| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126862279, RBFOX1 (P317S +15 more) | Single nucleotide variant (missense variant +1 more) | RBFOX1-related disorder | |
| | LOC126862279, RBFOX1 (P368Q +1 more) | Single nucleotide variant (synonymous variant +1 more) | Idiopathic generalized epilepsy +1 more | GConflicting classifications of pathogenicity |
| | LOC126862279, RBFOX1 (T370M +1 more) | Single nucleotide variant (synonymous variant +1 more) | Idiopathic generalized epilepsy +1 more | |
| | LOC126862279, RBFOX1 (G353S +3 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Idiopathic generalized epilepsy +2 more | |
Click to view in NCBI Gene