Hyperlipidemia, familial combined, LPL related: genes and variants
Hyperlipidemia, familial combined, LPL related is linked to 1 analyzed protein (LPL). 18 DNA variants are known to cause it; 21 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 Hyperlipidemia, familial combined, LPL related
LPL: Lipoprotein lipase
It hydrolyzes triglycerides in circulating chylomicrons and very-low-density lipoproteins so tissues can take up released fatty acids. Severe biallelic loss causes familial chylomicronemia, while common variation strongly influences triglyceride levels and cardiovascular risk.
18 disease-causing and 21 uncertain variants in LPL are linked to Hyperlipidemia, familial combined, LPL related.
Known disease-causing variants in Hyperlipidemia, familial combined, LPL related
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LPL R270C | 270 | Disease-causing (★★) | |
| LPL M1I | 1 | Disease-causing (★★) | |
| LPL W113R | 113 | Disease-causing (★★) | |
| LPL H268Y | 268 | Disease-causing (★★) | |
| LPL M328I | 328 | Disease-causing (★★) | |
| LPL A98T | 98 | Disease-causing (★★) | |
| LPL D183N | 183 | Disease-causing (★★) | |
| LPL G215E | 215 | Disease-causing (★★) | |
| LPL P234L | 234 | Disease-causing (★★) | |
| LPL I252T | 252 | Essential for determining substrate specificity | Disease-causing (★★) |
| LPL D277N | 277 | Disease-causing (★★) | |
| LPL L279V | 279 | Disease-causing (★★) | |
| LPL C302R | 302 | Disease-causing (★) | |
| LPL D231N | 231 | Disease-causing (★) | |
| LPL C310Y | 310 | Disease-causing (★) | |
| LPL A361T | 361 | PLAT | Disease-causing (★) |
| LPL G436R | 436 | PLAT | Disease-causing (★) |
| LPL R197H | 197 | Disease-causing |
Same protein, different disease
- Hyperlipoproteinemia is also caused by LPL variants; they fall partly in the same places as the Hyperlipidemia, familial combined, LPL related variants (44 disease-causing).
Diseases related to Hyperlipidemia, familial combined, LPL related
- Type 2 diabetes mellitus, also linked to LPL
- Hyperlipoproteinemia, also linked to LPL
- Myocardial infarction, also linked to LPL
Frequently asked questions
Which genes are linked to Hyperlipidemia, familial combined, LPL related?
In CATVariant, Hyperlipidemia, familial combined, LPL related is linked to 1 analyzed protein: LPL (Lipoprotein lipase).
How many genetic variants are linked to Hyperlipidemia, familial combined, LPL related?
40 variants: 18 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 21 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hyperlipidemia, familial combined, LPL related 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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