| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC129937460, LOC129937461 +571 more | Copy number loss | See cases | |
| | LOC129937605, LOC129937606 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Duplication | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Copy number gain | not provided | |
| | ISY1-RAB43, ITGB5 +109 more | Deletion | Alkaptonuria | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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