Project HERA
MYCN variants
Every MYCN variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
MYCN variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
MYCN
NM_005378.5:c.926G>T
NP_005369.2:p.(G309V)
VUS
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MYCN
NM_005378.5:c.868A>G
NP_005369.2:p.(N290D)
VUS
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MYCN
NM_005378.5:c.368G>T
NP_005369.2:p.(R123L)
VUS
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MYCN
NM_005378.6:c.1069C>T
NP_005369.2:p.(R357C)
VUS
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MYCN
NM_005378.6:c.553G>A
NP_005369.2:p.(E185K)
VUS
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MYCN
NM_005378.5:c.1340T>C
NP_005369.2:p.(L447S)
VUS
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MYCN
NM_005378.6:c.865_867del
NP_005369.2:p.(S289del)
VUS
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