ClinVar Miner

List of variants in gene CASK reported as likely pathogenic for FG syndrome

Included ClinVar conditions (14):

Aarskog syndrome
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1
FG syndrome
FG syndrome 1
FG syndrome 2
FG syndrome 4
Intellectual developmental disorder, X-linked, syndromic 16
Syndromic X-linked intellectual disability Najm type; FG syndrome 4
Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
X-linked intellectual disability with marfanoid habitus; Blepharophimosis - intellectual disability syndrome, MKB type; FG syndrome
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome; MED12-related intellectual disability syndrome

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001367721.1(CASK):c.1082C>T (p.Thr361Ile)
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)	rs1602292076
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)	rs779508996
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)	rs137852818
NM_001367721.1(CASK):c.2317+5G>A	rs2147095645
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala)	rs1569283243
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)	rs2067099763
NM_001367721.1(CASK):c.764G>A (p.Arg255His)	rs587783369

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