| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Single nucleotide variant (splice donor variant) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene