CASK[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703127	NM_001367721.1(CASK):c.*1317G>A	CASK	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1795741	NM_001367721.1(CASK):c.2781G>A (p.Ter927=)	CASK	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2573781	NM_001367721.1(CASK):c.2776_2777insTA (p.Tyr926fs)	CASK (Y897fs +4 more)	Insertion (frameshift variant)	not provided	GUncertain significance
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 523767	NM_001367721.1(CASK):c.2757G>A (p.Trp919Ter)	CASK (W914* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 11535	NM_001367721.1(CASK):c.2755T>C (p.Trp919Arg)	CASK (W914R +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GPathogenic
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 1306199	NM_001367721.1(CASK):c.2743A>G (p.Thr915Ala)	CASK (T886A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 451277	NM_001367721.1(CASK):c.2737G>A (p.Val913Met)	CASK (V908M +4 more)	Single nucleotide variant (missense variant)	not provided	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 2583079	NM_001367721.1(CASK):c.2725G>A (p.Ala909Thr)	CASK (A880T +4 more)	Single nucleotide variant (missense variant)	not provided	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 1710662	NM_001367721.1(CASK):c.2707A>G (p.Ile903Val)	CASK (I874V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2501526	NM_001367721.1(CASK):c.2686A>G (p.Asn896Asp)	CASK (N867D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2502362	NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)	CASK (T864fs +4 more)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
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 1810280	NM_001367721.1(CASK):c.2678C>A (p.Thr893Lys)	CASK (T864K +4 more)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
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 1303456	NM_001367721.1(CASK):c.2662C>T (p.His888Tyr)	CASK (H859Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 279991	NM_001367721.1(CASK):c.2645T>G (p.Leu882Ter)	CASK (L877* +4 more)	Single nucleotide variant (nonsense)	not provided	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 2628483	NM_001367721.1(CASK):c.2629_2631del (p.Lys877del)	CASK (K848del +4 more)	Deletion (inframe_deletion)	CASK-related condition	GUncertain significance
Select item 976216	NM_001367721.1(CASK):c.2621G>A (p.Arg874His)	CASK (R845H +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 977904	NM_001367721.1(CASK):c.2608del (p.Glu870fs)	CASK (E841fs +3 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
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 1211850	NM_001367721.1(CASK):c.2604+210C>T	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295699	NM_001367721.1(CASK):c.2604+203G>A	CASK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218664	NM_001367721.1(CASK):c.2604+71C>T	CASK	Single nucleotide variant (intron variant)	not provided	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 668459	NM_001367721.1(CASK):c.2604+7A>C	CASK	Single nucleotide variant (intron variant)	not provided	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 433537	NM_001367721.1(CASK):c.2604+1G>T	CASK	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
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 1684815	NM_001367721.1(CASK):c.2569A>G (p.Ile857Val)	CASK (I828V +4 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 619127	NM_001367721.1(CASK):c.2561T>C (p.Val854Ala)	CASK (V849A +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4 +1 more	GLikely pathogenic
Select item 2229537	NM_001367721.1(CASK):c.2560G>A (p.Val854Ile)	CASK (V848I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434586	NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs)	CASK (F822fs +3 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 210586	NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs)	CASK (E849fs +3 more)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
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 1333438	NM_001367721.1(CASK):c.2530G>T (p.Val844Phe)	CASK (V815F +4 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 265594	NM_001367721.1(CASK):c.2527A>T (p.Lys843Ter)	CASK (K838* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 265316	NM_001367721.1(CASK):c.2521-2A>G	CASK	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 29938	NM_001367721.1(CASK):c.2521-2A>T	CASK	Single nucleotide variant (splice acceptor variant)	not specified	GBenign
Select item 2431222	NM_001367721.1(CASK):c.2521-6A>G	CASK	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 1174887	NM_001367721.1(CASK):c.2521-11dup	CASK	Duplication (intron variant)	not provided	GBenign
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 3068646	NM_001367721.1(CASK):c.2521-11del	CASK	Deletion (intron variant)	FG syndrome	GBenign
Select item 1185943	NM_001367721.1(CASK):c.2521-11T>C	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214648	NM_001367721.1(CASK):c.2521-162T>C	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232398	NM_001367721.1(CASK):c.2521-168G>A	CASK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2660346	NM_001367721.1(CASK):c.2520+1468G>A	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660347	NM_001367721.1(CASK):c.2520+1427A>G	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 208685	NM_001367721.1(CASK):c.2486A>G (p.Gln829Arg)	CASK (Q824R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 158074	NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter)	CASK (Q824* +4 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2498035	NM_001367721.1(CASK):c.2482G>A (p.Glu828Lys)	CASK (E799K +4 more)	Single nucleotide variant (missense variant)	not provided	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 1693073	NM_001367721.1(CASK):c.2452A>T (p.Thr818Ser)	CASK (T789S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2504187	NM_001367721.1(CASK):c.2446T>C (p.Tyr816His)	CASK (Y787H +4 more)	Single nucleotide variant (missense variant)	not provided	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 2630033	NM_001367721.1(CASK):c.2440del (p.Ala814fs)	CASK (A785fs +4 more)	Deletion (frameshift variant)	CASK-related condition	GLikely pathogenic
Select item 1330235	NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln)	CASK (E783Q +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
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

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