| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806798, ZNF148 (D630H +1 more) | Single nucleotide variant (missense variant) | ZNF148-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ZNF148-related disorder | |
| | LOC126806798, ZNF148 (V525M +1 more) | Single nucleotide variant (missense variant) | ZNF148-related disorder | |
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