| - GRCh37:
- Chr19:45412241
- GRCh38:
- Chr19:44908984
| APOE | E230K, E256K | not provided, Lipoprotein glomerulopathy, Alzheimer disease 4,
Alzheimer disease 3, Alzheimer disease 2, Age related macular degeneration 1,
Lipoprotein glomerulopathy, Sea-blue histiocyte syndrome, Familial type 3 hyperlipoproteinemia
| Uncertain significance
(Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45411042
- GRCh38:
- Chr19:44907785
| APOE | | Cardiovascular phenotype, Alzheimer disease 3, Alzheimer disease 2,
Alzheimer disease 4, Lipoprotein glomerulopathy, Age related macular degeneration 1,
Familial type 3 hyperlipoproteinemia, Sea-blue histiocyte syndrome | Likely benign
(Dec 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45412204
- GRCh38:
- Chr19:44908947
| APOE | | Cardiovascular phenotype, Lipoprotein glomerulopathy, Alzheimer disease 4,
Alzheimer disease 3, Alzheimer disease 2, Sea-blue histiocyte syndrome,
Familial type 3 hyperlipoproteinemia, Age related macular degeneration 1, not provided
| Benign/Likely benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45411802
- GRCh38:
- Chr19:44908545
| APOE | | Cardiovascular phenotype, not provided, Alzheimer disease 3,
Alzheimer disease 4, Alzheimer disease 2, Familial type 3 hyperlipoproteinemia,
Age related macular degeneration 1, Sea-blue histiocyte syndrome, Lipoprotein glomerulopathy
| Likely benign
(Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45411987
- GRCh38:
- Chr19:44908730
| APOE | G145D, G171D | Hypercholesterolemia, Alzheimer disease 2, Alzheimer disease 3,
Familial type 3 hyperlipoproteinemia, Age related macular degeneration 1, Lipoprotein glomerulopathy,
Sea-blue histiocyte syndrome, Alzheimer disease 4 | Uncertain significance
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45412358
- GRCh38:
- Chr19:44909101
| APOE | R269G, R295G | Cardiovascular phenotype, Familial type 3 hyperlipoproteinemia, Alzheimer disease 2,
Alzheimer disease 3, Familial type 3 hyperlipoproteinemia, Age related macular degeneration 1,
Lipoprotein glomerulopathy, Sea-blue histiocyte syndrome, Alzheimer disease 4,
not provided | Uncertain significance
(Sep 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45411941
- Chr19:45412358
- GRCh38:
- Chr19:44908684
- Chr19:44909101
| APOE, APOE | C130R, C156R, R269G, R295G | Familial type 3 hyperlipoproteinemia | Pathogenic
(May 1, 1993) | no assertion criteria provided |
| - GRCh37:
- Chr19:45412079
- Chr19:45411987
- GRCh38:
- Chr19:44908822
- Chr19:44908730
| APOE, APOE | R176C, R202C, G145D, G171D | Hyperlipoproteinemia due to APOE1 | Pathogenic
(Apr 1, 1984) | no assertion criteria provided |
| - GRCh37:
- Chr19:45412049-45412051
- GRCh38:
- Chr19:44908792-44908794
| APOE | L167del, L193del | Cardiovascular phenotype, not provided | Pathogenic
(Oct 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45411100
- GRCh38:
- Chr19:44907843
| APOE | R43C, R69C | Lipoprotein glomerulopathy, Familial type 3 hyperlipoproteinemia, Sea-blue histiocyte syndrome,
Lipoprotein glomerulopathy, Age related macular degeneration 1, Alzheimer disease 2,
Alzheimer disease 4, Alzheimer disease 3 | Pathogenic/Likely pathogenic
(Feb 24, 2022) | criteria provided, multiple submitters, no conflicts |