| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ALOX5AP, LOC126861725 (T55I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Diaphragmatic hernia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009480, LOC130009481 +488 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861732, LOC126861733 +213 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009376, LOC130009377 +620 more | Copy number gain | See cases | |
| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | RBM26-AS1, RCBTB1 +1004 more | Copy number gain | See cases | |
| | LOC130009548, LOC130009549 +2024 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861801, LOC126861802 +2047 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009757, LOC130009758 +780 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
Click to view in NCBI Gene