| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | SLC17A9, TNFRSF6B +50 more | Duplication | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 | Developmental and epileptic encephalopathy, 33 +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 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +177 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066340, LOC130066341 +244 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +230 more | Copy number loss | See cases | |
| | LOC130066376, LOC130066377 +464 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABHD16B, ARFGAP1 +181 more | Copy number loss | See cases | |
| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | LOC132090595, LOC132090596 +355 more | Copy number gain | See cases | |
| | LOC130066394, LOC130066395 +177 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +248 more | Copy number loss | See cases | |
| | LOC125387319, LOC125387320 +1024 more | Copy number gain | See cases | |
| | ABHD16B, ARFGAP1 +249 more | Copy number loss | See cases | |