| | | 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) | not specified | |
| | | Duplication | Cataract 15 multiple types +3 more | |
| | | 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) | 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) | 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 (5 prime UTR variant +1 more) | GLI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | GLI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | GLI1-related disorder | |
| | | Single nucleotide variant (missense variant) | GLI1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron 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) | 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) | not provided +1 more | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication | Familial melanoma | |
| | | 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) | 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) | 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) | 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) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Polydactyly, postaxial, type A8 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Preaxial hand polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Polydactyly, postaxial, type A8 +3 more | |
| | | Single nucleotide variant (missense variant) | Polydactyly, postaxial, type A8 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Polydactyly, postaxial, type A8 | |
| | | Single nucleotide variant (nonsense) | Polydactyly, postaxial, type A8 | |
| | | Single nucleotide variant (missense variant) | Premature ovarian failure | |
| | | Deletion (frameshift variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GLI1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | GLI1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | GLI1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | GLI1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | GLI1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | GLI1-related disorder +1 more | |