| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4B2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | SBF2, LOC101928008 (Y642* +1 more) | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4B2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4B2 +3 more | |
Click to view in NCBI Gene