| | EDRF1-AS1, EDRF1-DT +1036 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861107, LOC128598885 +802 more | Copy number gain | See cases | |
| | ABLIM1, ABRAXAS2 +679 more | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +514 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130004884, LOC130004885 +438 more | Copy number gain | See cases | |
| | LOC130004881, LOC130004882 +418 more | Copy number loss | See cases | |
| | LOC130005014, LOC130005015 +409 more | Copy number loss | See cases | |
| | | Single nucleotide variant | Crouzon syndrome +4 more | |
| | | Deletion (3 prime UTR variant +1 more) | Jackson-Weiss syndrome +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Craniosynostosis syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Saethre-Chotzen syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acrocephalosyndactyly type I +12 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated coronal synostosis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Crouzon syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Crouzon syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Beare-Stevenson cutis gyrata syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Beare-Stevenson cutis gyrata syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated coronal synostosis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Crouzon syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Crouzon syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Craniosynostosis syndrome +4 more | |
| | | Duplication (3 prime UTR variant +1 more) | Craniosynostosis syndrome +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Beare-Stevenson cutis gyrata syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Isolated coronal synostosis +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Jackson-Weiss syndrome +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Craniosynostosis syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Beare-Stevenson cutis gyrata syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Beare-Stevenson cutis gyrata syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | FGFR2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Saethre-Chotzen syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Crouzon syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | FGFR2-related disorder | |
| | | Deletion (3 prime UTR variant +2 more) | Isolated coronal synostosis +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Crouzon syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | FGFR2-related craniosynostosis | |
| | | Deletion (frameshift variant +2 more) | Jackson-Weiss syndrome +11 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (synonymous variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (missense variant +2 more) | Beare-Stevenson cutis gyrata syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | FGFR2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | Beare-Stevenson cutis gyrata syndrome +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis | |
| | | Duplication (frameshift variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (synonymous variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (nonsense +2 more) | Neoplasm | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (synonymous variant +2 more) | FGFR2-related craniosynostosis +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (intron variant) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (intron variant) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (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 | |
| | | Insertion (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (stop lost +1 more) | not specified | |
| | | Duplication (intron variant) | FGFR2-related disorder | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | FGFR2-related craniosynostosis +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR2-related craniosynostosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +12 more | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR2-related craniosynostosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR2-related craniosynostosis | |