| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | |
| | FBXW4, LOC130004563 (A158P) | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | FBXW4, LOC130004563 (V154E) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | FBXW4, LOC130004563 (A147D) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Split hand-foot malformation 3 +1 more | |
| | | Copy number gain | See cases | |
| | ABLIM1, ABRAXAS2 +201 more | Copy number gain | See cases | |
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