| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC132088675, LOC132088682 +1585 more | Copy number gain | See cases | |
| | ADAM15, ADAM15-EFNA4 +297 more | Copy number gain | See cases | |
| | LOC129931527, LOC129931528 +91 more | Copy number loss | See cases | |
| | ADAM15, ADAM15-EFNA4 +67 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more | |
| | | Duplication | Paragangliomas 3 +2 more | |
| | | Copy number gain | not provided | |
| | | Inversion | Pediatric metastatic thyroid tumour | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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