ClinVar Miner

List of variants in gene CASK 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: 33
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HGVS dbSNP
NG_016754.1:g.5000-?_5105+?del
NM_003688.3(CASK):c.109C>T (p.Gln37Ter) rs1556254569
NM_003688.3(CASK):c.1315-7A>G rs1555986221
NM_003688.3(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_003688.3(CASK):c.1644_1645del (p.Val549Glyfs) rs587783357
NM_003688.3(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_003688.3(CASK):c.1864G>T (p.Glu622Ter) rs1555980033
NM_003688.3(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_003688.3(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_003688.3(CASK):c.1981del (p.Leu661Trpfs) rs797045431
NM_003688.3(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_003688.3(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_003688.3(CASK):c.20_27del (p.Leu7Argfs) rs587783362
NM_003688.3(CASK):c.2120dup (p.Tyr708Valfs)
NM_003688.3(CASK):c.2302+1G>A rs1555975458
NM_003688.3(CASK):c.2303-2A>G rs863224854
NM_003688.3(CASK):c.2377C>T (p.Gln793Ter) rs749742837
NM_003688.3(CASK):c.2470C>T (p.Gln824Ter) rs587783364
NM_003688.3(CASK):c.2531_2532del (p.Glu844Valfs) rs797045433
NM_003688.3(CASK):c.2534_2535del (p.Phe845Cysfs) rs1555972628
NM_003688.3(CASK):c.2589+1G>T rs1555972599
NM_003688.3(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_003688.3(CASK):c.430-2A>T rs587783366
NM_003688.3(CASK):c.533-2A>G
NM_003688.3(CASK):c.626T>C (p.Leu209Pro) rs1556014749
NM_003688.3(CASK):c.68del (p.Phe23Serfs) rs1135401762
NM_003688.3(CASK):c.708+1G>A rs587783368
NM_003688.3(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_003688.3(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_003688.3(CASK):c.880C>T (p.Gln294Ter) rs587783371
NM_003688.3(CASK):c.915G>A (p.Lys305=) rs387906499
NM_003688.3:c.116_117delCA

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