Project HERA
FH variants
Every FH variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
FH variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
FH
NM_000143.4:c.151C>T
NP_000134.2:p.(R51W)
VUS
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FH
NM_000143.4:c.1127A>C
NP_000134.2:p.(Q376P)
VUS
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FH
NM_000143.4:c.817G>A
NP_000134.2:p.(A273T)
Likely Pathogenic
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FH
NM_000143.4:c.364_367del
NP_000134.2:p.(K122Qfs*5)
VUS
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FH
NM_000143.4:c.434C>G
NP_000134.2:p.(S145*)
Pathogenic
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FH
NM_000143.4:c.6C>T
NP_000134.2:p.(Y2=)
VUS
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FH
NM_000143.4:c.301C>T
NP_000134.2:p.(R101*)
Pathogenic
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FH
NM_000143.4:c.143del
NP_000134.2:p.(N48Ifs*5)
Likely Pathogenic
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FH
NM_000143.4:c.1366G>T
NP_000134.2:p.(V456L)
VUS
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