Project HERA
RB1 variants
Every RB1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
RB1 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
RB1
NM_000321.2:c.275_282del
NP_000312.2:p.(I92Kfs*15)
VUS
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RB1
NM_000321.3:c.1390-17T>A
NP_000312.2:p.?
VUS
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RB1
NM_000321.3:c.2165A>G
NP_000312.2:p.(K722R)
VUS
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RB1
NM_000321.3:c.13A>C
NP_000312.2:p.(T5P)
VUS
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RB1
NM_000321.3:c.*1G>C
NP_000312.2:p.?
VUS
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RB1
NM_000321.3:c.1390-17T>A
NP_000312.2:p.?
VUS
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RB1
NM_000321.2:c.1027_1028del
NP_000312.2:p.(L343Sfs*3)
Pathogenic
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RB1
NM_000321.2:c.743G>C
NP_000312.2:p.(G248A)
VUS
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RB1
NM_000321.2:c.2236G>T
NP_000312.2:p.(E746*)
VUS
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RB1
NM_000321.2:c.2341C>T
NP_000312.2:p.(P781S)
VUS
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RB1
NM_000321.2:c.345_351del
NP_000312.2:p.(F115Lfs*8)
Likely Pathogenic
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RB1
NM_000321.2:c.2546_2547del
NP_000312.2:p.(N849Tfs*5)
Likely Pathogenic
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