Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Thyroid hormone metabolism, abnormal 1 | |
| | | Microsatellite (frameshift variant) | Thyroid hormone metabolism, abnormal 1 | |
| | | Single nucleotide variant (nonsense) | Thyroid hormone metabolism, abnormal 1 | |
| | | Single nucleotide variant (missense variant) | Thyroid hormone metabolism, abnormal 1 | |
| | | Single nucleotide variant (nonsense) | Thyroid hormone metabolism, abnormal 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Thyroid hormone metabolism, abnormal 1 | |
| | | Single nucleotide variant (splice donor variant) | Thyroid hormone metabolism, abnormal 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Thyroid hormone metabolism, abnormal 1 | |
| | | Duplication (frameshift variant +1 more) | Thyroid hormone metabolism, abnormal 1 | |
| | | Single nucleotide variant | Thyroid hormone metabolism, abnormal, 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Thyroid hormone metabolism, abnormal 1 | |
| | | Single nucleotide variant (nonsense) | Thyroid hormone metabolism, abnormal 1 | |
| | | Single nucleotide variant (missense variant) | SECISBP2-related disorder +1 more | GConflicting classifications of pathogenicity |
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