Project HERA
CBL variants
Every CBL variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
CBL variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
CBL
NM_005188.3:c.1240C>A
NP_005179.2:p.(Q414K)
VUS
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CBL
NM_005188.3:c.1096-1G>T
NP_005179.2:p.?
Pathogenic
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CBL
NM_005188.3:c.1096-1_1096delinsTT
NP_005179.2:p.?
Likely Pathogenic
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CBL
NM_005188.3:c.1147A>C
NP_005179.2:p.(I383L)
VUS
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CBL
NM_005188.3:c.1147A>G
NP_005179.2:p.(I383V)
VUS
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