| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC121740638, TFAP2A-AS2
+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 (G244C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome | |
| | | Single nucleotide variant (missense variant) | Branchiooculofacial syndrome +1 more | |
Click to view in NCBI Gene