| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC105369149, SBF2
+1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +4 more | |
| | LOC101928008, SBF2 (L1098V +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4B2 +3 more | |
| | LOC101928008, SBF2 (G775S +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4B2 +6 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +2 more | |
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