| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ZNF664, ZNF664-RFLNA +786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009086, LOC130009087 +416 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | SETD1B-related condition | |
| | | Duplication (frameshift variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | SETD1B-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (synonymous variant) | SETD1B-related condition +1 more | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Indel (nonsense) | Intellectual developmental disorder with seizures and language delay | |
| | | Insertion (frameshift variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Inversion (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (synonymous variant) | SETD1B-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (frameshift variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (splice donor variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SETD1B-related condition | |
| | | Single nucleotide variant (missense variant) | SETD1B-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SETD1B-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | SETD1B-related condition | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SETD1B-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SETD1B-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SETD1B-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SETD1B-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | SETD1B-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SETD1B-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | SETD1B-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |