| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Iodotyrosyl coupling defect | |
| | | Single nucleotide variant (missense variant) | TG-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Iodotyrosyl coupling defect +1 more | |
| | | Single nucleotide variant (synonymous variant) | Iodotyrosyl coupling defect +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene