Project HERA
PTPN11 variants
Every PTPN11 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
PTPN11 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
PTPN11
NM_002834.4:c.1508G>T
NP_002825.3:p.(G503V)
Pathogenic
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PTPN11
NM_002834.4:c.1505C>T
NP_002825.3:p.(S502L)
In progress — classification not generated yet.
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PTPN11
NM_002834.4:c.179G>T
NP_002825.3:p.(G60V)
Likely Pathogenic
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PTPN11
NM_002834.4:c.169C>A
NP_002825.3:p.(Q57K)
VUS
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PTPN11
NM_002834.4:c.200G>A
NP_002825.3:p.(G67E)
VUS
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PTPN11
NM_001330437.1:c.215C>T
NP_001317366.1:p.(A72V)
Pathogenic
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PTPN11
NM_001330437.1:c.1522A>G
NP_001317366.1:p.(M508V)
Likely Pathogenic
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PTPN11
NM_001330437.1:c.417G>C
NP_001317366.1:p.(E139D)
Pathogenic
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PTPN11
NM_001330437.1:c.1052G>A
NP_001317366.1:p.(R351Q)
Benign
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PTPN11
NM_001330437.1:c.188A>G
NP_001317366.1:p.(Y63C)
VUS
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PTPN11
NM_001330437.1:c.53A>G
NP_001317366.1:p.(N18S)
Benign
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PTPN11
NM_001330437.1:c.526-8C>A
NP_001317366.1:p.?
Benign
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PTPN11
NM_001330437.1:c.1221A>G
NP_001317366.1:p.(G407=)
Benign
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PTPN11
NM_001330437.1:c.1542G>C
NP_001317366.1:p.(Q514H)
Likely Pathogenic
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PTPN11
NM_001330437.1:c.782T>A
NP_001317366.1:p.(L261H)
Likely Pathogenic
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PTPN11
NM_001330437.1:c.127C>T
NP_001317366.1:p.(L43F)
VUS
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PTPN11
NM_001330437.1:c.1662G>A
NP_001317366.1:p.(A554=)
Likely Benign
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PTPN11
NM_001330437.1:c.209A>G
NP_001317366.1:p.(K70R)
VUS
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