| | LOC130008916, LOC130008917 +4836 more | Copy number gain | See cases | |
| | TRD-GTC2-10, TRD-GTC2-9 +906 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HNF1A, HNF1A-AS1 +786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | 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 | |
| | KDM2B, RNF34 (C62G +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (R98C +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (R138C +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (L143F +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 (R178H +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | KDM2B, RNF34 (S178L +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | KDM2B, RNF34 (S14P +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 (D231E +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (E236D +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 (R279Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (R298Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | KDM2B, RNF34 (E312K +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | KDM2B-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | KDM2B-related disorder | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency disease | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +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 (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (nonsense) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (intron variant) | KDM2B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |