| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | LOC126807363, LOC126807364 +518 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC02219, LINC02229 +265 more | Copy number loss | Intellectual disability | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Microsatellite (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Duplication (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Deletion (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Deletion (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Deletion (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Deletion (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Microsatellite (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Microsatellite (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Duplication (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Duplication (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Acrodysostosis 2 with or without hormone resistance | |