| | | Single nucleotide variant (splice donor variant) | Oculofaciocardiodental syndrome | |
| | | Deletion (frameshift variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (S158T) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Deletion (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Deletion (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Duplication (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (nonsense) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (intron variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (V436I) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (intron variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (intron variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (intron variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (D420E) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (intron variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (E519D) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (intron variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (L345H) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (M265V) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Deletion (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Indel (frameshift variant +2 more) | Oculofaciocardiodental syndrome | |
| | | Deletion (inframe_deletion) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (A275fs) | Duplication (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (intron variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Duplication (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Deletion (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (R188Q) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (R342G) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (A330V) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | GConflicting classifications of pathogenicity |
| | BCOR, LOC126863239 (R411W) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Duplication (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (W509*) | Single nucleotide variant (nonsense) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (nonsense) | Oculofaciocardiodental syndrome | |
| | | Duplication (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Deletion (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (nonsense) | Oculofaciocardiodental syndrome | |
| | | Deletion (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Indel (splice acceptor variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Deletion | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (intron variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (I148V) | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (nonsense) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (K412fs) | Deletion (frameshift variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | BCOR, LOC126863239 (Q308*) | Single nucleotide variant (nonsense) | Oculofaciocardiodental syndrome | |
| | | Duplication (intron variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (synonymous variant) | Oculofaciocardiodental syndrome | |