Arpc1b Variant Search Result - Rat Genome Database

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335 records found for search term Arpc1b

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
152070692	CV1570148	single nucleotide variant	NM_005720.4(ARPC1B):c.65-9C>T	not provided [RCV002191742]	likely benign	7	99386676	99386676	Human		name
156441861	CV1941513	single nucleotide variant	NM_005720.4(ARPC1B):c.64+2T>A	not provided [RCV003112194]	pathogenic	7	99385780	99385780	Human		name
155993242	CV2145590	single nucleotide variant	NM_005720.4(ARPC1B):c.65-7C>T	not provided [RCV002996665]	likely benign	7	99386678	99386678	Human		name
597886305	CV3741809	single nucleotide variant	NM_005720.4(ARPC1B):c.64+9T>C	not provided [RCV005070528]	likely benign	7	99385787	99385787	Human		name
14394857	CV613427	single nucleotide variant	NM_005720.4(ARPC1B):c.64+1G>A	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV000766124]\|not provided [RCV003736902]	pathogenic	7	99385779	99385779	Human	1	name
38598184	CV963062	single nucleotide variant	NM_005720.4(ARPC1B):c.64+1G>C	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001251024]	pathogenic	7	99385779	99385779	Human	1	name
127264463	CV1074975	single nucleotide variant	NM_005720.4(ARPC1B):c.990-5T>G	ARPC1B-related disorder [RCV003953736]\|not provided [RCV001403291]	likely benign	7	99394024	99394024	Human	1	name , trait , alternate_id
127313628	CV1155814	single nucleotide variant	NM_005720.4(ARPC1B):c.64+20C>T	not provided [RCV001519311]	benign	7	99385798	99385798	Human		name
127314286	CV1155818	single nucleotide variant	NM_005720.4(ARPC1B):c.501-5G>T	not provided [RCV001519561]	benign\|likely benign	7	99390888	99390888	Human		name
151803181	CV1354469	single nucleotide variant	NM_005720.4(ARPC1B):c.169+4T>C	not provided [RCV001867311]	uncertain significance	7	99386793	99386793	Human		name
151746065	CV1402634	single nucleotide variant	NM_005720.4(ARPC1B):c.393-8G>A	not provided [RCV001912434]	likely benign\|uncertain significance	7	99389897	99389897	Human		name
151763767	CV1447559	single nucleotide variant	NM_005720.4(ARPC1B):c.170-3C>T	not provided [RCV001895637]	uncertain significance	7	99388036	99388036	Human		name
151775264	CV1450360	single nucleotide variant	NM_005720.4(ARPC1B):c.501-5G>A	not provided [RCV001915374]	uncertain significance	7	99390888	99390888	Human		name
151755564	CV1498911	single nucleotide variant	NM_005720.4(ARPC1B):c.990-1G>C	not provided [RCV002023816]	likely pathogenic	7	99394028	99394028	Human		name
152171624	CV1521220	single nucleotide variant	NM_005720.4(ARPC1B):c.392+7A>G	not provided [RCV002143506]	likely benign	7	99388268	99388268	Human		name
152085303	CV1533719	single nucleotide variant	NM_005720.4(ARPC1B):c.501-4G>A	not provided [RCV002093399]	likely benign	7	99390889	99390889	Human		name
152121205	CV1574423	single nucleotide variant	NM_005720.4(ARPC1B):c.170-8C>T	not provided [RCV002175603]	likely benign	7	99388031	99388031	Human		name
152038277	CV1576725	single nucleotide variant	NM_005720.4(ARPC1B):c.393-9C>T	not provided [RCV002107351]	likely benign	7	99389896	99389896	Human		name
152050231	CV1585691	single nucleotide variant	NM_005720.4(ARPC1B):c.707+7C>T	not provided [RCV002145595]	likely benign	7	99391106	99391106	Human		name
152151889	CV1664385	single nucleotide variant	NM_005720.4(ARPC1B):c.170-9C>G	not provided [RCV002158316]	likely benign	7	99388030	99388030	Human		name
155717793	CV1780674	single nucleotide variant	NM_005720.4(ARPC1B):c.708-3C>T	not provided [RCV002306275]	not provided	7	99391175	99391175	Human		name
155908171	CV1979909	single nucleotide variant	NM_005720.4(ARPC1B):c.170-5C>A	ARPC1B-related disorder [RCV003898445]\|not provided [RCV002613797]	likely benign	7	99388034	99388034	Human	1	name , trait , alternate_id
155948117	CV2029085	single nucleotide variant	NM_005720.4(ARPC1B):c.170-6C>T	not provided [RCV002730525]	likely benign	7	99388033	99388033	Human		name
156220600	CV2083922	single nucleotide variant	NM_005720.4(ARPC1B):c.989+6A>T	not provided [RCV002875853]	uncertain significance	7	99392882	99392882	Human		name
156236736	CV2090229	single nucleotide variant	NM_005720.4(ARPC1B):c.393-2A>G	not provided [RCV002894765]	likely pathogenic	7	99389903	99389903	Human		name
156140004	CV2125614	single nucleotide variant	NM_005720.4(ARPC1B):c.989+3G>A	not provided [RCV002954193]	uncertain significance	7	99392879	99392879	Human		name
156269508	CV2135222	single nucleotide variant	NM_005720.4(ARPC1B):c.989+9G>A	not provided [RCV002988770]	likely benign	7	99392885	99392885	Human		name
156187705	CV2165680	single nucleotide variant	NM_005720.4(ARPC1B):c.501-6C>T	not provided [RCV003041552]	likely benign	7	99390887	99390887	Human		name
402516298	CV2856752	single nucleotide variant	NM_005720.4(ARPC1B):c.392+8C>T	not provided [RCV003575515]	likely benign	7	99388269	99388269	Human		name
405223415	CV2891353	single nucleotide variant	NM_005720.4(ARPC1B):c.784-5C>G	not provided [RCV003554269]	likely benign	7	99392666	99392666	Human		name
405071044	CV2946546	single nucleotide variant	NM_005720.4(ARPC1B):c.500+7C>G	not provided [RCV003659378]	likely benign	7	99390019	99390019	Human		name
405180765	CV2956085	single nucleotide variant	NM_005720.4(ARPC1B):c.65-15C>T	not provided [RCV003676115]	likely benign	7	99386670	99386670	Human		name
405134247	CV2959393	single nucleotide variant	NM_005720.4(ARPC1B):c.707+8G>A	not provided [RCV003668606]	likely benign	7	99391107	99391107	Human		name
405161094	CV3062524	single nucleotide variant	NM_005720.4(ARPC1B):c.392+2T>C	not provided [RCV003727104]	pathogenic	7	99388263	99388263	Human		name
405189642	CV3149581	single nucleotide variant	NM_005720.4(ARPC1B):c.989+8C>A	not provided [RCV003843307]	likely benign	7	99392884	99392884	Human		name
405205516	CV3165541	single nucleotide variant	NM_005720.4(ARPC1B):c.989+9G>T	not provided [RCV003861207]	likely benign	7	99392885	99392885	Human		name
596932338	CV3538957	single nucleotide variant	NM_005720.4(ARPC1B):c.708-3C>A	not provided [RCV004793083]	uncertain significance	7	99391175	99391175	Human		name
597847036	CV3736686	single nucleotide variant	NM_005720.4(ARPC1B):c.170-5C>G	not provided [RCV005065845]	likely benign	7	99388034	99388034	Human		name
597839776	CV3769885	single nucleotide variant	NM_005720.4(ARPC1B):c.65-17C>T	not provided [RCV005113388]	likely benign	7	99386668	99386668	Human		name
597844722	CV3771620	single nucleotide variant	NM_005720.4(ARPC1B):c.64+11G>C	not provided [RCV005120145]	likely benign	7	99385789	99385789	Human		name
597847938	CV3776015	single nucleotide variant	NM_005720.4(ARPC1B):c.393-4C>T	not provided [RCV005123542]	likely benign	7	99389901	99389901	Human		name
597856016	CV3777775	single nucleotide variant	NM_005720.4(ARPC1B):c.989+2T>C	not provided [RCV005130499]	likely pathogenic	7	99392878	99392878	Human		name
597874641	CV3810320	single nucleotide variant	NM_005720.4(ARPC1B):c.501-8C>T	not provided [RCV005149781]	likely benign	7	99390885	99390885	Human		name
597903634	CV3834050	single nucleotide variant	NM_005720.4(ARPC1B):c.783+9T>C	not provided [RCV005178369]	likely benign	7	99391262	99391262	Human		name
