| | | Single nucleotide variant (missense variant) | ANOS1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Amenorrhea | |
| | | Deletion (frameshift variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more | |
| | LOC100287944, POLR3B (R920C +1 more) | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant +1 more) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Microsatellite (frameshift variant +2 more) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | Amenorrhea | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Amenorrhea +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 39 | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 7 with or without anosmia +1 more | |
| | | Single nucleotide variant (missense variant) | Martsolf syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE association +1 more | |
| | | Single nucleotide variant (missense variant) | Amenorrhea +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Amenorrhea | |
| | | Single nucleotide variant (intron variant) | Amenorrhea | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Martsolf syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | HESX1-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mirror movements 1 +1 more | |
| | LOC108281177, SOX2 +1 more | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia +5 more | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Amenorrhea +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 7 with or without anosmia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PROKR2-related condition +4 more | GConflicting classifications of pathogenicity |