| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932493, LOC129932494 +1325 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932930, LOC129932931 +967 more | Copy number gain | See cases | |
| | LOC129932702, LOC129932703 +954 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932675, LOC129932676 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806063, LOC126806064 +378 more | Copy number loss | See cases | |
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | ARID4B, B3GALNT2 +162 more | Deletion | Immunodeficiency, common variable, 14 | |
| | | Copy number gain | See cases | |
| | LOC129932908, LOC129932909 +270 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | LYST-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | LYST-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (synonymous variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Duplication (intron variant) | Chédiak-Higashi syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not specified +3 more | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (intron variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (intron variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (intron variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (intron variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (intron variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (intron variant) | Chédiak-Higashi syndrome | |
| | | Deletion (intron variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Chédiak-Higashi syndrome | |