NM_000535.7:c.1501G>A

NP_000526.2:p.(V501M)

PMS2 NM_000535.7:c.497T>C

NP_000526.2:p.(L166P)

PMS2 NM_000535.7:c.1145-11C>T

NP_000526.2:p.?

PMS2 NM_000535.7:c.1169C>G

NP_000526.2:p.(A390G)

PMS2 NM_000535.7:c.2515C>T

NP_000526.2:p.(H839Y)

PMS2 NM_000535.6:c.1321G>T

NP_000526.2:p.(E441*)

PMS2 NM_000535.7:c.2186_2187del

NP_000526.2:p.(L729Qfs*6)

PMS2 NM_000535.7:c.86G>C

NP_000526.2:p.(G29A)

PMS2 NM_000535.7:c.2380C>T

NP_000526.2:p.(P794S)

PMS2 NM_000535.7:c.33T>C

NP_000526.2:p.(P11=)

PMS2 NM_000535.7:c.2096A>T

NP_000526.2:p.(D699V)

PMS2 NM_000535.7:c.705+24C>T

NP_000526.2:p.?

PMS2 NM_000535.7:c.736_741delinsTGTGTGTGAAG

NP_000526.2:p.(P246Cfs*3)

PMS2 NM_000535.7:c.830C>A

NP_000526.2:p.(T277K)

PMS2 NM_000535.7:c.14A>T

NP_000526.2:p.(E5V)

PMS2 NM_000535.7:c.2566C>T

NP_000526.2:p.(L856=)

PMS2 NM_000535.7:c.2265C>T

NP_000526.2:p.(I755=)

PMS2 NM_000535.7:c.1128A>C

NP_000526.2:p.(P376=)

PMS2 NM_000535.7:c.1239del

NP_000526.2:p.(D414Tfs*34)

PMS2 NM_000535.7:c.241G>A

NP_000526.2:p.(E81K)

PMS2 NM_000535.7:c.23+32dup

NP_000526.2:p.?

PMS2 NM_000535.7:c.321G>A

NP_000526.2:p.(R107=)