Ultrarare variants shared by the affected exome or genome-sequenced individuals
| Genomic location | Effect in transcript 1 | Protein effect | Gene/Protein name | Segregation | Protein effect prediction* |
| NC_000001.10:g.223983870C>G | NM_005426.2:c.1984G>C | NP_005417.1:p.(Val662Leu) | Tumour protein p53 binding protein 2 (TP53BP2) | No | Benign |
| NC_000005.9:g.170305249dup | NM_022897.4:c.165+2dup | NP_075048.1:p.? | RAN binding protein 17 (RANBP17) | No | Uncertain (splice site insertion) |
| NC_000009.11:g.6880032A>G | NM_015061.4:c.650A>G | NP_055876.2:p.(His217Arg) | Lysine (K)-specific demethylase 4C (KDM4C) | Yes | Pathogenic |
| NC_000012.11:g.124915216C>T | NM_006312.5:c.1000G>A | NP_006303.4:p.(Glu334Lys) | Nuclear receptor corepressor 2 (NCOR2) | No | Pathogenic |
*Protein effect prediction is based on multiple prediction tools used in VarSome search engine. Pathogenic=the majority of tools give damaging/pathogenic/deleterious prediction.