38598203	CV964666	single nucleotide variant	NM_005720.4(ARPC1B):c.708-1G>A	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001253464]	likely pathogenic	7	99391177	99391177	Human	1	name
127336417	CV1118146	single nucleotide variant	NM_005720.4(ARPC1B):c.500+12C>T	not provided [RCV001474932]	likely benign	7	99390024	99390024	Human		name
127322650	CV1155820	single nucleotide variant	NM_005720.4(ARPC1B):c.1081-3C>T	ARPC1B-related disorder [RCV003948562]\|not provided [RCV001523608]	benign\|likely benign	7	99394448	99394448	Human	1	name , trait , alternate_id
151749738	CV1512041	single nucleotide variant	NM_005720.4(ARPC1B):c.1080+4A>C	not provided [RCV001986161]	uncertain significance	7	99394123	99394123	Human		name
152081275	CV1525999	single nucleotide variant	NM_005720.4(ARPC1B):c.392+15A>C	not provided [RCV002170566]	likely benign	7	99388276	99388276	Human		name
152058352	CV1532582	single nucleotide variant	NM_005720.4(ARPC1B):c.783+11G>A	not provided [RCV002208361]	likely benign	7	99391264	99391264	Human		name
152145271	CV1553753	single nucleotide variant	NM_005720.4(ARPC1B):c.169+10G>A	ARPC1B-related disorder [RCV003895965]\|not provided [RCV002138718]	benign\|likely benign	7	99386799	99386799	Human	1	name , trait , alternate_id
152081401	CV1554661	single nucleotide variant	NM_005720.4(ARPC1B):c.500+17T>C	not provided [RCV002193064]	likely benign	7	99390029	99390029	Human		name
152113971	CV1559223	single nucleotide variant	NM_005720.4(ARPC1B):c.989+15C>T	not provided [RCV002174685]	likely benign	7	99392891	99392891	Human		name
152089522	CV1563111	single nucleotide variant	NM_005720.4(ARPC1B):c.989+16G>C	not provided [RCV002113881]	likely benign	7	99392892	99392892	Human		name
152103082	CV1571808	single nucleotide variant	NM_005720.4(ARPC1B):c.708-11T>C	not provided [RCV002173355]	likely benign	7	99391167	99391167	Human		name
152128205	CV1581319	single nucleotide variant	NM_005720.4(ARPC1B):c.1080+8T>C	not provided [RCV002099122]	likely benign	7	99394127	99394127	Human		name
152041362	CV1603179	single nucleotide variant	NM_005720.4(ARPC1B):c.989+11G>C	not provided [RCV002071058]	likely benign	7	99392887	99392887	Human		name
152165850	CV1618086	single nucleotide variant	NM_005720.4(ARPC1B):c.392+12G>C	not provided [RCV002204326]	benign	7	99388273	99388273	Human		name
152056337	CV1649562	duplication	NM_005720.4(ARPC1B):c.783+22dup	not provided [RCV002127825]	likely benign	7	99391272	99391273	Human		name
152160048	CV1649997	single nucleotide variant	NM_005720.4(ARPC1B):c.170-17C>T	not provided [RCV002159479]	likely benign	7	99388022	99388022	Human		name
152099733	CV1655136	duplication	NM_005720.4(ARPC1B):c.392+10dup	not provided [RCV002115169]	likely benign	7	99388270	99388271	Human		name
152125084	CV1665754	single nucleotide variant	NM_005720.4(ARPC1B):c.500+13G>A	not provided [RCV002198567]	likely benign	7	99390025	99390025	Human		name
156391993	CV1964969	single nucleotide variant	NM_005720.4(ARPC1B):c.784-18C>T	not provided [RCV002583958]	likely benign	7	99392653	99392653	Human		name
156007610	CV1981280	single nucleotide variant	NM_005720.4(ARPC1B):c.393-12C>A	not provided [RCV002618741]	likely benign	7	99389893	99389893	Human		name
156373918	CV2003773	single nucleotide variant	NM_005720.4(ARPC1B):c.990-10C>T	not provided [RCV002653128]	likely benign	7	99394019	99394019	Human		name
155951755	CV2014032	single nucleotide variant	NM_005720.4(ARPC1B):c.783+20G>A	not provided [RCV002686059]	likely benign	7	99391273	99391273	Human		name
156031384	CV2029787	single nucleotide variant	NM_005720.4(ARPC1B):c.708-18A>C	not provided [RCV002735821]	likely benign	7	99391160	99391160	Human		name
156233311	CV2048853	single nucleotide variant	NM_005720.4(ARPC1B):c.783+12G>A	not provided [RCV002791079]	likely benign	7	99391265	99391265	Human		name
156124153	CV2052469	single nucleotide variant	NM_005720.4(ARPC1B):c.500+16A>C	not provided [RCV002825418]	likely benign	7	99390028	99390028	Human		name
156012538	CV2122997	deletion	NM_005720.4(ARPC1B):c.170-16del	not provided [RCV002975724]	likely benign	7	99388021	99388021	Human		name
156332855	CV2181799	single nucleotide variant	NM_005720.4(ARPC1B):c.989+17G>A	not provided [RCV003047319]	likely benign	7	99392893	99392893	Human		name
405124389	CV3021151	single nucleotide variant	NM_005720.4(ARPC1B):c.784-14C>T	not provided [RCV003701093]	likely benign	7	99392657	99392657	Human		name
402478691	CV3033033	single nucleotide variant	NM_005720.4(ARPC1B):c.989+12A>G	not provided [RCV003712593]	likely benign	7	99392888	99392888	Human		name
405141474	CV3131178	single nucleotide variant	NM_005720.4(ARPC1B):c.783+16G>A	not provided [RCV003839218]	likely benign	7	99391269	99391269	Human		name
405164509	CV3160428	single nucleotide variant	NM_005720.4(ARPC1B):c.500+19G>A	not provided [RCV003857308]	likely benign	7	99390031	99390031	Human		name
402476700	CV3173849	single nucleotide variant	NM_005720.4(ARPC1B):c.990-17C>T	not provided [RCV003875387]	likely benign	7	99394012	99394012	Human		name
597970289	CV3750203	single nucleotide variant	NM_005720.4(ARPC1B):c.989+15C>G	not provided [RCV005084144]	likely benign	7	99392891	99392891	Human		name
597832138	CV3751262	deletion	NM_005720.4(ARPC1B):c.784-14del	not provided [RCV005084808]	benign	7	99392653	99392653	Human		name
597954968	CV3754079	deletion	NM_005720.4(ARPC1B):c.707+20del	not provided [RCV005080122]	likely benign	7	99391119	99391119	Human		name
597939905	CV3760575	single nucleotide variant	NM_005720.4(ARPC1B):c.784-20G>A	not provided [RCV005077302]	likely benign	7	99392651	99392651	Human		name
597853813	CV3781988	single nucleotide variant	NM_005720.4(ARPC1B):c.392+11A>G	not provided [RCV005128480]	likely benign	7	99388272	99388272	Human		name
597858964	CV3788606	single nucleotide variant	NM_005720.4(ARPC1B):c.1081-7C>T	not provided [RCV005133281]	likely benign	7	99394444	99394444	Human		name
597861699	CV3798160	single nucleotide variant	NM_005720.4(ARPC1B):c.169+18G>C	not provided [RCV005135940]	likely benign	7	99386807	99386807	Human		name
597878410	CV3804115	single nucleotide variant	NM_005720.4(ARPC1B):c.170-14C>T	not provided [RCV005153661]	likely benign	7	99388025	99388025	Human		name
597874729	CV3810570	single nucleotide variant	NM_005720.4(ARPC1B):c.170-12A>C	not provided [RCV005149839]	likely benign	7	99388027	99388027	Human		name
597903741	CV3834778	single nucleotide variant	NM_005720.4(ARPC1B):c.500+19G>T	not provided [RCV005178501]	likely benign	7	99390031	99390031	Human		name
597932663	CV3858844	single nucleotide variant	NM_005720.4(ARPC1B):c.708-19C>T	not provided [RCV005207314]	likely benign	7	99391159	99391159	Human		name
152088893	CV1541458	single nucleotide variant	NM_005720.4(ARPC1B):c.1081-17G>A	not provided [RCV002171566]	likely benign	7	99394434	99394434	Human		name
152127818	CV1596450	single nucleotide variant	NM_005720.4(ARPC1B):c.1080+18T>C	not provided [RCV002118683]	likely benign	7	99394137	99394137	Human		name
152077756	CV1601946	single nucleotide variant	NM_005720.4(ARPC1B):c.1080+12C>T	not provided [RCV002148915]	likely benign	7	99394131	99394131	Human		name
152148234	CV1618862	single nucleotide variant	NM_005720.4(ARPC1B):c.1081-16T>G	not provided [RCV002121384]	likely benign	7	99394435	99394435	Human		name
156160286	CV1984475	single nucleotide variant	NM_005720.4(ARPC1B):c.1081-17G>C	not provided [RCV002642382]	likely benign	7	99394434	99394434	Human		name
