HESX1
HESX homeobox 1
Summary
This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
Known Variants91 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886058753 | 3:57,232,033 | A/T | — | uncertain significance |
| rs372550682 | 3:57,232,177 | C/T | — | uncertain significance |
| rs754106154 | 3:57,232,224 | T/C | — | likely benign |
| rs765366602 | 3:57,232,238 | T/A | — | uncertain significance |
| rs28936704 | 3:57,232,242 | T/C | missense variant | pathogenic |
| rs141063672 | 3:57,232,258 | C/T | — | conflicting classifications of pathogenicity |
| rs760501622 | 3:57,232,266 | G/A | — | likely benign |
| rs28936703 | 3:57,232,274 | G/A | missense variant | pathogenic |
| rs2471733392 | 3:57,232,282 | A/C | — | uncertain significance |
| rs1367550537 | 3:57,232,285 | G/A | — | likely benign |
| rs766234350 | 3:57,232,304 | C/T | — | conflicting classifications of pathogenicity |
| rs28936702 | 3:57,232,305 | G/A | missense variant | pathogenic |
| rs770886420 | 3:57,232,308 | G/A | — | conflicting classifications of pathogenicity |
| rs112703580 | 3:57,232,326 | A/G | — | uncertain significance |
| rs1579346889 | 3:57,232,330 | T/C | — | likely benign |
| rs2471733578 | 3:57,232,333 | A/T | — | likely benign |
| rs376071780 | 3:57,232,401 | A/G | — | likely benign |
| rs2471733707 | 3:57,232,404 | A/G | — | likely benign |
| rs1385826685 | 3:57,232,428 | G/C | — | uncertain significance |
| rs104893742 | 3:57,232,433 | C/T | missense variant | pathogenic |
| rs1332391074 | 3:57,232,439 | G/T | — | uncertain significance |
| rs2060461605 | 3:57,232,447 | T/G | — | uncertain significance |
| rs190201411 | 3:57,232,473 | G/C | — | uncertain significance |
| rs2107564014 | 3:57,232,478 | C/G | — | uncertain significance |
| rs143057250 | 3:57,232,493 | C/T | — | conflicting classifications of pathogenicity |
| rs9878928 | 3:57,232,504 | T/C | — | likely benign |
| rs1553632435 | 3:57,232,525 | G/A | — | likely benign |
| rs2471734169 | 3:57,232,540 | A/G | — | likely benign |
| rs575112817 | 3:57,232,779 | A/G | splice region variant | pathogenic |
| rs141270468 | 3:57,232,780 | C/T | — | likely pathogenic |
| rs746444024 | 3:57,232,784 | G/C | — | uncertain significance |
| rs765353265 | 3:57,232,788 | T/G | — | conflicting classifications of pathogenicity |
| rs745685399 | 3:57,232,789 | G/A | — | pathogenic |
| rs2471734744 | 3:57,232,803 | C/G | — | uncertain significance |
| rs1472212351 | 3:57,232,806 | G/A | — | uncertain significance |
| rs768165720 | 3:57,232,812 | C/T | — | conflicting classifications of pathogenicity |
| rs751011809 | 3:57,232,813 | G/A | — | pathogenic |
| rs1356804304 | 3:57,232,820 | A/G | — | likely benign |
| rs200647627 | 3:57,232,822 | A/C | — | uncertain significance |
| rs754137696 | 3:57,232,825 | A/C | — | uncertain significance |
| rs544122726 | 3:57,232,829 | C/G | — | uncertain significance |
| rs777223697 | 3:57,232,830 | A/T | — | likely pathogenic |
| rs1465556147 | 3:57,232,833 | T/A | — | uncertain significance |
| rs1176438608 | 3:57,232,835 | T/C | — | likely benign |
| rs1301873102 | 3:57,232,850 | T/G | — | uncertain significance |
| rs146029258 | 3:57,232,883 | C/T | — | likely benign |
| rs149663188 | 3:57,232,884 | G/T | — | pathogenic |
| rs980166573 | 3:57,232,894 | C/G | — | uncertain significance |
| rs745873579 | 3:57,232,897 | C/A | — | pathogenic |
| rs2471735121 | 3:57,232,914 | A/C | — | uncertain significance |
| rs148422263 | 3:57,232,918 | C/T | — | conflicting classifications of pathogenicity |
| rs748972176 | 3:57,232,919 | G/A | — | conflicting classifications of pathogenicity |
| rs373284490 | 3:57,232,920 | C/T | — | uncertain significance |
| rs141863326 | 3:57,232,938 | C/G | — | uncertain significance |
| rs374187836 | 3:57,232,955 | A/G | — | conflicting classifications of pathogenicity |
| rs759777940 | 3:57,232,967 | G/A | — | likely benign |
| rs2471735298 | 3:57,232,969 | T/G | — | uncertain significance |
| rs2060466182 | 3:57,232,975 | C/A | — | uncertain significance |
| rs756899311 | 3:57,232,980 | C/T | — | uncertain significance |
| rs1238248024 | 3:57,232,981 | C/G | — | likely pathogenic |
| rs12715498 | 3:57,233,661 | A/T | — | benign |
| rs2471736880 | 3:57,233,771 | C/A | — | likely benign |
| rs747016694 | 3:57,233,785 | C/T | — | uncertain significance |
| rs2060473006 | 3:57,233,795 | G/A | — | uncertain significance |
| rs1299316380 | 3:57,233,797 | G/A | — | likely benign |
| rs916239829 | 3:57,233,800 | G/A | — | likely benign |
| rs765587086 | 3:57,233,810 | G/A | — | uncertain significance |
| rs2107565760 | 3:57,233,812 | C/T | — | pathogenic |
| rs2471737008 | 3:57,233,816 | G/A | — | uncertain significance |
| rs761470587 | 3:57,233,823 | G/A | — | uncertain significance |
| rs372686744 | 3:57,233,842 | A/G | — | likely benign |
| rs930423549 | 3:57,233,845 | G/A | — | likely benign |
| rs115448575 | 3:57,233,857 | G/A | — | likely benign |
| rs28936416 | 3:57,233,870 | A/G | missense variant | pathogenic |
| rs747890985 | 3:57,233,872 | T/C | — | likely benign |
| rs778100113 | 3:57,233,879 | A/G | — | uncertain significance |
| rs747106663 | 3:57,233,888 | G/C | — | uncertain significance |
| rs1319945046 | 3:57,233,897 | G/A | — | uncertain significance |
| rs770965037 | 3:57,233,900 | G/A | — | uncertain significance |
| rs1211787671 | 3:57,233,912 | C/T | — | uncertain significance |
| rs375305919 | 3:57,233,913 | C/T | — | uncertain significance |
| rs775835444 | 3:57,233,914 | G/A | — | likely benign |
| rs763261432 | 3:57,233,922 | C/T | — | uncertain significance |
| rs121909173 | 3:57,233,929 | C/G | missense variant | pathogenic |
| rs1332400265 | 3:57,233,936 | C/T | — | uncertain significance |
| rs2107566038 | 3:57,233,944 | C/T | — | conflicting classifications of pathogenicity |
| rs368171529 | 3:57,233,952 | C/T | — | uncertain significance |
| rs528919258 | 3:57,233,953 | G/T | — | uncertain significance |
| rs549564119 | 3:57,234,176 | A/T | — | uncertain significance |
| rs983243 | 3:57,234,222 | A/C | — | conflicting classifications of pathogenicity |
| rs4640525 | 3:57,263,394 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.