| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (intron variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +2 more | |
| | | Single nucleotide variant (nonsense) | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence | |
| | | Duplication | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (intron variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Septo-optic dysplasia sequence +1 more | |
| | | Microsatellite (frameshift variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (intron variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (nonsense) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (intron variant) | Septo-optic dysplasia sequence +1 more | |
| | | Duplication (intron variant) | Septo-optic dysplasia sequence +1 more | |
| | | Deletion (frameshift variant +1 more) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Deletion (intron variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (intron variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (intron variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +1 more | |
| | | Copy number gain | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +2 more | |
| | | Single nucleotide variant (nonsense) | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (splice donor variant) | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Indel (missense variant +1 more) | Growth hormone deficiency with pituitary anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (nonsense) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +2 more | |
| | | Deletion (frameshift variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (intron variant) | Growth hormone deficiency with pituitary anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Septo-optic dysplasia sequence +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Septo-optic dysplasia sequence +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (5 prime UTR variant) | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (intron variant) | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (synonymous variant) | Growth hormone deficiency with pituitary anomalies +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Male infertility with spermatogenesis disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +1 more | |
| | | | Septo-optic dysplasia sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (intron variant) | Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more | |
| | | Deletion (intron variant) | Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +2 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence +4 more | |
| | | Single nucleotide variant (missense variant) | HESX1-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Septo-optic dysplasia sequence +3 more | GConflicting classifications of pathogenicity |
| | LOC108281177, SOX2 +1 more (N24fs) | Deletion (frameshift variant) | SOX2-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +2 more | |
| | | Deletion (frameshift variant +1 more) | Septo-optic dysplasia sequence | |
| | | Microsatellite (frameshift variant) | Septo-optic dysplasia sequence | |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Growth hormone deficiency with pituitary anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Septo-optic dysplasia sequence | |