| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126806316, PAX8 +1 more (P252A) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126806316, PAX8 +1 more (R224C) | Single nucleotide variant (missense variant) | Hypothyroidism, congenital, nongoitrous, 2 | |
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