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
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HGVS dbSNP
L1CAM, 1.3-KB DUP
NM_000425.3:c.749delG
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_000425.5(L1CAM):c.3166+1G>A
NM_001278116.1(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673

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