| | NKX2-1, SFTA3 (G141fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (A36fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (V113fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (P131fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (L186fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (A272fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (G112fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (Q172L +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (R178* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (I207M +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (H212D +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (Q204L +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (Y116* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (V205A +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (S187* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (R213P +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (C244* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome | |
| | | Single nucleotide variant (synonymous variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (H319fs +1 more) | Duplication (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (R165fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (P317fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (P155fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (S336fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (R42fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | | Indel (inframe_indel) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (Y116* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (A303fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (T359fs +1 more) | Duplication (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (E126fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | SFTA3, NKX2-1 (P321fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (G267D +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (F158fs +1 more) | Deletion (frameshift variant) | not provided +1 more | |
| | NKX2-1, SFTA3 (Q54* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome +1 more | |
| | NKX2-1, SFTA3 (R179P +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome +2 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (Y174* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (M197fs +1 more) | Duplication (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (Y116fs +1 more) | Duplication (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (R213C +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (G322S +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | NKX2-1, SFTA3 (R165W +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (P202L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (A63fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | | Single nucleotide variant (synonymous variant) | Benign hereditary chorea +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | SFTA3, NKX2-1 (A274D +1 more) | Single nucleotide variant (missense variant) | Benign hereditary chorea +1 more | |
| | | Single nucleotide variant (synonymous variant) | Benign hereditary chorea +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Benign hereditary chorea +1 more | |
| | SFTA3, NKX2-1 (Y144* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (G85fs +1 more) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | NKX2-1, NKX2-1-AS1 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (H60fs +1 more) | Duplication (frameshift variant) | Brain-lung-thyroid syndrome +1 more | |
| | NKX2-1, SFTA3 (W238* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome +1 more | GPathogenic/Likely pathogenic |
| | SFTA3, NKX2-1 (Q291K +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (L34I +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Microsatellite (inframe_insertion) | NKX2-1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | NKX2-1, SFTA3 (P261R +1 more) | Single nucleotide variant (missense variant) | Benign hereditary chorea +1 more | |
| | NKX2-1, SFTA3 (S383del +1 more) | Microsatellite (inframe_deletion) | not provided +1 more | |
| | NKX2-1, SFTA3 (V83fs +1 more) | Deletion (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (Q313fs +1 more) | Duplication (frameshift variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, NKX2-1-AS1 +1 more | Deletion | Benign hereditary chorea +1 more | |
| | NKX2-1, SFTA3 (T233M +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (Y215* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (L176Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | NKX2-1, SFTA3 (E222* +1 more) | Single nucleotide variant (nonsense) | Brain-lung-thyroid syndrome +2 more | GPathogenic/Likely pathogenic |
| | NKX2-1, SFTA3 (A339V +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | NKX2-1, SFTA3 (Q212P +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | NKX2-1, SFTA3 (P291L +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Benign hereditary chorea +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | SFTA3, NKX2-1 (V179L +1 more) | Single nucleotide variant (missense variant) | Benign hereditary chorea +1 more | |
| | | Single nucleotide variant (synonymous variant) | Benign hereditary chorea +2 more | |
| | | Single nucleotide variant (synonymous variant) | Brain-lung-thyroid syndrome +1 more | |
| | NKX2-1, SFTA3 (A309S +1 more) | Single nucleotide variant (missense variant) | Brain-lung-thyroid syndrome +1 more | |
| | NKX2-1, SFTA3 (A365S +1 more) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Brain-lung-thyroid syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Benign hereditary chorea +1 more | |
| | | Duplication (3 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | | Duplication (3 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Benign hereditary chorea +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Duplication (3 prime UTR variant) | Benign hereditary chorea +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Benign hereditary chorea +1 more | |
| | | Duplication (3 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | | Deletion (3 prime UTR variant) | Benign hereditary chorea +2 more | |
| | | Duplication (3 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Benign hereditary chorea +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Benign hereditary chorea +1 more | |
| | | Deletion (3 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Brain-lung-thyroid syndrome +1 more | |
| | NKX2-1, SFTA3 (S175* +1 more) | Single nucleotide variant (nonsense) | See cases +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Brain-lung-thyroid syndrome | |
| | NKX2-1, SFTA3 (Y116fs +1 more) | Duplication (frameshift variant) | Brain-lung-thyroid syndrome | |