| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | Autosomal recessive nonsyndromic hearing loss 1B +3 more | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | LOC130009372, LOC130009373 +181 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | CRYL1, EEF1AKMT1 +116 more | Copy number gain | See cases | |
| | LOC130009480, LOC130009481 +488 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009376, LOC130009377 +620 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 | |
Click to view in NCBI Gene