| | | Single nucleotide variant (splice donor variant) | Hypogonadotropic hypogonadism 16 with or without anosmia | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Duplication | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (intron variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (intron variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (intron variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (intron variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 16 with or without anosmia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Duplication (inframe_insertion +1 more) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (nonsense) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Inversion (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Inversion (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |