Project HERA
PRPF8 variants
Every PRPF8 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
PRPF8 variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
PRPF8
NM_006445.3:c.4792G>A
NP_006436.3:p.(D1598N)
VUS
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PRPF8
NM_006445.3:c.4639-17T>G
NP_006436.3:p.?
Benign
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PRPF8
NM_006445.3:c.3081A>T
NP_006436.3:p.(S1027=)
VUS
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PRPF8
NM_006445.3:c.2013A>G
NP_006436.3:p.(T671=)
VUS
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PRPF8
NM_006445.3:c.2631G>A
NP_006436.3:p.(A877=)
Likely Benign
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PRPF8
NM_006445.3:c.1855-13C>T
NP_006436.3:p.?
Benign
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PRPF8
NM_006445.3:c.6247C>T
NP_006436.3:p.(L2083=)
Likely Benign
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PRPF8
NM_006445.3:c.6247C>T
NP_006436.3:p.(L2083=)
Not classified
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PRPF8
NM_006445.3:c.3299+14T>C
NP_006436.3:p.?
Not classified
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PRPF8
NM_006445.3:c.2631G>A
NP_006436.3:p.(A877=)
Not classified
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PRPF8
NM_006445.3:c.1929C>T
NP_006436.3:p.(G643=)
Not classified
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PRPF8
NM_006445.3:c.1855-13C>T
NP_006436.3:p.?
Not classified
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PRPF8
NM_006445.3:c.1666C>T
NP_006436.3:p.(L556=)
Likely Benign
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PRPF8
NM_006445.3:c.6854-4G>A
NP_006436.3:p.?
Benign
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PRPF8
NM_006445.3:c.4775A>C
NP_006436.3:p.(D1592A)
VUS
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PRPF8
NM_006445.3:c.3775-14del
NP_006436.3:p.?
Likely Benign
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PRPF8
NM_006445.3:c.3775-14del
NP_006436.3:p.?
Likely Benign
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PRPF8
NM_006445.3:c.5352C>T
NP_006436.3:p.(N1784=)
Likely Benign
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PRPF8
NM_006445.3:c.471T>C
NP_006436.3:p.(D157=)
Likely Benign
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PRPF8
NM_006445.3:c.2409G>A
NP_006436.3:p.(A803=)
Benign
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