Project HERA
NOTCH1 variants
Every NOTCH1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
NOTCH1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
NOTCH1
NM_017617.5:c.5885G>A
NP_060087.3:p.(R1962H)
VUS
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NOTCH1
NM_017617.5:c.3225G>A
NP_060087.3:p.(W1075*)
VUS
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NOTCH1
NM_017617.5:c.5081A>G
NP_060087.3:p.(Q1694R)
VUS
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NOTCH1
NM_017617.5:c.1093C>T
NP_060087.3:p.(R365C)
VUS
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NOTCH1
NM_017617.5:c.5353G>T
NP_060087.3:p.(E1785*)
Likely Pathogenic
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