| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | LOC129994992, LOC129994993 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANKHD1, ANKHD1-DT +377 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129994767, PROB1 +1 more (V584A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994767, PROB1 +1 more (T560I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994767, PROB1 +1 more (T560A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994767, PROB1 +1 more (P559L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129994767, PROB1 +1 more (T550I) | Single nucleotide variant (missense variant) | not specified | |
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