Project HERA

PTEN variants

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

82 variants

PTEN variants

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

82 shown
Variant
Protein change
Classification
PTEN NM_000314.8:c.383A>C
NP_000305.3:p.(K128T)
Likely Pathogenic
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PTEN NM_000314.8:c.763_773del
NP_000305.3:p.(V255Pfs*39)
Likely Pathogenic
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PTEN NM_000314.8:c.763_773del
NP_000305.3:p.(V255Pfs*39)
Likely Pathogenic
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PTEN NM_000314.8:c.30_32del
NP_000305.3:p.(S10del)
VUS
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PTEN NM_000314.8:c.155A>T
NP_000305.3:p.(D52V)
VUS
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PTEN NM_000314.8:c.765_801+20delinsC
NP_000305.3:p.?
Likely Pathogenic
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PTEN NM_000314.8:c.538del
NP_000305.3:p.(Y180Tfs*3)
Likely Pathogenic
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PTEN NM_000314.8:c.395G>T
NP_000305.3:p.(G132V)
VUS
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PTEN NM_000314.8:c.129_155del
NP_000305.3:p.(E43_D51del)
VUS
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PTEN NM_000314.8:c.63C>T
NP_000305.3:p.(F21=)
VUS
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PTEN NM_000314.8:c.1027-2A>C
NP_000305.3:p.?
Pathogenic
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PTEN NM_000314.8:c.700_701del
NP_000305.3:p.(R234Gfs*8)
Likely Pathogenic
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PTEN NM_000314.6:c.674_675dup
NP_000305.3:p.(S226Ifs*31)
Likely Pathogenic
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PTEN NM_000314.8:c.775_781del
NP_000305.3:p.(H259Rfs*5)
Likely Pathogenic
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PTEN NM_000314.8:c.197_203del
NP_000305.3:p.(K66Tfs*31)
Likely Pathogenic
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PTEN NM_000314.6:c.95T>G
NP_000305.3:p.(I32S)
VUS
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PTEN NM_000314.8:c.888T>A
NP_000305.3:p.(C296*)
Likely Pathogenic
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PTEN NM_000314.8:c.209T>G
NP_000305.3:p.(L70R)
VUS
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PTEN NM_000314.8:c.46T>G
NP_000305.3:p.(Y16D)
VUS
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PTEN NM_000314.8:c.387_388del
NP_000305.3:p.(R130Nfs*49)
Pathogenic
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PTEN NM_000314.8:c.387_388del
NP_000305.3:p.(R130Nfs*49)
Likely Pathogenic
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PTEN NM_000314.8:c.387_388del
NP_000305.3:p.(R130Nfs*49)
Likely Pathogenic
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PTEN NM_000314.8:c.387_388del
NP_000305.3:p.(R130Nfs*49)
Pathogenic
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PTEN NM_000314.8:c.389_405delinsTAACTGGTGTAATGATG
NP_000305.3:p.(R130_I135delinsLTGVMM)
VUS
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PTEN NM_000314.8:c.405A>G
NP_000305.3:p.(I135M)
Likely Pathogenic
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PTEN NM_000314.8:c.532T>G
NP_000305.3:p.(Y178D)
VUS
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PTEN NM_000314.8:c.1211G>T
NP_000305.3:p.(*404Lext*8)
VUS
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PTEN NM_000314.8:c.923del
NP_000305.3:p.(R308Lfs*9)
Likely Pathogenic
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PTEN NM_000314.8:c.802-3T>A
NP_000305.3:p.?
VUS
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PTEN NM_000314.8:c.413A>G
NP_000305.3:p.(Y138C)
VUS
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PTEN NM_000314.8:c.802-29C>A
NP_000305.3:p.?
VUS
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PTEN NM_000314.8:c.927_937delinsT
NP_000305.3:p.(D310Rfs*4)
Likely Pathogenic
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PTEN NM_000314.8:c.203A>G
NP_000305.3:p.(Y68C)
VUS
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PTEN NM_000314.8:c.951_952del
NP_000305.3:p.(L318Yfs*6)
Likely Pathogenic
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PTEN NM_000314.8:c.106G>C
NP_000305.3:p.(G36R)
Pathogenic
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PTEN NM_000314.8:c.388_389insA
NP_000305.3:p.(R130Qfs*50)
Pathogenic
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PTEN NM_000314.8:c.106G>C
NP_000305.3:p.(G36R)
VUS
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PTEN NM_000314.8:c.324_354del
NP_000305.3:p.(D109Lfs*15)
Likely Pathogenic
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PTEN NM_000314.8:c.-666G>A
NP_000305.3:p.?
Benign
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PTEN NM_000314.8:c.993C>A
NP_000305.3:p.(D331E)
VUS
