Project HERA
MUTYH variants
Every MUTYH variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
MUTYH variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
MUTYH
NM_001128425.2:c.714C>T
NP_001121897.1:p.(N238=)
VUS
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MUTYH
NM_001128425.2:c.1187G>A
NP_001121897.1:p.(G396D)
Likely Pathogenic
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MUTYH
NM_001128425.2:c.309G>A
NP_001121897.1:p.(W103*)
Likely Pathogenic
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MUTYH
NM_001128425.2:c.1276C>T
NP_001121897.1:p.(R426C)
VUS
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MUTYH
NM_001128425.2:c.1476+2C>T
NP_001121897.1:p.?
VUS
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MUTYH
NM_001128425.2:c.505G>A
NP_001121897.1:p.(E169K)
VUS
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MUTYH
NM_001128425.2:c.1186+17C>T
NP_001121897.1:p.?
VUS
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MUTYH
NM_001128425.2:c.505-4A>G
NP_001121897.1:p.?
Likely Benign
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MUTYH
NM_001128425.2:c.53C>T
NP_001121897.1:p.(P18L)
Likely Benign
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MUTYH
NM_001128425.2:c.74G>A
NP_001121897.1:p.(G25D)
Likely Benign
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MUTYH
NM_001128425.2:c.1585C>A
NP_001121897.1:p.(L529M)
Likely Benign
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MUTYH
NM_001128425.2:c.42C>T
NP_001121897.1:p.(I14=)
VUS
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MUTYH
NM_001128425.2:c.925C>T
NP_001121897.1:p.(R309C)
VUS
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MUTYH
NM_001128425.2:c.925C>T
NP_001121897.1:p.(R309C)
VUS
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MUTYH
NM_001128425.2:c.1465G>A
NP_001121897.1:p.(A489T)
VUS
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MUTYH
NM_001128425.2:c.690+12G>T
NP_001121897.1:p.?
Likely Benign
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MUTYH
NM_001128425.2:c.1255G>A
NP_001121897.1:p.(A419T)
VUS
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MUTYH
NM_001048171.1:c.995C>T
NP_001041636.1:p.(S332L)
VUS
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