Pathogenic variants in NR2F1
| Pathogenic Variant | No. |
|---|---|
| Missense mutation in DNA binding domain of NR2F1 | 9/21 (43%) |
| Deletions (variable including, among others, NR2F1, FAM172AA, KIAA0825) | 4/21 (19%) |
| Translation initiation mutation of NR2F1 | 3/21 (14%) |
| Missense in ligand binding domain or exon 3 of NR2F1 | 3/21 (14%) |
| Frameshift mutation of NR2F1 | 1/21 (5%) |
| Nonsense mutation in exon 3 of NR2F1 | 1/21 (5%) |