| | LOC121466733, LOC121468000 +2048 more | Copy number loss | See cases | |
| | LOC130010147, LOC130010148 +2049 more | Copy number gain | See cases | |
| | LOC130009360, LOC130009361 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009909, LOC130009910 +2044 more | Copy number gain | See cases | |
| | LINC00333, LINC00343 +2045 more | Copy number gain | See cases | |
| | CRYL1, EEF1AKMT1 +116 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2040 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC121838573, LOC121838574 +2028 more | Copy number gain | See cases | |
| | LOC130009528, LOC130009529 +620 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00462, LINC00463 +2021 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Duplication (5 prime UTR variant) | Symphalangism-brachydactyly syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Deletion (5 prime UTR variant) | Symphalangism-brachydactyly syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Duplication (5 prime UTR variant) | Symphalangism-brachydactyly syndrome | |
| | | Duplication (5 prime UTR variant) | Symphalangism-brachydactyly syndrome | |
| | | Insertion (5 prime UTR variant) | Symphalangism-brachydactyly syndrome | |
| | | Duplication (5 prime UTR variant) | Symphalangism-brachydactyly syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple synostoses syndrome 3 | |
| | | Duplication (5 prime UTR variant) | Symphalangism-brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Multiple synostoses syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Multiple synostoses syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Inversion (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Multiple synostoses syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | FGF9-related disorder | |