405198942	CV3164524	single nucleotide variant	NM_005720.4(ARPC1B):c.1080+19G>A	not provided [RCV003860581]	likely benign	7	99394138	99394138	Human		name
597832604	CV3760249	single nucleotide variant	NM_005720.4(ARPC1B):c.1081-18C>T	not provided [RCV005084992]	likely benign	7	99394433	99394433	Human		name
404987770	CV2849485	single nucleotide variant	NM_005720.4(ARPC1B):c.1081-130C>T	not specified [RCV003490342]	benign	7	99394321	99394321	Human		name
156006907	CV2127445	deletion	NM_005720.4(ARPC1B):c.64+4_64+24del	not provided [RCV002948062]	uncertain significance	7	99385779	99385799	Human		name
151761297	CV1358171	duplication	NM_005720.4(ARPC1B):c.1059_1080+1dup	not provided [RCV001928550]	uncertain significance	7	99394095	99394096	Human		name
152148124	CV1618840	single nucleotide variant	NM_005720.4(ARPC1B):c.12C>T (p.His4=)	not provided [RCV002121369]	likely benign	7	99385726	99385726	Human		name
152164394	CV1543503	single nucleotide variant	NM_005720.4(ARPC1B):c.96G>A (p.Val32=)	not provided [RCV002123791]	likely benign	7	99386716	99386716	Human		name
152171993	CV1598927	duplication	NM_005720.4(ARPC1B):c.989+12_989+15dup	not provided [RCV002143626]	likely benign	7	99392887	99392888	Human		name
401922622	CV2825910	single nucleotide variant	NM_005720.4(ARPC1B):c.33C>T (p.Ile11=)	not provided [RCV003433965]	likely benign	7	99385747	99385747	Human		name
405177906	CV2861162	duplication	NM_005720.4(ARPC1B):c.783+14_783+16dup	not provided [RCV003542924]	likely benign	7	99391264	99391265	Human		name
405210231	CV3146168	single nucleotide variant	NM_005720.4(ARPC1B):c.42C>T (p.His14=)	ARPC1B-related disorder [RCV003939232]\|not provided [RCV003845699]	likely benign	7	99385756	99385756	Human	1	name , trait , alternate_id
597838828	CV3758171	single nucleotide variant	NM_005720.4(ARPC1B):c.99T>C (p.His33=)	not provided [RCV005086005]	likely benign	7	99386719	99386719	Human		name
127319987	CV1155816	single nucleotide variant	NM_005720.4(ARPC1B):c.156C>T (p.Asn52=)	not provided [RCV001522406]\|not specified [RCV003487409]	benign	7	99386776	99386776	Human		name
152051237	CV1523425	single nucleotide variant	NM_005720.4(ARPC1B):c.231C>T (p.Tyr77=)	not provided [RCV002127278]	benign\|likely benign	7	99388100	99388100	Human		name
152174233	CV1536189	single nucleotide variant	NM_005720.4(ARPC1B):c.255A>G (p.Thr85=)	not provided [RCV002144369]	likely benign	7	99388124	99388124	Human		name
152045202	CV1539445	single nucleotide variant	NM_005720.4(ARPC1B):c.138C>T (p.His46=)	not provided [RCV002145011]	likely benign	7	99386758	99386758	Human		name
152097473	CV1542273	single nucleotide variant	NM_005720.4(ARPC1B):c.225C>T (p.Asn75=)	not provided [RCV002195111]	likely benign	7	99388094	99388094	Human		name
152031109	CV1593378	single nucleotide variant	NM_005720.4(ARPC1B):c.114C>T (p.Ser38=)	not provided [RCV002106079]	likely benign	7	99386734	99386734	Human		name
152036825	CV1605644	single nucleotide variant	NM_005720.4(ARPC1B):c.174C>T (p.Ile58=)	not provided [RCV002107127]	benign	7	99388043	99388043	Human		name
152099865	CV1606631	single nucleotide variant	NM_005720.4(ARPC1B):c.267G>A (p.Thr89=)	not provided [RCV002195410]	likely benign	7	99388136	99388136	Human		name
152052634	CV1622682	single nucleotide variant	NM_005720.4(ARPC1B):c.240G>A (p.Thr80=)	not provided [RCV002207710]	likely benign	7	99388109	99388109	Human		name
152144543	CV1658160	single nucleotide variant	NM_005720.4(ARPC1B):c.219C>T (p.Asp73=)	not provided [RCV002219832]	likely benign	7	99388088	99388088	Human		name
152115035	CV1659739	single nucleotide variant	NM_005720.4(ARPC1B):c.276C>T (p.Ile92=)	not provided [RCV002080777]	likely benign	7	99388145	99388145	Human		name
155915158	CV1980761	single nucleotide variant	NM_005720.4(ARPC1B):c.186C>T (p.Pro62=)	not provided [RCV002614270]	likely benign	7	99388055	99388055	Human		name
156074656	CV1985499	single nucleotide variant	NM_005720.4(ARPC1B):c.210C>T (p.Cys70=)	not provided [RCV002638705]	likely benign	7	99388079	99388079	Human		name
156110806	CV2008623	single nucleotide variant	NM_005720.4(ARPC1B):c.153C>T (p.His51=)	not provided [RCV002695662]	likely benign	7	99386773	99386773	Human		name
405151237	CV3031309	single nucleotide variant	NM_005720.4(ARPC1B):c.201T>C (p.Ile67=)	not provided [RCV003703258]	likely benign	7	99388070	99388070	Human		name
597873975	CV3747405	single nucleotide variant	NM_005720.4(ARPC1B):c.204G>A (p.Val68=)	not provided [RCV005069089]	likely benign	7	99388073	99388073	Human		name
126727986	CV1016978	single nucleotide variant	NM_005720.4(ARPC1B):c.783G>A (p.Ala261=)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001332663]\|not provided [RCV001865762]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	99391253	99391253	Human	1	name
127326816	CV1139080	single nucleotide variant	NM_005720.4(ARPC1B):c.432C>T (p.Thr144=)	ARPC1B-related disorder [RCV004754765]\|not provided [RCV001486148]	likely benign	7	99389944	99389944	Human	1	name , trait , alternate_id
127320313	CV1155817	single nucleotide variant	NM_005720.4(ARPC1B):c.339G>A (p.Val113=)	ARPC1B-related disorder [RCV003980626]\|not provided [RCV001522577]	benign\|likely benign	7	99388208	99388208	Human	1	name , trait , alternate_id
127297187	CV1155819	single nucleotide variant	NM_005720.4(ARPC1B):c.909G>A (p.Gln303=)	not provided [RCV001512782]	benign	7	99392796	99392796	Human		name
151877780	CV1342372	single nucleotide variant	NM_005720.4(ARPC1B):c.51C>G (p.Asn17Lys)	not provided [RCV001961257]\|not specified [RCV002268590]	uncertain significance	7	99385765	99385765	Human		name
151830748	CV1354139	single nucleotide variant	NM_005720.4(ARPC1B):c.66G>T (p.Gln22His)	not provided [RCV001880287]	uncertain significance	7	99386686	99386686	Human		name
151856110	CV1376415	single nucleotide variant	NM_005720.4(ARPC1B):c.58C>T (p.Arg20Cys)	not provided [RCV002033793]	uncertain significance	7	99385772	99385772	Human		name
151857826	CV1377480	single nucleotide variant	NM_005720.4(ARPC1B):c.942C>T (p.Gly314=)	not provided [RCV001938167]	likely benign\|uncertain significance	7	99392829	99392829	Human		name
151836005	CV1382990	single nucleotide variant	NM_005720.4(ARPC1B):c.52A>C (p.Lys18Gln)	Inborn genetic diseases [RCV002557721]\|not provided [RCV001935563]	uncertain significance	7	99385766	99385766	Human	1	name
151746552	CV1462237	single nucleotide variant	NM_005720.4(ARPC1B):c.61A>G (p.Thr21Ala)	not provided [RCV001968706]	uncertain significance	7	99385775	99385775	Human		name
151806233	CV1482305	single nucleotide variant	NM_005720.4(ARPC1B):c.59G>A (p.Arg20His)	not provided [RCV002048431]	uncertain significance	7	99385773	99385773	Human		name
152027547	CV1520869	single nucleotide variant	NM_005720.4(ARPC1B):c.552G>A (p.Pro184=)	not provided [RCV002085166]	likely benign	7	99390944	99390944	Human		name
152116749	CV1523859	single nucleotide variant	NM_005720.4(ARPC1B):c.477C>T (p.Ala159=)	not provided [RCV002135193]	likely benign	7	99389989	99389989	Human		name
152091241	CV1525878	single nucleotide variant	NM_005720.4(ARPC1B):c.321C>T (p.Asn107=)	not provided [RCV002150615]	likely benign	7	99388190	99388190	Human		name
152067456	CV1529319	single nucleotide variant	NM_005720.4(ARPC1B):c.885C>T (p.Gly295=)	not provided [RCV002168859]	likely benign	7	99392772	99392772	Human		name
152037981	CV1530354	single nucleotide variant	NM_005720.4(ARPC1B):c.741G>A (p.Leu247=)	not provided [RCV002087527]	likely benign	7	99391211	99391211	Human		name
152028962	CV1555593	single nucleotide variant	NM_005720.4(ARPC1B):c.984C>T (p.Ser328=)	not provided [RCV002186009]	likely benign	7	99392871	99392871	Human		name
152066456	CV1557022	single nucleotide variant	NM_005720.4(ARPC1B):c.825C>T (p.Ala275=)	ARPC1B-related disorder [RCV003971154]\|not provided [RCV002191232]	benign\|likely benign	7	99392712	99392712	Human	1	name , trait , alternate_id
152041254	CV1558159	single nucleotide variant	NM_005720.4(ARPC1B):c.408C>T (p.His136=)	not provided [RCV002126121]	likely benign	7	99389920	99389920	Human		name
152155062	CV1563721	insertion	NM_005720.4(ARPC1B):c.393-13_393-12insAT	not provided [RCV002202549]	likely benign	7	99389892	99389893	Human		name
152097074	CV1566172	single nucleotide variant	NM_005720.4(ARPC1B):c.666C>T (p.His222=)	not provided [RCV002094990]	likely benign	7	99391058	99391058	Human		name
152155980	CV1572965	single nucleotide variant	NM_005720.4(ARPC1B):c.936G>A (p.Glu312=)	not provided [RCV002180136]	likely benign	7	99392823	99392823	Human		name
152026863	CV1583155	single nucleotide variant	NM_005720.4(ARPC1B):c.739C>T (p.Leu247=)	not provided [RCV002084940]	benign	7	99391209	99391209	Human		name
152068780	CV1589083	single nucleotide variant	NM_005720.4(ARPC1B):c.915G>A (p.Leu305=)	not provided [RCV002209705]	likely benign	7	99392802	99392802	Human		name
152058830	CV1597312	single nucleotide variant	NM_005720.4(ARPC1B):c.807G>C (p.Leu269=)	not provided [RCV002128104]	likely benign	7	99392694	99392694	Human		name
152035557	CV1604203	single nucleotide variant	NM_005720.4(ARPC1B):c.345C>T (p.Ser115=)	not provided [RCV002087148]	likely benign	7	99388214	99388214	Human		name
152171094	CV1612793	single nucleotide variant	NM_005720.4(ARPC1B):c.930C>T (p.Ser310=)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV003224615]\|not provided [RCV002183382]	likely benign	7	99392817	99392817	Human	1	name
152049774	CV1615194	single nucleotide variant	NM_005720.4(ARPC1B):c.969G>C (p.Ser323=)	not provided [RCV002089005]	likely benign	7	99392856	99392856	Human		name
152065847	CV1620082	single nucleotide variant	NM_005720.4(ARPC1B):c.886T>C (p.Leu296=)	not provided [RCV002209327]	likely benign	7	99392773	99392773	Human		name
152139321	CV1624957	single nucleotide variant	NM_005720.4(ARPC1B):c.462T>C (p.Asn154=)	not provided [RCV002219165]	likely benign	7	99389974	99389974	Human		name
152160226	CV1655587	single nucleotide variant	NM_005720.4(ARPC1B):c.675C>T (p.Thr225=)	not provided [RCV002203304]	likely benign	7	99391067	99391067	Human		name
152088769	CV1655749	single nucleotide variant	NM_005720.4(ARPC1B):c.912C>T (p.Asn304=)	not provided [RCV002194016]	benign	7	99392799	99392799	Human		name
152174211	CV1662572	single nucleotide variant	NM_005720.4(ARPC1B):c.945G>A (p.Thr315=)	not provided [RCV002163074]	likely benign	7	99392832	99392832	Human		name
152054304	CV1665410	single nucleotide variant	NM_005720.4(ARPC1B):c.648C>T (p.Arg216=)	ARPC1B-related disorder [RCV003923429]\|not provided [RCV002089520]	benign\|likely benign	7	99391040	99391040	Human	1	name , trait , alternate_id
156199412	CV1916665	single nucleotide variant	NM_005720.4(ARPC1B):c.621C>T (p.Gly207=)	not provided [RCV002595648]	uncertain significance	7	99391013	99391013	Human		name
156153519	CV1934609	single nucleotide variant	NM_005720.4(ARPC1B):c.303C>T (p.Cys101=)	not provided [RCV002663977]	likely benign	7	99388172	99388172	Human		name
156444421	CV1938363	single nucleotide variant	NM_005720.4(ARPC1B):c.357G>C (p.Val119=)	not provided [RCV003115345]	likely benign	7	99388226	99388226	Human		name
156289797	CV1961425	single nucleotide variant	NM_005720.4(ARPC1B):c.513C>T (p.Ala171=)	not provided [RCV002577783]	likely benign	7	99390905	99390905	Human		name
156354178	CV1962248	single nucleotide variant	NM_005720.4(ARPC1B):c.747G>A (p.Ala249=)	not provided [RCV002581273]	likely benign	7	99391217	99391217	Human		name
156417363	CV1970354	single nucleotide variant	NM_005720.4(ARPC1B):c.957G>A (p.Ala319=)	not provided [RCV002590151]	likely benign	7	99392844	99392844	Human		name
156237162	CV1973039	single nucleotide variant	NM_005720.4(ARPC1B):c.741G>T (p.Leu247=)	not provided [RCV002597017]	likely benign	7	99391211	99391211	Human		name
156248913	CV1989016	single nucleotide variant	NM_005720.4(ARPC1B):c.77G>C (p.Cys26Ser)	not provided [RCV002627385]	uncertain significance	7	99386697	99386697	Human		name
156078917	CV2022544	single nucleotide variant	NM_005720.4(ARPC1B):c.819C>T (p.Asp273=)	not provided [RCV002760560]	likely benign	7	99392706	99392706	Human		name
156194882	CV2024296	single nucleotide variant	NM_005720.4(ARPC1B):c.822C>T (p.Ala274=)	not provided [RCV002711207]	likely benign	7	99392709	99392709	Human		name
155903566	CV2031259	single nucleotide variant	NM_005720.4(ARPC1B):c.639C>T (p.Ser213=)	not provided [RCV002726332]	likely benign	7	99391031	99391031	Human		name
155959061	CV2078586	single nucleotide variant	NM_005720.4(ARPC1B):c.618T>C (p.His206=)	not provided [RCV002880929]	likely benign	7	99391010	99391010	Human		name
156213494	CV2087336	single nucleotide variant	NM_005720.4(ARPC1B):c.759C>T (p.Ile253=)	not provided [RCV002852919]	likely benign	7	99391229	99391229	Human		name
156021174	CV2148085	single nucleotide variant	NM_005720.4(ARPC1B):c.444G>A (p.Leu148=)	not provided [RCV003018236]	likely benign\|uncertain significance	7	99389956	99389956	Human		name
156190575	CV2160823	single nucleotide variant	NM_005720.4(ARPC1B):c.954C>T (p.Gly318=)	not provided [RCV003024116]	likely benign	7	99392841	99392841	Human		name
156182625	CV2298626	single nucleotide variant	NM_005720.4(ARPC1B):c.39C>G (p.Cys13Trp)	Inborn genetic diseases [RCV002892065]	uncertain significance	7	99385753	99385753	Human	1	name
401773868	CV2691435	single nucleotide variant	NM_005720.4(ARPC1B):c.94G>A (p.Val32Met)	Inborn genetic diseases [RCV003285550]	uncertain significance	7	99386714	99386714	Human	1	name
405189999	CV2871217	single nucleotide variant	NM_005720.4(ARPC1B):c.570C>T (p.Pro190=)	not provided [RCV003550315]	likely benign	7	99390962	99390962	Human		name
402473575	CV2919392	single nucleotide variant	NM_005720.4(ARPC1B):c.951G>T (p.Ala317=)	not provided [RCV003571029]	likely benign	7	99392838	99392838	Human		name
405092550	CV2937452	single nucleotide variant	NM_005720.4(ARPC1B):c.711C>T (p.Val237=)	not provided [RCV003665314]	likely benign	7	99391181	99391181	Human		name
405074092	CV2940613	single nucleotide variant	NM_005720.4(ARPC1B):c.732A>G (p.Thr244=)	not provided [RCV003659595]	likely benign	7	99391202	99391202	Human		name
405216327	CV2972053	single nucleotide variant	NM_005720.4(ARPC1B):c.999G>C (p.Ser333=)	not provided [RCV003680071]	likely benign	7	99394038	99394038	Human		name
405120839	CV3024518	single nucleotide variant	NM_005720.4(ARPC1B):c.828G>A (p.Ala276=)	not provided [RCV003700742]	likely benign	7	99392715	99392715	Human		name
405240919	CV3060970	single nucleotide variant	NM_005720.4(ARPC1B):c.429C>T (p.Ser143=)	not provided [RCV003737239]	likely benign	7	99389941	99389941	Human		name
