Project HERA
PHF6 variants
Every PHF6 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
PHF6 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
PHF6
NM_001015877.1:c.859G>C
NP_001015877.1:p.(G287R)
VUS
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PHF6
NM_001015877.1:c.834+53_834+58del
NP_001015877.1:p.?
Likely Benign
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PHF6
NM_001015877.1:c.1003A>T
NP_001015877.1:p.(R335*)
VUS
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PHF6
NM_001015877.1:c.823G>A
NP_001015877.1:p.(G275R)
VUS
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PHF6
NM_001015877.1:c.1000G>T
NP_001015877.1:p.(E334*)
VUS
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