Project HERA
ARID1A variants
Every ARID1A variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
ARID1A variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
ARID1A
NM_006015.5:c.782C>A
NP_006006.3:p.(S261*)
Likely Pathogenic
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ARID1A
NM_006015.5:c.673C>T
NP_006006.3:p.(P225S)
VUS
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ARID1A
NM_006015.5:c.1217_1229dup
NP_006006.3:p.(P411Tfs*216)
Likely Pathogenic
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ARID1A
NM_006015.5:c.2297A>T
NP_006006.3:p.(Q766L)
VUS
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ARID1A
NM_006015.5:c.2378_2396del
NP_006006.3:p.(M793Rfs*34)
Pathogenic
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