| | LOC126861081, LOC126861082 +1036 more | Copy number gain | See cases | |
| | ABLIM1, ABRAXAS2 +1097 more | Copy number gain | See cases | |
| | LOC130004745, LOC130004746 +802 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +514 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861096, LOC126861097 +438 more | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +418 more | Copy number loss | See cases | |
| | LOC130004871, LOC130004872 +409 more | Copy number loss | See cases | |
| | | Single nucleotide variant | Craniosynostosis syndrome +4 more | |
| | | Deletion (3 prime UTR variant +1 more) | Levy-Hollister syndrome +8 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) | Crouzon syndrome +12 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) | Craniosynostosis syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Craniosynostosis 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) | 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) | Craniosynostosis syndrome +4 more | |
| | | Duplication (3 prime UTR variant +1 more) | Levy-Hollister 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) | Crouzon syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Levy-Hollister syndrome +8 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Crouzon syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Saethre-Chotzen syndrome +5 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) | FGFR2-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | FGFR2-related condition +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | FGFR2-related condition | |
| | | Deletion (3 prime UTR variant +2 more) | Levy-Hollister syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Beare-Stevenson cutis gyrata 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) | FGFR2-related craniosynostosis +11 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (missense variant +2 more) | Beare-Stevenson cutis gyrata syndrome +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) | FGFR2-related craniosynostosis +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | FGFR2-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | FGFR2-related craniosynostosis +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +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 (missense variant +2 more) | FGFR2-related craniosynostosis | |
| | | Single nucleotide variant (synonymous variant +2 more) | FGFR2-related craniosynostosis +2 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 (intron variant +1 more) | not provided | |
| | | Duplication (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 (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 (intron 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 condition | |
| | | 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 +6 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 | |
| | | 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) | FGFR2-related craniosynostosis +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 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |