| | | Duplication | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C11orf42, MRGPRG +210 more | Copy number gain | Russell-Silver syndrome | |
| | LOC130005112, TOLLIP (P11R) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | Autosomal recessive DOPA responsive dystonia | |
| | | Duplication | not provided | |
| | LOC130005112, TOLLIP (R9H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130005112, TOLLIP (T3I) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Interstitial lung disease 2 +2 more | GUncertain significance; association |
| | | Single nucleotide variant (intron variant) | Chronic obstructive pulmonary disease +1 more | |
| | | 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 | |
| | | Duplication | Neuronal ceroid lipofuscinosis | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | Silver-Russell syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |
| | LOC130005114, LOC130005115 +204 more | Copy number gain | See cases | |
| | LOC111718490, LOC112067719 +388 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130005104, LOC130005105 +271 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BGLT3, A-GAMMA3'E +328 more | Deletion | Thalassemia, gamma-delta-beta | |