"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981294	NM_001367721.1(CASK):c.2381A>T (p.Asp794Val)	CASK (D765V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1701076	NM_001367721.1(CASK):c.1847A>G (p.Tyr616Cys)	CASK (Y587C +3 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 981437	NM_001367721.1(CASK):c.1501A>G (p.Met501Val)	CASK (M495V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 537749	NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser)	CASK (G470S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GUncertain significance
Select item 981293	NM_001367721.1(CASK):c.875_877del (p.Val292del)	CASK (V292del)	Deletion (inframe_indel +1 more)	Intellectual disability	GLikely pathogenic
Select item 976147	NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)	CASK (G206S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 981292	NM_001367721.1(CASK):c.490G>C (p.Gly164Arg)	CASK (G164R)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic

ClinVar