Cnksr2 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

228 records found for search term Cnksr2

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
598201119	CV3892745	single nucleotide variant	NM_014927.5(CNKSR2):c.-1C>G	not provided [RCV005254578]	uncertain significance	X	21374897	21374897	Human		name
329953375	CV2668349	single nucleotide variant	NM_014927.5(CNKSR2):c.741+4A>G	not provided [RCV003230002]	uncertain significance	X	21497850	21497850	Human		name
401746615	CV2694892	single nucleotide variant	NM_014927.5(CNKSR2):c.561+2T>G	Inborn genetic diseases [RCV003242031]	uncertain significance	X	21470809	21470809	Human	1	name
405289277	CV3205039	single nucleotide variant	NM_014927.5(CNKSR2):c.681+9T>C	CNKSR2-related disorder [RCV003961656]	likely benign	X	21490587	21490587	Human		name , trait , alternate_id
405664093	CV3305353	single nucleotide variant	NM_014927.5(CNKSR2):c.958-5A>G	Inborn genetic diseases [RCV004439875]	uncertain significance	X	21526862	21526862	Human	1	name
598122476	CV3889882	single nucleotide variant	NM_014927.5(CNKSR2):c.742-1G>A	Intellectual disability, X-linked, syndromic, Houge type [RCV005247986]	pathogenic	X	21501519	21501519	Human	1	name
14395704	CV611469	single nucleotide variant	NM_014927.5(CNKSR2):c.228+1G>A	Intellectual disability [RCV000760277]	likely pathogenic	X	21426661	21426661	Human	2	name
40814463	CV969430	single nucleotide variant	NM_014927.5(CNKSR2):c.958-1G>A	Intellectual disability [RCV001260688]	uncertain significance	X	21526866	21526866	Human	2	name
150424499	CV1185767	single nucleotide variant	NM_014927.5(CNKSR2):c.1905-2A>G	not provided [RCV001556739]	pathogenic	X	21595322	21595322	Human		name
155645225	CV1706809	single nucleotide variant	NM_014927.5(CNKSR2):c.1904+6T>C	Intellectual disability, X-linked, syndromic, Houge type [RCV002287882]	uncertain significance	X	21595053	21595053	Human	1	name
401940486	CV2839348	single nucleotide variant	NM_014927.5(CNKSR2):c.1657+1G>A	Intellectual disability, X-linked, syndromic, Houge type [RCV003448921]	likely pathogenic	X	21590621	21590621	Human	1	name
408383921	CV3506116	single nucleotide variant	NM_014927.5(CNKSR2):c.1905-1G>A	CNKSR2-related disorder [RCV004731403]	likely pathogenic	X	21595323	21595323	Human		name , trait , alternate_id
408385429	CV3520142	single nucleotide variant	NM_014927.5(CNKSR2):c.1976+3A>T	not provided [RCV004759963]	uncertain significance	X	21595398	21595398	Human		name
12894416	CV411251	single nucleotide variant	NM_014927.5(CNKSR2):c.2145+1G>A	not provided [RCV000482744]	pathogenic	X	21606880	21606880	Human		name
13508865	CV481328	single nucleotide variant	NM_014927.5(CNKSR2):c.1303+1G>C	X-linked recessive seizure and neurodevelopmental deficit [RCV000578363]	likely pathogenic	X	21532068	21532068	Human		name
40814464	CV969431	single nucleotide variant	NM_014927.5(CNKSR2):c.1977-1G>A	Intellectual disability [RCV001260689]	pathogenic	X	21601281	21601281	Human	2	name
596920475	CV3534620	single nucleotide variant	NM_014927.5(CNKSR2):c.1905-17T>G	not specified [RCV004782181]	likely benign	X	21595307	21595307	Human		name
598127998	CV3883013	single nucleotide variant	NM_014927.5(CNKSR2):c.1657+20C>T	Intellectual disability, X-linked, syndromic, Houge type [RCV005234546]	benign	X	21590640	21590640	Human	1	name
8587323	CV121950	single nucleotide variant	NM_014927.3(CNKSR2):c.682-3148A>T	Lung cancer [RCV000102470]	uncertain significance	X	21494639	21494639	Human		name
155961983	CV1936579	single nucleotide variant	NM_014927.5(CNKSR2):c.1657+169A>T	not provided [RCV002512398]	likely benign	X	21590789	21590789	Human		name
408366296	CV3500170	deletion	NM_014927.5(CNKSR2):c.2693-43_2703del	not provided [RCV004722213]	pathogenic	X	21648788	21648841	Human		name
596927918	CV3541192	deletion	NM_014927.5(CNKSR2):c.1394-13_1423del	Intellectual disability, X-linked, syndromic, Houge type [RCV004797063]	likely pathogenic	X	21563225	21563267	Human	1	name
10050801	CV192464	single nucleotide variant	NM_014927.5(CNKSR2):c.192A>G (p.Glu64=)	not provided [RCV000175866]	uncertain significance	X	21426624	21426624	Human		name
8642563	CV101547	single nucleotide variant	NM_014927.5(CNKSR2):c.651A>G (p.Gln217=)	not provided [RCV004713253]\|not specified [RCV000081683]	benign	X	21490548	21490548	Human		name
150529490	CV1289037	single nucleotide variant	NM_014927.5(CNKSR2):c.672C>T (p.Ser224=)	not provided [RCV001727506]	likely benign	X	21490569	21490569	Human		name
11632727	CV265046	deletion	NM_014927.5(CNKSR2):c.114del (p.Ile39fs)	not provided [RCV000280490]	pathogenic	X	21426546	21426546	Human		name
401931203	CV2821333	single nucleotide variant	NM_014927.5(CNKSR2):c.363A>G (p.Pro121=)	not provided [RCV003441132]	likely benign	X	21432746	21432746	Human		name
401931204	CV2821334	single nucleotide variant	NM_014927.5(CNKSR2):c.714C>G (p.Leu238=)	not provided [RCV003441133]	uncertain significance	X	21497819	21497819	Human		name
405260537	CV3185798	single nucleotide variant	NM_014927.5(CNKSR2):c.435A>G (p.Ser145=)	not provided [RCV003884874]	likely benign	X	21440697	21440697	Human		name
405853343	CV3392670	single nucleotide variant	NM_014927.5(CNKSR2):c.477T>C (p.Asn159=)	not specified [RCV004526395]	likely benign	X	21440739	21440739	Human		name
596924028	CV3532085	single nucleotide variant	NM_014927.5(CNKSR2):c.41G>C (p.Ser14Thr)	not provided [RCV004777196]	uncertain significance	X	21374938	21374938	Human		name
597632252	CV3552808	single nucleotide variant	NM_014927.5(CNKSR2):c.35C>T (p.Ser12Phe)	not provided [RCV004823636]	uncertain significance	X	21374932	21374932	Human		name
597656713	CV3729692	single nucleotide variant	NM_014927.5(CNKSR2):c.76T>C (p.Cys26Arg)	Intellectual disability, X-linked, syndromic, Houge type [RCV005041723]	uncertain significance	X	21426508	21426508	Human	1	name
597832945	CV3734776	single nucleotide variant	NM_014927.5(CNKSR2):c.57G>A (p.Trp19Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV005054509]	likely pathogenic	X	21374954	21374954	Human	1	name
598129906	CV3887330	single nucleotide variant	NM_014927.5(CNKSR2):c.765A>G (p.Lys255=)	not provided [RCV005245391]	likely benign	X	21501543	21501543	Human		name
15157607	CV717754	single nucleotide variant	NM_014927.5(CNKSR2):c.525T>C (p.Cys175=)	CNKSR2-related disorder [RCV003936078]\|not provided [RCV000969339]	benign	X	21470771	21470771	Human	1	name , trait , alternate_id
38461035	CV920004	single nucleotide variant	NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn)	Intellectual disability, X-linked, syndromic, Houge type [RCV001197185]	uncertain significance	X	21426505	21426505	Human	1	name
8642562	CV101546	single nucleotide variant	NM_014927.5(CNKSR2):c.2199G>A (p.Thr733=)	not provided [RCV000081682]	conflicting interpretations of pathogenicity\|uncertain significance	X	21609124	21609124	Human		name
150424668	CV1185768	single nucleotide variant	NM_014927.5(CNKSR2):c.2145G>T (p.Ser715=)	not provided [RCV001556966]	uncertain significance	X	21606879	21606879	Human		name
150488650	CV1274828	single nucleotide variant	NM_014927.5(CNKSR2):c.1677C>T (p.Ser559=)	CNKSR2-related disorder [RCV003941089]\|not provided [RCV001699914]	likely benign	X	21591041	21591041	Human	1	name , trait , alternate_id
151353633	CV1327185	single nucleotide variant	NM_014927.5(CNKSR2):c.1497G>A (p.Lys499=)	Intellectual disability, X-linked, syndromic, Houge type [RCV005232674]\|not specified [RCV001817129]	likely benign	X	21563341	21563341	Human	1	name
152977791	CV1671150	single nucleotide variant	NM_014927.5(CNKSR2):c.176G>A (p.Arg59His)	Intellectual disability, X-linked, syndromic, Houge type [RCV002226824]	uncertain significance	X	21426608	21426608	Human	1	name
9681827	CV167465	duplication	NM_014927.5(CNKSR2):c.453dup (p.Asp152fs)	Intellectual disability, X-linked, syndromic, Houge type [RCV000144938]	pathogenic\|uncertain significance\|not provided	X	21440714	21440715	Human	1	name
153302391	CV1689591	single nucleotide variant	NM_014927.5(CNKSR2):c.278A>G (p.Asn93Ser)	not provided [RCV002267542]	uncertain significance	X	21432661	21432661	Human		name
155644726	CV1710363	single nucleotide variant	NM_014927.5(CNKSR2):c.286G>A (p.Ala96Thr)	not provided [RCV002293659]	uncertain significance	X	21432669	21432669	Human		name
11642715	CV268133	single nucleotide variant	NM_014927.5(CNKSR2):c.1458A>G (p.Arg486=)	not provided [RCV000380649]	conflicting interpretations of pathogenicity\|uncertain significance	X	21563302	21563302	Human		name
401931207	CV2821336	single nucleotide variant	NM_014927.5(CNKSR2):c.2154C>T (p.Cys718=)	not provided [RCV003441135]	likely benign	X	21609079	21609079	Human		name
405265130	CV3185494	single nucleotide variant	NM_014927.5(CNKSR2):c.1749G>A (p.Ala583=)	not provided [RCV003886058]	likely benign	X	21591113	21591113	Human		name
405265591	CV3220750	single nucleotide variant	NM_014927.5(CNKSR2):c.2007A>G (p.Ala669=)	CNKSR2-related disorder [RCV003968940]	likely benign	X	21601312	21601312	Human		name , trait , alternate_id
405664044	CV3305345	single nucleotide variant	NM_014927.5(CNKSR2):c.119G>A (p.Ser40Asn)	Inborn genetic diseases [RCV004439867]	uncertain significance	X	21426551	21426551	Human	1	name
405664060	CV3305347	single nucleotide variant	NM_014927.5(CNKSR2):c.179T>C (p.Ile60Thr)	Inborn genetic diseases [RCV004439869]	uncertain significance	X	21426611	21426611	Human	1	name
407428020	CV3412298	single nucleotide variant	NM_014927.5(CNKSR2):c.196A>G (p.Ile66Val)	not provided [RCV004593466]	uncertain significance	X	21426628	21426628	Human		name
407573234	CV3499012	single nucleotide variant	NM_014927.5(CNKSR2):c.1809T>G (p.Leu603=)	not specified [RCV004699982]	likely benign	X	21591173	21591173	Human		name
408368766	CV3500315	single nucleotide variant	NM_014927.5(CNKSR2):c.187C>T (p.Gln63Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV004723655]	pathogenic	X	21426619	21426619	Human	1	name
408367647	CV3511039	single nucleotide variant	NM_014927.5(CNKSR2):c.2019A>G (p.Glu673=)	CNKSR2-related disorder [RCV004759058]	likely benign	X	21601324	21601324	Human		name , trait , alternate_id
408382080	CV3523996	single nucleotide variant	NM_014927.5(CNKSR2):c.271A>C (p.Lys91Gln)	not provided [RCV004766394]	uncertain significance	X	21432654	21432654	Human		name
598126710	CV3882165	single nucleotide variant	NM_014927.5(CNKSR2):c.187C>A (p.Gln63Lys)	not provided [RCV005233716]	uncertain significance	X	21426619	21426619	Human		name
598222315	CV3893864	single nucleotide variant	NM_014927.5(CNKSR2):c.2553C>T (p.Ser851=)	not provided [RCV005257107]	likely benign	X	21609478	21609478	Human		name
12901416	CV411248	single nucleotide variant	NM_014927.5(CNKSR2):c.136C>T (p.Arg46Cys)	not provided [RCV000484613]	uncertain significance	X	21426568	21426568	Human		name
13518545	CV491249	single nucleotide variant	NM_014927.5(CNKSR2):c.2449C>T (p.Leu817=)	not provided [RCV000898778]\|not specified [RCV000597512]	benign	X	21609374	21609374	Human		name
14395699	CV611445	single nucleotide variant	NM_014927.5(CNKSR2):c.128A>G (p.Gln43Arg)	Intellectual disability [RCV000760271]	uncertain significance	X	21426560	21426560	Human	2	name
15183912	CV729541	single nucleotide variant	NM_014927.5(CNKSR2):c.2926C>T (p.Leu976=)	Intellectual disability, X-linked, syndromic, Houge type [RCV005231937]\|not provided [RCV000886328]	benign	X	21652342	21652342	Human	1	name
15138950	CV743275	single nucleotide variant	NM_014927.5(CNKSR2):c.2610C>T (p.Asp870=)	CNKSR2-related disorder [RCV003968221]\|not provided [RCV000899068]	benign\|likely benign	X	21609535	21609535	Human	1	name , trait , alternate_id
15175385	CV743276	single nucleotide variant	NM_014927.5(CNKSR2):c.2961A>G (p.Gln987=)	not provided [RCV000906200]	likely benign	X	21652377	21652377	Human		name
126736994	CV1001252	deletion	NM_014927.5(CNKSR2):c.1280del (p.Arg427fs)	not provided [RCV001311822]	pathogenic	X	21532044	21532044	Human		name
127272249	CV1065267	single nucleotide variant	NM_014927.5(CNKSR2):c.847C>T (p.Arg283Ter)	not provided [RCV001390410]	pathogenic	X	21516521	21516521	Human		name
127266740	CV1065268	deletion	NM_014927.5(CNKSR2):c.1652del (p.Asn551fs)	not provided [RCV001381769]	pathogenic	X	21590611	21590611	Human		name
150481699	CV1265668	duplication	NM_014927.5(CNKSR2):c.1295dup (p.Thr433fs)	not provided [RCV001682664]	pathogenic	X	21532055	21532056	Human		name
150541787	CV1302373	single nucleotide variant	NM_014927.5(CNKSR2):c.588C>A (p.Asp196Glu)	not provided [RCV001761063]	uncertain significance	X	21490485	21490485	Human		name
150556543	CV1303240	single nucleotide variant	NM_014927.5(CNKSR2):c.868A>G (p.Ile290Val)	not provided [RCV001774433]	uncertain significance	X	21516542	21516542	Human		name
151785460	CV1397132	single nucleotide variant	NM_014927.5(CNKSR2):c.314G>A (p.Gly105Glu)	not provided [RCV001930848]	uncertain significance	X	21432697	21432697	Human		name
156173554	CV1867185	duplication	NM_014927.5(CNKSR2):c.1902dup (p.Tyr635fs)	not provided [RCV002508738]	pathogenic	X	21595039	21595040	Human		name
156254931	CV2264688	single nucleotide variant	NM_014927.5(CNKSR2):c.452C>G (p.Thr151Arg)	Inborn genetic diseases [RCV002831347]	uncertain significance	X	21440714	21440714	Human	1	name
329847981	CV2667600	single nucleotide variant	NM_014927.5(CNKSR2):c.463G>T (p.Val155Phe)	not provided [RCV003229167]	uncertain significance	X	21440725	21440725	Human		name
329953033	CV2669742	single nucleotide variant	NM_014927.5(CNKSR2):c.778G>A (p.Asp260Asn)	not provided [RCV003234366]	uncertain significance	X	21501556	21501556	Human		name
401730478	CV2711342	single nucleotide variant	NM_014927.5(CNKSR2):c.592A>G (p.Ile198Val)	Inborn genetic diseases [RCV003271401]	uncertain significance	X	21490489	21490489	Human	1	name
401931205	CV2821335	single nucleotide variant	NM_014927.5(CNKSR2):c.982A>G (p.Ser328Gly)	not provided [RCV003441134]	uncertain significance	X	21526891	21526891	Human		name
401931210	CV2821339	single nucleotide variant	NM_014927.5(CNKSR2):c.3096G>C (p.Thr1032=)	not provided [RCV003441138]	likely benign	X	21652512	21652512	Human		name
401916779	CV2829485	single nucleotide variant	NM_014927.5(CNKSR2):c.436C>G (p.Pro146Ala)	Inborn genetic diseases [RCV005323433]\|not provided [RCV003443529]	uncertain significance	X	21440698	21440698	Human	1	name
405664086	CV3305352	single nucleotide variant	NM_014927.5(CNKSR2):c.526A>T (p.Thr176Ser)	Inborn genetic diseases [RCV004439874]	uncertain significance	X	21470772	21470772	Human	1	name
405664098	CV3305354	single nucleotide variant	NM_014927.5(CNKSR2):c.959C>T (p.Pro320Leu)	Inborn genetic diseases [RCV004439876]	uncertain significance	X	21526868	21526868	Human	1	name
408385019	CV3520073	single nucleotide variant	NM_014927.5(CNKSR2):c.764A>G (p.Lys255Arg)	not provided [RCV004759894]	uncertain significance	X	21501542	21501542	Human		name
408388656	CV3520847	single nucleotide variant	NM_014927.5(CNKSR2):c.754C>T (p.Arg252Trp)	not provided [RCV004761680]	likely pathogenic	X	21501532	21501532	Human		name
596923332	CV3530335	single nucleotide variant	NM_014927.5(CNKSR2):c.503C>A (p.Thr168Lys)	not provided [RCV004776934]	uncertain significance	X	21440765	21440765	Human		name
596921829	CV3535455	single nucleotide variant	NM_014927.5(CNKSR2):c.423G>A (p.Trp141Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV004785010]	pathogenic	X	21432806	21432806	Human	1	name
596944963	CV3543618	single nucleotide variant	NM_014927.5(CNKSR2):c.607T>C (p.Ser203Pro)	not provided [RCV004801740]	uncertain significance	X	21490504	21490504	Human		name
597631931	CV3653884	single nucleotide variant	NM_014927.5(CNKSR2):c.800A>T (p.His267Leu)	Inborn genetic diseases [RCV004967883]	uncertain significance	X	21501578	21501578	Human	1	name
598223090	CV3892208	single nucleotide variant	NM_014927.5(CNKSR2):c.745C>G (p.Pro249Ala)	Intellectual disability, X-linked, syndromic, Houge type [RCV005253547]	uncertain significance	X	21501523	21501523	Human	1	name
