| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | LOC125146383, LOC125146384 +556 more | Copy number gain | See cases | |
| | LOC105371046, LOC105371050 +842 more | Copy number gain | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | LOC130058149, LOC130058150 +925 more | Copy number gain | See cases | |
| | LOC130058276, LOC130058277 +148 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Microsatellite (frameshift variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | THOC6-related condition | |
| | | Deletion (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | THOC6-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | THOC6-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (nonsense) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (intron variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | THOC6-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (splice donor variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | 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) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant +1 more) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | THOC6-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | THOC6-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Idiopathic generalized epilepsy +3 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
| | | Copy number gain | not provided | |