Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:4168364-4168365
- GRCh38:
- Chr19:4168367-4168368
| CREB3L3 | K243fs, K244fs, K245fs | not provided, Hypertriglyceridemia 2 | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:116660952-116660955
- GRCh38:
- Chr11:116790236-116790239
| APOA5 | D332fs | Cardiovascular phenotype, not provided, Familial type 5 hyperlipoproteinemia,
Hypertriglyceridemia 1 | Pathogenic/Likely pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4168351
- GRCh38:
- Chr19:4168354
| CREB3L3 | E238K, E240K, E239K | not provided, Hypertriglyceridemia 1 | Likely pathogenic
(Dec 26, 2021) | criteria provided, multiple submitters, no conflicts |