| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014. | 25335495 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Hypobetalipoproteinemia and abetalipoproteinemia. | 24751931 | 2014 |
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|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | We report a new case of hypobetalipoproteinemia in a 44-year-old man of Peruvian origin exhibiting a heterozygous PCSK9 missense mutation (c.946 G>T, p. Gly316Cys). | 28711549 | 2018 |
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|
0.010 | GeneticVariation | BEFREE | A novel mutation Y344S was found in ANGPTL3 gene in two diabetic patients with familial hypobetalipoproteinemia. | 25733326 | 2015 |
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|
0.010 | GeneticVariation | BEFREE | Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. | 19344897 | 2009 |
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|
0.010 | GeneticVariation | BEFREE | MTP gene sequence revealed that he was a carrier of the I128T polymorphism and an unreported amino acid substitution (V168I) unlikely to be the cause of hypobetalipoproteinemia. | 14732481 | 2004 |
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|
0.010 | GeneticVariation | BEFREE | MTP gene sequence revealed that he was a carrier of the I128T polymorphism and an unreported amino acid substitution (V168I) unlikely to be the cause of hypobetalipoproteinemia. | 14732481 | 2004 |