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1. 遺伝子検査の解釈：βグロビン遺伝子（HBB）のヘモグロビン C（HbC）変異体gene test interpretation hemoglobin c hb c variant in the hemoglobin beta locus hbb [show details]
… and partner testing are appropriate. Hb C trait refers to heterozygosity for the Hb C variant. This is a benign carrier condition that does not require any interventions However, notification of first-degree …
2. 遺伝学：用語集genetics glossary of terms [show details]
…called variant of unknown significance. Likely benign variant – A variant with multiple supporting (but not conclusive) lines of evidence to suggest it is not disease-causing. Benign variant – A variant …
3. ヘイリー・ヘイリー病（良性家族性天疱瘡）hailey hailey disease benign familial pemphigus [show details]
… Pathogenesis – Hailey-Hailey disease (HHD), also called benign familial pemphigus, is a rare, autosomal dominant genodermatosis caused by variants in the ATP2C1 gene, encoding an adenosine triphosphate …
4. 遺伝子検査の解釈：肥大型心筋症遺伝子（MYBPC3, MYH7, TNNT2, TNNI3, MYL2, MYL3, ACTC1, TPM1）gene test interpretation hypertrophic cardiomyopathy genes mybpc3 myh7 tnnt2 tnni3 myl2 myl3 actc1 tpm1 [show details]
…with a genetics expert. As new evidence emerges over time, a variant may be reclassified to a pathogenic variant, VUS, or benign variant. Each patient genetic test results should be reevaluated every …
5. 遺伝子検査の解釈：FBN1 （マルファン症候群遺伝子）gene test interpretation fbn1 marfan syndrome gene [show details]
…tissue disorders where a different definitive pathogenic variant was identified. Most laboratories now consider this to be a likely benign variant or a VUS. Approximately 5 to 10 percent of individuals who …