| | EDRF1-AS1, EDRF1-DT +1036 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861107, LOC128598885 +802 more | Copy number gain | See cases | |
| | ABLIM1, ABRAXAS2 +679 more | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +514 more | Copy number gain | See cases | |
| | LOC130004884, LOC130004885 +438 more | Copy number gain | See cases | |
| | LOC130004881, LOC130004882 +418 more | Copy number loss | See cases | |
| | LOC130005014, LOC130005015 +409 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130004911, LOC130004912 +395 more | Copy number loss | See cases | |
| | ABRAXAS2, ACADSB +383 more | Copy number loss | See cases | |
| | LOC130004994, LOC130004995 +361 more | Copy number loss | See cases | |
| | ABRAXAS2, ADAM12 +331 more | Copy number loss | See cases | |
| | ABRAXAS2, ADAM12 +318 more | Copy number loss | See cases | |
| | ABRAXAS2, ADAM12 +318 more | Copy number loss | See cases | |
| | ABRAXAS2, ADAM12 +311 more | Copy number loss | See cases | |
| | ABRAXAS2, ADAM12 +297 more | Copy number loss | See cases | |
| | LOC130005026, LOC130005027 +257 more | Copy number loss | See cases | |
| | LOC126861090, LOC126861091 +250 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126861083, LOC126861084 +201 more | Copy number loss | Duane syndrome type 1 +1 more | |
| | | Copy number loss | See cases | |
| | LOC130005011, LOC130005012 +199 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130004973, LOC130004974 +170 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | EBF3, LOC107984281 +11 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130004974, LOC130004975 +163 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (intron variant) | Intellectual disability | |
| | | 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 +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | Autism spectrum disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | EBF3-related disorder | |
| | | Microsatellite (frameshift variant +1 more) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (intron variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | EBF3-related disorder | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (nonsense) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (synonymous variant) | EBF3-related disorder | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | EBF3-related disorder | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | EBF3-related disorder | |
| | | Microsatellite (frameshift variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Deletion (inframe_indel) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (splice donor variant) | Hypotonia +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | EBF3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EBF3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |