| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390375, LOC129390376 +764 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130006854, LOC130006855 +499 more | Copy number gain | See cases | |
| | ATP5MG, LOC100131626 (N58S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ATP5MG, LOC100131626 (V79M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Inflammatory bowel disease 28 +5 more | |
| | | Copy number gain | MISSED ABORTION | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Immunodeficiency 18 +4 more | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | | Deletion | Inflammatory bowel disease 28 +3 more | |
| | | Deletion | Neurodevelopmental delay +7 more | |
| | | Copy number gain | not provided | |
| | | Deletion | Long QT syndrome 10 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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