Project HERA
CTNNB1 variants
Every CTNNB1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
CTNNB1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
CTNNB1
NM_001904.4:c.134C>A
NP_001895.1:p.(S45Y)
VUS
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CTNNB1
NM_001904.4:c.420T>C
NP_001895.1:p.(I140=)
Benign
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CTNNB1
NM_001098209.2:c.674G>A
NP_001091679.1:p.(R225H)
VUS
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CTNNB1
NM_001904.4:c.362A>C
NP_001895.1:p.(N121T)
VUS
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CTNNB1
NM_001098209.2:c.98C>A
NP_001091679.1:p.(S33Y)
Pathogenic
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CTNNB1
NM_001098209.2:c.110C>T
NP_001091679.1:p.(S37F)
Likely Pathogenic
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CTNNB1
NM_001904.4:c.643G>A
NP_001895.1:p.(A215T)
VUS
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CTNNB1
NM_001904.4:c.269G>A
NP_001895.1:p.(R90Q)
VUS
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CTNNB1
NM_001904.4:c.-48-3dup
NP_001895.1:p.?
VUS
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CTNNB1
NM_001904.3:c.101_102delinsTT
NP_001895.1:p.(G34V)
VUS
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CTNNB1
NM_001904.3:c.47C>T
NP_001895.1:p.(P16L)
VUS
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CTNNB1
NM_001098209.2:c.98C>T
NP_001091679.1:p.(S33F)
VUS
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CTNNB1
NM_001904.4:c.802G>T
NP_001895.1:p.(G268*)
Likely Pathogenic
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CTNNB1
NM_001904.4:c.1149G>T
NP_001895.1:p.(W383C)
VUS
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CTNNB1
NM_001904.4:c.1648C>T
NP_001895.1:p.(R550C)
VUS
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CTNNB1
NM_001904.4:c.452G>A
NP_001895.1:p.(R151H)
VUS
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