Project HERA
NOTCH2 variants
Every NOTCH2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
NOTCH2 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
NOTCH2
NM_024408.3:c.5625del
NP_077719.2:p.(T1876Lfs*54)
Likely Pathogenic
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NOTCH2
NM_024408.3:c.6205C>A
NP_077719.2:p.(P2069T)
VUS
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NOTCH2
NM_024408.3:c.7354C>T
NP_077719.2:p.(Q2452*)
VUS
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NOTCH2
NM_024408.3:c.3570G>C
NP_077719.2:p.(E1190D)
VUS
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NOTCH2
NM_024408.3:c.782T>G
NP_077719.2:p.(I261S)
VUS
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