| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ADH1A, LOC100507053 +1 more (D50E) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Copy number loss | Chromosome 4q21 deletion syndrome | |
| | ADH1A, LOC100507053 +1 more (G72S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC129992850, LOC129992851 +123 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene