| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126862063, RCOR1 (T239M) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862064, RCOR1 (D472N) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | LOC130056530, RCOR1 (S95T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130056530, RCOR1 (S53del) | Microsatellite (inframe_deletion) | not provided | |
| | LOC126862063, RCOR1 (R248C) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130056530, RCOR1 (A45T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126862063, RCOR1 (R251W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126862064, RCOR1 (N450S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | LOC130056530, RCOR1 (N66S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |