ClinVar Miner

List of variants reported as uncertain significance for brain-lung-thyroid syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_001079668.3(NKX2-1):c.*185_*186dup rs1555349072
NM_001079668.3(NKX2-1):c.*186dup rs1555349072
NM_001079668.3(NKX2-1):c.*210dup rs886050480
NM_001079668.3(NKX2-1):c.*459_*460dup rs5807883
NM_001079668.3(NKX2-1):c.*460del rs5807883
NM_001079668.3(NKX2-1):c.*460dup rs5807883
NM_001079668.3(NKX2-1):c.*470A>G rs886050479
NM_001079668.3(NKX2-1):c.*544G>A rs886050478
NM_001079668.3(NKX2-1):c.*820A>G rs886050477
NM_001079668.3(NKX2-1):c.-71C>A rs886050485
NM_001079668.3(NKX2-1):c.1143_1145CTC[1] (p.Ser383del) rs903233524
NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=) rs886050481
NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=) rs747491554
NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=) rs886050484
NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=) rs778886269
NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met)
NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=) rs886050483
NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser) rs886050482

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.