| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SBF2-AS1, LOC105369149
+1 more (S1692P +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | SBF2, SBF2-AS1
+1 more (E1674del +2 more) | Microsatellite (inframe_deletion) | Charcot-Marie-Tooth disease +5 more | GConflicting classifications of pathogenicity |
| | LOC105369149, SBF2
+1 more (R1547K +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
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