| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hypothyroidism, congenital, nongoitrous, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypothyroidism, congenital, nongoitrous, 2 | GConflicting classifications of pathogenicity |
| | LOC126806316, PAX8
+1 more (E237Q) | Single nucleotide variant (missense variant) | Hypothyroidism, congenital, nongoitrous, 2 | |
| | | Single nucleotide variant (missense variant) | Hypothyroidism, congenital, nongoitrous, 2 | |
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