598257466	CV3941225	single nucleotide variant	NM_014927.5(CNKSR2):c.559G>C (p.Val187Leu)	Inborn genetic diseases [RCV005324423]	uncertain significance	X	21470805	21470805	Human	1	name
598257482	CV3941229	single nucleotide variant	NM_014927.5(CNKSR2):c.887G>A (p.Arg296Gln)	Inborn genetic diseases [RCV005324427]	uncertain significance	X	21516561	21516561	Human	1	name
616940124	CV4014569	deletion	NM_014927.5(CNKSR2):c.1661del (p.Pro554fs)	not provided [RCV005414063]	pathogenic	X	21591024	21591024	Human		name
14722539	CV649931	single nucleotide variant	NM_014927.5(CNKSR2):c.896G>A (p.Ser299Asn)	not provided [RCV000813942]\|not specified [RCV001816890]	uncertain significance	X	21516570	21516570	Human		name
15106692	CV786779	single nucleotide variant	NM_014927.5(CNKSR2):c.988G>A (p.Val330Ile)	not provided [RCV000976678]	benign\|likely benign	X	21526897	21526897	Human		name
21070414	CV798253	duplication	NM_014927.5(CNKSR2):c.1517dup (p.Thr507fs)	not provided [RCV000999347]	likely pathogenic	X	21563358	21563359	Human		name
40889836	CV975609	single nucleotide variant	NM_014927.5(CNKSR2):c.298C>T (p.Gln100Ter)	not provided [RCV001268320]	pathogenic	X	21432681	21432681	Human		name
126737004	CV1001253	single nucleotide variant	NM_014927.5(CNKSR2):c.2248A>T (p.Thr750Ser)	not provided [RCV001311823]	likely benign	X	21609173	21609173	Human		name
126726467	CV1018966	single nucleotide variant	NM_014927.5(CNKSR2):c.1447A>G (p.Met483Val)	Intellectual disability, X-linked, syndromic, Houge type [RCV001331986]	uncertain significance	X	21563291	21563291	Human	1	name
126726469	CV1018967	single nucleotide variant	NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His)	Intellectual disability, X-linked, syndromic, Houge type [RCV001331987]	uncertain significance	X	21595038	21595038	Human	1	name
126726472	CV1018968	single nucleotide variant	NM_014927.5(CNKSR2):c.2749G>C (p.Glu917Gln)	Intellectual disability, X-linked, syndromic, Houge type [RCV001331988]	uncertain significance	X	21648887	21648887	Human	1	name
126745981	CV1035446	single nucleotide variant	NM_014927.5(CNKSR2):c.2723C>T (p.Ser908Leu)	Inborn genetic diseases [RCV004978355]\|Intellectual disability, X-linked, syndromic, Houge type [RCV002226779]\|not provided [RCV001337268]	uncertain significance	X	21648861	21648861	Human	2	name
126910656	CV1053650	single nucleotide variant	NM_014927.5(CNKSR2):c.1235T>A (p.Leu412Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV001375874]	pathogenic	X	21531999	21531999	Human	1	name
127250204	CV1065269	single nucleotide variant	NM_014927.5(CNKSR2):c.1735A>T (p.Lys579Ter)	not provided [RCV001385256]	pathogenic	X	21591099	21591099	Human		name
127241835	CV1065270	single nucleotide variant	NM_014927.5(CNKSR2):c.2349T>G (p.Tyr783Ter)	not provided [RCV001383716]	pathogenic	X	21609274	21609274	Human		name
150408898	CV1182292	single nucleotide variant	NM_014927.5(CNKSR2):c.1003A>G (p.Ser335Gly)	not specified [RCV001553671]	uncertain significance	X	21526912	21526912	Human		name
150449029	CV1202388	single nucleotide variant	NM_014927.5(CNKSR2):c.2638G>A (p.Glu880Lys)	not provided [RCV001584985]	likely benign	X	21609563	21609563	Human		name
150453226	CV1203758	single nucleotide variant	NM_014927.5(CNKSR2):c.1219G>A (p.Glu407Lys)	Intellectual disability, X-linked, syndromic, Houge type [RCV001591714]	uncertain significance	X	21531983	21531983	Human	1	name
150458245	CV1226192	single nucleotide variant	NM_014927.5(CNKSR2):c.2041C>T (p.Gln681Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV001638189]	pathogenic	X	21601346	21601346	Human	1	name
150529643	CV1289200	single nucleotide variant	NM_014927.5(CNKSR2):c.2336C>G (p.Ser779Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV001728040]	pathogenic	X	21609261	21609261	Human	1	name
150531223	CV1299342	single nucleotide variant	NM_014927.5(CNKSR2):c.2507A>G (p.Asn836Ser)	not provided [RCV001757035]	uncertain significance	X	21609432	21609432	Human		name
150550085	CV1300045	single nucleotide variant	NM_014927.5(CNKSR2):c.2345A>G (p.His782Arg)	not provided [RCV001765515]	uncertain significance	X	21609270	21609270	Human		name
150527878	CV1300881	single nucleotide variant	NM_014927.5(CNKSR2):c.1084A>G (p.Ile362Val)	not provided [RCV001754741]	uncertain significance	X	21526993	21526993	Human		name
150556697	CV1305621	single nucleotide variant	NM_014927.5(CNKSR2):c.2758A>C (p.Ser920Arg)	Intellectual disability, X-linked, syndromic, Houge type [RCV004728800]\|not provided [RCV001774610]	likely benign\|uncertain significance	X	21648896	21648896	Human	1	name
150555025	CV1310024	single nucleotide variant	NM_014927.5(CNKSR2):c.2884T>G (p.Leu962Val)	not provided [RCV003238030]	uncertain significance	X	21649022	21649022	Human		name
150536924	CV1314369	single nucleotide variant	NM_014927.5(CNKSR2):c.1564C>T (p.Gln522Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV001780796]	likely pathogenic	X	21563408	21563408	Human	1	name
151234354	CV1320240	single nucleotide variant	NM_014927.5(CNKSR2):c.1115G>C (p.Cys372Ser)	not provided [RCV001799863]	uncertain significance	X	21531879	21531879	Human		name
