| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130001411, RECQL4 (T51P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130001411, RECQL4 (K49Q) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC130001411, RECQL4 (Y45F) | Single nucleotide variant (missense variant) | Baller-Gerold syndrome +1 more | |
| | LOC130001411, RECQL4 (D29E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130001411, RECQL4 (E9K) | Single nucleotide variant (missense variant) | Baller-Gerold syndrome +4 more | GConflicting classifications of pathogenicity |
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