| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806792, LOC126806793 +291 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937339, NDUFB4 (N24S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937339, NDUFB4 (I25V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937339, NDUFB4 (S26F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937339, NDUFB4 (N52K) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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