| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Microsatellite (splice acceptor variant +1 more) | APH1A-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more | |
| | | Duplication | Congenital neutropenia-myelofibrosis-nephromegaly syndrome | |
| | | Duplication | Gastrointestinal stromal tumor +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | ADAMTSL4, ADAMTSL4-AS1 +37 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
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