404976969	CV3117447	single nucleotide variant	NM_005720.4(ARPC1B):c.876G>A (p.Ser292=)	not provided [RCV003825219]	likely benign	7	99392763	99392763	Human		name
404981044	CV3121026	single nucleotide variant	NM_005720.4(ARPC1B):c.999G>A (p.Ser333=)	not provided [RCV003826018]	benign	7	99394038	99394038	Human		name
405231506	CV3144522	single nucleotide variant	NM_005720.4(ARPC1B):c.453C>T (p.His151=)	not provided [RCV003852975]	likely benign	7	99389965	99389965	Human		name
405044050	CV3150283	single nucleotide variant	NM_005720.4(ARPC1B):c.693C>T (p.Ala231=)	not provided [RCV003849077]	likely benign	7	99391085	99391085	Human		name
405083840	CV3167217	single nucleotide variant	NM_005720.4(ARPC1B):c.540G>A (p.Pro180=)	not provided [RCV003851798]	likely benign	7	99390932	99390932	Human		name
597899378	CV3740932	single nucleotide variant	NM_005720.4(ARPC1B):c.957G>C (p.Ala319=)	not provided [RCV005072095]	likely benign	7	99392844	99392844	Human		name
597899597	CV3740956	single nucleotide variant	NM_005720.4(ARPC1B):c.315C>T (p.Ala105=)	not provided [RCV005072119]	likely benign	7	99388184	99388184	Human		name
597958137	CV3755262	single nucleotide variant	NM_005720.4(ARPC1B):c.68T>C (p.Ile23Thr)	not provided [RCV005080932]	uncertain significance	7	99386688	99386688	Human		name
597943665	CV3757979	single nucleotide variant	NM_005720.4(ARPC1B):c.714G>A (p.Ala238=)	not provided [RCV005077978]	likely benign	7	99391184	99391184	Human		name
597845577	CV3765577	single nucleotide variant	NM_005720.4(ARPC1B):c.750G>A (p.Leu250=)	not provided [RCV005121221]	likely benign	7	99391220	99391220	Human		name
597884608	CV3816403	single nucleotide variant	NM_005720.4(ARPC1B):c.588C>T (p.Phe196=)	not provided [RCV005159464]	likely benign	7	99390980	99390980	Human		name
597879533	CV3817421	single nucleotide variant	NM_005720.4(ARPC1B):c.855G>C (p.Leu285=)	not provided [RCV005154623]	likely benign	7	99392742	99392742	Human		name
597891807	CV3832662	single nucleotide variant	NM_005720.4(ARPC1B):c.642G>A (p.Gly214=)	not provided [RCV005166741]	likely benign	7	99391034	99391034	Human		name
598174972	CV3905256	single nucleotide variant	NM_005720.4(ARPC1B):c.58C>A (p.Arg20Ser)	Inborn genetic diseases [RCV005263938]	uncertain significance	7	99385772	99385772	Human	1	name
15166226	CV700321	single nucleotide variant	NM_005720.4(ARPC1B):c.98A>G (p.His33Arg)	not provided [RCV000948784]	benign	7	99386718	99386718	Human		name
15131916	CV736384	single nucleotide variant	NM_005720.4(ARPC1B):c.546C>T (p.Pro182=)	ARPC1B-related disorder [RCV003940807]\|not provided [RCV000897862]	benign\|likely benign	7	99390938	99390938	Human	1	name , trait , alternate_id
126728608	CV992531	single nucleotide variant	NM_005720.4(ARPC1B):c.708C>T (p.Ala236=)	Inborn genetic diseases [RCV004671324]\|not provided [RCV001303431]	likely benign\|uncertain significance	7	99391178	99391178	Human	1	name
126731731	CV1028262	single nucleotide variant	NM_005720.4(ARPC1B):c.200T>C (p.Ile67Thr)	not provided [RCV001349476]	uncertain significance	7	99388069	99388069	Human		name
127319981	CV1155815	single nucleotide variant	NM_005720.4(ARPC1B):c.111G>C (p.Lys37Asn)	ARPC1B-related disorder [RCV003983958]\|not provided [RCV001522405]	benign	7	99386731	99386731	Human	4	name , trait , alternate_id
127319981	CV1155815	single nucleotide variant	NM_005720.4(ARPC1B):c.111G>C (p.Lys37Asn)	ARPC1B-related disorder [RCV003983958]\|not provided [RCV001522405]	benign	7	99386731	99386732	Human	4	name , trait , alternate_id
151840852	CV1361175	single nucleotide variant	NM_005720.4(ARPC1B):c.115G>A (p.Gly39Ser)	Inborn genetic diseases [RCV003339789]\|Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV005038438]\|not provided [RCV001881335]	uncertain significance	7	99386735	99386735	Human	2	name
151812588	CV1371613	single nucleotide variant	NM_005720.4(ARPC1B):c.196C>T (p.Arg66Cys)	not provided [RCV001933355]	uncertain significance	7	99388065	99388065	Human		name
151879743	CV1388315	single nucleotide variant	NM_005720.4(ARPC1B):c.195C>G (p.Asn65Lys)	not provided [RCV001982360]	uncertain significance	7	99388064	99388064	Human		name
151869774	CV1412210	single nucleotide variant	NM_005720.4(ARPC1B):c.250C>T (p.Arg84Cys)	not provided [RCV001884990]	uncertain significance	7	99388119	99388119	Human		name
151753754	CV1424774	single nucleotide variant	NM_005720.4(ARPC1B):c.266C>T (p.Thr89Met)	Inborn genetic diseases [RCV004953217]\|not provided [RCV001894599]	uncertain significance	7	99388135	99388135	Human	1	name
151871878	CV1429868	single nucleotide variant	NM_005720.4(ARPC1B):c.214A>G (p.Thr72Ala)	not provided [RCV002019059]	uncertain significance	7	99388083	99388083	Human		name
151761467	CV1433678	single nucleotide variant	NM_005720.4(ARPC1B):c.296C>T (p.Ala99Val)	not provided [RCV002024415]	uncertain significance	7	99388165	99388165	Human		name
151887237	CV1441566	single nucleotide variant	NM_005720.4(ARPC1B):c.231C>A (p.Tyr77Ter)	not provided [RCV001962933]	pathogenic	7	99388100	99388100	Human		name
151863814	CV1454513	single nucleotide variant	NM_005720.4(ARPC1B):c.239C>T (p.Thr80Met)	not provided [RCV001938914]	uncertain significance	7	99388108	99388108	Human		name
151754957	CV1467826	deletion	NM_005720.4(ARPC1B):c.491del (p.Phe164fs)	not provided [RCV001948527]	pathogenic	7	99390002	99390002	Human		name
151810649	CV1516498	single nucleotide variant	NM_005720.4(ARPC1B):c.133G>A (p.Val45Met)	not provided [RCV002012401]	uncertain significance	7	99386753	99386753	Human		name
152089643	CV1535617	single nucleotide variant	NM_005720.4(ARPC1B):c.1096T>C (p.Leu366=)	not provided [RCV002150422]	likely benign	7	99394466	99394466	Human		name
152130557	CV1582328	single nucleotide variant	NM_005720.4(ARPC1B):c.1107C>G (p.Leu369=)	not provided [RCV002099427]	likely benign	7	99394477	99394477	Human		name
152047151	CV1614415	single nucleotide variant	NM_005720.4(ARPC1B):c.1056C>T (p.Gly352=)	not provided [RCV002071731]	likely benign	7	99394095	99394095	Human		name
152115434	CV1639977	single nucleotide variant	NM_005720.4(ARPC1B):c.287A>G (p.Asn96Ser)	not provided [RCV002080822]	likely benign	7	99388156	99388156	Human		name
152138586	CV1645256	single nucleotide variant	NM_005720.4(ARPC1B):c.1023G>A (p.Lys341=)	not provided [RCV002137883]	likely benign	7	99394062	99394062	Human		name
152113637	CV1665429	single nucleotide variant	NM_005720.4(ARPC1B):c.1041C>T (p.Thr347=)	not provided [RCV002097183]	likely benign	7	99394080	99394080	Human		name
156027381	CV1906773	single nucleotide variant	NM_005720.4(ARPC1B):c.1011C>A (p.Gly337=)	ARPC1B-related disorder [RCV003898799]\|not provided [RCV003100490]	likely benign	7	99394050	99394050	Human	1	name , trait , alternate_id
156449765	CV1942033	single nucleotide variant	NM_005720.4(ARPC1B):c.197G>A (p.Arg66His)	not provided [RCV003121892]	uncertain significance	7	99388066	99388066	Human		name
156165007	CV1959817	single nucleotide variant	NM_005720.4(ARPC1B):c.163G>A (p.Val55Met)	Inborn genetic diseases [RCV004958572]\|not provided [RCV002573641]	uncertain significance	7	99386783	99386783	Human	1	name
156416045	CV1966421	single nucleotide variant	NM_005720.4(ARPC1B):c.1029G>A (p.Ser343=)	not provided [RCV002589499]	likely benign	7	99394068	99394068	Human		name