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PTEN NM_000314.8:c.388C>G
NP_000305.3:p.(R130G)
Likely Pathogenic
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PTEN NM_000314.8:c.844G>T
NP_000305.3:p.(G282*)
Pathogenic
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PTEN NM_000314.6:c.253+1G>A
NP_000305.3:p.?
Pathogenic
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PTEN NM_000314.6:c.33_54del
NP_000305.3:p.(N12Mfs*5)
Likely Pathogenic
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PTEN NM_000314.8:c.368A>G
NP_000305.3:p.(H123R)
Likely Pathogenic
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PTEN NM_000314.8:c.544T>G
NP_000305.3:p.(L182V)
VUS
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PTEN NM_000314.8:c.638C>G
NP_000305.3:p.(P213R)
VUS
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PTEN NM_000314.8:c.492+14dup
NP_000305.3:p.?
Likely Benign
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PTEN NM_000314.8:c.431A>C
NP_000305.3:p.(K144T)
VUS
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PTEN NM_000314.8:c.238A>G
NP_000305.3:p.(K80E)
VUS
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PTEN NM_000314.8:c.210-2A>G
NP_000305.3:p.?
Likely Pathogenic
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PTEN NM_000314.8:c.871_875del
NP_000305.3:p.(E291Wfs*5)
Likely Pathogenic
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PTEN NM_000314.8:c.253+5G>T
NP_000305.3:p.?
VUS
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PTEN NM_000314.8:c.165-7T>C
NP_000305.3:p.?
VUS
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PTEN NM_000314.8:c.143A>C
NP_000305.3:p.(N48T)
VUS
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PTEN NM_000314.8:c.367C>G
NP_000305.3:p.(H123D)
Likely Pathogenic
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PTEN NM_000314.8:c.322C>G
NP_000305.3:p.(L108V)
VUS
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PTEN NM_000314.8:c.449_456del
NP_000305.3:p.(E150Gfs*27)
Likely Pathogenic
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PTEN NM_000314.8:c.-361C>T
NP_000305.3:p.?
VUS
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PTEN NM_000314.8:c.890_899del
NP_000305.3:p.(D297Afs*7)
Likely Pathogenic
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PTEN NM_000314.8:c.416T>G
NP_000305.3:p.(L139*)
Likely Pathogenic
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PTEN NM_000314.8:c.956del
NP_000305.3:p.(T319Ifs*2)
Likely Pathogenic
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PTEN NM_000314.8:c.-307C>G
NP_000305.3:p.?
Likely Benign
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PTEN NM_000314.8:c.570_571delinsT
NP_000305.3:p.(V191Wfs*8)
Likely Pathogenic
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PTEN NM_000314.8:c.263A>G
NP_000305.3:p.(Y88C)
VUS
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PTEN NM_000314.8:c.101_126del
NP_000305.3:p.(A34Gfs*9)
Likely Pathogenic
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PTEN NM_000314.8:c.304A>T
NP_000305.3:p.(K102*)
Likely Pathogenic
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PTEN NM_000314.8:c.434T>G
NP_000305.3:p.(F145C)
VUS
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PTEN NM_000314.8:c.525del
NP_000305.3:p.(Y176Ifs*7)
Likely Pathogenic
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PTEN NM_000314.8:c.898dup
NP_000305.3:p.(I300Nfs*3)
Likely Pathogenic
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PTEN NM_000314.8:c.418_430del
NP_000305.3:p.(L140Nfs*3)
Likely Pathogenic
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PTEN NM_000314.8:c.548del
NP_000305.3:p.(K183Rfs*16)
Likely Pathogenic
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PTEN NM_000314.8:c.743del
NP_000305.3:p.(P248Lfs*8)
Likely Pathogenic
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PTEN NM_000314.8:c.722T>C
NP_000305.3:p.(F241S)
VUS
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PTEN NM_000314.8:c.70G>A
NP_000305.3:p.(D24N)
VUS
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PTEN NM_000314.8:c.634+1G>C
NP_000305.3:p.?
Likely Pathogenic
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PTEN NM_000314.8:c.955_956dup
NP_000305.3:p.(T321*)
Likely Pathogenic
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PTEN NM_000314.8:c.256G>C
NP_000305.3:p.(A86P)
VUS
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PTEN NM_000314.8:c.348del
NP_000305.3:p.(D116Efs*18)
VUS
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PTEN NM_000314.8:c.745G>A
NP_000305.3:p.(V249M)
VUS
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PTEN NM_000314.8:c.253+5G>A
NP_000305.3:p.?
Likely Pathogenic
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PTEN NM_000314.8:c.1027-1G>C
NP_000305.3:p.?
Likely Pathogenic
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