"CASK-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628483	NM_001367721.1(CASK):c.2629_2631del (p.Lys877del)	CASK (K848del +4 more)	Deletion (inframe_deletion)	CASK-related disorder	GUncertain significance
Select item 158073	NM_001367721.1(CASK):c.2442G>A (p.Ala814=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +4 more	GBenign
Select item 2630033	NM_001367721.1(CASK):c.2440del (p.Ala814fs)	CASK (A785fs +4 more)	Deletion (frameshift variant)	CASK-related disorder	GLikely pathogenic
Select item 287834	NM_001367721.1(CASK):c.2317+9T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 470209	NM_001367721.1(CASK):c.2175T>C (p.Leu725=)	CASK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 590045	NM_001367721.1(CASK):c.2172T>C (p.Asp724=)	CASK	Single nucleotide variant (synonymous variant)	CASK-related disorder +2 more	GBenign/Likely benign
Select item 94375	NM_001367721.1(CASK):c.1794C>T (p.Asn598=)	CASK	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1086270	NM_001367721.1(CASK):c.1669-5T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked +1 more	GLikely benign
Select item 995063	NM_001367721.1(CASK):c.1669-7C>G	CASK	Single nucleotide variant (intron variant)	CASK-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 502248	NM_001367721.1(CASK):c.1669-8C>G	CASK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 283848	NM_001367721.1(CASK):c.1669-9C>A	CASK	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1637397	NM_001367721.1(CASK):c.1668+10T>C	CASK	Single nucleotide variant (intron variant)	CASK-related disorder +1 more	GBenign/Likely benign
Select item 2632769	NM_001367721.1(CASK):c.1668+5G>A	CASK	Single nucleotide variant (intron variant)	CASK-related disorder	GLikely pathogenic
Select item 718216	NM_001367721.1(CASK):c.1392C>T (p.Thr464=)	CASK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 225085	NM_001367721.1(CASK):c.1289G>A (p.Arg430His)	CASK (R430H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +3 more	GConflicting classifications of pathogenicity
Select item 210580	NM_001367721.1(CASK):c.1125C>T (p.Phe375=)	CASK	Single nucleotide variant (synonymous variant)	CASK-related disorder +4 more	GBenign
Select item 194051	NM_001367721.1(CASK):c.1077G>A (p.Ala359=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +4 more	GConflicting classifications of pathogenicity
Select item 166795	NM_001367721.1(CASK):c.891A>G (p.Lys297=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +4 more	GConflicting classifications of pathogenicity
Select item 3036853	NM_001367721.1(CASK):c.885G>A (p.Leu295=)	CASK	Single nucleotide variant (synonymous variant)	CASK-related disorder	GLikely benign
Select item 2871226	NM_001367721.1(CASK):c.832-4A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked +1 more	GLikely benign

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Items: 20