Project HERA
GALNT12 variants
Every GALNT12 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
GALNT12 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
GALNT12
NM_024642.5:c.1201C>T
NP_078918.3:p.(R401C)
VUS
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GALNT12
NM_024642.5:c.567T>C
NP_078918.3:p.(N189=)
VUS
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GALNT12
NM_024642.5:c.460C>T
NP_078918.3:p.(R154W)
VUS
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GALNT12
NM_024642.5:c.123T>G
NP_078918.3:p.(R41=)
VUS
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GALNT12
NM_024642.5:c.5G>A
NP_078918.3:p.(W2*)
Likely Pathogenic
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GALNT12
NM_024642.5:c.-28C>T
NP_078918.3:p.?
VUS
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