| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007012, LOC130007013 +769 more | Copy number gain | See cases | |
| | LOC126861364, LOC126861365 +764 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 | |
| | | Copy number gain | See cases | |
| | LOC130007028, LOC130007029 +608 more | Duplication | Schizophrenia | |
| | LOC130006995, LOC130006996 +551 more | Copy number loss | See cases | |
| | LOC121832824, LOC124625855 +549 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126861375, LOC126861376 +444 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC121392954, LOC121832822 +312 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CHEK1, LOC118567325 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | CHEK1, LOC118567325 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | CHEK1, LOC118567325 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | CHEK1, LOC118567325 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | CHEK1, LOC118567325 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Oocyte/zygote/embryo maturation arrest 21 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (intron variant) | CHEK1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Duplication (frameshift variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Deletion (intron variant) | CHEK1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | CHEK1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | CHEK1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHEK1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oocyte/zygote/embryo maturation arrest 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Oocyte/zygote/embryo maturation arrest 21 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | | Deletion (frameshift variant +2 more) | Oocyte/zygote/embryo maturation arrest 21 | |
| | | Single nucleotide variant (missense variant +2 more) | Oocyte/zygote/embryo maturation arrest 21 | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |