| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1HH | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy +4 more | |
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy 6 +3 more | |
| | ABLIM1, ABRAXAS2
+146 more | Copy number gain | not provided | |
| | | Copy number loss | Distal 10q deletion syndrome | |
Click to view in NCBI Gene