| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC110121445, LOC111365175
+36 more | Deletion | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC129390180, LOC129390181
+1008 more | Copy number gain | See cases | |
| | LOC130004125, LOC130004126
+580 more | Copy number gain | See cases | |
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