156411997	CV1972961	single nucleotide variant	NM_005720.4(ARPC1B):c.1020C>G (p.Ala340=)	not provided [RCV002587672]	likely benign	7	99394059	99394059	Human		name
156213096	CV2018964	single nucleotide variant	NM_005720.4(ARPC1B):c.139G>A (p.Glu47Lys)	not provided [RCV002700702]	uncertain significance	7	99386759	99386759	Human		name
156019033	CV2020686	single nucleotide variant	NM_005720.4(ARPC1B):c.285C>G (p.Ile95Met)	not provided [RCV002735286]	uncertain significance	7	99388154	99388154	Human		name
156028971	CV2039767	single nucleotide variant	NM_005720.4(ARPC1B):c.177C>A (p.Asp59Glu)	not provided [RCV002781029]	uncertain significance	7	99388046	99388046	Human		name
156219015	CV2128140	single nucleotide variant	NM_005720.4(ARPC1B):c.187G>A (p.Glu63Lys)	not provided [RCV002958065]	uncertain significance	7	99388056	99388056	Human		name
156299336	CV2159565	single nucleotide variant	NM_005720.4(ARPC1B):c.190A>G (p.Ser64Gly)	not provided [RCV003045476]	uncertain significance	7	99388059	99388059	Human		name
156341089	CV2174879	single nucleotide variant	NM_005720.4(ARPC1B):c.138C>G (p.His46Gln)	not provided [RCV003047741]	uncertain significance	7	99386758	99386758	Human		name
156351132	CV2189694	deletion	NM_005720.4(ARPC1B):c.863del (p.Pro288fs)	not provided [RCV003048344]	pathogenic	7	99392749	99392749	Human		name
156280509	CV2321619	single nucleotide variant	NM_005720.4(ARPC1B):c.239C>A (p.Thr80Lys)	Inborn genetic diseases [RCV002921684]	uncertain significance	7	99388108	99388108	Human	1	name
404977555	CV3012078	single nucleotide variant	NM_005720.4(ARPC1B):c.1029G>C (p.Ser343=)	not provided [RCV003690647]	likely benign	7	99394068	99394068	Human		name
405186330	CV3040516	deletion	NM_005720.4(ARPC1B):c.323del (p.Glu108fs)	not provided [RCV003706049]	pathogenic	7	99388192	99388192	Human		name
405068023	CV3145176	single nucleotide variant	NM_005720.4(ARPC1B):c.1116A>G (p.Lys372=)	not provided [RCV003850758]	likely benign	7	99394486	99394486	Human		name
405245425	CV3161821	single nucleotide variant	NM_005720.4(ARPC1B):c.1011C>T (p.Gly337=)	not provided [RCV003868534]	likely benign	7	99394050	99394050	Human		name
405270769	CV3219789	single nucleotide variant	NM_005720.4(ARPC1B):c.1083C>T (p.Ser361=)	ARPC1B-related disorder [RCV003971525]\|not provided [RCV005102991]	likely benign	7	99394453	99394453	Human	1	name , trait , alternate_id
405691005	CV3227408	single nucleotide variant	NM_005720.4(ARPC1B):c.180G>A (p.Trp60Ter)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV003991752]	uncertain significance	7	99388049	99388049	Human	1	name
407468928	CV3473344	single nucleotide variant	NM_005720.4(ARPC1B):c.272T>C (p.Val91Ala)	Inborn genetic diseases [RCV004661298]	uncertain significance	7	99388141	99388141	Human	1	name
598175147	CV3905282	single nucleotide variant	NM_005720.4(ARPC1B):c.115G>C (p.Gly39Arg)	Inborn genetic diseases [RCV005263963]	uncertain significance	7	99386735	99386735	Human	1	name
126727983	CV1016977	single nucleotide variant	NM_005720.4(ARPC1B):c.484T>G (p.Cys162Gly)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001332662]\|not provided [RCV001865761]	uncertain significance	7	99389996	99389996	Human	1	name
126727989	CV1016979	single nucleotide variant	NM_005720.4(ARPC1B):c.985G>A (p.Val329Ile)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001332664]	uncertain significance	7	99392872	99392872	Human	1	name
126733117	CV1028263	single nucleotide variant	NM_005720.4(ARPC1B):c.982A>T (p.Ser328Cys)	not provided [RCV001349720]	uncertain significance	7	99392869	99392869	Human		name
127327622	CV1118147	single nucleotide variant	NM_005720.4(ARPC1B):c.834G>A (p.Met278Ile)	ARPC1B-related disorder [RCV003938836]\|not provided [RCV001469153]	likely benign	7	99392721	99392721	Human	1	name , trait , alternate_id
150532067	CV1291963	single nucleotide variant	NM_005720.4(ARPC1B):c.713C>T (p.Ala238Val)	Inborn genetic diseases [RCV005262529]\|Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001733629]\|not provided [RCV002032738]	uncertain significance	7	99391183	99391183	Human	2	name
151766516	CV1341204	single nucleotide variant	NM_005720.4(ARPC1B):c.781G>T (p.Ala261Ser)	not provided [RCV001874024]	uncertain significance	7	99391251	99391251	Human		name
151831485	CV1343644	single nucleotide variant	NM_005720.4(ARPC1B):c.826G>A (p.Ala276Thr)	Inborn genetic diseases [RCV005262606]\|not provided [RCV001920533]	uncertain significance	7	99392713	99392713	Human	1	name
151845907	CV1346291	single nucleotide variant	NM_005720.4(ARPC1B):c.327C>G (p.Asn109Lys)	Inborn genetic diseases [RCV004656765]\|not provided [RCV001936703]	uncertain significance	7	99388196	99388196	Human	1	name
151829616	CV1348484	single nucleotide variant	NM_005720.4(ARPC1B):c.746C>T (p.Ala249Val)	not provided [RCV001870404]	uncertain significance	7	99391216	99391216	Human		name
151874000	CV1356462	single nucleotide variant	NM_005720.4(ARPC1B):c.980A>G (p.Asn327Ser)	Inborn genetic diseases [RCV002557660]\|not provided [RCV001925580]	uncertain significance	7	99392867	99392867	Human	1	name
151710957	CV1377251	single nucleotide variant	NM_005720.4(ARPC1B):c.775G>C (p.Val259Leu)	not provided [RCV001889369]	uncertain significance	7	99391245	99391245	Human		name
151823030	CV1378256	single nucleotide variant	NM_005720.4(ARPC1B):c.646C>T (p.Arg216Cys)	Inborn genetic diseases [RCV002545299]\|not provided [RCV002049990]	uncertain significance	7	99391038	99391038	Human	1	name
151823045	CV1378263	single nucleotide variant	NM_005720.4(ARPC1B):c.299G>A (p.Arg100His)	not provided [RCV002049991]	uncertain significance	7	99388168	99388168	Human		name
151825566	CV1392111	single nucleotide variant	NM_005720.4(ARPC1B):c.873C>A (p.Ser291Arg)	not provided [RCV001879624]	uncertain significance	7	99392760	99392760	Human		name
151889951	CV1394658	single nucleotide variant	NM_005720.4(ARPC1B):c.902G>A (p.Arg301His)	not provided [RCV001888295]	uncertain significance	7	99392789	99392789	Human		name
151818494	CV1397490	single nucleotide variant	NM_005720.4(ARPC1B):c.934G>C (p.Glu312Gln)	not provided [RCV001992534]	uncertain significance	7	99392821	99392821	Human		name
151857833	CV1399665	single nucleotide variant	NM_005720.4(ARPC1B):c.424C>T (p.Arg142Cys)	Inborn genetic diseases [RCV003348633]\|not provided [RCV001923623]	uncertain significance	7	99389936	99389936	Human	1	name
151742038	CV1404958	single nucleotide variant	NM_005720.4(ARPC1B):c.694G>A (p.Asp232Asn)	Inborn genetic diseases [RCV004040387]\|not provided [RCV001947193]	uncertain significance	7	99391086	99391086	Human	1	name
151769495	CV1410597	single nucleotide variant	NM_005720.4(ARPC1B):c.563A>G (p.Lys188Arg)	Inborn genetic diseases [RCV004043801]\|not provided [RCV001988099]	uncertain significance	7	99390955	99390955	Human	1	name
151807882	CV1417779	single nucleotide variant	NM_005720.4(ARPC1B):c.499C>T (p.Arg167Trp)	not provided [RCV001867724]	uncertain significance	7	99390011	99390011	Human		name
151774901	CV1420074	single nucleotide variant	NM_005720.4(ARPC1B):c.346G>A (p.Gly116Ser)	not provided [RCV002009198]	uncertain significance	7	99388215	99388215	Human		name
151841309	CV1423724	single nucleotide variant	NM_005720.4(ARPC1B):c.313G>T (p.Ala105Ser)	not provided [RCV001977726]	uncertain significance	7	99388182	99388182	Human		name
