| | 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 (non-coding transcript variant +1 more) | TFAP2A-related condition | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | 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 | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | 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 | |
| | 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 | |
| | LOC121740638, TFAP2A +1 more (S185Y +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more (L242P +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 | |
| | LOC121740638, TFAP2A +1 more (L243R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC121740638, TFAP2A +1 more (L212P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more (R211P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | TFAP2A-related condition | |
| | 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 | |
| | 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 | |
| | | 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 | |
| | 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 | |
| | LOC121740638, TFAP2A +1 more (P196S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | 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 | |
| | LOC121740638, TFAP2A +1 more (A234T +2 more) | Single nucleotide variant (missense variant +1 more) | 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) | not provided +1 more | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | TFAP2A, TFAP2A-AS2 +1 more (Y221* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | TFAP2A-related condition +1 more | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | TFAP2A-related condition +1 more | |
| | LOC121740638, TFAP2A +1 more (N239D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome +1 more | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | LOC121740638, TFAP2A +1 more (G197D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more (L176P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC121740638, TFAP2A +1 more (D192N +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Indel (non-coding transcript variant +2 more) | not provided | |
| | LOC121740638, TFAP2A +1 more (S233P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more (A186V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC129995739, TFAP2A +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | LOC121740638, TFAP2A +1 more (R230P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Melnick-Fraser syndrome | |
| | LOC121740638, TFAP2A +1 more (E236K +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | | Deletion | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (G253E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (L243P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | TFAP2A-AS2, TFAP2A (E159Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | 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) | Branchiooculofacial syndrome +1 more | |
| | TFAP2A, TFAP2A-AS2 (H163D +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 +2 more | |
| | LOC121740638, TFAP2A +1 more (K178R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC121740638, TFAP2A +1 more (R230W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (R248W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC121740638, TFAP2A +1 more (R248G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (G244D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (L232P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (R231P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (E227K +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | 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 (R249W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TFAP2A-AS2, LOC121740638 +1 more (R211L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | TFAP2A-related condition +1 more | GConflicting classifications of pathogenicity |
| | LOC121740638, TFAP2A +1 more (V174M +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | TFAP2A, TFAP2A-AS2 +1 more (V210D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (R213S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (R231Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | LOC121740638, TFAP2A +1 more | Deletion (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | LOC121740638, TFAP2A +1 more (R251G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |