| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 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 loss | Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome | |
| | | Copy number loss | Aniridia 1 | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126861164, LOC126861165 +49 more | Copy number gain | See cases | |
| | PAX6_HS3, PAX6_HS8 +334 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
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