| | | Single nucleotide variant (missense variant +1 more) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (missense variant) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (splice donor variant) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (missense variant) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital nongoitrous hypothyroidism 6 | |
| | NR1D1, THRA (S434fs +1 more) | Duplication (frameshift variant +1 more) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (missense variant) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (missense variant) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | NR1D1, THRA (R417* +1 more) | Single nucleotide variant (nonsense +1 more) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (missense variant) | Congenital nongoitrous hypothyroidism 6 | |
| | | Single nucleotide variant (missense variant) | Congenital nongoitrous hypothyroidism 6 | |