152979493	CV1675595	single nucleotide variant	NM_014927.5(CNKSR2):c.2666C>A (p.Ala889Glu)	Intellectual disability, X-linked, syndromic, Houge type [RCV002244185]	uncertain significance	X	21609591	21609591	Human	1	name
152999971	CV1682797	single nucleotide variant	NM_014927.5(CNKSR2):c.2680A>G (p.Ile894Val)	See cases [RCV002252807]	uncertain significance	X	21609605	21609605	Human		name
155268681	CV1705508	single nucleotide variant	NM_014927.5(CNKSR2):c.1138G>A (p.Val380Met)	not provided [RCV002286114]	uncertain significance	X	21531902	21531902	Human		name
155268792	CV1705619	single nucleotide variant	NM_014927.5(CNKSR2):c.1592A>C (p.Glu531Ala)	not provided [RCV002286226]	uncertain significance	X	21563436	21563436	Human		name
155713985	CV1780275	single nucleotide variant	NM_014927.5(CNKSR2):c.2705A>T (p.Glu902Val)	not provided [RCV002305879]	uncertain significance	X	21648843	21648843	Human		name
155715454	CV1780395	single nucleotide variant	NM_014927.5(CNKSR2):c.2740A>G (p.Arg914Gly)	not provided [RCV002305999]	uncertain significance	X	21648878	21648878	Human		name
155798294	CV1859679	single nucleotide variant	NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV002465470]\|not provided [RCV004725291]	pathogenic\|likely pathogenic	X	21531962	21531962	Human	1	name
156052198	CV1867743	single nucleotide variant	NM_014927.5(CNKSR2):c.1359A>T (p.Glu453Asp)	not provided [RCV002510216]	uncertain significance	X	21561526	21561526	Human		name
10050928	CV192672	single nucleotide variant	NM_014927.5(CNKSR2):c.2609A>G (p.Asp870Gly)	not provided [RCV000176095]	uncertain significance	X	21609534	21609534	Human		name
155946684	CV2238163	single nucleotide variant	NM_014927.5(CNKSR2):c.1001C>T (p.Ser334Phe)	Inborn genetic diseases [RCV002752577]	uncertain significance	X	21526910	21526910	Human	1	name
156009756	CV2290934	single nucleotide variant	NM_014927.5(CNKSR2):c.2620C>T (p.Pro874Ser)	Inborn genetic diseases [RCV002883994]	uncertain significance	X	21609545	21609545	Human	1	name
156291685	CV2321141	single nucleotide variant	NM_014927.5(CNKSR2):c.1505A>G (p.Lys502Arg)	Inborn genetic diseases [RCV002935658]	uncertain significance	X	21563349	21563349	Human	1	name
243055584	CV2407508	single nucleotide variant	NM_014927.5(CNKSR2):c.1268G>A (p.Ser423Asn)	Intellectual disability, X-linked, syndromic, Houge type [RCV003145058]	uncertain significance	X	21532032	21532032	Human	1	name
243055586	CV2407509	single nucleotide variant	NM_014927.5(CNKSR2):c.1679A>G (p.Lys560Arg)	Intellectual disability, X-linked, syndromic, Houge type [RCV003145059]	uncertain significance	X	21591043	21591043	Human	1	name
243055588	CV2407510	single nucleotide variant	NM_014927.5(CNKSR2):c.2228A>C (p.Glu743Ala)	Intellectual disability, X-linked, syndromic, Houge type [RCV003145060]	uncertain significance	X	21609153	21609153	Human	1	name
329380070	CV2444175	single nucleotide variant	NM_014927.5(CNKSR2):c.2042A>G (p.Gln681Arg)	Inborn genetic diseases [RCV003175316]	likely benign	X	21601347	21601347	Human	1	name
329394673	CV2461515	single nucleotide variant	NM_014927.5(CNKSR2):c.1292C>T (p.Thr431Ile)	Inborn genetic diseases [RCV003193841]	uncertain significance	X	21532056	21532056	Human	1	name
329396331	CV2462517	single nucleotide variant	NM_014927.5(CNKSR2):c.1123C>T (p.Leu375Phe)	Inborn genetic diseases [RCV003194914]	uncertain significance	X	21531887	21531887	Human	1	name
329846436	CV2534046	single nucleotide variant	NM_014927.5(CNKSR2):c.1093G>A (p.Asp365Asn)	not provided [RCV003228252]	uncertain significance	X	21531857	21531857	Human		name
329847536	CV2543802	single nucleotide variant	NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV003228738]\|not provided [RCV005235701]	pathogenic\|likely pathogenic	X	21609110	21609110	Human	1	name
329953888	CV2669227	single nucleotide variant	NM_014927.5(CNKSR2):c.1685G>A (p.Arg562Gln)	not provided [RCV003231731]	uncertain significance	X	21591049	21591049	Human		name
401769651	CV2731505	single nucleotide variant	NM_014927.5(CNKSR2):c.1805C>A (p.Ser602Tyr)	Inborn genetic diseases [RCV003283792]	uncertain significance	X	21591169	21591169	Human	1	name
401740364	CV2738709	single nucleotide variant	NM_014927.5(CNKSR2):c.2791A>G (p.Thr931Ala)	not provided [RCV003318103]	uncertain significance	X	21648929	21648929	Human		name
401797734	CV2739066	single nucleotide variant	NM_014927.5(CNKSR2):c.1090A>G (p.Arg364Gly)	Intellectual disability, X-linked, syndromic, Houge type [RCV003318474]	likely pathogenic	X	21526999	21526999	Human	1	name
401829701	CV2747524	single nucleotide variant	NM_014927.5(CNKSR2):c.2462A>G (p.Tyr821Cys)	not provided [RCV003328990]	uncertain significance	X	21609387	21609387	Human		name
401931209	CV2821338	single nucleotide variant	NM_014927.5(CNKSR2):c.2611G>C (p.Val871Leu)	not provided [RCV003441137]	likely benign	X	21609536	21609536	Human		name
401914189	CV2830591	single nucleotide variant	NM_014927.5(CNKSR2):c.2387A>T (p.Asp796Val)	not provided [RCV003442329]	uncertain significance	X	21609312	21609312	Human		name
401914311	CV2830668	single nucleotide variant	NM_014927.5(CNKSR2):c.2782C>T (p.Arg928Cys)	not provided [RCV003442406]	uncertain significance	X	21648920	21648920	Human		name
405267488	CV3186841	single nucleotide variant	NM_014927.5(CNKSR2):c.1537C>T (p.Pro513Ser)	not provided [RCV003886924]	uncertain significance	X	21563381	21563381	Human		name
405261522	CV3209703	single nucleotide variant	NM_014927.5(CNKSR2):c.2683G>A (p.Gly895Arg)	CNKSR2-related disorder [RCV003944468]	uncertain significance	X	21609608	21609608	Human		name , trait , alternate_id
405664052	CV3305346	single nucleotide variant	NM_014927.5(CNKSR2):c.1289G>A (p.Ser430Asn)	Inborn genetic diseases [RCV004439868]	uncertain significance	X	21532053	21532053	Human	1	name
405664076	CV3305350	single nucleotide variant	NM_014927.5(CNKSR2):c.2393C>T (p.Ala798Val)	Inborn genetic diseases [RCV004439872]	uncertain significance	X	21609318	21609318	Human	1	name
405664082	CV3305351	single nucleotide variant	NM_014927.5(CNKSR2):c.2591C>T (p.Ala864Val)	Inborn genetic diseases [RCV004439873]	uncertain significance	X	21609516	21609516	Human	1	name
405854759	CV3394874	single nucleotide variant	NM_014927.5(CNKSR2):c.2935C>G (p.Pro979Ala)	not provided [RCV004555015]	uncertain significance	X	21652351	21652351	Human		name
407470317	CV3429580	single nucleotide variant	NM_014927.5(CNKSR2):c.2155G>A (p.Ala719Thr)	Inborn genetic diseases [RCV004615412]	likely benign	X	21609080	21609080	Human	1	name
407470324	CV3429582	single nucleotide variant	NM_014927.5(CNKSR2):c.2975T>G (p.Met992Arg)	Inborn genetic diseases [RCV004615414]	uncertain significance	X	21652391	21652391	Human	1	name
407470330	CV3429584	single nucleotide variant	NM_014927.5(CNKSR2):c.1274A>G (p.Gln425Arg)	Inborn genetic diseases [RCV004615416]	uncertain significance	X	21532038	21532038	Human	1	name
407470333	CV3429585	single nucleotide variant	NM_014927.5(CNKSR2):c.2275C>G (p.Arg759Gly)	Inborn genetic diseases [RCV004615417]	uncertain significance	X	21609200	21609200	Human	1	name
407495924	CV3496581	single nucleotide variant	NM_014927.5(CNKSR2):c.2198C>T (p.Thr733Met)	not provided [RCV004696782]	uncertain significance	X	21609123	21609123	Human		name
408382096	CV3502106	single nucleotide variant	NM_014927.5(CNKSR2):c.2777A>T (p.Glu926Val)	not provided [RCV004729634]	uncertain significance	X	21648915	21648915	Human		name
408369960	CV3502921	single nucleotide variant	NM_014927.5(CNKSR2):c.1319T>C (p.Ile440Thr)	not provided [RCV004724042]	uncertain significance	X	21561486	21561486	Human		name
408383465	CV3518294	single nucleotide variant	NM_014927.5(CNKSR2):c.1979G>A (p.Trp660Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV004759617]	pathogenic	X	21601284	21601284	Human	1	name
408387621	CV3518913	single nucleotide variant	NM_014927.5(CNKSR2):c.1006A>G (p.Thr336Ala)	not provided [RCV004761232]	uncertain significance	X	21526915	21526915	Human		name
408389722	CV3519009	single nucleotide variant	NM_014927.5(CNKSR2):c.2840T>C (p.Val947Ala)	not provided [RCV004762318]	uncertain significance	X	21648978	21648978	Human		name
408391434	CV3521075	single nucleotide variant	NM_014927.5(CNKSR2):c.1243T>C (p.Tyr415His)	not provided [RCV004762897]	uncertain significance	X	21532007	21532007	Human		name
408380856	CV3523679	single nucleotide variant	NM_014927.5(CNKSR2):c.2531G>A (p.Ser844Asn)	not provided [RCV004766077]	uncertain significance	X	21609456	21609456	Human		name
408383528	CV3526806	single nucleotide variant	NM_014927.5(CNKSR2):c.2980C>T (p.Leu994Phe)	not provided [RCV004772119]	uncertain significance	X	21652396	21652396	Human		name
408390560	CV3527614	single nucleotide variant	NM_014927.5(CNKSR2):c.2077G>A (p.Asp693Asn)	not provided [RCV004774881]	uncertain significance	X	21606811	21606811	Human		name
408392750	CV3528269	single nucleotide variant	NM_014927.5(CNKSR2):c.2809C>G (p.Leu937Val)	not provided [RCV004776037]	uncertain significance	X	21648947	21648947	Human		name
596922100	CV3529668	single nucleotide variant	NM_014927.5(CNKSR2):c.1684C>T (p.Arg562Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV004776525]	pathogenic	X	21591048	21591048	Human	1	name
596924903	CV3536809	single nucleotide variant	NM_014927.5(CNKSR2):c.1519A>T (p.Thr507Ser)	Intellectual disability, X-linked, syndromic, Houge type [RCV004785803]	uncertain significance	X	21563363	21563363	Human	1	name
597649805	CV3551798	single nucleotide variant	NM_014927.5(CNKSR2):c.1525T>C (p.Tyr509His)	not provided [RCV004820511]	uncertain significance	X	21563369	21563369	Human		name
597631390	CV3552689	single nucleotide variant	NM_014927.5(CNKSR2):c.2074G>A (p.Ala692Thr)	not provided [RCV004823389]	uncertain significance	X	21606808	21606808	Human		name
597647620	CV3653880	single nucleotide variant	NM_014927.5(CNKSR2):c.2977T>A (p.Tyr993Asn)	Inborn genetic diseases [RCV004974044]	uncertain significance	X	21652393	21652393	Human	1	name
597647626	CV3653881	single nucleotide variant	NM_014927.5(CNKSR2):c.1580C>T (p.Thr527Ile)	Inborn genetic diseases [RCV004974045]	uncertain significance	X	21563424	21563424	Human	1	name
597647630	CV3653882	single nucleotide variant	NM_014927.5(CNKSR2):c.1289G>T (p.Ser430Ile)	Inborn genetic diseases [RCV004974046]	uncertain significance	X	21532053	21532053	Human	1	name
597647635	CV3653883	single nucleotide variant	NM_014927.5(CNKSR2):c.2707G>A (p.Glu903Lys)	Inborn genetic diseases [RCV004974047]	likely benign	X	21648845	21648845	Human	1	name
597655934	CV3731527	single nucleotide variant	NM_014927.5(CNKSR2):c.2587A>G (p.Ser863Gly)	not provided [RCV005001708]	uncertain significance	X	21609512	21609512	Human		name
