| | | Single nucleotide variant (missense variant) | TFAP2A-related disorder | |
| | | Single nucleotide variant (missense variant) | TFAP2A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | TFAP2A-related disorder | |
| | LOC121740638, TFAP2A +1 more (V199fs +2 more) | Indel (non-coding transcript variant +1 more) | TFAP2A-related disorder | |
| | LOC121740638, TFAP2A +1 more (R231G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | not provided | |
| | LOC121740638, TFAP2A +1 more (F205L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (nonsense) | TFAP2A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TFAP2A-related disorder | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | TFAP2A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC121740638, TFAP2A +1 more (P173S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | TFAP2A, TFAP2A-AS2 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous 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 (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC121740638, TFAP2A +1 more (P237A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121740638, TFAP2A +1 more (S185Y +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121740638, TFAP2A +1 more (L242P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | LOC121740638, TFAP2A +1 more (L243R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121740638, TFAP2A +1 more (L212P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | TFAP2A-related disorder | |
| | | Single nucleotide variant (missense variant) | TFAP2A-related disorder | |
| | LOC121740638, TFAP2A +1 more (R211P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | TFAP2A-related disorder | |
| | LOC121740638, TFAP2A +1 more (A240T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (K224R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Deletion (splice acceptor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TFAP2A, TFAP2A-AS2 (P271fs +2 more) | Deletion (frameshift variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (splice donor variant) | Branchiooculofacial syndrome | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC121740638, TFAP2A +1 more (G244C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | TFAP2A, TFAP2A-AS2 (G168R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121740638, TFAP2A +1 more (S181N +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | LOC121740638, TFAP2A +1 more (N190K +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121740638, TFAP2A +1 more (P196S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC121740638, TFAP2A +1 more (V223I +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more (A240E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC121740638, TFAP2A +1 more (A234T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC121740638, TFAP2A +1 more (S221* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | TFAP2A, TFAP2A-AS2 (G162S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |