NM_000041.4(APOE):c.69G>A (p.Ala23=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506687.2
Allele description [Variation Report for NM_000041.4(APOE):c.69G>A (p.Ala23=)]
NM_000041.4(APOE):c.69G>A (p.Ala23=)
Condition(s)
- Name:
- Alzheimer disease 3 (AD3)
- Synonyms:
- Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
- Identifiers:
- MONDO: MONDO:0011913; MedGen: C1843013; Orphanet: 1020; OMIM: 607822
- Name:
- Alzheimer disease 2 (AD2)
- Synonyms:
- ALZHEIMER DISEASE 2, LATE-ONSET; ALZHEIMER DISEASE ASSOCIATED WITH APOE4; Alzheimer disease associated with APOE E4; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007089; MedGen: C1863051; Orphanet: 1020; OMIM: 104310
- Name:
- Alzheimer disease 4 (AD4)
- Synonyms:
- Alzheimer disease familial type 4
- Identifiers:
- MONDO: MONDO:0011743; MedGen: C1847200; Orphanet: 1020; OMIM: 606889
- Name:
- Age related macular degeneration 1
- Synonyms:
- MACULOPATHY, AGE-RELATED, 1
- Identifiers:
- MONDO: MONDO:0011285; MedGen: C1864205; OMIM: 603075
- Name:
- Sea-blue histiocyte syndrome
- Synonyms:
- Sea-Blue histiocyte disease; Sea-blue histiocytosis
- Identifiers:
- MONDO: MONDO:0010017; MedGen: C0036489; Orphanet: 158029; OMIM: 269600; Human Phenotype Ontology: HP:0001982
- Name:
- Lipoprotein glomerulopathy (LPG)
- Identifiers:
- MONDO: MONDO:0012725; MedGen: C2673196; Orphanet: 329481; OMIM: 611771
- Name:
- Familial type 3 hyperlipoproteinemia
- Synonyms:
- Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Dysbetalipoproteinemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018473; MedGen: C0020479; OMIM: 617347
Assertion and evidence details
Last Updated: Jun 2, 2024