Project HERA
GNAQ variants
Every GNAQ variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
GNAQ variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
GNAQ
NM_002072.5:c.289C>T
NP_002063.2:p.(L97F)
VUS
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GNAQ
NM_002072.4:c.208G>T
NP_002063.2:p.(E70*)
Pathogenic
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GNAQ
NM_002072.5:c.627A>C
NP_002063.2:p.(Q209H)
Likely Pathogenic
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GNAQ
NM_002072.5:c.548G>A
NP_002063.2:p.(R183Q)
Pathogenic
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GNAQ
NM_002072.5:c.626A>T
NP_002063.2:p.(Q209L)
Pathogenic
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