ClinVar Miner

List of variants in gene L1CAM reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
NM_000425.4(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_000425.4(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_000425.4(L1CAM):c.1792G>A (p.Asp598Asn) rs137852519
NM_000425.4(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_000425.4(L1CAM):c.2432-19A>C rs879253713
NM_000425.4(L1CAM):c.3458-1G>C rs879253724
NM_000425.4(L1CAM):c.3489_3490delTG (p.Glu1164Glyfs) rs879253714
NM_000425.4(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_000425.4(L1CAM):c.536T>G (p.Ile179Ser) rs137852523
NM_000425.4(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_000425.4(L1CAM):c.630C>A (p.His210Gln) rs28933683
NM_000425.4(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_000425.4(L1CAM):c.791G>A (p.Cys264Tyr) rs137852518
NM_000425.4(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001278116.1(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673

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.