Project HERA
POLD1 variants
Every POLD1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
POLD1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
POLD1
NM_002691.4:c.927C>T
NP_002682.2:p.(P309=)
VUS
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POLD1
NM_002691.4:c.1275C>T
NP_002682.2:p.(A425=)
Likely Benign
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POLD1
NM_002691.4:c.653G>A
NP_002682.2:p.(R218H)
Likely Benign
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POLD1
NM_002691.4:c.1562G>A
NP_002682.2:p.(R521Q)
VUS
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POLD1
NM_002691.4:c.2959del
NP_002682.2:p.(D987Tfs*58)
Likely Pathogenic
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POLD1
NM_002691.4:c.3068-6C>G
NP_002682.2:p.?
VUS
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POLD1
NM_002691.4:c.187G>A
NP_002682.2:p.(E63K)
VUS
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POLD1
NM_001308632.1:c.845C>T
NP_001295561.1:p.(T282M)
VUS
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POLD1
NM_002691.4:c.2716_2717del
NP_002682.2:p.(R906Dfs*47)
VUS
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POLD1
NM_002691.4:c.2716_2717del
NP_002682.2:p.(R906Dfs*47)
Likely Pathogenic
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POLD1
NM_002691.4:c.376C>A
NP_002682.2:p.(R126S)
VUS
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POLD1
NM_002691.4:c.2518G>A
NP_002682.2:p.(V840M)
VUS
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POLD1
NM_002691.4:c.3046C>T
NP_002682.2:p.(R1016C)
VUS
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POLD1
NM_002691.4:c.1704G>A
NP_002682.2:p.(L568=)
VUS
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POLD1
NM_001308632.1:c.319C>T
NP_001295561.1:p.(P107S)
VUS
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POLD1
NM_002691.4:c.2718-24A>C
NP_002682.2:p.?
Likely Benign
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POLD1
NM_002691.4:c.2915C>T
NP_002682.2:p.(P972L)
VUS
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POLD1
NM_002691.4:c.2041del
NP_002682.2:p.(L681Sfs*13)
Likely Pathogenic
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POLD1
NM_002691.4:c.2953C>T
NP_002682.2:p.(R985W)
VUS
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POLD1
NM_002691.4:c.203-13C>A
NP_002682.2:p.?
VUS
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