NBEAL2
neurobeachin like 2
Summary
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
Known Variants525 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13062185 | 3:47,020,835 | A/T | — | benign |
| rs13062516 | 3:47,021,023 | A/G | — | benign |
| rs13062681 | 3:47,021,124 | A/G | — | benign |
| rs892777590 | 3:47,021,174 | G/A | — | uncertain significance |
| rs886058587 | 3:47,021,190 | C/T | — | uncertain significance |
| rs1011004600 | 3:47,021,232 | C/G | — | uncertain significance |
| rs886058588 | 3:47,021,276 | G/A | — | uncertain significance |
| rs2545146149 | 3:47,021,388 | C/T | — | uncertain significance |
| rs1575573407 | 3:47,021,390 | C/T | — | likely benign |
| rs886058590 | 3:47,021,413 | C/T | — | uncertain significance |
| rs7631423 | 3:47,022,143 | C/T | — | — |
| rs66539935 | 3:47,025,327 | C/G | — | — |
| rs1108301 | 3:47,029,426 | G/C | — | — |
| rs61734084 | 3:47,030,230 | C/G | — | benign |
| rs2545183262 | 3:47,030,253 | G/T | — | likely benign |
| rs369926920 | 3:47,030,339 | G/A | — | uncertain significance |
| rs771661814 | 3:47,030,356 | C/T | — | uncertain significance |
| rs188470343 | 3:47,030,359 | G/A | — | likely benign |
| rs80105480 | 3:47,030,378 | C/T | — | benign |
| rs772836674 | 3:47,030,392 | C/G | — | likely benign |
| rs750925242 | 3:47,030,582 | G/A | — | uncertain significance |
| rs374522449 | 3:47,030,604 | G/A | — | uncertain significance |
| rs2545185903 | 3:47,030,644 | G/C | — | uncertain significance |
| rs371460227 | 3:47,030,766 | C/G | — | uncertain significance |
| rs1225527977 | 3:47,030,769 | C/T | — | uncertain significance |
| rs1283560494 | 3:47,030,777 | C/T | — | pathogenic |
| rs113523265 | 3:47,030,782 | C/G | — | benign |
| rs531384669 | 3:47,030,785 | G/A | — | likely benign |
| rs375491925 | 3:47,030,800 | G/A | — | likely benign |
| rs772350824 | 3:47,030,804 | C/T | — | uncertain significance |
| rs369897407 | 3:47,030,813 | C/T | — | likely benign |
| rs1001207491 | 3:47,030,825 | G/A | — | uncertain significance |
| rs886058591 | 3:47,030,838 | A/G | — | uncertain significance |
| rs2035909011 | 3:47,030,839 | C/T | — | uncertain significance |
| rs199797249 | 3:47,030,865 | G/A | — | conflicting classifications of pathogenicity |
| rs375726193 | 3:47,030,997 | C/T | — | conflicting classifications of pathogenicity |
| rs2545189745 | 3:47,031,033 | A/G | — | uncertain significance |
| rs745890949 | 3:47,031,071 | G/A | — | uncertain significance |
| rs2035937542 | 3:47,031,081 | A/G | — | likely benign |
| rs4282092 | 3:47,031,237 | C/G | — | benign |
| rs374287073 | 3:47,032,731 | C/T | — | likely benign |
| rs767318538 | 3:47,032,740 | C/T | — | likely benign |
| rs199694703 | 3:47,032,749 | G/A | — | likely benign |
| rs750594398 | 3:47,032,754 | G/A | — | uncertain significance |
| rs1397926183 | 3:47,032,757 | T/G | — | uncertain significance |
| rs886058592 | 3:47,032,786 | G/A | — | uncertain significance |
| rs781779589 | 3:47,032,924 | G/C | — | uncertain significance |
| rs2036079664 | 3:47,032,935 | G/T | — | uncertain significance |
| rs181297174 | 3:47,032,943 | G/C | — | uncertain significance |
| rs372112042 | 3:47,032,978 | C/T | — | uncertain significance |
| rs2036088128 | 3:47,033,032 | T/C | — | uncertain significance |
