| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC105370829, LOC108281154 +179 more | Inversion | Aromatase excess syndrome | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Griscelli syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Deletion (3 prime UTR variant) | Griscelli syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Insertion (3 prime UTR variant) | Griscelli syndrome | |
| | | Indel (3 prime UTR variant) | Griscelli syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Duplication (3 prime UTR variant) | Griscelli syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Deletion (frameshift variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (synonymous variant) | Griscelli syndrome type 2 | |
| | | Duplication (frameshift variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (synonymous variant) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (synonymous variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (synonymous variant) | Griscelli syndrome type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |