Cplx1 Variant Search Result - Rat Genome Database

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78 records found for search term Cplx1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150410027	CV1175281	single nucleotide variant	NM_006651.4(CPLX1):c.*3G>C	Developmental and epileptic encephalopathy, 63 [RCV001544417]\|not provided [RCV001673179]	benign	4	786498	786498	Human	1	name
405266979	CV3213040	single nucleotide variant	NM_006651.4(CPLX1):c.*1C>A	CPLX1-related disorder [RCV003947247]	likely benign	4	786500	786500	Human		name , trait , alternate_id
127303188	CV1154840	single nucleotide variant	NM_006651.4(CPLX1):c.32-5A>G	Developmental and epileptic encephalopathy, 63 [RCV001544048]\|not provided [RCV001515393]	benign	4	792613	792613	Human	1	name
156325255	CV2068502	single nucleotide variant	NM_006651.4(CPLX1):c.32-9C>T	not provided [RCV002834976]	likely benign	4	792617	792617	Human		name
597901869	CV3741403	single nucleotide variant	NM_006651.4(CPLX1):c.32-8T>C	not provided [RCV005072374]	likely benign	4	792616	792616	Human		name
15163533	CV730310	single nucleotide variant	NM_006651.4(CPLX1):c.31+9C>T	not provided [RCV000881991]	likely benign	4	824483	824483	Human		name
151875249	CV1397029	single nucleotide variant	NM_006651.4(CPLX1):c.208-5C>A	not provided [RCV001940314]	uncertain significance	4	786703	786703	Human		name
156412703	CV1904555	single nucleotide variant	NM_006651.4(CPLX1):c.208-8C>A	CPLX1-related disorder [RCV003918904]\|not provided [RCV002587917]	likely benign	4	786706	786706	Human	1	name , trait , alternate_id
156304172	CV1931183	single nucleotide variant	NM_006651.4(CPLX1):c.208-3C>T	not provided [RCV002647798]	uncertain significance	4	786701	786701	Human		name
597938763	CV3760057	single nucleotide variant	NM_006651.4(CPLX1):c.31+18G>C	not provided [RCV005076981]	likely benign	4	824474	824474	Human		name
15147477	CV759344	single nucleotide variant	NM_006651.4(CPLX1):c.207+9C>T	not provided [RCV000922914]	likely benign	4	792424	792424	Human		name
150409442	CV1175282	single nucleotide variant	NM_006651.4(CPLX1):c.32-112A>G	Primary ciliary dyskinesia 18 [RCV001544049]\|not provided [RCV004717824]	benign	4	792720	792720	Human	1	name
152129184	CV1584263	single nucleotide variant	NM_006651.4(CPLX1):c.207+17C>T	not provided [RCV002082631]	likely benign	4	792416	792416	Human		name
152100824	CV1648921	single nucleotide variant	NM_006651.4(CPLX1):c.207+18C>G	not provided [RCV002213979]	likely benign	4	792415	792415	Human		name
156207913	CV1913317	single nucleotide variant	NM_006651.4(CPLX1):c.207+10G>A	not provided [RCV002595955]	likely benign	4	792423	792423	Human		name
156165888	CV2019715	single nucleotide variant	NM_006651.4(CPLX1):c.207+12G>A	not provided [RCV002710336]	likely benign	4	792421	792421	Human		name
402477939	CV3173968	single nucleotide variant	NM_006651.4(CPLX1):c.207+16G>T	not provided [RCV003875506]	likely benign	4	792417	792417	Human		name
150337261	CV1165727	single nucleotide variant	NM_006651.4(CPLX1):c.45C>T (p.Asp15=)	not provided [RCV001532496]	likely benign	4	792595	792595	Human		name
156380505	CV1968611	duplication	NM_006651.4(CPLX1):c.208-22_208-11dup	not provided [RCV002603931]	likely benign	4	786708	786709	Human		name
155941265	CV2006232	single nucleotide variant	NM_006651.4(CPLX1):c.72G>A (p.Glu24=)	not provided [RCV002685477]	likely benign	4	792568	792568	Human		name
405125682	CV2939344	single nucleotide variant	NM_006651.4(CPLX1):c.51G>A (p.Gly17=)	not provided [RCV003671885]	likely benign	4	792589	792589	Human		name
405239485	CV2993325	single nucleotide variant	NM_006651.4(CPLX1):c.75G>A (p.Glu25=)	not provided [RCV003718877]	likely benign	4	792565	792565	Human		name
405205287	CV3116969	single nucleotide variant	NM_006651.4(CPLX1):c.39C>A (p.Thr13=)	not provided [RCV003822453]	likely benign	4	792601	792601	Human		name
151352994	CV1326526	single nucleotide variant	NM_006651.4(CPLX1):c.198C>A (p.Ile66=)	CPLX1-related disorder [RCV003956387]\|not provided [RCV001815929]	benign\|likely benign	4	792442	792442	Human	1	name , trait , alternate_id
152159063	CV1595305	single nucleotide variant	NM_006651.4(CPLX1):c.183C>T (p.Ala61=)	not provided [RCV002103446]	likely benign	4	792457	792457	Human		name
152122659	CV1640979	single nucleotide variant	NM_006651.4(CPLX1):c.195C>A (p.Gly65=)	CPLX1-related disorder [RCV003923590]\|not provided [RCV002098374]	likely benign	4	792445	792445	Human	1	name , trait , alternate_id
156296486	CV1923244	single nucleotide variant	NM_006651.4(CPLX1):c.264C>A (p.Ala88=)	not provided [RCV002647428]	likely benign	4	786642	786642	Human		name
156409397	CV1961781	single nucleotide variant	NM_006651.4(CPLX1):c.219G>A (p.Lys73=)	not provided [RCV002586804]	likely benign	4	786687	786687	Human		name
156410025	CV1962073	single nucleotide variant	NM_006651.4(CPLX1):c.132G>A (p.Ala44=)	not provided [RCV002587022]	likely benign	4	792508	792508	Human		name
156075810	CV2141726	single nucleotide variant	NM_006651.4(CPLX1):c.177C>T (p.Arg59=)	not provided [RCV002979086]	likely benign\|uncertain significance	4	792463	792463	Human		name
405258690	CV3203887	single nucleotide variant	NM_006651.4(CPLX1):c.177C>A (p.Arg59=)	CPLX1-related disorder [RCV003942049]	likely benign	4	792463	792463	Human		name , trait , alternate_id
598227071	CV3894458	single nucleotide variant	NM_006651.4(CPLX1):c.294G>A (p.Lys98=)	not provided [RCV005257701]	likely benign	4	786612	786612	Human		name
156294512	CV1892277	single nucleotide variant	NM_006651.4(CPLX1):c.97A>G (p.Lys33Glu)	not provided [RCV003061601]	uncertain significance	4	792543	792543	Human		name
156416532	CV1901412	single nucleotide variant	NM_006651.4(CPLX1):c.86A>C (p.Asp29Ala)	not provided [RCV002610224]	uncertain significance	4	792554	792554	Human		name
156358442	CV1904097	single nucleotide variant	NM_006651.4(CPLX1):c.375C>T (p.Pro125=)	not provided [RCV002581557]	likely benign	4	786531	786531	Human		name
156220006	CV2015453	single nucleotide variant	NM_006651.4(CPLX1):c.79G>A (p.Asp27Asn)	not provided [RCV002700968]	uncertain significance	4	792561	792561	Human		name
156360350	CV2016600	single nucleotide variant	NM_006651.4(CPLX1):c.405G>A (p.Ter135=)	not provided [RCV002720818]	likely benign\|uncertain significance	4	786501	786501	Human		name
156013979	CV2051615	single nucleotide variant	NM_006651.4(CPLX1):c.64G>T (p.Gly22Cys)	not provided [RCV002820275]	uncertain significance	4	792576	792576	Human		name
597664284	CV3651087	single nucleotide variant	NM_006651.4(CPLX1):c.78G>C (p.Lys26Asn)	Inborn genetic diseases [RCV004979135]	uncertain significance	4	792562	792562	Human	1	name
597871099	CV3849267	single nucleotide variant	NM_006651.4(CPLX1):c.309G>C (p.Pro103=)	not provided [RCV005197448]	likely benign	4	786597	786597	Human		name
15178512	CV709476	single nucleotide variant	NM_006651.4(CPLX1):c.349C>T (p.Leu117=)	CPLX1-related disorder [RCV003943231]\|not provided [RCV000973683]	likely benign	4	786557	786557	Human	1	name , trait , alternate_id
