Project HERA
DNMT3A variants
Every DNMT3A variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
DNMT3A variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
DNMT3A
NM_022552.4:c.1055G>A
NP_072046.2:p.(S352N)
VUS
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DNMT3A
NM_022552.4:c.2322+3A>G
NP_072046.2:p.?
VUS
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DNMT3A
NM_022552.4:c.1555-13C>A
NP_072046.2:p.?
VUS
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DNMT3A
NM_022552.4:c.1256del
NP_072046.2:p.(P419Lfs*232)
VUS
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DNMT3A
NM_022552.4:c.1154del
NP_072046.2:p.(P385Rfs*22)
Likely Pathogenic
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DNMT3A
NM_022552.4:c.2395C>T
NP_072046.2:p.(P799S)
VUS
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DNMT3A
NM_022552.4:c.977G>T
NP_072046.2:p.(R326L)
—
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DNMT3A
NM_022552.4:c.1312dup
NP_072046.2:p.(D438Gfs*7)
Likely Pathogenic
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DNMT3A
NM_022552.4:c.856-59_1014+13dup
NP_072046.2:p.?
VUS
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DNMT3A
NM_022552.4:c.1475-19C>T
NP_072046.2:p.?
VUS
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DNMT3A
NM_022552.4:c.2116G>C
NP_072046.2:p.(G706R)
VUS
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