Project HERA
ASXL1 variants
Every ASXL1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
ASXL1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
ASXL1
NM_015338.5:c.2148dup
NP_056153.2:p.(R717*)
VUS
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ASXL1
NM_015338.5:c.2694G>A
NP_056153.2:p.(W898*)
VUS
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ASXL1
NM_015338.5:c.2281G>A
NP_056153.2:p.(A761T)
VUS
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ASXL1
NM_015338.5:c.3802A>G
NP_056153.2:p.(T1268A)
VUS
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ASXL1
NM_015338.5:c.2822del
NP_056153.2:p.(P941Lfs*4)
Likely Pathogenic
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