| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (missense variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (missense variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (missense variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (missense variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (missense variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Single nucleotide variant (synonymous variant) | ZNF512B-related condition | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | SLC17A9, TNFRSF6B +50 more | Duplication | Early infantile epileptic encephalopathy with suppression bursts +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 (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 | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 7 +1 more | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 7 +1 more | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 7 +1 more | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 7 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |