Scrib Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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314 records found for search term Scrib

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150447443	CV1253405	single nucleotide variant	NM_182706.5(SCRIB):c.504-9C>T	not provided [RCV001667333]	benign	8	143813383	143813383	Human		name
404993360	CV2850965	single nucleotide variant	NM_182706.5(SCRIB):c.504-3C>T	not provided [RCV003491452]	uncertain significance	8	143813377	143813377	Human		name
405275352	CV3204791	single nucleotide variant	NM_182706.5(SCRIB):c.907-4C>T	SCRIB-related disorder [RCV003952168]	likely benign	8	143811349	143811349	Human		name , trait , alternate_id
405255894	CV3208357	single nucleotide variant	NM_182706.5(SCRIB):c.907-4C>G	SCRIB-related disorder [RCV003939466]	likely benign	8	143811349	143811349	Human		name , trait , alternate_id
405285375	CV3212425	single nucleotide variant	NM_182706.5(SCRIB):c.643-4G>A	SCRIB-related disorder [RCV003959029]	likely benign	8	143812965	143812965	Human		name , trait , alternate_id
401930757	CV2828604	single nucleotide variant	NM_182706.5(SCRIB):c.4178-7C>G	not provided [RCV003440731]	likely benign	8	143792642	143792642	Human		name
405284834	CV3190889	single nucleotide variant	NM_182706.5(SCRIB):c.4018-6C>T	SCRIB-related disorder [RCV003909453]	likely benign	8	143792873	143792873	Human		name , trait , alternate_id
405259888	CV3195295	duplication	NM_182706.5(SCRIB):c.3910-3dup	SCRIB-related disorder [RCV003894489]	likely benign	8	143793085	143793086	Human		name , trait , alternate_id
405279304	CV3206865	single nucleotide variant	NM_182706.5(SCRIB):c.4514+8C>T	SCRIB-related disorder [RCV003919427]	likely benign	8	143792212	143792212	Human		name , trait , alternate_id
405285537	CV3212571	single nucleotide variant	NM_182706.5(SCRIB):c.3603+6C>T	SCRIB-related disorder [RCV003959143]	likely benign	8	143803377	143803377	Human		name , trait , alternate_id
405285512	CV3212604	single nucleotide variant	NM_182706.5(SCRIB):c.3714+7G>A	SCRIB-related disorder [RCV003959169]	likely benign	8	143795413	143795413	Human		name , trait , alternate_id
405262230	CV3212889	single nucleotide variant	NM_182706.5(SCRIB):c.4515-4G>A	SCRIB-related disorder [RCV003944758]	likely benign	8	143792137	143792137	Human		name , trait , alternate_id
15135089	CV744395	deletion	NM_182706.5(SCRIB):c.4770+8del	not provided [RCV000898397]	likely benign	8	143791658	143791658	Human		name
15194926	CV775296	single nucleotide variant	NM_182706.5(SCRIB):c.4018-8C>G	not provided [RCV000933786]	likely benign	8	143792875	143792875	Human		name
15194928	CV775299	single nucleotide variant	NM_182706.5(SCRIB):c.1699-6G>A	not provided [RCV000933787]	likely benign	8	143809031	143809031	Human		name
15126413	CV787451	single nucleotide variant	NM_182706.5(SCRIB):c.643-10C>T	not provided [RCV000980366]	likely benign	8	143812971	143812971	Human		name
405272551	CV3221851	single nucleotide variant	NM_182706.5(SCRIB):c.2115+10A>G	SCRIB-related disorder [RCV003972186]	likely benign	8	143808599	143808599	Human		name , trait , alternate_id
408373797	CV3512363	single nucleotide variant	NM_182706.5(SCRIB):c.2179-10C>T	SCRIB-related disorder [RCV004745686]	likely benign	8	143807023	143807023	Human		name , trait , alternate_id
15122385	CV779485	single nucleotide variant	NM_182706.5(SCRIB):c.3120+10C>G	SCRIB-related disorder [RCV003935965]\|not provided [RCV000963065]	benign\|likely benign	8	143804036	143804036	Human		name , trait , alternate_id
405283606	CV3191751	microsatellite	NM_182706.5(SCRIB):c.3715-19TGCTC[4]	SCRIB-related disorder [RCV003921851]	likely benign	8	143795337	143795338	Human		name , trait , alternate_id
15164484	CV700441	variation	NM_182706.5(SCRIB):c.846= (p.Thr282=)	not provided [RCV000948353]	likely benign	8	143812326	143812326	Human		name
156193115	CV2255449	single nucleotide variant	NM_182706.5(SCRIB):c.13A>C (p.Ile5Leu)	not specified [RCV004117803]	uncertain significance	8	143815360	143815360	Human		name
405290253	CV3214191	single nucleotide variant	NM_182706.5(SCRIB):c.228C>T (p.Pro76=)	SCRIB-related disorder [RCV003927023]	likely benign	8	143814050	143814050	Human		name , trait , alternate_id
405759439	CV3314024	single nucleotide variant	NM_182706.5(SCRIB):c.13A>G (p.Ile5Val)	not specified [RCV004455039]	uncertain significance	8	143815360	143815360	Human		name
15164480	CV700439	variation	NM_182706.5(SCRIB):c.2190= (p.Thr730=)	not provided [RCV000948352]	likely benign	8	143807002	143807002	Human		name
156310389	CV2260035	single nucleotide variant	NM_182706.5(SCRIB):c.90G>T (p.Glu30Asp)	not specified [RCV004119048]	uncertain significance	8	143815283	143815283	Human		name
329360237	CV2458636	single nucleotide variant	NM_182706.5(SCRIB):c.32A>G (p.Asn11Ser)	not specified [RCV004268309]	uncertain significance	8	143815341	143815341	Human		name
401930762	CV2828610	single nucleotide variant	NM_182706.5(SCRIB):c.717C>T (p.Leu239=)	EBV-positive nodal T- and NK-cell lymphoma [RCV004560169]\|SCRIB-related disorder [RCV003929183]\|not provided [RCV003440736]	likely pathogenic\|likely benign	8	143812887	143812887	Human		name , trait , alternate_id
405275635	CV3196371	single nucleotide variant	NM_182706.5(SCRIB):c.837C>T (p.Cys279=)	SCRIB-related disorder [RCV003974216]	likely benign	8	143812335	143812335	Human		name , trait , alternate_id
405284646	CV3196970	single nucleotide variant	NM_182706.5(SCRIB):c.474C>T (p.Leu158=)	SCRIB-related disorder [RCV003979812]	benign	8	143813499	143813499	Human		name , trait , alternate_id
405759658	CV3314060	single nucleotide variant	NM_182706.5(SCRIB):c.91A>G (p.Ile31Val)	not specified [RCV004455075]	uncertain significance	8	143815282	143815282	Human		name
15164475	CV700438	variation	NM_182706.5(SCRIB):c.3576= (p.Phe1192=)	not provided [RCV000948351]	likely benign	8	143803410	143803410	Human		name
15182776	CV722913	single nucleotide variant	NM_182706.5(SCRIB):c.760C>T (p.Leu254=)	not provided [RCV000886072]	benign	8	143812844	143812844	Human		name
156234302	CV2271099	single nucleotide variant	NM_182706.5(SCRIB):c.283C>T (p.Pro95Ser)	not specified [RCV004134487]	uncertain significance	8	143813891	143813891	Human		name
156078823	CV2318798	single nucleotide variant	NM_182706.5(SCRIB):c.169C>T (p.Arg57Trp)	not specified [RCV004175713]	uncertain significance	8	143814109	143814109	Human		name
401924204	CV2828608	single nucleotide variant	NM_182706.5(SCRIB):c.2898C>T (p.Thr966=)	not provided [RCV003435626]	likely benign	8	143804679	143804679	Human		name
405286629	CV3192258	single nucleotide variant	NM_182706.5(SCRIB):c.1263A>G (p.Pro421=)	SCRIB-related disorder [RCV003924158]	likely benign	8	143810916	143810916	Human		name , trait , alternate_id
405286285	CV3192709	single nucleotide variant	NM_182706.5(SCRIB):c.2536C>T (p.Leu846=)	SCRIB-related disorder [RCV003981466]	likely benign	8	143805246	143805246	Human		name , trait , alternate_id
405290810	CV3197167	single nucleotide variant	NM_182706.5(SCRIB):c.2103G>A (p.Ala701=)	SCRIB-related disorder [RCV003984729]	likely benign	8	143808621	143808621	Human		name , trait , alternate_id
405277024	CV3198745	single nucleotide variant	NM_182706.5(SCRIB):c.2667T>C (p.Asp889=)	SCRIB-related disorder [RCV003904069]	likely benign	8	143805115	143805115	Human		name , trait , alternate_id
405260382	CV3204041	single nucleotide variant	NM_182706.5(SCRIB):c.1200G>A (p.Thr400=)	SCRIB-related disorder [RCV003943919]	likely benign	8	143810979	143810979	Human		name , trait , alternate_id
405275240	CV3204669	single nucleotide variant	NM_182706.5(SCRIB):c.2955G>A (p.Pro985=)	SCRIB-related disorder [RCV003952067]	likely benign	8	143804622	143804622	Human		name , trait , alternate_id
405274288	CV3211696	single nucleotide variant	NM_182706.5(SCRIB):c.1128G>A (p.Ala376=)	SCRIB-related disorder [RCV003951501]	likely benign	8	143811051	143811051	Human		name , trait , alternate_id
405290251	CV3214190	single nucleotide variant	NM_182706.5(SCRIB):c.2070G>A (p.Glu690=)	SCRIB-related disorder [RCV003927022]	likely benign	8	143808654	143808654	Human		name , trait , alternate_id
405258711	CV3215089	single nucleotide variant	NM_182706.5(SCRIB):c.2229G>A (p.Ala743=)	SCRIB-related disorder [RCV003942151]\|not specified [RCV005274021]	likely benign	8	143806963	143806963	Human		name , trait , alternate_id
405279358	CV3217481	single nucleotide variant	NM_182706.5(SCRIB):c.1017C>T (p.Val339=)	SCRIB-related disorder [RCV003976885]	likely benign	8	143811235	143811235	Human		name , trait , alternate_id
405278478	CV3220254	single nucleotide variant	NM_182706.5(SCRIB):c.1512G>A (p.Ser504=)	SCRIB-related disorder [RCV003976510]	benign	8	143810497	143810497	Human		name , trait , alternate_id
405278629	CV3220282	single nucleotide variant	NM_182706.5(SCRIB):c.1410A>G (p.Leu470=)	SCRIB-related disorder [RCV003976529]	benign	8	143810599	143810599	Human		name , trait , alternate_id
405759457	CV3314027	single nucleotide variant	NM_182706.5(SCRIB):c.211A>C (p.Ile71Leu)	not specified [RCV004455042]	uncertain significance	8	143814067	143814067	Human		name
405759462	CV3314028	single nucleotide variant	NM_182706.5(SCRIB):c.217C>T (p.Arg73Trp)	not specified [RCV004455043]	uncertain significance	8	143814061	143814061	Human		name
407461804	CV3480215	single nucleotide variant	NM_182706.5(SCRIB):c.218G>A (p.Arg73Gln)	not specified [RCV004658846]	uncertain significance	8	143814060	143814060	Human		name
598235538	CV3910574	single nucleotide variant	NM_182706.5(SCRIB):c.265G>A (p.Val89Met)	not specified [RCV005275262]	uncertain significance	8	143814013	143814013	Human		name
15158803	CV700440	single nucleotide variant	NM_182706.5(SCRIB):c.1713C>T (p.Phe571=)	not provided [RCV000947144]	benign	8	143809011	143809011	Human		name
15180217	CV711368	single nucleotide variant	NM_182706.5(SCRIB):c.1476G>T (p.Arg492=)	SCRIB-related disorder [RCV003918544]\|not provided [RCV000974097]	benign	8	143810533	143810533	Human		name , trait , alternate_id
15200974	CV722912	single nucleotide variant	NM_182706.5(SCRIB):c.1941T>C (p.Asn647=)	not provided [RCV000891061]	benign\|likely benign	8	143808783	143808783	Human		name
15198712	CV750956	single nucleotide variant	NM_182706.5(SCRIB):c.2568C>T (p.Pro856=)	not provided [RCV000912338]	likely benign	8	143805214	143805214	Human		name
15101712	CV750957	single nucleotide variant	NM_182706.5(SCRIB):c.2289G>A (p.Val763=)	SCRIB-related disorder [RCV003913056]\|not provided [RCV000914835]	benign	8	143806464	143806464	Human		name , trait , alternate_id
150547648	CV1292114	single nucleotide variant	NM_182706.5(SCRIB):c.766C>T (p.Arg256Trp)	not specified [RCV001733780]	uncertain significance	8	143812838	143812838	Human		name
156081686	CV2249077	single nucleotide variant	NM_182706.5(SCRIB):c.686A>G (p.Glu229Gly)	not specified [RCV004118141]	uncertain significance	8	143812918	143812918	Human		name
155995878	CV2250396	single nucleotide variant	NM_182706.5(SCRIB):c.770G>C (p.Arg257Thr)	not specified [RCV004127278]	uncertain significance	8	143812834	143812834	Human		name
156101119	CV2260310	single nucleotide variant	NM_182706.5(SCRIB):c.568C>G (p.Pro190Ala)	not specified [RCV004129403]	uncertain significance	8	143813104	143813104	Human		name
156199175	CV2293769	single nucleotide variant	NM_182706.5(SCRIB):c.760C>G (p.Leu254Val)	not specified [RCV004155051]	uncertain significance	8	143812844	143812844	Human		name
155955990	CV2303975	single nucleotide variant	NM_182706.5(SCRIB):c.382C>T (p.Arg128Cys)	not specified [RCV004168244]	uncertain significance	8	143813701	143813701	Human		name
156205264	CV2311329	single nucleotide variant	NM_182706.5(SCRIB):c.920C>T (p.Ser307Phe)	not specified [RCV004166399]	uncertain significance	8	143811332	143811332	Human		name
156165416	CV2319862	single nucleotide variant	NM_182706.5(SCRIB):c.724C>G (p.Leu242Val)	not specified [RCV004167745]	uncertain significance	8	143812880	143812880	Human		name
156058968	CV2322975	single nucleotide variant	NM_182706.5(SCRIB):c.464C>T (p.Thr155Ile)	not specified [RCV004185416]	uncertain significance	8	143813509	143813509	Human		name
156285720	CV2360832	single nucleotide variant	NM_182706.5(SCRIB):c.439G>A (p.Val147Met)	not specified [RCV004213607]	uncertain significance	8	143813644	143813644	Human		name
155928496	CV2388888	single nucleotide variant	NM_182706.5(SCRIB):c.661C>T (p.Arg221Cys)	not specified [RCV004241894]	uncertain significance	8	143812943	143812943	Human		name
329364696	CV2443767	single nucleotide variant	NM_182706.5(SCRIB):c.973G>A (p.Glu325Lys)	not specified [RCV004256063]	uncertain significance	8	143811279	143811279	Human		name
401771849	CV2711940	single nucleotide variant	NM_182706.5(SCRIB):c.824A>G (p.Gln275Arg)	not specified [RCV004309557]	uncertain significance	8	143812348	143812348	Human		name
401742008	CV2721888	single nucleotide variant	NM_182706.5(SCRIB):c.818T>C (p.Val273Ala)	not specified [RCV004326395]	uncertain significance	8	143812354	143812354	Human		name
401895118	CV2792705	single nucleotide variant	NM_182706.5(SCRIB):c.722G>A (p.Gly241Glu)	not specified [RCV004365480]	uncertain significance	8	143812882	143812882	Human		name
401925904	CV2796345	deletion	NM_182706.5(SCRIB):c.2386del (p.Ala796fs)	SCRIB-related disorder [RCV003405791]	uncertain significance	8	143805396	143805396	Human		name , trait , alternate_id
401911288	CV2800266	single nucleotide variant	NM_182706.5(SCRIB):c.692G>A (p.Arg231Gln)	SCRIB-related disorder [RCV003399505]	uncertain significance	8	143812912	143812912	Human		name , trait , alternate_id
401930755	CV2828602	single nucleotide variant	NM_182706.5(SCRIB):c.4464C>T (p.Ala1488=)	not provided [RCV003440729]	likely benign	8	143792270	143792270	Human		name
401930756	CV2828603	single nucleotide variant	NM_182706.5(SCRIB):c.4443C>T (p.Pro1481=)	not provided [RCV003440730]	likely benign	8	143792291	143792291	Human		name
401930759	CV2828606	single nucleotide variant	NM_182706.5(SCRIB):c.3828C>T (p.Ser1276=)	SCRIB-related disorder [RCV003939031]\|not provided [RCV003440733]	likely benign	8	143795056	143795056	Human		name , trait , alternate_id
401930760	CV2828607	single nucleotide variant	NM_182706.5(SCRIB):c.3129G>A (p.Pro1043=)	not provided [RCV003440734]	likely benign	8	143803932	143803932	Human		name
404993229	CV2850964	single nucleotide variant	NM_182706.5(SCRIB):c.829C>T (p.Arg277Trp)	not provided [RCV003491451]	uncertain significance	8	143812343	143812343	Human		name
405273310	CV3191898	single nucleotide variant	NM_182706.5(SCRIB):c.4212G>A (p.Leu1404=)	SCRIB-related disorder [RCV003914681]	benign	8	143792601	143792601	Human		name , trait , alternate_id
405280613	CV3195640	single nucleotide variant	NM_182706.5(SCRIB):c.3555C>T (p.Thr1185=)	SCRIB-related disorder [RCV003906877]	benign	8	143803431	143803431	Human		name , trait , alternate_id
405275006	CV3199954	single nucleotide variant	NM_182706.5(SCRIB):c.3921G>A (p.Pro1307=)	SCRIB-related disorder [RCV003973974]	benign	8	143793072	143793072	Human		name , trait , alternate_id
405262448	CV3212956	single nucleotide variant	NM_182706.5(SCRIB):c.4428G>A (p.Pro1476=)	SCRIB-related disorder [RCV003944770]	likely benign	8	143792306	143792306	Human		name , trait , alternate_id
405281643	CV3216125	single nucleotide variant	NM_182706.5(SCRIB):c.3066C>T (p.Ser1022=)	SCRIB-related disorder [RCV003956664]	likely benign	8	143804100	143804100	Human		name , trait , alternate_id
405278259	CV3216535	single nucleotide variant	NM_182706.5(SCRIB):c.3426G>A (p.Thr1142=)	SCRIB-related disorder [RCV003954453]	likely benign	8	143803560	143803560	Human		name , trait , alternate_id
405287385	CV3217722	single nucleotide variant	NM_182706.5(SCRIB):c.4098C>T (p.Arg1366=)	SCRIB-related disorder [RCV003981845]	benign	8	143792787	143792787	Human		name , trait , alternate_id
405759527	CV3314039	single nucleotide variant	NM_182706.5(SCRIB):c.325A>G (p.Ile109Val)	not specified [RCV004455054]	uncertain significance	8	143813849	143813849	Human		name
405759652	CV3314059	single nucleotide variant	NM_182706.5(SCRIB):c.875C>T (p.Ser292Phe)	not specified [RCV004455074]	uncertain significance	8	143812297	143812297	Human		name
405759664	CV3314061	single nucleotide variant	NM_182706.5(SCRIB):c.938A>C (p.Lys313Thr)	not specified [RCV004455076]	uncertain significance	8	143811314	143811314	Human		name
405759670	CV3314062	single nucleotide variant	NM_182706.5(SCRIB):c.962G>A (p.Arg321Gln)	not specified [RCV004455077]	uncertain significance	8	143811290	143811290	Human		name
407491482	CV3480229	single nucleotide variant	NM_182706.5(SCRIB):c.983C>T (p.Pro328Leu)	not specified [RCV004666904]	uncertain significance	8	143811269	143811269	Human		name
407461838	CV3480232	single nucleotide variant	NM_182706.5(SCRIB):c.700G>A (p.Glu234Lys)	not specified [RCV004658858]	uncertain significance	8	143812904	143812904	Human		name
408378896	CV3500979	single nucleotide variant	NM_182706.5(SCRIB):c.3816C>T (p.Ala1272=)	not provided [RCV004722629]	likely benign	8	143795068	143795068	Human		name
408373947	CV3513663	single nucleotide variant	NM_182706.5(SCRIB):c.3591C>T (p.Asp1197=)	SCRIB-related disorder [RCV004745874]	likely benign	8	143803395	143803395	Human		name , trait , alternate_id
