Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. Epub 2015 Mar 5 PubMed.

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Mutations

  1. APOE Loss of Function Variants
  2. PSEN1 Y256S
  3. PSEN1 V261L
  4. PSEN1 V261F
  5. PSEN1 C263R
  6. PSEN1 C263F
  7. PSEN1 P264L
  8. PSEN1 G266S
  9. PSEN1 P267S
  10. PSEN1 P267L
  11. PSEN1 R269G
  12. PSEN1 R269H
  13. PSEN1 L271V
  14. PSEN1 V272A
  15. PSEN1 E273A
  16. PSEN1 T274R
  17. PSEN1 R278K
  18. PSEN1 R278T
  19. PSEN1 A275V
  20. PSEN1 F105C
  21. PSEN1 L262V
  22. PSEN1 E273G
  23. PSEN1 A246P
  24. PSEN1 P267A
  25. PSEN1 L262S
  26. PSEN1 A360T
  27. PSEN1 T119I
  28. PSEN1 G111V
  29. PSEN1 I227V
  30. PSEN1 R42L
  31. PSEN1 P303L
  32. PSEN1 Q15H
  33. PSEN1 N39Y
  34. PSEN1 V261I
  35. PSEN1 V272D
  36. PSEN1 A260G
  37. PSEN1 F177V
  38. PSEN2 P436L
  39. PSEN1 G378R
  40. PSEN2 G117Ter
  41. PSEN2 I146T
  42. PSEN2 S147N
  43. PSEN2 H220Y
  44. PSEN2 I368F
  45. PSEN2 L79P
  46. PSEN2 C65Y
  47. PSEN2 T388M
  48. APOE R163C
  49. APOE W228Ter
  50. PSEN1 I414T
  51. PSEN1 P264S
  52. APP K687N (A>C)
  53. PSEN1 L235dup