Hsu S, Pimenova AA, Hayes K, Villa JA, Rosene MJ, Jere M, Goate AM, Karch CM. Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2. Neurobiol Dis. 2020 Jun;139:104817. Epub 2020 Feb 19 PubMed.

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Mutations

  1. APP E665D
  2. APP A713T
  3. APP A713V
  4. APP H733P
  5. PSEN2 R29H
  6. PSEN2 G34S
  7. PSEN2 R62C
  8. PSEN1 N32N
  9. PSEN1 R35Q
  10. PSEN1 M146V
  11. PSEN1 F175S
  12. PSEN1 V191A
  13. PSEN1 E318G
  14. PSEN1 R358Q
  15. PSEN1 I439V
  16. PSEN2 R62H
  17. PSEN2 R71W
  18. PSEN2 A85V
  19. PSEN2 S130L
  20. PSEN2 V139M
  21. PSEN2 L143H
  22. PSEN2 R163H
  23. PSEN2 M174V
  24. PSEN2 A252T
  25. PSEN2 P334R
  26. PSEN2 V393M
  27. PSEN2 D439A
  28. APP G708G
  29. PSEN2 P69A
  30. PSEN1 D40del (delGAC)
  31. PSEN1 G378fs
  32. PSEN2 E126fs
  33. PSEN1 H163P
  34. PSEN2 V214L
  35. APP K496Q
  36. APP P620L
  37. PSEN1 F176L
  38. PSEN1 I168T
  39. PSEN2 A237V
  40. APP Y538H
  41. APP A201V
  42. APP V562I
  43. APP E599K
  44. PSEN2 I235F
  45. PSEN1 A396T
  46. PSEN1 R108Q
  47. PSEN1 R352C
  48. APP R468H
  49. PSEN2 P334A
  50. PSEN1 T99A
  51. PSEN1 H131R
  52. APP A500T
  53. APP T600M
  54. PSEN2 V101M
  55. PSEN2 L238F
  56. APP E246K
  57. APP A479S
  58. APP D243N
  59. APP A235V
  60. PSEN1 E69D
  61. PSEN1 D40del (delACG)
  62. APP P620A
  63. PSEN2 P123L
  64. PSEN2 K82R
  65. PSEN2 P348L
  66. PSEN2 T18M
  67. PSEN1 M84V
  68. PSEN1 Q127_R128delinsG
  69. PSEN2 T421M
  70. PSEN2 A258V
  71. PSEN2 R284G
  72. APP V340M
  73. APP S614G