| | | Single nucleotide variant (5 prime UTR variant +1 more) | RUBCN-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Diamond-Blackfan anemia 5 | |
| | | Copy number gain | not provided | |
| | | Duplication (frameshift variant) | Spinocerebellar ataxia type 15/16 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Microsatellite (frameshift variant +1 more) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | RUBCN-related disorder | |
| | | Single nucleotide variant (missense variant) | RUBCN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RUBCN-related disorder | |
| | | Single nucleotide variant (intron variant) | RUBCN-related disorder | |
| | | Single nucleotide variant (missense variant) | RUBCN-related disorder | |
| | | Single nucleotide variant (intron variant) | RUBCN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RUBCN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Isolated anorectal malformation | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 15 | |
| | | Copy number gain | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 3q28q29 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 15 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |