| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | A-GAMMA3'E, ANO9 +388 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130005164, LOC130005165 +332 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Thalassemia, gamma-delta-beta | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Microsatellite (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Deletion (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | MIR675-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related disorder | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Deletion | Wilms tumor 2 +1 more | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (genic upstream transcript variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (genic upstream transcript variant) | Beckwith-Wiedemann syndrome | |
| | | Copy number gain | Wilms tumor 2 | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (genic upstream transcript variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Single nucleotide variant (intron variant) | H19-related disorder | |
| | | Duplication | Beckwith-Wiedemann syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Russell-Silver syndrome | |
| | | Duplication | Autosomal recessive DOPA responsive dystonia | |
| | | Duplication | not provided | |
| | | Duplication | Neuronal ceroid lipofuscinosis | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Beckwith-Wiedemann syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication | Immunodeficiency 39 +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Silver-Russell syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Duplication | Neuronal ceroid lipofuscinosis | |
| | | Copy number gain | not provided | |
| | C11orf40, C11orf42 +243 more | Copy number gain | Silver-Russell syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |