Hypoalphalipoproteinemia, primary, 2, intermediate: genes and variants
Hypoalphalipoproteinemia, primary, 2, intermediate is linked to 1 analyzed protein (APOA1). 1 DNA variants are known to cause it; 18 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hypoalphalipoproteinemia, primary, 2, intermediate
APOA1: Apolipoprotein A-I
It is the principal protein scaffold of HDL and activates LCAT, supporting cholesterol efflux from peripheral tissues and reverse cholesterol transport. Pathogenic variants can cause very low HDL cholesterol, familial amyloidosis in some alleles, or altered cardiovascular risk.
1 disease-causing and 18 uncertain variants in APOA1 are linked to Hypoalphalipoproteinemia, primary, 2, intermediate.
Known disease-causing variants in Hypoalphalipoproteinemia, primary, 2, intermediate
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| APOA1 G50R | 50 | Disease-causing (★★) |
Same protein, different disease
- Familial amyloid polyneuropathy, Iowa type is also caused by APOA1 variants; they fall mostly in different places as the Hypoalphalipoproteinemia, primary, 2, intermediate variants (5 disease-causing).
- Hypoalphalipoproteinemia, primary, 1 is also caused by APOA1 variants; they fall mostly in different places as the Hypoalphalipoproteinemia, primary, 2, intermediate variants (4 disease-causing).
Diseases related to Hypoalphalipoproteinemia, primary, 2, intermediate
- Hypoalphalipoproteinemia, primary, 1, also linked to APOA1
- Familial amyloid polyneuropathy, Iowa type, also linked to APOA1
- Familial visceral amyloidosis, Ostertag type, also linked to APOA1
Frequently asked questions
Which genes are linked to Hypoalphalipoproteinemia, primary, 2, intermediate?
In CATVariant, Hypoalphalipoproteinemia, primary, 2, intermediate is linked to 1 analyzed protein: APOA1 (Apolipoprotein A-I).
How many genetic variants are linked to Hypoalphalipoproteinemia, primary, 2, intermediate?
35 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 18 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypoalphalipoproteinemia, primary, 2, intermediate look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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