Helix portfolio
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| Gene | Variant | Description | Prediction | |
|---|---|---|---|---|
 |
HDAC8 | p.His201Tyr |
This report was generated for an academic hospital in the Netherlands.
The variant in question does not have any literature available for the exact protein
and it is not documented in gnomAD. Using Helix we found literature from homologous
proteins that show a high likelihood of pathogenicity, consistent with the prediction.
Read report » |
Pathogenic |
 |
BRCA1 | p.Ile1723Val | Read report » | Benign |
 |
BRCA1 | p.Thr1720Ala | Read report » | Benign |
 |
BRCA1 | p.Met1775Lys | Read report » | Pathogenic |
 |
ATM | p.Met1040Val | Read report » | Benign |
|
BRAF | p.Val600Glu | Read report » | Pathogenic |