NKX2-5
NK2 homeobox 5
Summary
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Known Variants437 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs540202205 | 5:172,659,276 | C/G | — | benign |
| rs191625345 | 5:172,659,375 | C/G | — | likely benign |
| rs703752 | 5:172,659,511 | C/A | 3 prime UTR variant | benign |
| rs370499146 | 5:172,659,578 | G/A | — | likely benign |
| rs1188394387 | 5:172,659,579 | G/C | — | uncertain significance |
| rs1761339252 | 5:172,659,581 | T/C | — | likely benign |
| rs944504713 | 5:172,659,586 | T/C | — | uncertain significance |
| rs1244640427 | 5:172,659,590 | A/T | — | uncertain significance |
| rs1196710127 | 5:172,659,591 | T/C | — | uncertain significance |
| rs2113900561 | 5:172,659,597 | G/A | — | uncertain significance |
| rs1761339954 | 5:172,659,600 | G/T | — | uncertain significance |
| rs2480070777 | 5:172,659,602 | C/G | — | likely benign |
| rs201249977 | 5:172,659,604 | C/A | — | conflicting classifications of pathogenicity |
| rs200152391 | 5:172,659,606 | C/T | — | uncertain significance |
| rs1761340979 | 5:172,659,607 | C/A | — | uncertain significance |
| rs748311298 | 5:172,659,608 | C/T | — | likely benign |
| rs769930017 | 5:172,659,609 | G/A | — | uncertain significance |
| rs142368156 | 5:172,659,615 | C/T | — | uncertain significance |
| rs1761341308 | 5:172,659,616 | T/G | — | uncertain significance |
| rs2480070842 | 5:172,659,619 | G/A | — | uncertain significance |
| rs2480070851 | 5:172,659,621 | G/A | — | uncertain significance |
| rs771088497 | 5:172,659,624 | A/G | — | uncertain significance |
| rs2113900634 | 5:172,659,625 | T/C | — | uncertain significance |
| rs1761341602 | 5:172,659,626 | C/T | — | likely benign |
| rs1761341668 | 5:172,659,629 | G/A | — | likely benign |
| rs760182745 | 5:172,659,632 | G/A | — | likely benign |
| rs772495396 | 5:172,659,640 | C/A | — | uncertain significance |
| rs529731562 | 5:172,659,641 | C/G | — | likely benign |
| rs2480071015 | 5:172,659,647 | C/G | — | uncertain significance |
| rs2480071018 | 5:172,659,648 | A/G | — | uncertain significance |
| rs761208569 | 5:172,659,649 | A/G | — | likely benign |
| rs1060504828 | 5:172,659,650 | G/A | — | likely benign |
| rs137852683 | 5:172,659,651 | T/C | missense variant | pathogenic |
| rs2113900696 | 5:172,659,653 | C/T | — | likely benign |
| rs549406766 | 5:172,659,654 | C/T | — | uncertain significance |
| rs750356140 | 5:172,659,656 | G/A | — | likely benign |
| rs569535312 | 5:172,659,658 | C/A | — | conflicting classifications of pathogenicity |
| rs2480071057 | 5:172,659,659 | G/T | — | likely benign |
| rs373421818 | 5:172,659,660 | C/T | — | uncertain significance |
| rs1358735679 | 5:172,659,661 | C/T | — | uncertain significance |
| rs150581386 | 5:172,659,662 | G/C | — | uncertain significance |
| rs1554093405 | 5:172,659,665 | G/A | — | likely benign |
| rs538010963 | 5:172,659,671 | G/A | — | likely benign |
| rs1318592912 | 5:172,659,675 | T/G | — | uncertain significance |
| rs1761343333 | 5:172,659,676 | T/A | — | uncertain significance |
| rs936204422 | 5:172,659,678 | T/C | — | conflicting classifications of pathogenicity |
| rs779136385 | 5:172,659,680 | G/C | — | uncertain significance |
| rs1761343757 | 5:172,659,684 | G/A | — | uncertain significance |
| rs746315645 | 5:172,659,685 | C/T | — | uncertain significance |
| rs77612903 | 5:172,659,686 | G/A | — | conflicting classifications of pathogenicity |
| rs775959611 | 5:172,659,689 | G/A | — | likely benign |
| rs1761344116 | 5:172,659,690 | G/A | — | uncertain significance |
| rs2113900817 | 5:172,659,693 | G/A | — | uncertain significance |
| rs374150672 | 5:172,659,695 | G/C | — | likely benign |
| rs1761344289 | 5:172,659,696 | G/A | — | uncertain significance |
| rs769114793 | 5:172,659,698 | C/T | — | likely benign |
| rs375086983 | 5:172,659,699 | G/T | missense variant | pathogenic |
| rs2113900851 | 5:172,659,700 | G/C | — | uncertain significance |
| rs1206339157 | 5:172,659,705 | G/T | — | uncertain significance |
| rs1266892994 | 5:172,659,706 | C/T | — | uncertain significance |
| rs761596254 | 5:172,659,708 | G/A | — | conflicting classifications of pathogenicity |
| rs1761345000 | 5:172,659,710 | G/A | — | likely benign |
| rs1223599871 | 5:172,659,711 | G/A | — | uncertain significance |
| rs571382279 | 5:172,659,712 | A/C | — | uncertain significance |
| rs2113900895 | 5:172,659,714 | G/A | — | uncertain significance |
| rs772729751 | 5:172,659,718 | C/A | — | uncertain significance |
| rs762836048 | 5:172,659,719 | G/C | — | likely benign |
| rs751564052 | 5:172,659,720 | G/C | — | conflicting classifications of pathogenicity |
| rs1425022333 | 5:172,659,721 | C/T | — | conflicting classifications of pathogenicity |
| rs754712373 | 5:172,659,722 | G/A | — | likely benign |
| rs1060503097 | 5:172,659,723 | G/A | — | uncertain significance |
| rs368366482 | 5:172,659,724 | G/A | — | uncertain significance |
| rs2480071578 | 5:172,659,725 | G/T | — | conflicting classifications of pathogenicity |
| rs2113900942 | 5:172,659,728 | A/T | — | likely benign |
| rs779089768 | 5:172,659,730 | C/G | — | uncertain significance |
| rs2480071614 | 5:172,659,731 | G/T | — | likely benign |
| rs2480071624 | 5:172,659,734 | A/T | — | likely benign |
| rs587782931 | 5:172,659,738 | C/T | — | conflicting classifications of pathogenicity |
| rs1289353345 | 5:172,659,741 | C/T | — | uncertain significance |
| rs1761346424 | 5:172,659,743 | G/C | — | likely pathogenic |
| rs780688010 | 5:172,659,748 | C/T | — | uncertain significance |
| rs2480071733 | 5:172,659,760 | C/G | — | uncertain significance |
| rs747698510 | 5:172,659,763 | C/A | — | uncertain significance |
| rs587784067 | 5:172,659,764 | — | — | pathogenic |
| rs1253659256 | 5:172,659,767 | G/T | — | likely benign |
| rs1057520670 | 5:172,659,770 | G/C | stop gained | pathogenic |
| rs553883993 | 5:172,659,771 | T/A | — | uncertain significance |
| rs772889193 | 5:172,659,775 | C/T | — | uncertain significance |
| rs762428190 | 5:172,659,776 | C/A | — | likely benign |
| rs770484529 | 5:172,659,777 | G/A | — | uncertain significance |
| rs387906776 | 5:172,659,778 | G/T | missense variant | uncertain significance |
| rs104893907 | 5:172,659,779 | A/C | stop gained | pathogenic |
| rs759518211 | 5:172,659,784 | C/T | — | uncertain significance |
| rs762090105 | 5:172,659,792 | G/A | — | conflicting classifications of pathogenicity |
| rs765528024 | 5:172,659,794 | G/C | — | uncertain significance |
| rs1327849028 | 5:172,659,795 | T/C | — | uncertain significance |
| rs1761348325 | 5:172,659,796 | T/C | — | uncertain significance |
| rs758539727 | 5:172,659,803 | G/T | — | pathogenic |
| rs1131691343 | 5:172,659,804 | T/C | — | uncertain significance |
| rs2480072004 | 5:172,659,806 | G/C | — | likely benign |
Showing 100 of 437 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.