Table 1.
Examples of commonly found MEFV gene variants with respect to their clinical association.
| Benign | Likely benign | VUS | Likely pathogenic | Pathogenic |
|---|---|---|---|---|
| D102D | R75Q | E148Q | S208T | M680IG>C |
| G138G | P115T | P369S | F479L | M680I G>A |
| R202Q | G304R | H478Y | M680L | M694V |
| R314R | A317T | G678E | I692DEL | M694I |
| E474E | A457V | T681I | M694L | V726A |
| D510D | I591M | I720M | K695R | |
| P588P | V690L | V722M | K695N | |
| S675N | I772V | A744S | R761H |
Infevers (2020). MEFV sequence variants [online]. Website https://infevers.umai-montpellier.fr/web/search.php?n=1 [accessed 30 May 2020].