Project HERA

POLD1 variants

Every POLD1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

28 variants

POLD1 variants

Newest first. Each row opens the full report, criterion by criterion.

28 shown
Variant
Protein change
Classification
POLD1 NM_002691.4:c.49C>T
NP_002682.2:p.(R17W)
VUS
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POLD1 NM_002691.4:c.2251-23A>G
NP_002682.2:p.?
Benign
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POLD1 NM_002691.4:c.961G>A
NP_002682.2:p.(G321S)
VUS
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POLD1 NM_002691.4:c.353C>T
NP_002682.2:p.(S118F)
VUS
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POLD1 NM_002691.4:c.3218+4T>C
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_002691.4:c.3205G>A
NP_002682.2:p.(V1069I)
VUS
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POLD1 NM_002691.4:c.1681C>T
NP_002682.2:p.(R561W)
VUS
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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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