151779975	CV1442663	single nucleotide variant	NM_005720.4(ARPC1B):c.998C>T (p.Ser333Leu)	not provided [RCV002009645]	uncertain significance	7	99394037	99394037	Human		name
151803175	CV1456736	single nucleotide variant	NM_005720.4(ARPC1B):c.613G>A (p.Val205Ile)	not provided [RCV001877556]	uncertain significance	7	99391005	99391005	Human		name
151874900	CV1461122	single nucleotide variant	NM_005720.4(ARPC1B):c.473C>T (p.Ala158Val)	not provided [RCV001925688]	uncertain significance	7	99389985	99389985	Human		name
151714164	CV1469595	single nucleotide variant	NM_005720.4(ARPC1B):c.604T>C (p.Cys202Arg)	not provided [RCV001889987]	uncertain significance	7	99390996	99390996	Human		name
151866676	CV1479170	single nucleotide variant	NM_005720.4(ARPC1B):c.797T>G (p.Phe266Cys)	not provided [RCV002035139]	uncertain significance	7	99392684	99392684	Human		name
151765910	CV1485892	single nucleotide variant	NM_005720.4(ARPC1B):c.820G>A (p.Ala274Thr)	not provided [RCV002044775]	uncertain significance	7	99392707	99392707	Human		name
151722192	CV1489712	single nucleotide variant	NM_005720.4(ARPC1B):c.478G>A (p.Gly160Ser)	Inborn genetic diseases [RCV005262585]\|not provided [RCV001891266]	uncertain significance	7	99389990	99389990	Human	1	name
151761449	CV1496421	single nucleotide variant	NM_005720.4(ARPC1B):c.479G>T (p.Gly160Val)	not provided [RCV001895368]	uncertain significance	7	99389991	99389991	Human		name
151733845	CV1497574	single nucleotide variant	NM_005720.4(ARPC1B):c.446A>C (p.Asp149Ala)	Inborn genetic diseases [RCV002562069]\|not provided [RCV001984473]	uncertain significance	7	99389958	99389958	Human	1	name
151752394	CV1508529	single nucleotide variant	NM_005720.4(ARPC1B):c.503T>C (p.Ile168Thr)	Inborn genetic diseases [RCV002608048]\|not provided [RCV001986423]	uncertain significance	7	99390895	99390895	Human	1	name
151874815	CV1511592	single nucleotide variant	NM_005720.4(ARPC1B):c.649G>A (p.Val217Met)	not provided [RCV001960912]	uncertain significance	7	99391041	99391041	Human		name
153305230	CV1687627	single nucleotide variant	NM_005720.4(ARPC1B):c.311G>C (p.Trp104Ser)	not provided [RCV002263448]	likely pathogenic	7	99388180	99388180	Human		name
156217063	CV1903411	single nucleotide variant	NM_005720.4(ARPC1B):c.712G>A (p.Ala238Thr)	not provided [RCV003084840]	uncertain significance	7	99391182	99391182	Human		name
155937237	CV1917131	single nucleotide variant	NM_005720.4(ARPC1B):c.322G>A (p.Glu108Lys)	not provided [RCV002615392]	uncertain significance	7	99388191	99388191	Human		name
156442739	CV1948847	single nucleotide variant	NM_005720.4(ARPC1B):c.647G>A (p.Arg216His)	not provided [RCV003113091]	uncertain significance	7	99391039	99391039	Human		name
156414602	CV1986768	single nucleotide variant	NM_005720.4(ARPC1B):c.958G>A (p.Gly320Ser)	not provided [RCV002609279]	uncertain significance	7	99392845	99392845	Human		name
156008484	CV1989531	single nucleotide variant	NM_005720.4(ARPC1B):c.815A>G (p.Tyr272Cys)	not provided [RCV002636098]	uncertain significance	7	99392702	99392702	Human		name
156382084	CV2004874	single nucleotide variant	NM_005720.4(ARPC1B):c.782C>T (p.Ala261Val)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV004725347]\|not provided [RCV002653733]	uncertain significance	7	99391252	99391252	Human	1	name
156375820	CV2024695	single nucleotide variant	NM_005720.4(ARPC1B):c.628T>G (p.Phe210Val)	not provided [RCV002721910]	uncertain significance	7	99391020	99391020	Human		name
156032445	CV2037023	single nucleotide variant	NM_005720.4(ARPC1B):c.823G>A (p.Ala275Thr)	Inborn genetic diseases [RCV004064766]\|not provided [RCV002781166]	uncertain significance	7	99392710	99392710	Human	1	name
156213173	CV2037050	single nucleotide variant	NM_005720.4(ARPC1B):c.676G>A (p.Val226Ile)	ARPC1B-related disorder [RCV003943504]\|not provided [RCV002790328]	likely benign	7	99391068	99391068	Human	1	name , trait , alternate_id
155919802	CV2073647	single nucleotide variant	NM_005720.4(ARPC1B):c.764A>G (p.Asp255Gly)	not provided [RCV002838259]	uncertain significance	7	99391234	99391234	Human		name
156020795	CV2110994	single nucleotide variant	NM_005720.4(ARPC1B):c.599G>A (p.Ser200Asn)	not provided [RCV002909602]	uncertain significance	7	99390991	99390991	Human		name
155933245	CV2129301	single nucleotide variant	NM_005720.4(ARPC1B):c.622G>A (p.Val208Ile)	not provided [RCV002970753]	uncertain significance	7	99391014	99391014	Human		name
155992407	CV2145436	single nucleotide variant	NM_005720.4(ARPC1B):c.803T>G (p.Val268Gly)	not provided [RCV002996629]	uncertain significance	7	99392690	99392690	Human		name
155902272	CV2151640	single nucleotide variant	NM_005720.4(ARPC1B):c.926C>T (p.Ala309Val)	not provided [RCV003011705]	uncertain significance	7	99392813	99392813	Human		name
156240219	CV2177072	single nucleotide variant	NM_005720.4(ARPC1B):c.589G>C (p.Glu197Gln)	not provided [RCV003043417]	uncertain significance	7	99390981	99390981	Human		name
156291448	CV2182989	single nucleotide variant	NM_005720.4(ARPC1B):c.427T>C (p.Ser143Pro)	not provided [RCV003027694]	uncertain significance	7	99389939	99389939	Human		name
156238010	CV2224250	single nucleotide variant	NM_005720.4(ARPC1B):c.815A>T (p.Tyr272Phe)	Inborn genetic diseases [RCV002713192]	uncertain significance	7	99392702	99392702	Human	1	name
156150317	CV2235000	single nucleotide variant	NM_005720.4(ARPC1B):c.721G>A (p.Ala241Thr)	Inborn genetic diseases [RCV002786856]	uncertain significance	7	99391191	99391191	Human	1	name
401761439	CV2699308	single nucleotide variant	NM_005720.4(ARPC1B):c.740T>A (p.Leu247Gln)	Inborn genetic diseases [RCV003280870]	uncertain significance	7	99391210	99391210	Human	1	name
405038712	CV2929764	single nucleotide variant	NM_005720.4(ARPC1B):c.384G>C (p.Glu128Asp)	not provided [RCV003578939]	uncertain significance	7	99388253	99388253	Human		name
405237997	CV3166995	single nucleotide variant	NM_005720.4(ARPC1B):c.701A>T (p.Lys234Met)	not provided [RCV003854250]	uncertain significance	7	99391093	99391093	Human		name
405269357	CV3187303	single nucleotide variant	NM_005720.4(ARPC1B):c.950C>T (p.Ala317Val)	not provided [RCV003887387]	uncertain significance	7	99392837	99392837	Human		name
405664705	CV3290320	single nucleotide variant	NM_005720.4(ARPC1B):c.881G>A (p.Arg294His)	Inborn genetic diseases [RCV004418093]	uncertain significance	7	99392768	99392768	Human	1	name
405664700	CV3290321	single nucleotide variant	NM_005720.4(ARPC1B):c.898G>C (p.Glu300Gln)	Inborn genetic diseases [RCV004418094]	uncertain significance	7	99392785	99392785	Human	1	name
596946537	CV3548384	single nucleotide variant	NM_005720.4(ARPC1B):c.970C>A (p.Leu324Met)	not provided [RCV004810210]	uncertain significance	7	99392857	99392857	Human		name
596946561	CV3548385	single nucleotide variant	NM_005720.4(ARPC1B):c.971T>G (p.Leu324Arg)	not provided [RCV004810211]	uncertain significance	7	99392858	99392858	Human		name
597708775	CV3583012	single nucleotide variant	NM_005720.4(ARPC1B):c.847G>A (p.Gly283Arg)	Inborn genetic diseases [RCV004957682]	uncertain significance	7	99392734	99392734	Human	1	name
597931388	CV3863138	single nucleotide variant	NM_005720.4(ARPC1B):c.949G>A (p.Ala317Thr)	not provided [RCV005205626]	uncertain significance	7	99392836	99392836	Human		name
