| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC128772339, LOC130001606 +13 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene