Project HERA
EZH2 variants
Every EZH2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
EZH2 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
EZH2
NM_004456.4:c.1851G>A
NP_004447.2:p.(K617=)
VUS
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EZH2
NM_004456.4:c.1852-9A>C
NP_004447.2:p.?
Likely Benign
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EZH2
NM_004456.4:c.1966G>A
NP_004447.2:p.(A656T)
VUS
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EZH2
NM_004456.5:c.1937A>T
NP_004447.2:p.(Y646F)
Likely Pathogenic
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EZH2
NM_004456.4:c.1797G>A
NP_004447.2:p.(W599*)
Likely Pathogenic
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