Project HERA
PIK3R1 variants
Every PIK3R1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
PIK3R1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
PIK3R1
NM_181523.2:c.1126G>A
NP_852664.1:p.(G376R)
VUS
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PIK3R1
NM_181523.2:c.1350_1374del
NP_852664.1:p.(H450Qfs*22)
Likely Pathogenic
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PIK3R1
NM_181523.2:c.1355A>G
NP_852664.1:p.(Y452C)
VUS
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PIK3R1
NM_181523.2:c.1585_1587del
NP_852664.1:p.(D529del)
VUS
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PIK3R1
NM_181523.2:c.1042del
NP_852664.1:p.(R348Efs*25)
Likely Pathogenic
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PIK3R1
NM_181523.2:c.2079A>T
NP_852664.1:p.(E693D)
VUS
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PIK3R1
NM_181523.2:c.1011T>G
NP_852664.1:p.(D337E)
VUS
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PIK3R1
NM_181523.2:c.310A>G
NP_852664.1:p.(T104A)
VUS
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PIK3R1
NM_181523.2:c.1345_1347del
NP_852664.1:p.(L449del)
VUS
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