15130124	CV749073	single nucleotide variant	NM_006651.4(CPLX1):c.396C>G (p.Leu132=)	not provided [RCV000919950]	likely benign	4	786510	786510	Human		name
15102635	CV749074	single nucleotide variant	NM_006651.4(CPLX1):c.333G>A (p.Glu111=)	not provided [RCV000915000]	likely benign	4	786573	786573	Human		name
151769510	CV1411376	single nucleotide variant	NM_006651.4(CPLX1):c.218A>C (p.Lys73Thr)	not provided [RCV002045105]	uncertain significance	4	786688	786688	Human		name
156415396	CV1991015	single nucleotide variant	NM_006651.4(CPLX1):c.251C>T (p.Ala84Val)	not provided [RCV002609647]	uncertain significance	4	786655	786655	Human		name
156089465	CV2016259	single nucleotide variant	NM_006651.4(CPLX1):c.170C>T (p.Ala57Val)	not provided [RCV002706260]	uncertain significance	4	792470	792470	Human		name
156090636	CV2109973	single nucleotide variant	NM_006651.4(CPLX1):c.184G>A (p.Val62Met)	not provided [RCV002952344]	uncertain significance	4	792456	792456	Human		name
155938111	CV2110475	single nucleotide variant	NM_006651.4(CPLX1):c.210C>G (p.Tyr70Ter)	Developmental and epileptic encephalopathy, 63 [RCV003340554]\|not provided [RCV002904280]	uncertain significance	4	786696	786696	Human	1	name
155975282	CV2235845	single nucleotide variant	NM_006651.4(CPLX1):c.271G>A (p.Glu91Lys)	Inborn genetic diseases [RCV002777213]	uncertain significance	4	786635	786635	Human	1	name
156016297	CV2266322	single nucleotide variant	NM_006651.4(CPLX1):c.274G>T (p.Gly92Trp)	Inborn genetic diseases [RCV002844212]	uncertain significance	4	786632	786632	Human	1	name
156067403	CV2324085	single nucleotide variant	NM_006651.4(CPLX1):c.262G>C (p.Ala88Pro)	Inborn genetic diseases [RCV002912155]	uncertain significance	4	786644	786644	Human	1	name
405696738	CV3245567	single nucleotide variant	NM_006651.4(CPLX1):c.191A>C (p.Gln64Pro)	Inborn genetic diseases [RCV004374491]	uncertain significance	4	792449	792449	Human	1	name
405696744	CV3245568	single nucleotide variant	NM_006651.4(CPLX1):c.206A>G (p.Lys69Arg)	Inborn genetic diseases [RCV004374492]	uncertain significance	4	792434	792434	Human	1	name
405696752	CV3245569	single nucleotide variant	NM_006651.4(CPLX1):c.247C>G (p.Gln83Glu)	Inborn genetic diseases [RCV004374493]	uncertain significance	4	786659	786659	Human	1	name
405855306	CV3394068	single nucleotide variant	NM_006651.4(CPLX1):c.188G>A (p.Arg63His)	Developmental and epileptic encephalopathy, 63 [RCV004547294]	uncertain significance	4	792452	792452	Human	1	name
407425437	CV3409507	single nucleotide variant	NM_006651.4(CPLX1):c.223A>G (p.Lys75Glu)	not provided [RCV004585439]	uncertain significance	4	786683	786683	Human		name
597664288	CV3651088	single nucleotide variant	NM_006651.4(CPLX1):c.175C>T (p.Arg59Cys)	Inborn genetic diseases [RCV004979136]	uncertain significance	4	792465	792465	Human	1	name
597664294	CV3651089	single nucleotide variant	NM_006651.4(CPLX1):c.272A>T (p.Glu91Val)	Inborn genetic diseases [RCV004979137]	uncertain significance	4	786634	786634	Human	1	name
598246381	CV3945257	single nucleotide variant	NM_006651.4(CPLX1):c.281T>G (p.Leu94Trp)	Inborn genetic diseases [RCV005322310]	uncertain significance	4	786625	786625	Human	1	name
126725788	CV1016439	single nucleotide variant	NM_006651.4(CPLX1):c.400A>T (p.Lys134Ter)	Developmental and epileptic encephalopathy, 63 [RCV001331603]	pathogenic	4	786506	786506	Human		name
151890152	CV1447938	single nucleotide variant	NM_006651.4(CPLX1):c.311G>A (p.Gly104Asp)	Inborn genetic diseases [RCV004975856]\|not provided [RCV001942967]	uncertain significance	4	786595	786595	Human	1	name
155268027	CV1701529	deletion	NM_006651.4(CPLX1):c.66_75del (p.Asp23fs)	Developmental and epileptic encephalopathy, 63 [RCV002283755]	likely pathogenic	4	792565	792574	Human	1	name
156438957	CV1943813	single nucleotide variant	NM_006651.4(CPLX1):c.353A>G (p.Asp118Gly)	not provided [RCV003108907]	uncertain significance	4	786553	786553	Human		name
156271279	CV2004133	single nucleotide variant	NM_006651.4(CPLX1):c.399G>C (p.Lys133Asn)	not provided [RCV002646539]	uncertain significance	4	786507	786507	Human		name
156141785	CV2109972	single nucleotide variant	NM_006651.4(CPLX1):c.339C>G (p.Asp113Glu)	Inborn genetic diseases [RCV004614275]\|not provided [RCV002928582]	uncertain significance	4	786567	786567	Human	1	name
156357321	CV2126163	single nucleotide variant	NM_006651.4(CPLX1):c.380C>A (p.Pro127Gln)	not provided [RCV002966753]	uncertain significance	4	786526	786526	Human		name
155956763	CV2140218	single nucleotide variant	NM_006651.4(CPLX1):c.326T>C (p.Val109Ala)	Inborn genetic diseases [RCV002994938]\|not provided [RCV003011360]	uncertain significance	4	786580	786580	Human	1	name
156006351	CV2288766	single nucleotide variant	NM_006651.4(CPLX1):c.342G>C (p.Glu114Asp)	Inborn genetic diseases [RCV002865807]	uncertain significance	4	786564	786564	Human	1	name
156151745	CV2369199	single nucleotide variant	NM_006651.4(CPLX1):c.367T>C (p.Tyr123His)	Inborn genetic diseases [RCV003004595]	uncertain significance	4	786539	786539	Human	1	name
401738786	CV2708159	single nucleotide variant	NM_006651.4(CPLX1):c.340G>A (p.Glu114Lys)	Inborn genetic diseases [RCV003291963]	uncertain significance	4	786566	786566	Human	1	name
407457091	CV3419627	single nucleotide variant	NM_006651.4(CPLX1):c.336G>C (p.Glu112Asp)	Inborn genetic diseases [RCV004611021]	uncertain significance	4	786570	786570	Human	1	name
12858908	CV389122	single nucleotide variant	NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter)	Abnormal brain morphology [RCV000454222]\|Developmental and epileptic encephalopathy, 63 [RCV000627075]	pathogenic\|likely pathogenic	4	786584	786584	Human	2	name
598246389	CV3945259	single nucleotide variant	NM_006651.4(CPLX1):c.376G>A (p.Gly126Arg)	Inborn genetic diseases [RCV005322312]	uncertain significance	4	786530	786530	Human	1	name
13610759	CV514297	single nucleotide variant	NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)	Developmental and epileptic encephalopathy, 63 [RCV000627076]	pathogenic\|likely pathogenic	4	786591	786591	Human	1	name
13610760	CV514298	single nucleotide variant	NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)	4p partial monosomy syndrome [RCV005357827]\|Developmental and epileptic encephalopathy, 63 [RCV000627077]\|not provided [RCV001320840]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	786524	786524	Human	3	name
15197557	CV749075	single nucleotide variant	NM_006651.4(CPLX1):c.308C>T (p.Pro103Leu)	not provided [RCV000912006]	likely benign	4	786598	786598	Human		name
28882656	CV859354	single nucleotide variant	NM_006651.4(CPLX1):c.322G>C (p.Glu108Gln)	not provided [RCV001091294]	uncertain significance	4	786584	786584	Human		name
156355293	CV1962348	duplication	NM_006651.4(CPLX1):c.339_341dup (p.Asp113_Glu114insAsp)	not provided [RCV002581346]	uncertain significance	4	786564	786565	Human		name

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