| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | LOC125387319, LOC125387320 +1024 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066376, LOC130066377 +464 more | Copy number gain | See cases | |
| | LOC132090595, LOC132090596 +355 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABHD16B, ARFGAP1 +249 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +248 more | Copy number loss | See cases | |
| | LOC130066340, LOC130066341 +244 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +230 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +181 more | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +177 more | Copy number gain | See cases | |
| | LOC130066394, LOC130066395 +177 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ABHD16B, C20orf181 +63 more | Copy number gain | See cases | |
| | LOC112268269, ABHD16B (V7M) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC112268269, ABHD16B (V38M) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC112268269, ABHD16B (G42A) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (S46G) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (R48W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (R48Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (A53V) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (L67P) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (Q96P) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC112268269, ABHD16B (T120M) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (R121C) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (G130S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (R142G) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (G182V) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (P192L) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (A195T) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (H218Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (H232Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (D269E) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (N300S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (R319S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (S326G) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (N342S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (R355S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (V368I) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC112268269, ABHD16B (R388G) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (A403E) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (G419R) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (R434W) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (R435C) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (R444L) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ABHD16B, LOC112268269 (P460S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | SLC17A9, TNFRSF6B +50 more | Duplication | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | 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 | |
| | | Copy number gain | not provided | |
| | | Duplication | Developmental and epileptic encephalopathy, 33 +1 more | |
| | | Copy number loss | not provided | |
| | | Duplication | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 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 | |