| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FBXW7, FBXW7-AS1 (L166F +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental delay, hypotonia, and impaired language | |
| | | Deletion (frameshift variant) | Developmental delay, hypotonia, and impaired language | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, and impaired language | |
| | | Duplication (frameshift variant) | Developmental delay, hypotonia, and impaired language | |
| | | Insertion (frameshift variant) | Developmental delay, hypotonia, and impaired language | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, and impaired language | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, and impaired language | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, and impaired language +1 more | |
| | | Single nucleotide variant (missense variant) | Pervasive developmental disorder | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, and impaired language | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Developmental delay, hypotonia, and impaired language | |
Click to view in NCBI Gene