Project HERA
TSC1 variants
Every TSC1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
TSC1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
TSC1
NM_000368.5:c.163C>T
NP_000359.1:p.(Q55*)
Likely Pathogenic
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TSC1
NM_000368.5:c.2865C>T
NP_000359.1:p.(T955=)
Benign
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TSC1
NM_000368.4:c.1022C>T
NP_000359.1:p.(P341L)
Likely Benign
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TSC1
NM_000368.4:c.2209-1G>C
NP_000359.1:p.?
VUS
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TSC1
NM_000368.4:c.3106G>A
NP_000359.1:p.(G1036R)
VUS
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TSC1
NM_000368.4:c.2215C>T
NP_000359.1:p.(Q739*)
Pathogenic
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TSC1
NM_000368.4:c.682C>T
NP_000359.1:p.(R228*)
Pathogenic
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TSC1
NM_000368.4:c.1801C>A
NP_000359.1:p.(P601T)
VUS
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TSC1
NM_000368.5:c.2194C>T
NP_000359.1:p.(H732Y)
Likely Benign
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TSC1
NM_000368.5:c.1438+6G>A
NP_000359.1:p.?
VUS
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