| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | CD9, LOC112163621
+19 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TNF receptor-associated periodic fever syndrome (TRAPS) +1 more | GConflicting classifications of pathogenicity |
| | LOC130007233, SCNN1A
+1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene