CN043158[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 959257	NM_001367721.1(CASK):c.2777A>G (p.Tyr926Cys)	CASK (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 (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	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	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 (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	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 (L883F +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2858434	NM_001367721.1(CASK):c.2718G>A (p.Leu906=)	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 (N868K +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2130193	NM_001367721.1(CASK):c.2688C>T (p.Asn896=)	CASK	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 (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	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	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	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 (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	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 (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 (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	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	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2031755	NM_001367721.1(CASK):c.2605-14del	CASK	Deletion (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1623523	NM_001367721.1(CASK):c.2605-17A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2813359	NM_001367721.1(CASK):c.2604+20T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 933930	NM_001367721.1(CASK):c.2604+5G>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1515411	NM_001367721.1(CASK):c.2604+3A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 755555	NM_001367721.1(CASK):c.2589T>G (p.Thr863=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 470211	NM_001367721.1(CASK):c.2589T>A (p.Thr863=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 470210	NM_001367721.1(CASK):c.2588C>T (p.Thr863Ile)	CASK (T858I +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1970101	NM_001367721.1(CASK):c.2576C>T (p.Ala859Val)	CASK (A831V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2794695	NM_001367721.1(CASK):c.2573C>T (p.Ala858Val)	CASK (A852V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1718648	NM_001367721.1(CASK):c.2572G>A (p.Ala858Thr)	CASK (A829T +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1041379	NM_001367721.1(CASK):c.2540C>T (p.Thr847Ile)	CASK (T819I +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1533477	NM_001367721.1(CASK):c.2526G>A (p.Leu842=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 749457	NM_001367721.1(CASK):c.2521-10_2521-8del	CASK	Deletion (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1169740	NM_001367721.1(CASK):c.2521-10C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked +1 more	GBenign
Select item 1643180	NM_001367721.1(CASK):c.2520+19G>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1617448	NM_001367721.1(CASK):c.2520+10A>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2178182	NM_001367721.1(CASK):c.2520+8C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1612853	NM_001367721.1(CASK):c.2511G>C (p.Val837=)	CASK	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1184132	NM_001367721.1(CASK):c.2509G>A (p.Val837Met)	CASK (V808M +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GUncertain significance
Select item 1166711	NM_001367721.1(CASK):c.2508C>T (p.Asp836=)	CASK	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2176634	NM_001367721.1(CASK):c.2505G>A (p.Leu835=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1315450	NM_001367721.1(CASK):c.2501T>C (p.Ile834Thr)	CASK (I805T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313197	NM_001367721.1(CASK):c.2497G>A (p.Ala833Thr)	CASK (A804T +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GUncertain significance
Select item 1085138	NM_001367721.1(CASK):c.2490G>A (p.Gly830=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1204593	NM_001367721.1(CASK):c.2489G>A (p.Gly830Glu)	CASK (G801E +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GUncertain significance
Select item 1164614	NM_001367721.1(CASK):c.2481C>T (p.His827=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 872826	NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln)	CASK (R819Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 590126	NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp)	CASK (R819W +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 2766122	NM_001367721.1(CASK):c.2449G>A (p.Gly817Arg)	CASK (G817R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1993215	NM_001367721.1(CASK):c.2444T>A (p.Met815Lys)	CASK (M810K +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 2826589	NM_001367721.1(CASK):c.2442G>T (p.Ala814=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 158073	NM_001367721.1(CASK):c.2442G>A (p.Ala814=)	CASK	Single nucleotide variant (synonymous variant)	CASK-related condition +4 more	GBenign
Select item 944372	NM_001367721.1(CASK):c.2434G>A (p.Glu812Lys)	CASK (E812K +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 388002	NM_001367721.1(CASK):c.2433C>T (p.His811=)	CASK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1438451	NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +3 more	GLikely benign
