CYFIP2 Chromosome 5
Cytoplasmic FMR1 interacting protein 2
Upload your DNA to see your personal genotypes for variants in CYFIP2.
What This Gene Does
Predicted to enable small GTPase binding activity. Involved in several processes, including cell-cell adhesion; positive regulation of proteolysis; and regulation of postsynapse assembly. Located in perinuclear region of cytoplasm and synapse. Part of SCAR complex. Implicated in developmental and epileptic encephalopathy 65. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
SCAR/WAVE complex
Locus Type
gene with protein product
Location
5q33.3
Ensembl
ENSG00000055163
Associated Conditions (9)
Inborn genetic diseases
Developmental and epileptic encephalopathy
65
CYFIP2-related neurodevelopmental disorders
See cases
Seizure
CYFIP2-related disorder
Global developmental delay
Intellectual disability
Key Variants
RS1010909113
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1201497625
Conflicting classifications of pathogenicity
Health Risk
RS1237477468
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1241752177
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy
Health Risk
RS1445791014
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1478391225
Conflicting classifications of pathogenicity
Health Risk
RS1663188420
Conflicting classifications of pathogenicity
CYFIP2-related neurodevelopmental disorders, CYFIP2-related neurodevelopmental disorders
Health Risk
RS1759029929
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1760439649
Conflicting classifications of pathogenicity
Health Risk
RS1761160732
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 65, Inborn genetic diseases
Health Risk
RS2113041052
Conflicting classifications of pathogenicity
Health Risk
RS2532418568
Conflicting classifications of pathogenicity
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1010909113 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1201497625 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1237477468 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1241752177 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS1445791014 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1478391225 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1663188420 | Health Risk | Conflicting classifications of pathogenicity | CYFIP2-related neurodevelopmental disorders, CYFIP2-related neurodevelopmental disorders |
| RS1759029929 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1760439649 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1761160732 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 65, Inborn genetic diseases |
| RS2113041052 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2532418568 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2532480977 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368093712 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373467559 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376484231 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS549089526 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747475869 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 65, Inborn genetic diseases |
| RS749327820 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS750024153 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750559695 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756207677 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 65, Inborn genetic diseases |
| RS763792787 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS764457342 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS766472184 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767111838 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769467382 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771368440 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780552029 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS971284726 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS987772341 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1131692231 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 65, Seizure |
| RS1156399205 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS1581069148 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS1761011834 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS2113154685 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS2532288306 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 65, Global developmental delay |
| RS2532288408 | Health Risk | Likely pathogenic | — |
| RS2532396959 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS2532418913 | Health Risk | Likely pathogenic | — |
| RS2532430236 | Health Risk | Likely pathogenic | — |
| RS1581069143 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS1760440801 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS1760957806 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 65, Intellectual disability |
| RS1761161860 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS1767193145 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS369858004 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |
| RS1554108163 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 65, Developmental and epileptic encephalopathy |