Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene mutation category NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 NIH CDEs
  • ▼ NINDS
    • ▼ Disease
      • ▼ Cerebral Palsy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Duchenne/Becker Muscular Dystrophy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Facioscapulohumeral muscular dystrophy (FSHD)
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Myasthenia Gravis
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Spinal Muscular Atrophy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Domain
      • ▼ Assessments and Examinations
        • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Population
      • Adult
      • Pediatric

# Datatype

UUID: 0fce51c4-20ca-5e08-b6f2-5bf9ec7cd712

Value List

# Permissible value Value meaning name Value meaning definition

UUID: 2f25b4b8-1d11-5a30-9b11-c1282b4b3699

Deletion Deletion Deletion

UUID: cba1431e-e294-5b1c-b9ae-0a57ba999b9a

Duplication Duplication Duplication

UUID: 83f9a97e-1e31-5284-a2d5-c25bf59369d9

Missense Missense Missense

UUID: 5f237cdf-a3f8-5ad3-8c72-325a365e9ff6

Nonsense Nonsense Nonsense

UUID: ab598550-77a6-57ba-8c72-553513513d24

Other, specify Other, specify Other, specify

UUID: 77dd6514-e15e-5ac3-a002-2c1eeb4e06e2

Potential Potential Potential

UUID: fac6eac8-5aa6-505e-8c28-0d223ae7d240

Pseudoexon Pseudoexon Pseudoexon

UUID: 0317d321-4978-5bc7-a20b-804e9f75b3e1

Splice Splice Splice

UUID: c33b38d0-4a10-5f76-be88-c47e96aa939b

Subexonic Insertion/Deletion Subexonic Insertion/Deletion Subexonic Insertion/Deletion

# Definition

UUID: f3314c30-e215-5820-916d-a449924eee81

Category of the mutation detected on the gene

# Designation

UUID: 2a3987b0-1406-5307-8027-9beb9db540c7

Gene mutation category

# Identifier Origin Version

UUID: b51bf9b2-7d8f-5823-af79-c3941fde5dc1

GeneMutationCat BRICS Variable Name N/A

UUID: f631e317-5595-5798-8300-000ef3382774

rG9ryskZeOz NLM CDEs 12-02-2025-download

UUID: a9d2d094-7686-561d-b0b8-078b33df5b8d

C12787 NINDS 3