ClinVar Miner

List of variants in gene CHMP2B reported as uncertain significance for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014043.4(CHMP2B):c.*1647A>G rs534772903 0.00024
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu) rs149380040 0.00015
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) rs200792883 0.00011
NM_014043.4(CHMP2B):c.*718C>T rs918982067 0.00010
NM_014043.4(CHMP2B):c.*1421C>T rs1016915311 0.00009
NM_014043.4(CHMP2B):c.532-3T>C rs375829451 0.00009
NM_014043.4(CHMP2B):c.*1516C>T rs1024508536 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp) rs373536428 0.00006
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile) rs374277596 0.00004
NM_014043.4(CHMP2B):c.321+3A>G rs989392144 0.00004
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser) rs63750944 0.00004
NM_014043.4(CHMP2B):c.*1422G>A rs572323799 0.00002
NM_014043.4(CHMP2B):c.*1482T>A rs910263560 0.00001
NM_014043.4(CHMP2B):c.*901T>C rs1014335812 0.00001
NM_014043.4(CHMP2B):c.-144C>T rs1441064038 0.00001
NM_014043.4(CHMP2B):c.126+4A>G rs369912013 0.00001
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg) rs143800051 0.00001
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu) rs745754634 0.00001
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp) rs553846327 0.00001
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met) rs1295215037 0.00001
NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile) rs202143621 0.00001
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu) rs369257752 0.00001
NM_014043.4(CHMP2B):c.*1080C>T rs963258376
NM_014043.4(CHMP2B):c.*121G>A rs1706359144
NM_014043.4(CHMP2B):c.*1414T>C rs1575973316
NM_014043.4(CHMP2B):c.*602T>G rs886058908
NM_014043.4(CHMP2B):c.*626A>G rs971797498
NM_014043.4(CHMP2B):c.*968G>A rs886058910
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=) rs1706200423
NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)
NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu) rs1706202120
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr) rs2106908498
NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys) rs747904374
NM_014043.4(CHMP2B):c.34+6T>C
NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)
NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val) rs1706285788
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp) rs2106916834
NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_014043.4(CHMP2B):c.535del (p.Ala179fs)
NM_014043.4(CHMP2B):c.548C>G (p.Ser183Ter)
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp) rs2106917283
NM_014043.4(CHMP2B):c.589A>G (p.Thr197Ala)
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln) rs750217435
NM_014043.4(CHMP2B):c.614G>T (p.Arg205Leu)
NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)
NM_014043.4(CHMP2B):c.67G>A (p.Gly23Ser)
NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)
NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser) rs775142652

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.