597715417	CV3733188	single nucleotide variant	NM_014927.5(CNKSR2):c.2711A>G (p.Lys904Arg)	not provided [RCV005052377]	uncertain significance	X	21648849	21648849	Human		name
597833209	CV3735515	single nucleotide variant	NM_014927.5(CNKSR2):c.1458A>T (p.Arg486Ser)	not provided [RCV005063377]	uncertain significance	X	21563302	21563302	Human		name
597843623	CV3735953	single nucleotide variant	NM_014927.5(CNKSR2):c.1057A>T (p.Ile353Phe)	not provided [RCV005065302]	uncertain significance	X	21526966	21526966	Human		name
597831749	CV3863914	single nucleotide variant	NM_014927.5(CNKSR2):c.2388C>G (p.Asp796Glu)	Intellectual disability, X-linked, syndromic, Houge type [RCV005208328]	uncertain significance	X	21609313	21609313	Human	1	name
597861517	CV3880903	single nucleotide variant	NM_014927.5(CNKSR2):c.1312C>T (p.Arg438Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV005229731]	likely pathogenic	X	21561479	21561479	Human	1	name
598257463	CV3941224	single nucleotide variant	NM_014927.5(CNKSR2):c.2878A>C (p.Ser960Arg)	Inborn genetic diseases [RCV005324422]	uncertain significance	X	21649016	21649016	Human	1	name
598257470	CV3941226	single nucleotide variant	NM_014927.5(CNKSR2):c.1937G>C (p.Ser646Thr)	Inborn genetic diseases [RCV005324424]	uncertain significance	X	21595356	21595356	Human	1	name
598257478	CV3941228	single nucleotide variant	NM_014927.5(CNKSR2):c.1409G>A (p.Arg470Gln)	Inborn genetic diseases [RCV005324426]	uncertain significance	X	21563253	21563253	Human	1	name
616935231	CV4009395	single nucleotide variant	NM_014927.5(CNKSR2):c.1589C>T (p.Pro530Leu)	not provided [RCV005402567]	uncertain significance	X	21563433	21563433	Human		name
616935356	CV4009483	single nucleotide variant	NM_014927.5(CNKSR2):c.2479G>A (p.Ala827Thr)	not provided [RCV005402655]	uncertain significance	X	21609404	21609404	Human		name
616937832	CV4013192	single nucleotide variant	NM_014927.5(CNKSR2):c.2582C>A (p.Pro861Gln)	not provided [RCV005410659]	uncertain significance	X	21609507	21609507	Human		name
616937983	CV4014762	single nucleotide variant	NM_014927.5(CNKSR2):c.2704G>A (p.Glu902Lys)	not provided [RCV005411778]	uncertain significance	X	21648842	21648842	Human		name
616939300	CV4015631	single nucleotide variant	NM_014927.5(CNKSR2):c.2989T>A (p.Phe997Ile)	not provided [RCV005413143]	uncertain significance	X	21652405	21652405	Human		name
617153732	CV4016809	single nucleotide variant	NM_014927.5(CNKSR2):c.1475C>T (p.Thr492Ile)	not provided [RCV005415906]	uncertain significance	X	21563319	21563319	Human		name
617151184	CV4017782	single nucleotide variant	NM_014927.5(CNKSR2):c.1030G>A (p.Asp344Asn)	Intellectual disability, X-linked, syndromic, Houge type [RCV005417567]	uncertain significance	X	21526939	21526939	Human	1	name
12894242	CV411249	single nucleotide variant	NM_014927.5(CNKSR2):c.1282C>T (p.Arg428Ter)	not provided [RCV000482053]	pathogenic	X	21532046	21532046	Human		name
12901827	CV411250	single nucleotide variant	NM_014927.5(CNKSR2):c.2095A>C (p.Lys699Gln)	Inborn genetic diseases [RCV004975563]\|not provided [RCV000485647]	uncertain significance	X	21606829	21606829	Human	1	name
12901108	CV411252	single nucleotide variant	NM_014927.5(CNKSR2):c.2152T>A (p.Cys718Ser)	Inborn genetic diseases [RCV004023146]\|not provided [RCV000483923]	uncertain significance	X	21609077	21609077	Human	1	name
12901519	CV411253	single nucleotide variant	NM_014927.5(CNKSR2):c.2224C>T (p.His742Tyr)	not provided [RCV000484888]	uncertain significance	X	21609149	21609149	Human		name
12902543	CV411254	single nucleotide variant	NM_014927.5(CNKSR2):c.2554G>A (p.Gly852Arg)	not provided [RCV000487358]	uncertain significance	X	21609479	21609479	Human		name
12899112	CV411255	single nucleotide variant	NM_014927.5(CNKSR2):c.2945C>G (p.Thr982Arg)	not provided [RCV000479453]	uncertain significance	X	21652361	21652361	Human		name
13471007	CV440249	single nucleotide variant	NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV000516164]\|not provided [RCV001572332]	pathogenic\|likely pathogenic	X	21606868	21606868	Human	1	name
14691285	CV621998	single nucleotide variant	NM_014927.5(CNKSR2):c.2300C>T (p.Ser767Phe)	Neurodevelopmental disorder [RCV000782047]	likely pathogenic\|uncertain significance	X	21609225	21609225	Human	1	name
14695913	CV622491	single nucleotide variant	NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV000785133]	pathogenic	X	21591098	21591098	Human	1	name
15203259	CV706191	single nucleotide variant	NM_014927.5(CNKSR2):c.2983G>A (p.Asp995Asn)	not provided [RCV000958313]	benign	X	21652399	21652399	Human		name
15168911	CV717755	single nucleotide variant	NM_014927.5(CNKSR2):c.2398A>G (p.Ile800Val)	Inborn genetic diseases [RCV004029960]\|not provided [RCV000971709]	benign\|likely benign\|uncertain significance	X	21609323	21609323	Human	1	name
21070417	CV798254	single nucleotide variant	NM_014927.5(CNKSR2):c.2495T>C (p.Met832Thr)	not provided [RCV000999348]	uncertain significance	X	21609420	21609420	Human		name
28893062	CV860830	single nucleotide variant	NM_014927.5(CNKSR2):c.2644G>A (p.Glu882Lys)	not provided [RCV001092569]	uncertain significance	X	21609569	21609569	Human		name
38460287	CV920005	single nucleotide variant	NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln)	Intellectual disability, X-linked, syndromic, Houge type [RCV001196461]	uncertain significance	X	21561500	21561500	Human	1	name
