| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | 14q22.2q24.3 duplication | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GPHB5, LOC112268140 +29 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130055802, LOC130055803 +12 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090233, LOC132090234 +264 more | Copy number loss | See cases | |
Click to view in NCBI Gene