Project HERA
GBA1 variants
Every GBA1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
GBA1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
GBA1
NM_000157.4:c.1093G>A
NP_000148.2:p.(E365K)
Benign
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GBA1
NM_000157.4:c.1504C>T
NP_000148.2:p.(R502C)
Likely Pathogenic
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GBA1
NM_000157.4:c.1226A>G
NP_000148.2:p.(N409S)
Pathogenic
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GBA1
NM_000157.4:c.1279G>A
NP_000148.2:p.(E427K)
VUS
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GBA1
NM_000157.4:c.1495G>C
NP_000148.2:p.(V499L)
VUS
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