| | LOC126859666, RNF8 (N281D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126859666, RNF8 (L299V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC126859666, RNF8 (Q303R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126859666, RNF8 (G217R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126859666, RNF8 (T198I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126859666, RNF8 (S157N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126859666, RNF8 (L136V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126859666, RNF8 (N202S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126859666, RNF8 (I132V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number loss | Severe intrauterine growth retardation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |