Project HERA
FBXW7 variants
Every FBXW7 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
FBXW7 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
FBXW7
NM_033632.3:c.608C>T
NP_361014.1:p.(S203L)
VUS
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FBXW7
NM_033632.3:c.1436G>A
NP_361014.1:p.(R479Q)
Likely Pathogenic
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FBXW7
NM_033632.3:c.1436G>T
NP_361014.1:p.(R479L)
Likely Pathogenic
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FBXW7
NM_033632.3:c.1514G>T
NP_361014.1:p.(R505L)
VUS
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FBXW7
NM_033632.3:c.1394G>A
NP_361014.1:p.(R465H)
Likely Pathogenic
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FBXW7
NM_033632.3:c.1922C>G
NP_361014.1:p.(S641*)
Likely Pathogenic
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FBXW7
NM_033632.3:c.1697G>T
NP_361014.1:p.(W566L)
VUS
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FBXW7
NM_033632.3:c.1697G>T
NP_361014.1:p.(W566L)
VUS
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