ClinVar Miner

List of variants in gene LARGE1 reported as uncertain significance for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_004737.6(LARGE1):c.*100C>A rs567278765
NM_004737.6(LARGE1):c.*1201A>G rs11544101
NM_004737.6(LARGE1):c.*1235A>G rs1801820
NM_004737.6(LARGE1):c.*455C>T rs886057460
NM_004737.6(LARGE1):c.*479A>T rs886057459
NM_004737.6(LARGE1):c.*499G>A rs886057458
NM_004737.6(LARGE1):c.*501T>C rs886057457
NM_004737.6(LARGE1):c.*580C>T rs776235903
NM_004737.6(LARGE1):c.*770A>T rs886057456
NM_004737.6(LARGE1):c.*796C>T rs144150303
NM_004737.6(LARGE1):c.*798G>A rs778063005
NM_004737.6(LARGE1):c.*823_*824dup rs140177888
NM_004737.6(LARGE1):c.*833A>G rs748248240
NM_004737.6(LARGE1):c.*849C>T rs149508241
NM_004737.6(LARGE1):c.*998A>G rs886057455
NM_004737.6(LARGE1):c.-121G>C rs114574565
NM_004737.6(LARGE1):c.-145-9A>C rs759992064
NM_004737.6(LARGE1):c.-212G>C rs143403352
NM_004737.6(LARGE1):c.-305C>T rs886057462
NM_004737.6(LARGE1):c.-310T>G rs886057463
NM_004737.6(LARGE1):c.-334G>A rs185068235
NM_004737.6(LARGE1):c.-340T>G rs886057464
NM_004737.6(LARGE1):c.-34G>A rs759430272
NM_004737.6(LARGE1):c.-350A>G rs886057465
NM_004737.6(LARGE1):c.-355G>C rs886057466
NM_004737.6(LARGE1):c.-406C>A rs886057467
NM_004737.6(LARGE1):c.-422C>G rs886057468
NM_004737.6(LARGE1):c.-462A>T rs535216289
NM_004737.6(LARGE1):c.-518G>A rs532736408
NM_004737.6(LARGE1):c.-543C>T rs886057469
NM_004737.6(LARGE1):c.-544G>T rs537756491
NM_004737.6(LARGE1):c.1092C>T (p.Thr364=) rs144216539
NM_004737.6(LARGE1):c.1287C>T (p.Asn429=) rs561439887
NM_004737.6(LARGE1):c.1320C>T (p.Asp440=) rs772615481
NM_004737.6(LARGE1):c.1413C>A (p.Ser471Arg)
NM_004737.6(LARGE1):c.1420G>A (p.Val474Ile) rs150861748
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.178C>T (p.Arg60Trp) rs142135345
NM_004737.6(LARGE1):c.1962G>A (p.Glu654=) rs141089495
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.2073+11C>T rs774384587
NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) rs116164106
NM_004737.6(LARGE1):c.2208G>A (p.Gln736=) rs759427879
NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) rs398124184
NM_004737.6(LARGE1):c.26G>A (p.Arg9Gln) rs763697782
NM_004737.6(LARGE1):c.506A>G (p.His169Arg) rs886057461
NM_004737.6(LARGE1):c.552G>A (p.Thr184=) rs8142483
NM_004737.6(LARGE1):c.857G>A (p.Arg286His) rs200035534

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.