| | | Deletion (frameshift variant +1 more) | Jackson-Weiss syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (intron variant) | Jackson-Weiss syndrome +11 more | |
| | | Single nucleotide variant (intron variant) | Hartsfield-Bixler-Demyer syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acrocephalosyndactyly type I +11 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (intron variant) | Pfeiffer syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Acrocephalosyndactyly type I +11 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (intron variant) | Hartsfield-Bixler-Demyer syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Beare-Stevenson cutis gyrata syndrome +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pfeiffer syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Acrocephalosyndactyly type I +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalocraniocutaneous lipomatosis +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Levy-Hollister syndrome +11 more | |
| | | Single nucleotide variant (missense variant +2 more) | Jackson-Weiss syndrome +11 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +12 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pfeiffer syndrome +11 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis +11 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Deletion (frameshift variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Beare-Stevenson cutis gyrata syndrome +12 more | |
| | | Indel (intron variant) | Beare-Stevenson cutis gyrata syndrome +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | Beare-Stevenson cutis gyrata syndrome +11 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pfeiffer syndrome +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR2-related craniosynostosis +12 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Encephalocraniocutaneous lipomatosis +7 more | |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Pfeiffer syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Jackson-Weiss syndrome +7 more | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +11 more | |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Pfeiffer syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant) | Jackson-Weiss syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beare-Stevenson cutis gyrata syndrome +11 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acrocephalosyndactyly type I +11 more | |
| | | Deletion (frameshift variant +2 more) | Jackson-Weiss syndrome +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR2-related craniosynostosis +12 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Trigonocephaly 1 +6 more | |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome | |
| | | Single nucleotide variant (missense variant) | Encephalocraniocutaneous lipomatosis +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Acrocephalosyndactyly type I +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acrocephalosyndactyly type I +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (intron variant) | FGFR2-related craniosynostosis +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | FGFR1-related disorder +7 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Craniosynostosis syndrome +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Isolated coronal synostosis +13 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Crouzon syndrome +12 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acrocephalosyndactyly type I +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +11 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +12 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +12 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | FGFR2-related craniosynostosis +11 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | FGFR2-related craniosynostosis +12 more | |
| | | Microsatellite (inframe_deletion) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (intron variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Duplication (frameshift variant +1 more) | not specified +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Beare-Stevenson cutis gyrata syndrome +10 more | |
| | | Single nucleotide variant (missense variant +2 more) | Saethre-Chotzen syndrome +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Acrocephalosyndactyly type I +11 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Acrocephalosyndactyly type I +12 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acrocephalosyndactyly type I +12 more | |
| | | Single nucleotide variant (nonsense +1 more) | Pfeiffer syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Acrocephalosyndactyly type I +11 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |