| | | Copy number gain | See cases | |
| | LOC130064933, LOC130064934 +1093 more | Copy number gain | See cases | |
| | MIR10394, MIR125A +806 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Silver Russell Syndrome-related disorder | |
| | DPRX, LOC121627888 +58 more | Copy number gain | See cases | |
| | DPRX, LOC126862930 +1 more | Deletion | ZNF331 deletion | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (Y99F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (K109I) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862930, ZNF331 (E160Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (N172S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (E188K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (H205R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (E244K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (K306N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (N312S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (T315I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (E328K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (I348T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (S419N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862930, ZNF331 (G423S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126862930, ZNF331 (S463G) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |