Project HERA
ESR1 variants
Every ESR1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
ESR1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
ESR1
NM_001122740.1:c.1163T>A
NP_001116212.1:p.(M388K)
Likely Pathogenic
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ESR1
NM_001122740.1:c.1519C>T
NP_001116212.1:p.(L507F)
VUS
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ESR1
NM_001122740.1:c.970C>A
NP_001116212.1:p.(P324T)
VUS
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ESR1
NM_001122740.1:c.1661G>A
NP_001116212.1:p.(S554N)
VUS
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ESR1
NM_001122740.1:c.1150C>G
NP_001116212.1:p.(L384V)
VUS
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ESR1
NM_001122740.1:c.173C>T
NP_001116212.1:p.(A58V)
VUS
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ESR1
NM_001122740.1:c.1613A>G
NP_001116212.1:p.(D538G)
Likely Pathogenic
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ESR1
NM_001122740.1:c.1610A>G
NP_001116212.1:p.(Y537C)
VUS
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ESR1
NM_001122740.1:c.1235G>A
NP_001116212.1:p.(R412K)
VUS
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