| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | 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) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | CHST6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CHST6-related disorder | |
| | | Single nucleotide variant (missense variant) | CHST6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Indel (nonsense) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Joubert syndrome 20 +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 | |
| | | 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 (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 (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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Deletion (inframe_deletion) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Duplication (frameshift variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | Macular corneal dystrophy | |
| | | Copy number gain | Syndromic anorectal malformation | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Deletion | Macular corneal dystrophy | |
| | | Deletion | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | GPathogenic/Likely pathogenic |
| | | Indel (nonsense) | Macular corneal dystrophy | GPathogenic/Likely pathogenic |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Macular corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Indel (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |