ClinVar Miner

List of variants in gene GLI2 reported as uncertain significance for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP
NM_001374353.1(GLI2):c.*1332T>C rs150397467
NM_001374353.1(GLI2):c.*1628G>T rs886054827
NM_001374353.1(GLI2):c.*1660T>A
NM_001374353.1(GLI2):c.*1735T>C
NM_001374353.1(GLI2):c.*1753C>T
NM_001374353.1(GLI2):c.*1819T>C rs754885960
NM_001374353.1(GLI2):c.*1888T>G rs747928542
NM_001374353.1(GLI2):c.*1947G>A
NM_001374353.1(GLI2):c.*285G>A
NM_001374353.1(GLI2):c.*378A>G rs886054820
NM_001374353.1(GLI2):c.*411C>T
NM_001374353.1(GLI2):c.*712G>C
NM_001374353.1(GLI2):c.*795T>C
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) rs370220133
NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met) rs571690193
NM_001374353.1(GLI2):c.1195G>A (p.Asp399Asn)
NM_001374353.1(GLI2):c.1309C>G (p.Leu437Val)
NM_001374353.1(GLI2):c.1317+6C>G rs200971419
NM_001374353.1(GLI2):c.149-14C>G
NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser) rs1553477146
NM_001374353.1(GLI2):c.152C>G (p.Pro51Arg)
NM_001374353.1(GLI2):c.1633-7T>A rs532360271
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His)
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277
NM_001374353.1(GLI2):c.1917C>T (p.Ser639=) rs377642084
NM_001374353.1(GLI2):c.1924G>A (p.Gly642Arg)
NM_001374353.1(GLI2):c.2062G>A (p.Asp688Asn) rs751513015
NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys) rs773976966
NM_001374353.1(GLI2):c.2131C>T (p.Arg711Trp)
NM_001374353.1(GLI2):c.220C>T (p.His74Tyr) rs201945889
NM_001374353.1(GLI2):c.2261T>G (p.Phe754Cys)
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp) rs886054812
NM_001374353.1(GLI2):c.2395G>T (p.Ala799Ser) rs767780220
NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser) rs531807595
NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu) rs761090665
NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr) rs751028726
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=) rs772224406
NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu)
NM_001374353.1(GLI2):c.2683A>G (p.Ser895Gly)
NM_001374353.1(GLI2):c.2689C>T (p.Arg897Trp)
NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln) rs886054813
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=) rs747247646
NM_001374353.1(GLI2):c.2873G>T (p.Arg958Leu)
NM_001374353.1(GLI2):c.2955C>G (p.Ala985=) rs886054814
NM_001374353.1(GLI2):c.315G>A (p.Pro105=) rs139473153
NM_001374353.1(GLI2):c.3186C>T (p.Asp1062=) rs769533860
NM_001374353.1(GLI2):c.31G>A (p.Glu11Lys) rs574656730
NM_001374353.1(GLI2):c.3228C>T (p.Phe1076=) rs886054815
NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile)
NM_001374353.1(GLI2):c.3416C>T (p.Ala1139Val) rs886054816
NM_001374353.1(GLI2):c.3596T>A (p.Ile1199Asn) rs886054817
NM_001374353.1(GLI2):c.3647A>G (p.Gln1216Arg) rs377503122
NM_001374353.1(GLI2):c.3842G>A (p.Arg1281His) rs370407550
NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr) rs767845340
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met)
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys) rs143914758
NM_001374353.1(GLI2):c.4226C>T (p.Ser1409Leu)
NM_001374353.1(GLI2):c.4255G>A (p.Ala1419Thr) rs376388820
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=) rs374166743
NM_001374353.1(GLI2):c.4307T>C (p.Met1436Thr) rs886054818
NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp)
NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu)
NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr)
NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro) rs781771721
NM_001374353.1(GLI2):c.661C>T (p.Pro221Ser) rs771675078
NM_001374353.1(GLI2):c.671C>T (p.Thr224Met)
NM_001374353.1(GLI2):c.677G>A (p.Arg226His) rs766283583
NM_001374353.1(GLI2):c.686G>A (p.Arg229His)
NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro) rs1558923316
NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln) rs201053024
NM_005270.5(GLI2):c.2911G>A (p.Asp971Asn)

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.