Select item 968166	NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)	CASK (E775K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 763021	NM_001367721.1(CASK):c.2409C>T (p.Asn803=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +1 more	GBenign/Likely benign
Select item 1466498	NM_001367721.1(CASK):c.2384A>G (p.Gln795Arg)	CASK (Q766R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1480144	NM_001367721.1(CASK):c.2382C>G (p.Asp794Glu)	CASK (D766E +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1017817	NM_001367721.1(CASK):c.2358G>T (p.Lys786Asn)	CASK (K757N +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1598889	NM_001367721.1(CASK):c.2343C>T (p.Asp781=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 1013981	NM_001367721.1(CASK):c.2343C>G (p.Asp781Glu)	CASK (D752E +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 210584	NM_001367721.1(CASK):c.2325C>T (p.Thr775=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 2963478	NM_001367721.1(CASK):c.2318-10G>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1328836	NM_001367721.1(CASK):c.2318-11C>T	CASK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2991596	NM_001367721.1(CASK):c.2318-12G>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2919753	NM_001367721.1(CASK):c.2318-16C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1570742	NM_001367721.1(CASK):c.2317+20C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2910246	NM_001367721.1(CASK):c.2317+14C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GBenign
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 446289	NM_001367721.1(CASK):c.2317+1G>A	CASK	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 94376	NM_001367721.1(CASK):c.2317C>T (p.His773Tyr)	CASK (H768Y +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1536508	NM_001367721.1(CASK):c.2304G>A (p.Ala768=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1484983	NM_001367721.1(CASK):c.2303C>T (p.Ala768Val)	CASK (A739V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 282560	NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)	CASK (R761Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1788946	NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp)	CASK (R761W +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +2 more	GUncertain significance
Select item 2125757	NM_001367721.1(CASK):c.2288A>T (p.His763Leu)	CASK (H735L +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 434589	NM_001367721.1(CASK):c.2277C>T (p.Leu759=)	CASK	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 930925	NM_001367721.1(CASK):c.2243A>G (p.His748Arg)	CASK (H719R +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4 +1 more	GUncertain significance
Select item 1473691	NM_001367721.1(CASK):c.2237-2A>G	CASK	Single nucleotide variant (splice acceptor variant)	Intellectual disability, CASK-related, X-linked	GLikely pathogenic
Select item 3009985	NM_001367721.1(CASK):c.2237-12T>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2985590	NM_001367721.1(CASK):c.2236+13G>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2814577	NM_001367721.1(CASK):c.2236+11T>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2798048	NM_001367721.1(CASK):c.2236+6T>G	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 580046	NM_001367721.1(CASK):c.2227G>C (p.Val743Leu)	CASK (V738L +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 1512582	NM_001367721.1(CASK):c.2224C>A (p.Leu742Ile)	CASK (L713I +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 949416	NM_001367721.1(CASK):c.2214G>T (p.Lys738Asn)	CASK (K738N +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 2841899	NM_001367721.1(CASK):c.2213A>C (p.Lys738Thr)	CASK (K710T +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GBenign
Select item 1315474	NM_001367721.1(CASK):c.2192T>C (p.Val731Ala)	CASK (V702A +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GUncertain significance
Select item 2698256	NM_001367721.1(CASK):c.2190A>C (p.Glu730Asp)	CASK (E702D +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 1084026	NM_001367721.1(CASK):c.2184T>C (p.Tyr728=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1390988	NM_001367721.1(CASK):c.2179A>C (p.Thr727Pro)	CASK (T699P +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
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)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2804478	NM_001367721.1(CASK):c.2155+19G>C	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 2902326	NM_001367721.1(CASK):c.2155+5_2155+6del	CASK	Deletion (intron variant)	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 537751	NM_001367721.1(CASK):c.2155+4G>A	CASK	Single nucleotide variant (intron variant)	CASK-related disorders +1 more	GConflicting classifications of pathogenicity
Select item 537753	NM_001367721.1(CASK):c.2142A>T (p.Ala714=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked	GLikely benign
Select item 1440705	NM_001367721.1(CASK):c.2138T>A (p.Leu713Ter)	CASK (L690* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, CASK-related, X-linked	GPathogenic

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