Project HERA
SETBP1 variants
Every SETBP1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
SETBP1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
SETBP1
NM_015559.2:c.1150A>G
NP_056374.2:p.(R384G)
VUS
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SETBP1
NM_015559.2:c.575A>G
NP_056374.2:p.(H192R)
VUS
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SETBP1
NM_015559.2:c.2953A>G
NP_056374.2:p.(I985V)
VUS
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SETBP1
NM_015559.2:c.3023G>A
NP_056374.2:p.(R1008H)
VUS
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SETBP1
NM_015559.2:c.1313C>A
NP_056374.2:p.(A438D)
VUS
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