Project HERA
SF3B1 variants
Every SF3B1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
SF3B1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
SF3B1
NM_012433.3:c.2469G>A
NP_036565.2:p.(M823I)
VUS
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SF3B1
NM_012433.3:c.2098A>G
NP_036565.2:p.(K700E)
Likely Pathogenic
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SF3B1
NM_012433.3:c.2352G>A
NP_036565.2:p.(M784I)
VUS
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SF3B1
NM_012433.3:c.1874G>T
NP_036565.2:p.(R625L)
VUS
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SF3B1
NM_012433.2:c.2359del
NP_036565.2:p.(I787Lfs*3)
Likely Pathogenic
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SF3B1
NM_012433.3:c.2263C>T
NP_036565.2:p.(P755S)
VUS
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SF3B1
NM_012433.3:c.1873C>A
NP_036565.2:p.(R625S)
VUS
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SF3B1
NM_012433.4:c.1986C>A
NP_036565.2:p.(H662Q)
VUS
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SF3B1
NM_012433.2:c.1876A>G
NP_036565.2:p.(N626D)
VUS
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SF3B1
NM_012433.2:c.1873C>T
NP_036565.2:p.(R625C)
VUS
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SF3B1
NM_012433.2:c.1866G>T
NP_036565.2:p.(E622D)
VUS
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SF3B1
NM_012433.2:c.1986C>A
NP_036565.2:p.(H662Q)
VUS
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