| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129934355, LOC129934356 +348 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | C2orf49, C2orf49-DT +205 more | Copy number gain | See cases | |
| | C2orf49, C2orf49-DT +176 more | Copy number gain | See cases | |
| | C2orf49, C2orf49-DT +111 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | TMEM182, C2orf49 +113 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Ascending aortic dissection | |
| | | Single nucleotide variant (intron variant) | Ascending aortic dissection | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +2 more) | Chronic recurrent multifocal osteomyelitis 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Ascending aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | IL1R1, IL1R1-AS1 (K104E +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (I320V +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (I104T +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (L162S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IL1R1, IL1R1-AS1 (C259S +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | IL1R1, IL1R1-AS1 (E255D +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (D246A +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (R331C +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (R331L +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (R398Q +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (R308Q +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (S516P +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | IL1R1, IL1R1-AS1 (K528fs +4 more) | Deletion (frameshift variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | C2orf15, C2orf49 +122 more | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |