Project HERA

APC variants

Every APC variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

26 variants

APC variants

Newest first. Each row opens the full report, criterion by criterion.

26 shown
Variant
Protein change
Classification
APC NM_001127510.3:c.7594C>T
NP_001120982.1:p.(H2532Y)
Likely Benign
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APC NM_001127510.3:c.3245C>G
NP_001120982.1:p.(T1082S)
Likely Benign
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APC NM_001127510.3:c.4237A>G
NP_001120982.1:p.(M1413V)
Likely Benign
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APC NM_001127511.2:c.78C>A
NP_001120983.2:p.(S26R)
Benign
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APC NM_001127510.3:c.4893T>C
NP_001120982.1:p.(S1631=)
Benign
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APC NM_001127510.3:c.4360A>G
NP_001120982.1:p.(K1454E)
Benign
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APC NM_001127510.3:c.3205A>G
NP_001120982.1:p.(R1069G)
Likely Benign
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APC NM_000038.6:c.2677G>A
NP_000029.2:p.(E893K)
VUS
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APC NM_001127510.3:c.4413A>G
NP_001120982.1:p.(A1471=)
Likely Benign
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APC NM_001127510.3:c.6907G>A
NP_001120982.1:p.(G2303R)
Benign
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APC NM_001127510.3:c.221-29G>C
NP_001120982.1:p.?
Benign
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APC NM_001127510.3:c.6196A>G
NP_001120982.1:p.(R2066G)
Likely Benign
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APC NM_001127510.3:c.-11G>C
NP_001120982.1:p.(=)
VUS
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APC NM_001127510.3:c.6873A>T
NP_001120982.1:p.(Q2291H)
VUS
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APC NM_001127510.3:c.1631T>C
NP_001120982.1:p.(I544T)
Likely Benign
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APC NM_001127510.3:c.4072G>A
NP_001120982.1:p.(A1358T)
Likely Benign
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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)
Not classified
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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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