| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861801, LOC126861802 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | CRYL1, EEF1AKMT1 +116 more | Copy number gain | See cases | |
| | LOC130009480, LOC130009481 +488 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009372, LOC130009373 +181 more | Copy number loss | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | LOC130009376, LOC130009377 +620 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009548, LOC130009549 +2024 more | 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 (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) | FGF9-related condition +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 condition | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple synostoses syndrome 3 | |