| | LINC02522, LINC02525 +823 more | Copy number gain | See cases | |
| | LOC132089500, LOC132090749 +641 more | Copy number gain | See cases | |
| | LOC129995714, LOC129995715 +777 more | Copy number gain | See cases | |
| | LOC129995520, LOC129995521 +610 more | Copy number loss | See cases | |
| | LOC121106426, LOC121113497 +557 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02521, LINC02522 +508 more | Copy number gain | See cases | |
| | LOC129995778, LOC129995779 +571 more | Copy number gain | See cases | |
| | LOC129995630, LOC129995631 +536 more | Copy number gain | See cases | |
| | LOC129389446, LOC129389447 +617 more | Copy number loss | See cases | |
| | LOC129995913, LOC129995914 +1340 more | Copy number gain | 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 | |
| | | Deletion (frameshift variant +1 more) | Neurodevelopmental abnormality | |
| | | Single nucleotide variant (stop lost) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (synonymous variant) | TFAP2A-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Branchiooculofacial syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | TFAP2A-related condition | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Hypertelorism +13 more | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Branchiooculofacial syndrome +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (splice donor variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (splice donor variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Indel (inframe_indel) | Branchiooculofacial syndrome | |
| | TFAP2A, TFAP2A-AS2 (P271fs +2 more) | Deletion (frameshift variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (synonymous variant) | Branchiooculofacial syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | TFAP2A-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more (R249W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC121740638, TFAP2A +1 more (R251G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more (R248Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC121740638, TFAP2A +1 more (R248W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (R248G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |