Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Isolated thyroid-stimulating hormone deficiency | |
| | | Single nucleotide variant (missense variant) | Isolated thyroid-stimulating hormone deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Isolated thyroid-stimulating hormone deficiency +1 more | |
| | | Deletion (frameshift variant) | Isolated thyroid-stimulating hormone deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated thyroid-stimulating hormone deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Isolated thyroid-stimulating hormone deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Isolated thyroid-stimulating hormone deficiency | |
| | | Single nucleotide variant (missense variant) | Isolated thyroid-stimulating hormone deficiency | |
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