| | | Single nucleotide variant (intron 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 (missense 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 (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense 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 (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense 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 (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense 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) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (splice donor 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) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (nonsense +1 more) | Trigonocephaly 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Pfeiffer syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hartsfield-Bixler-Demyer syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hartsfield-Bixler-Demyer syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FGFR1-related disorder +8 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Trigonocephaly 1 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hartsfield-Bixler-Demyer syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hartsfield-Bixler-Demyer syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hartsfield-Bixler-Demyer syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (intron variant) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Trigonocephaly 1 +6 more | |
| | | Single nucleotide variant (synonymous variant) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | Pfeiffer syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Trigonocephaly 1 +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |
| | | Single nucleotide variant (synonymous variant) | Jackson-Weiss syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pfeiffer syndrome +6 more | |
| | | Deletion (frameshift variant +1 more) | Pfeiffer syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +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) | Pfeiffer syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Jackson-Weiss syndrome +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) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Trigonocephaly 1 +7 more | |
| | | Single nucleotide variant (intron variant) | not provided +7 more | |
| | | Single nucleotide variant (intron variant) | not provided +7 more | |
| | | Single nucleotide variant (intron variant +1 more) | Pfeiffer syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +7 more | GConflicting classifications of pathogenicity |
| | | 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 +7 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant) | Trigonocephaly 1 +6 more | |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalocraniocutaneous lipomatosis +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalocraniocutaneous lipomatosis +1 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Single nucleotide variant (missense variant) | Encephalocraniocutaneous lipomatosis +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pfeiffer syndrome +6 more | |
| | | Deletion (frameshift variant) | Encephalocraniocutaneous lipomatosis | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia +7 more | |
| | | Single nucleotide variant (intron variant) | Encephalocraniocutaneous lipomatosis +2 more | GConflicting classifications of pathogenicity |