38598523	CV964593	single nucleotide variant	NM_014927.5(CNKSR2):c.1711G>A (p.Gly571Ser)	Intellectual disability, X-linked, syndromic, Houge type [RCV001253723]	uncertain significance	X	21591075	21591075	Human	1	name
42723711	CV984624	single nucleotide variant	NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter)	Intellectual disability, X-linked, syndromic, Houge type [RCV001291713]	likely pathogenic	X	21590578	21590578	Human	1	name
153348638	CV1692682	single nucleotide variant	NM_014927.5(CNKSR2):c.3014C>A (p.Thr1005Asn)	not provided [RCV002274537]	uncertain significance	X	21652430	21652430	Human		name
155944064	CV2294967	single nucleotide variant	NM_014927.5(CNKSR2):c.3089T>C (p.Ile1030Thr)	Inborn genetic diseases [RCV002880002]	uncertain significance	X	21652505	21652505	Human	1	name
155999515	CV2396430	single nucleotide variant	NM_014927.5(CNKSR2):c.2998A>G (p.Ile1000Val)	Inborn genetic diseases [RCV002779265]	uncertain significance	X	21652414	21652414	Human	1	name
243055582	CV2407507	single nucleotide variant	NM_014927.5(CNKSR2):c.3010A>G (p.Thr1004Ala)	CNKSR2-related disorder [RCV003946451]\|Inborn genetic diseases [RCV004614408]\|Intellectual disability, X-linked, syndromic, Houge type [RCV003145057]	uncertain significance	X	21652426	21652426	Human	2	name , trait , alternate_id
405654954	CV3228414	single nucleotide variant	NM_014927.5(CNKSR2):c.3088A>G (p.Ile1030Val)	not specified [RCV003995149]	uncertain significance	X	21652504	21652504	Human		name
407470320	CV3429581	single nucleotide variant	NM_014927.5(CNKSR2):c.3070G>C (p.Ala1024Pro)	Inborn genetic diseases [RCV004615413]	uncertain significance	X	21652486	21652486	Human	1	name
598129324	CV3888619	single nucleotide variant	NM_014927.5(CNKSR2):c.3073C>T (p.His1025Tyr)	not provided [RCV005244793]	uncertain significance	X	21652489	21652489	Human		name
616933912	CV4011885	single nucleotide variant	NM_014927.5(CNKSR2):c.3085T>C (p.Tyr1029His)	not specified [RCV005408434]	uncertain significance	X	21652501	21652501	Human		name
21070419	CV798255	single nucleotide variant	NM_014927.5(CNKSR2):c.3065C>T (p.Ser1022Phe)	Inborn genetic diseases [RCV002549123]\|Intellectual disability [RCV001260687]\|not provided [RCV000999349]	likely benign\|uncertain significance	X	21652481	21652481	Human	3	name
28893071	CV860831	single nucleotide variant	NM_014927.5(CNKSR2):c.3088A>C (p.Ile1030Leu)	not provided [RCV001092570]	uncertain significance	X	21652504	21652504	Human		name
153302921	CV1689699	deletion	NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs)	Intellectual disability, X-linked, syndromic, Houge type [RCV002267688]	pathogenic\|likely pathogenic	X	21470794	21470797	Human	1	name
408393547	CV3529484	deletion	NM_014927.5(CNKSR2):c.573_576del (p.Ser192fs)	Intellectual disability, X-linked, syndromic, Houge type [RCV004776326]	pathogenic	X	21490467	21490470	Human	1	name
156381484	CV2215542	microsatellite	NM_014927.5(CNKSR2):c.2637GGA[6] (p.Glu886del)	CNKSR2-related disorder [RCV003973734]\|Inborn genetic diseases [RCV002678785]	benign\|likely benign	X	21609560	21609562	Human		name , trait , alternate_id
15104471	CV758427	microsatellite	NM_014927.5(CNKSR2):c.2637GGA[8] (p.Glu886dup)	not provided [RCV000915358]	benign\|likely benign	X	21609559	21609560	Human		name
155796596	CV1862938	microsatellite	NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)	Intellectual disability, X-linked, syndromic, Houge type [RCV002470212]	pathogenic	X	21601325	21601328	Human		name
11633046	CV264832	deletion	NM_014927.5(CNKSR2):c.2340_2344del (p.His782fs)	not provided [RCV000309030]	pathogenic	X	21609265	21609269	Human		name
405664070	CV3305349	deletion	NM_014927.5(CNKSR2):c.2250_2256del (p.Gly751fs)	Inborn genetic diseases [RCV004439871]	pathogenic	X	21609174	21609180	Human	1	name
25318063	CV806187	microsatellite	NM_014927.5(CNKSR2):c.2026_2027del (p.Arg676fs)	not provided [RCV001008396]	pathogenic\|likely pathogenic	X	21601325	21601326	Human		name
38598495	CV964594	deletion	NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs)	Intellectual disability, X-linked, syndromic, Houge type [RCV001253675]	pathogenic\|uncertain significance	X	21601292	21601293	Human	1	name
150534633	CV1311503	deletion	NM_014927.5(CNKSR2):c.1844_1846del (p.Glu615del)	Intellectual disability, X-linked, syndromic, Houge type [RCV001779349]	uncertain significance	X	21594985	21594987	Human	1	name
42723788	CV984715	microsatellite	NM_014927.5(CNKSR2):c.2637GGA[5] (p.Glu885_Glu886del)	Intellectual disability, X-linked, syndromic, Houge type [RCV001291809]	uncertain significance	X	21609560	21609565	Human		name
12899203	CV411256	deletion	NM_014927.5(CNKSR2):c.3017del (p.Thr1005_Ser1006insTer)	not provided [RCV000479683]	uncertain significance	X	21652433	21652433	Human		name
15156307	CV745406	insertion	NM_014927.5(CNKSR2):c.2693-10_2693-9insTTTTTTTTTTTTTTTTTT	not provided [RCV000902306]	likely benign	X	21648821	21648822	Human		name
401931208	CV2821337	indel	NM_014927.5(CNKSR2):c.2392_2396delinsCCAGAGCA (p.Ala798_Ala799delinsProGluHis)	not provided [RCV003441136]	uncertain significance	X	21609317	21609321	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message