List of variants in gene CASK reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 Xp11.4(chrX:41485589-41486197)x1
NM_001367721.1(CASK):c.1015+1G>A
NM_001367721.1(CASK):c.1195del (p.Arg399fs)	rs1555989338
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)	rs1114167352
NM_001367721.1(CASK):c.1469del (p.Leu490fs)
NM_001367721.1(CASK):c.1480C>T (p.Gln494Ter)	rs1064796879
NM_001367721.1(CASK):c.1504-2A>C	rs1057524485
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)	rs1555981717
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs)	rs1569306724
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)	rs779508996
NM_001367721.1(CASK):c.184del (p.Glu62fs)	rs1556121448
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)	rs1555980033
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)	rs137852815
NM_001367721.1(CASK):c.1972C>T (p.Gln658Ter)	rs2147138406
NM_001367721.1(CASK):c.1A>T (p.Met1Leu)	rs1556313516
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)	rs587783360
NM_001367721.1(CASK):c.2100G>A (p.Trp700Ter)	rs886039702
NM_001367721.1(CASK):c.2155+2T>C	rs1555977195
NM_001367721.1(CASK):c.2191GTA[1] (p.Val732del)	rs1064796488
NM_001367721.1(CASK):c.21dup (p.Phe8fs)	rs1556313509
NM_001367721.1(CASK):c.2270dup (p.Asn757fs)	rs886041645
NM_001367721.1(CASK):c.2317+1G>A	rs1555975458
NM_001367721.1(CASK):c.2344G>T (p.Glu782Ter)	rs746017736
NM_001367721.1(CASK):c.2383C>T (p.Gln795Ter)	rs1057518245
NM_001367721.1(CASK):c.2521-2A>G	rs398122845
NM_001367721.1(CASK):c.2527A>T (p.Lys843Ter)	rs886039651
NM_001367721.1(CASK):c.2645T>G (p.Leu882Ter)	rs886041306
NM_001367721.1(CASK):c.2757G>A (p.Trp919Ter)	rs1555971887
NM_001367721.1(CASK):c.285_288del (p.Asp95fs)	rs1602560972
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)	rs387906704
NM_001367721.1(CASK):c.429+1G>A	rs886041153
NM_001367721.1(CASK):c.523dup (p.Val175fs)	rs886041284
NM_001367721.1(CASK):c.543_548delinsTCCTACATAAATGACGTAGGTG (p.Thr182_Pro183delinsProThrTer)	rs1602431663
NM_001367721.1(CASK):c.553_565del (p.Phe185fs)	rs1556014805
NM_001367721.1(CASK):c.59+2T>C	rs1064796344
NM_001367721.1(CASK):c.609G>A (p.Trp203Ter)	rs886039474
NM_001367721.1(CASK):c.660C>G (p.Tyr220Ter)	rs747587301
NM_001367721.1(CASK):c.763C>T (p.Arg255Cys)	rs1064794937
NM_001367721.1(CASK):c.764G>A (p.Arg255His)	rs587783369
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)	rs794727270
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)	rs587783370
NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter)	rs886128077

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