| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiac, facial, and digital anomalies with developmental delay | |
| | | Single nucleotide variant (missense variant) | Cardiac, facial, and digital anomalies with developmental delay | |
| | | Single nucleotide variant (missense variant) | Cardiac, facial, and digital anomalies with developmental delay | |
| | | Single nucleotide variant (missense variant) | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome +1 more | GConflicting classifications of pathogenicity |
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