| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NKX2-1, SFTA3 (A339V +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Pseudopseudohypoparathyroidism +1 more | |
| | | Deletion (intron variant +1 more) | Pseudopseudohypoparathyroidism +1 more | |
| | | Single nucleotide variant (missense variant) | Non-small cell lung carcinoma | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypothyroidism, congenital, nongoitrous, 2 | |
| | | Single nucleotide variant (missense variant) | Pituitary hormone deficiency, combined, 1 | |
| | | Single nucleotide variant (missense variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | GConflicting classifications of pathogenicity |
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