598125460	CV3881606	single nucleotide variant	NM_005720.4(ARPC1B):c.977A>G (p.Lys326Arg)	not specified [RCV005232512]	uncertain significance	7	99392864	99392864	Human		name
13445790	CV438519	single nucleotide variant	NM_005720.4(ARPC1B):c.314C>T (p.Ala105Val)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV000512862]	pathogenic	7	99388183	99388183	Human	1	name
14699262	CV624369	single nucleotide variant	NM_005720.4(ARPC1B):c.932C>G (p.Ser311Cys)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001592965]\|not provided [RCV000788557]	uncertain significance	7	99392819	99392819	Human	1	name
15177440	CV736383	single nucleotide variant	NM_005720.4(ARPC1B):c.445G>T (p.Asp149Tyr)	not provided [RCV000906651]	benign	7	99389957	99389957	Human		name
38598186	CV963063	single nucleotide variant	NM_005720.4(ARPC1B):c.622G>T (p.Val208Phe)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001251025]	pathogenic	7	99391014	99391014	Human	1	name
38598188	CV963064	duplication	NM_005720.4(ARPC1B):c.1087dup (p.Glu363fs)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001251026]	pathogenic	7	99394455	99394456	Human	1	name
40903169	CV976758	single nucleotide variant	NM_005720.4(ARPC1B):c.308G>A (p.Arg103His)	Abnormal bleeding [RCV001270567]\|Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001333444]\|not provided [RCV002542862]	uncertain significance	7	99388177	99388177	Human	4	name
126918659	CV1045212	single nucleotide variant	NM_005720.4(ARPC1B):c.1049T>G (p.Met350Arg)	ARPC1B-related disorder [RCV004731137]\|not provided [RCV001361849]	likely benign\|uncertain significance	7	99394088	99394088	Human	1	name , trait , alternate_id
151807437	CV1337119	single nucleotide variant	NM_005720.4(ARPC1B):c.1117T>A (p.Ter373Arg)	not provided [RCV002028649]	uncertain significance	7	99394487	99394487	Human		name
151822341	CV1355232	single nucleotide variant	NM_005720.4(ARPC1B):c.1067T>A (p.Ile356Asn)	not provided [RCV001934266]	uncertain significance	7	99394106	99394106	Human		name
151851051	CV1378076	single nucleotide variant	NM_005720.4(ARPC1B):c.1075G>A (p.Val359Met)	not provided [RCV002016590]	uncertain significance	7	99394114	99394114	Human		name
151851546	CV1378165	single nucleotide variant	NM_005720.4(ARPC1B):c.1112T>G (p.Ile371Ser)	Inborn genetic diseases [RCV003161208]\|not provided [RCV002016653]	uncertain significance	7	99394482	99394482	Human	1	name
151799873	CV1417523	single nucleotide variant	NM_005720.4(ARPC1B):c.1073A>G (p.Asp358Gly)	not provided [RCV002047883]	uncertain significance	7	99394112	99394112	Human		name
151806530	CV1427533	single nucleotide variant	NM_005720.4(ARPC1B):c.1042A>G (p.Thr348Ala)	not provided [RCV001899551]	uncertain significance	7	99394081	99394081	Human		name
151797594	CV1439501	single nucleotide variant	NM_005720.4(ARPC1B):c.1079A>T (p.Lys360Met)	Inborn genetic diseases [RCV004656835]\|not provided [RCV002011271]	uncertain significance	7	99394118	99394118	Human	1	name
151828483	CV1468537	single nucleotide variant	NM_005720.4(ARPC1B):c.1109A>G (p.Lys370Arg)	Inborn genetic diseases [RCV002579665]\|not provided [RCV002030568]	uncertain significance	7	99394479	99394479	Human	1	name
152145935	CV1649452	single nucleotide variant	NM_005720.4(ARPC1B):c.1091C>T (p.Ser364Leu)	ARPC1B-related disorder [RCV003951205]\|Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV002121038]\|not provided [RCV002121039]	likely benign\|uncertain significance	7	99394461	99394461	Human	1	name , trait , alternate_id
155972694	CV1974730	single nucleotide variant	NM_005720.4(ARPC1B):c.1028C>T (p.Ser343Leu)	not provided [RCV002617253]	uncertain significance	7	99394067	99394067	Human		name
156335753	CV2168383	single nucleotide variant	NM_005720.4(ARPC1B):c.1058G>C (p.Gly353Ala)	not provided [RCV003030014]	uncertain significance	7	99394097	99394097	Human		name
329360414	CV2442785	single nucleotide variant	NM_005720.4(ARPC1B):c.1008C>A (p.Ser336Arg)	Inborn genetic diseases [RCV003179882]	uncertain significance	7	99394047	99394047	Human	1	name
405269355	CV3187302	single nucleotide variant	NM_005720.4(ARPC1B):c.1110G>C (p.Lys370Asn)	not provided [RCV003887386]	uncertain significance	7	99394480	99394480	Human		name
597848053	CV3746431	single nucleotide variant	NM_005720.4(ARPC1B):c.1061T>C (p.Met354Thr)	not provided [RCV005060249]	uncertain significance	7	99394100	99394100	Human		name
597862855	CV3796091	single nucleotide variant	NM_005720.4(ARPC1B):c.1016A>G (p.Lys339Arg)	Inborn genetic diseases [RCV005258018]\|not provided [RCV005136908]	uncertain significance	7	99394055	99394055	Human	1	name
598175220	CV3905292	single nucleotide variant	NM_005720.4(ARPC1B):c.1072G>A (p.Asp358Asn)	Inborn genetic diseases [RCV005263973]	uncertain significance	7	99394111	99394111	Human	1	name
13446289	CV438518	duplication	NM_005720.4(ARPC1B):c.268_269dup (p.Val91fs)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV000513526]	pathogenic	7	99388136	99388137	Human	1	name
151810123	CV1393335	deletion	NM_005720.4(ARPC1B):c.899_944del (p.Glu300fs)	ARPC1B-related disorder [RCV003418257]\|not provided [RCV001953731]	pathogenic\|likely pathogenic	7	99392786	99392831	Human	1	name , trait , alternate_id
151722684	CV1406685	deletion	NM_005720.4(ARPC1B):c.398_405del (p.Val133fs)	not provided [RCV002003891]	likely pathogenic	7	99389909	99389916	Human		name
151852164	CV1459503	microsatellite	NM_005720.4(ARPC1B):c.412AAG[1] (p.Lys139del)	not provided [RCV002033321]	uncertain significance	7	99389924	99389926	Human		name
21071647	CV790768	deletion	NM_005720.4(ARPC1B):c.763_764del (p.Asp255fs)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV000987936]	pathogenic	7	99391232	99391233	Human	1	name
25327488	CV815920	deletion	NM_005720.4(ARPC1B):c.739_743del (p.Leu247fs)	Combined immunodeficiency [RCV001027546]\|Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001251027]\|not provided [RCV003768923]	pathogenic	7	99391209	99391213	Human	3	name
38598182	CV963061	deletion	NM_005720.4(ARPC1B):c.624_625del (p.Cys209fs)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001251023]	pathogenic	7	99391015	99391016	Human	1	name
25327485	CV815919	insertion	NM_005720.4(ARPC1B):c.490_491insCC (p.Phe164fs)	Inherited Immunodeficiency Diseases [RCV001027544]	pathogenic	7	99390002	99390003	Human	1	name
405132813	CV2959269	deletion	NM_005720.4(ARPC1B):c.258del (p.Thr85_Trp86insTer)	not provided [RCV003668530]	pathogenic	7	99388126	99388126	Human		name
156328176	CV2050439	indel	NM_005720.4(ARPC1B):c.988_989delinsCC (p.Ser330Pro)	not provided [RCV002810519]	uncertain significance	7	99392875	99392876	Human		name
38598180	CV963060	indel	NM_005720.4(ARPC1B):c.491_495delinsCCTGCCC (p.Phe164fs)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001251022]	pathogenic	7	99390003	99390007	Human		name
156065875	CV2065569	deletion	NM_005720.4(ARPC1B):c.242_247del (p.Leu81_Gly83delinsArg)	not provided [RCV002846921]	uncertain significance	7	99388111	99388116	Human		name
156082337	CV2023628	duplication	NM_005720.4(ARPC1B):c.947_952dup (p.Ala317_Gly318insAlaAla)	not provided [RCV002760667]	uncertain significance	7	99392830	99392831	Human		name

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