| | LOC126861081, LOC126861082 +1036 more | Copy number gain | See cases | |
| | ABLIM1, ABRAXAS2 +1097 more | Copy number gain | See cases | |
| | LOC130004745, LOC130004746 +802 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +514 more | Copy number gain | See cases | |
| | LOC126861096, LOC126861097 +438 more | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +418 more | Copy number loss | See cases | |
| | LOC130004871, LOC130004872 +409 more | Copy number loss | See cases | |
| | LOC130004930, LOC130004931 +399 more | Copy number loss | See cases | |
| | LOC110120892, LOC110120898 +395 more | Copy number loss | See cases | |
| | ABRAXAS2, ACADSB +383 more | Copy number loss | See cases | |
| | ABRAXAS2, ACADSB +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 | |
| | LOC132089760, LOC132089761 +318 more | Copy number loss | See cases | |
| | LOC110120928, LOC110121444 +311 more | Copy number loss | See cases | |
| | EDRF1, EDRF1-AS1 +297 more | Copy number loss | See cases | |
| | ABRAXAS2, ADAM12 +257 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Hypotonia, ataxia, and delayed development syndrome +1 more | |
| | | Copy number loss | See cases | |
| | LOC130005036, LOC132089757 +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 | |
| | LOC130005028, LOC130005029 +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 | |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | EBF3-related condition +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | Autism spectrum disorder | |
| | | Deletion (frameshift variant +1 more) | EBF3-related condition | |
| | | Microsatellite (frameshift variant +1 more) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Hypotonia, ataxia, and delayed development syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (intron variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | EBF3-related condition | |
| | | 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 condition | |
| | | 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) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | EBF3-related condition | |
| | | Single nucleotide variant (nonsense) | EBF3-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | EBF3-related condition | |
| | | 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) | 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 condition | |
| | | Single nucleotide variant (synonymous variant) | EBF3-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (nonsense) | See cases | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (synonymous variant) | EBF3-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |