Project HERA
APC variants
Every APC variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
APC variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
APC
NM_001127510.3:c.3374T>C
NP_001120982.1:p.(V1125A)
Benign
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APC
NM_001127510.3:c.2805C>T
NP_001120982.1:p.(Y935=)
Likely Benign
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APC
NM_001127510.3:c.3479C>A
NP_001120982.1:p.(T1160K)
Likely Benign
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APC
NM_001127510.3:c.8511T>C
NP_001120982.1:p.(S2837=)
Likely Benign
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APC
NM_001127510.3:c.295C>T
NP_001120982.1:p.(R99W)
Likely Benign
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APC
NM_001127510.3:c.608A>G
NP_001120982.1:p.(Q203R)
VUS
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APC
NM_001127510.3:c.608A>G
NP_001120982.1:p.(Q203R)
—
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APC
NM_001127511.3:c.3865del
NP_001120983.2:p.(I1289*)
Likely Pathogenic
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APC
NM_001127511.3:c.793C>T
NP_001120983.2:p.(R265*)
Likely Pathogenic
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APC
NM_001127511.3:c.1636C>T
NP_001120983.2:p.(R546*)
Likely Pathogenic
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