"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CASK-AS - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 959257	NM_001367721.1(CASK):c.2777A>G (p.Tyr926Cys)	CASK, CASK-AS1 (Y898C +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1964785	NM_001367721.1(CASK):c.2767T>A (p.Ser923Thr)	CASK, CASK-AS1 (S894T +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2126680	NM_001367721.1(CASK):c.2754G>A (p.Gln918=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2189274	NM_001367721.1(CASK):c.2751A>G (p.Pro917=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2113891	NM_001367721.1(CASK):c.2741G>A (p.Cys914Tyr)	CASK, CASK-AS1 (C885Y +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2123336	NM_001367721.1(CASK):c.2736C>T (p.Leu912=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 658905	NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe)	CASK, CASK-AS1 (L883F +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2858434	NM_001367721.1(CASK):c.2718G>A (p.Leu906=)	CASK-AS1, CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2784075	NM_001367721.1(CASK):c.2691T>G (p.Asn897Lys)	CASK, CASK-AS1 (N868K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2130193	NM_001367721.1(CASK):c.2688C>T (p.Asn896=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 662517	NM_001367721.1(CASK):c.2680A>G (p.Ile894Val)	CASK, CASK-AS1 (I866V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1135270	NM_001367721.1(CASK):c.2679A>G (p.Thr893=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2034510	NM_001367721.1(CASK):c.2676C>G (p.Leu892=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 590167	NM_001367721.1(CASK):c.2670C>T (p.Phe890=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1919556	NM_001367721.1(CASK):c.2668T>G (p.Phe890Val)	CASK, CASK-AS1 (F861V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2818789	NM_001367721.1(CASK):c.2658T>C (p.Tyr886=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 833975	NM_001367721.1(CASK):c.2656T>C (p.Tyr886His)	CASK, CASK-AS1 (Y881H +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2138554	NM_001367721.1(CASK):c.2647C>T (p.Gln883Ter)	CASK, CASK-AS1 (Q854* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability, CASK-related, X-linked	GPathogenic
Select item 2893586	NM_001367721.1(CASK):c.2634G>A (p.Glu878=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1568426	NM_001367721.1(CASK):c.2605-12A>G	CASK, CASK-AS1	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2031755	NM_001367721.1(CASK):c.2605-14del	CASK, CASK-AS1	Deletion (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1623523	NM_001367721.1(CASK):c.2605-17A>G	CASK, CASK-AS1	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign

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Items: 22