Project HERA
FANCD2 variants
Every FANCD2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
FANCD2 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
FANCD2
NM_033084.4:c.2255T>C
NP_149075.2:p.(I752T)
VUS
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FANCD2
NM_033084.4:c.3560+2T>A
NP_149075.2:p.?
VUS
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FANCD2
NM_033084.4:c.2038G>A
NP_149075.2:p.(V680M)
VUS
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FANCD2
NM_033084.4:c.206-1G>A
NP_149075.2:p.?
Likely Pathogenic
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FANCD2
NM_033084.4:c.70A>G
NP_149075.2:p.(R24G)
VUS
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FANCD2
NM_033084.4:c.266A>G
NP_149075.2:p.(Y89C)
VUS
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