臨床的意義が高いとされた56バリアント ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

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• Hereditary breast and ovarian cancer
  • BRCA1
  • BRCA2
• Li-Fraumeni syndrome
  • TP53
• Peutz-Jeghers syndeome
  • STK11
• Lynch syndrome
  • MLH1
  • MSH2
  • MSH6
  • PMS2
• Familial adenomatous polyposis
  • APC
• MYH-associated polyposis;adenomas, multiple colorectal, FAP type2l colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
  • MUTYH
• von Hippel-Lindau syndrome
  • VHL
• Multiple endocrine neoplasia type 1
  • MEN1
• Multiple endocrine neoplasia type 2
  • RET
• Familial medullary thyroid cancer
  • RET
• PTEN hamartoma tumor syndrome
  • PTEN
• Retinoblastoma
  • RB1
• Hereditary paraganglioma-pheochromocytoma syndeome
  • SDHD
  • SDHAF2
  • SDHC
  • SDHB
• Tuberous sclerosis comples
  • TSC1
  • TSC2
• WT1-related Wilms tumor
  • WT1
• Neurofibromatosis type 2
  • NF2
• Ehlers-Danlos syndrome, vascular type
  • COL3A1
• Marfan syndromw, Loeys-Dietz syndrome, and familial thoracic aortic aneurysms and dissrctions
  • FBN1
  • TGFRB1
  • TGFRB2
  • SMAD3
  • ACTA2
  • MYLK
  • MYH11
• Hypertrophic cardiomyopathy, dilated cardiomyopathy
  • MYBPC3
  • MYH7
  • TNNT2
  • TNNI3
  • TPM1
  • MYL3
  • ACTC1
  • PRKAG2
  • GLA
  • MYL2
  • LMNA
• Catecholaminergic polymorphic ventricular tachycardia
  • RYR2
• Arrhythmogenic right-ventricular cardiomyopathy
  • PKP2
  • DSP
  • DSC2
  • TMEM43
  • DSG2
• Romano-Ward long QT syndrome types 1, 2 and 4, Burgada syndrome
  • KCNQ1
  • KCNH2
  • SCN5A
• Familial hypercholesterolemia
  • LDLR
  • APOB
  • PCSK9
• Malignant hyperthermia susceptibility
  • RYR1
  • CACNA1S