| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Indel (frameshift variant +2 more) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Deletion (frameshift variant +1 more) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | 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 (intron variant) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Single nucleotide variant (missense variant) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication (frameshift variant +1 more) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Copy number loss | See cases | |
| | | Duplication | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |