| | KDM2B, RNF34 (R13G +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (A35T +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (V251E +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (T101A +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (D335G +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (V89I +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Deletion | not provided | |
| | | Duplication | Deficiency of butyryl-CoA dehydrogenase | |
| | KDM2B, RNF34 (E312K +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (A277S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (D230E +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (S178L +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (M9V +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (A54T +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | KDM2B, RNF34 (L143F +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (R279Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | KDM2B, RNF34 (C62G +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (R298Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (R138C +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (E236D +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (R98C +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (C149Y +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (D231E +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (S14P +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | KDM2B, RNF34 (R178H +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | SLC15A5, SLC16A7 +1006 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009126, LOC130009127 +906 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009192, LOC130009193 +892 more | Copy number gain | See cases | |
| | LOC130008976, LOC130008977 +264 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090050, LOC132090051 +786 more | Copy number gain | See cases | |