Project HERA
NF2 variants
Every NF2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
NF2 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
NF2
NM_000268.3:c.778G>T
NP_000259.1:p.(E260*)
VUS
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NF2
NM_000268.3:c.958C>T
NP_000259.1:p.(Q320*)
VUS
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NF2
NM_000268.3:c.1249A>T
NP_000259.1:p.(I417F)
VUS
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NF2
NM_000268.3:c.863C>G
NP_000259.1:p.(S288*)
Likely Pathogenic
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NF2
NM_000268.3:c.363+1G>C
NP_000259.1:p.?
VUS
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NF2
NM_000268.3:c.604G>T
NP_000259.1:p.(E202*)
Pathogenic
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NF2
NM_000268.3:c.1035G>A
NP_000259.1:p.(M345I)
Likely Benign
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NF2
NM_000268.3:c.316G>T
NP_000259.1:p.(E106*)
Pathogenic
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NF2
NM_000268.3:c.1408C>G
NP_000259.1:p.(Q470E)
VUS
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