| | LOC130065401, LOC130065402 +348 more | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +76 more | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +76 more | Copy number loss | See cases | |
| | C20orf96, CSNK2A1 +51 more | Copy number gain | See cases | |
| | LOC130065344, LOC130065345 +455 more | Copy number gain | See cases | |
| | LOC129456123, LOC130065248 +833 more | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +103 more | Copy number loss | See cases | |
| | LOC112694699, LOC112694712 +306 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114004355, LOC116286198 +347 more | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | ANGPT4, C20orf202 +104 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +76 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +102 more | Copy number loss | See cases | |
| | LOC129391148, LOC129391149 +110 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065324, LOC130065325 +581 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +87 more | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +104 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ANGPT4, C20orf202 +120 more | Copy number loss | See cases | |
| | ANGPT4, C20orf202 +100 more | Copy number gain | See cases | |
| | CSNK2A1, LOC116286198 +29 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | CSNK2A1, LOC121852996 +17 more | Copy number loss | Delayed speech and language development +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | CSNK2A1-related neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CSNK2A1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | CSNK2A1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Okur-Chung neurodevelopmental syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +4 more | GPathogenic/Likely pathogenic |