Project HERA

RUNX1 variants

Every RUNX1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

23 variants

RUNX1 variants

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

23 shown
Variant
Protein change
Classification
RUNX1 NM_001754.4:c.707dup
NP_001745.2:p.(M236Ifs*25)
Pathogenic
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RUNX1 NM_001754.4:c.560C>T
NP_001745.2:p.(A187V)
VUS
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RUNX1 NM_001754.4:c.714C>A
NP_001745.2:p.(V238=)
VUS
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RUNX1 NM_001754.4:c.1270T>G
NP_001745.2:p.(S424A)
Benign
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RUNX1 NM_001754.4:c.1265A>C
NP_001745.2:p.(E422A)
Benign
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RUNX1 NM_001754.4:c.1252A>T
NP_001745.2:p.(M418L)
Benign
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RUNX1 NM_001001890.2:c.30C>T
NP_001001890.1:p.(S10=)
VUS
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RUNX1 NM_001001890.2:c.624C>T
NP_001001890.1:p.(A208=)
VUS
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RUNX1 NM_001001890.2:c.590G>A
NP_001001890.1:p.(R197Q)
VUS
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RUNX1 NM_001001890.2:c.569G>A
NP_001001890.1:p.(G190E)
VUS
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RUNX1 NM_001001890.2:c.342_346del
NP_001001890.1:p.(L117Kfs*14)
Pathogenic
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RUNX1 NM_001001890.2:c.1132C>G
NP_001001890.1:p.(L378V)
VUS
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RUNX1 NM_001001890.2:c.319_323del
NP_001001890.1:p.(A107Qfs*2)
Pathogenic
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RUNX1 NM_001001890.2:c.1036T>G
NP_001001890.1:p.(S346A)
VUS
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RUNX1 NM_001001890.2:c.393T>C
NP_001001890.1:p.(F131=)
Likely Benign
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RUNX1 NM_001001890.2:c.1094A>C
NP_001001890.1:p.(Q365P)
VUS
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RUNX1 NM_001001890.2:c.1332_1334delinsG
NP_001001890.1:p.(L445Gfs*127)
Likely Pathogenic
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RUNX1 NM_001001890.2:c.556C>G
NP_001001890.1:p.(Q186E)
VUS
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RUNX1 NM_001001890.2:c.1113C>T
NP_001001890.1:p.(A371=)
Likely Benign
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RUNX1 NM_001001890.2:c.619A>G
NP_001001890.1:p.(T207A)
VUS
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RUNX1 NM_001754.4:c.444C>T
NP_001745.2:p.(T148=)
Likely Benign
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RUNX1 NM_001754.4:c.617dup
NP_001745.2:p.(H206Qfs*7)
Pathogenic
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RUNX1 NM_001754.4:c.529_551dup
NP_001745.2:p.(Q185Sfs*34)
Pathogenic
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