| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC121740638, TFAP2A +1 more (R249W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | 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 (R231Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | LOC121740638, TFAP2A +1 more (K224R +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 (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 (S181N +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | TFAP2A, TFAP2A-AS2 (G168R +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TFAP2A, TFAP2A-AS2 (G162S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
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