| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (no sequence alteration +1 more) | Leprosy, early-onset, susceptibility to | |
| | | Single nucleotide variant (intron variant) | Myocardial infarction, susceptibility to +1 more | |
| | | Single nucleotide variant (missense variant) | LTA-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | LTA-related condition | |
| | | Single nucleotide variant (synonymous variant) | LTA-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Proteasome-associated autoinflammatory syndrome 1 | |
| | | Duplication | not provided | |
| | | Copy number gain | not specified | |
| | | Deletion | Megacolon | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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