| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | DUOXA1, DUOXA2 (H357Y +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | DUOXA1, DUOXA2 (E351* +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | DUOXA1, DUOXA2 (P391L +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | DUOXA1, DUOXA2 (R368T +1 more) | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | DUOXA1, DUOXA2 (H385Q +1 more) | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | DUOXA1, DUOXA2 +1 more (A341E +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DUOXA1, DUOXA2 (R433P +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | DUOXA1, DUOXA2 (E397A +1 more) | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | DUOXA1, DUOXA2 (H340fs +1 more) | Deletion (frameshift variant +2 more) | not provided | |
| | DUOXA1, DUOXA2 (C260fs +2 more) | Microsatellite (frameshift variant +1 more) | not specified +1 more | |
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