| rs2036088919 | 3:47,033,045 | C/T | — | uncertain significance |
| rs754088812 | 3:47,033,058 | C/T | — | uncertain significance |
| rs2036091159 | 3:47,033,061 | G/A | — | uncertain significance |
| rs372699842 | 3:47,033,074 | G/C | — | uncertain significance |
| rs2545200704 | 3:47,033,095 | T/G | — | uncertain significance |
| rs200666191 | 3:47,033,113 | A/C | — | benign |
| rs200121105 | 3:47,033,125 | G/A | — | conflicting classifications of pathogenicity |
| rs372277612 | 3:47,033,134 | C/G | stop gained | pathogenic |
| rs886058593 | 3:47,033,160 | C/G | — | uncertain significance |
| rs1317847353 | 3:47,033,166 | G/A | — | uncertain significance |
| rs2545202475 | 3:47,033,344 | A/G | — | uncertain significance |
| rs13066214 | 3:47,033,937 | T/C | — | benign |
| rs201015016 | 3:47,033,970 | C/T | — | likely benign |
| rs757045961 | 3:47,033,981 | G/A | — | uncertain significance |
| rs530589418 | 3:47,033,984 | C/T | — | uncertain significance |
| rs185057557 | 3:47,033,985 | G/A | — | conflicting classifications of pathogenicity |
| rs769842468 | 3:47,034,013 | A/G | — | uncertain significance |
| rs564642782 | 3:47,034,016 | C/T | — | uncertain significance |
| rs528681375 | 3:47,034,034 | G/A | — | conflicting classifications of pathogenicity |
| rs2545208025 | 3:47,034,040 | C/G | — | uncertain significance |
| rs778587914 | 3:47,034,046 | G/A | — | likely pathogenic |
| rs375381261 | 3:47,035,418 | C/T | — | uncertain significance |
| rs750314830 | 3:47,035,435 | C/G | — | uncertain significance |
| rs367672629 | 3:47,035,447 | C/T | — | uncertain significance |
| rs373692683 | 3:47,035,460 | C/A | — | uncertain significance |
| rs187629020 | 3:47,035,469 | A/G | — | uncertain significance |
| rs387907113 | 3:47,035,476 | T/C | missense variant | pathogenic |
| rs936185 | 3:47,035,625 | G/A | — | benign |
| rs749511 | 3:47,035,735 | T/G | — | benign |
| rs749512 | 3:47,035,900 | C/T | — | benign |
| rs769130047 | 3:47,035,959 | G/A | — | uncertain significance |
| rs774255725 | 3:47,036,000 | A/G | — | uncertain significance |
| rs760063750 | 3:47,036,002 | G/T | — | uncertain significance |
| rs768145657 | 3:47,036,018 | G/A | — | uncertain significance |
| rs759433271 | 3:47,036,532 | G/A | — | uncertain significance |
| rs370728552 | 3:47,036,558 | C/T | — | uncertain significance |
| rs1014720355 | 3:47,036,564 | C/T | — | likely benign |
| rs17079425 | 3:47,036,565 | G/A | — | benign |
| rs763174968 | 3:47,036,569 | C/T | — | uncertain significance |
| rs368375664 | 3:47,036,576 | C/G | — | conflicting classifications of pathogenicity |
| rs115611407 | 3:47,036,578 | G/A | — | benign |
| rs2036385407 | 3:47,036,582 | C/G | — | uncertain significance |
| rs1257779155 | 3:47,036,585 | G/A | — | uncertain significance |
| rs756484174 | 3:47,036,592 | C/T | — | uncertain significance |
| rs1170204640 | 3:47,036,595 | A/G | — | uncertain significance |
| rs114363730 | 3:47,036,605 | G/A | — | benign |
| rs373760839 | 3:47,036,617 | C/T | — | likely benign |
| rs746838327 | 3:47,036,618 | G/A | — | uncertain significance |
| rs533901327 | 3:47,036,634 | T/A | — | uncertain significance |
Showing 100 of 525 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.