| | LOC129998085, LOC129998086 +904 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC123956263, LOC123956264 +4737 more | Copy number loss | See cases | |
| | LOC129998210, LOC129998211 +1148 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 loss | See cases | |
| | LOC129997877, LOC129997878 +137 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC03073, LOC106783574 +120 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Thrombocytopenia 8, with dysmorphic features and developmental delay | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder | |
| | | Duplication (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Indel (nonsense) | Developmental malformations-deafness-dystonia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Developmental malformations-deafness-dystonia syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Deletion (inframe_indel +1 more) | Thrombocytopenia 8, with dysmorphic features and developmental delay | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 +2 more | |
| | | 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) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ACTB-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 | |
| | | Duplication (nonsense +1 more) | ACTB-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Thrombocytopenia 8, with dysmorphic features and developmental delay | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Baraitser-Winter syndrome 1 | |
| | | Duplication (splice acceptor variant) | not provided | |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Microsatellite (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Duplication (intron variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Baraitser-Winter syndrome 1 | |