ClinVar Miner

List of variants reported as likely pathogenic for X-linked agammaglobulinemia with growth hormone deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_000061.2(BTK):c.1558C>G (p.Arg520Gly) rs128621201
NM_000061.2(BTK):c.1625T>C (p.Leu542Pro) rs128621203
NM_000061.2(BTK):c.1696C>T (p.Pro566Ser) rs1603002421
NM_000061.2(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del)
NM_000061.3(BTK):c.1747T>G (p.Phe583Val)
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser)
NM_000061.3(BTK):c.884T>C (p.Leu295Pro)
NM_001287345.1(BTK):c.1039-1411G>T rs1603004514

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.