Project HERA

PPM1D variants

Every PPM1D variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

13 variants

PPM1D variants

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

13 shown

Variant

Protein change

Classification

PPM1D NM_003620.3:c.1570del

NP_003611.1:p.(Q524Kfs*15)

PPM1D NM_003620.3:c.1260+4T>C

NP_003611.1:p.?

PPM1D NM_003620.3:c.1525G>C

NP_003611.1:p.(D509H)

PPM1D NM_003620.3:c.1535del

NP_003611.1:p.(N512Ifs*2)

Likely Pathogenic

PPM1D NM_003620.3:c.1384C>T

NP_003611.1:p.(Q462*)

In progress — classification not generated yet.

PPM1D NM_003620.3:c.1384C>T

NP_003611.1:p.(Q462*)

Likely Pathogenic

PPM1D NM_003620.3:c.1473dup

NP_003611.1:p.(N492*)

Likely Pathogenic

PPM1D NM_003620.3:c.1473dup

NP_003611.1:p.(N492*)

PPM1D NM_003620.3:c.1473dup

NP_003611.1:p.(N492*)

PPM1D NM_003620.3:c.1384C>T

NP_003611.1:p.(Q462*)

Likely Pathogenic

PPM1D NM_003620.3:c.1619del

NP_003611.1:p.(E540Gfs*7)

PPM1D NM_003620.3:c.1613del

NP_003611.1:p.(L538*)

Likely Pathogenic

PPM1D NM_003620.3:c.1440del

NP_003611.1:p.(A481Pfs*2)