597692766	CV3598336	single nucleotide variant	NM_182706.5(SCRIB):c.455A>G (p.Asn152Ser)	not specified [RCV004859042]	uncertain significance	8	143813518	143813518	Human		name
597692789	CV3598338	single nucleotide variant	NM_182706.5(SCRIB):c.916C>G (p.Arg306Gly)	not specified [RCV004859044]	uncertain significance	8	143811336	143811336	Human		name
597692899	CV3598348	single nucleotide variant	NM_182706.5(SCRIB):c.349C>G (p.Leu117Val)	not specified [RCV004859054]	uncertain significance	8	143813825	143813825	Human		name
597692953	CV3598355	single nucleotide variant	NM_182706.5(SCRIB):c.934A>T (p.Thr312Ser)	not specified [RCV004859060]	uncertain significance	8	143811318	143811318	Human		name
598235466	CV3910563	single nucleotide variant	NM_182706.5(SCRIB):c.977C>T (p.Ala326Val)	not specified [RCV005275251]	likely benign	8	143811275	143811275	Human		name
598235706	CV3910599	single nucleotide variant	NM_182706.5(SCRIB):c.394C>T (p.His132Tyr)	not specified [RCV005275287]	uncertain significance	8	143813689	143813689	Human		name
15134228	CV711366	single nucleotide variant	NM_182706.5(SCRIB):c.4371G>A (p.Pro1457=)	not provided [RCV000965090]	likely benign	8	143792363	143792363	Human		name
15151446	CV711367	single nucleotide variant	NM_182706.5(SCRIB):c.4029T>G (p.Pro1343=)	not provided [RCV000968140]	benign	8	143792856	143792856	Human		name
15143603	CV750955	single nucleotide variant	NM_182706.5(SCRIB):c.4707A>G (p.Gly1569=)	not provided [RCV000922219]	likely benign	8	143791729	143791729	Human		name
127274475	CV1065765	single nucleotide variant	NM_182706.5(SCRIB):c.1177C>T (p.Gln393Ter)	Neural tube defect [RCV001391253]	likely pathogenic	8	143811002	143811002	Human	2	name
156136396	CV2196170	single nucleotide variant	NM_182706.5(SCRIB):c.1070C>T (p.Thr357Met)	not specified [RCV004073529]	uncertain significance	8	143811182	143811182	Human		name
156168482	CV2197691	single nucleotide variant	NM_182706.5(SCRIB):c.2584G>A (p.Val862Met)	not specified [RCV004074898]	uncertain significance	8	143805198	143805198	Human		name
155921670	CV2207274	single nucleotide variant	NM_182706.5(SCRIB):c.2752A>G (p.Ile918Val)	not specified [RCV004087992]	uncertain significance	8	143804825	143804825	Human		name
156109903	CV2211366	single nucleotide variant	NM_182706.5(SCRIB):c.2558G>T (p.Ser853Ile)	not specified [RCV004090285]	uncertain significance	8	143805224	143805224	Human		name
156113058	CV2212655	single nucleotide variant	NM_182706.5(SCRIB):c.1222G>A (p.Glu408Lys)	not specified [RCV004085175]	uncertain significance	8	143810957	143810957	Human		name
156380988	CV2219082	single nucleotide variant	NM_182706.5(SCRIB):c.1520C>T (p.Pro507Leu)	not specified [RCV004087245]	uncertain significance	8	143810489	143810489	Human		name
156295606	CV2239741	single nucleotide variant	NM_182706.5(SCRIB):c.1681G>A (p.Glu561Lys)	not specified [RCV004108275]	uncertain significance	8	143809568	143809568	Human		name
156075316	CV2248235	single nucleotide variant	NM_182706.5(SCRIB):c.1987G>A (p.Glu663Lys)	not specified [RCV004117619]	uncertain significance	8	143808737	143808737	Human		name
156282871	CV2252439	single nucleotide variant	NM_182706.5(SCRIB):c.1867G>A (p.Glu623Lys)	not specified [RCV004116276]	uncertain significance	8	143808857	143808857	Human		name
156183638	CV2255359	single nucleotide variant	NM_182706.5(SCRIB):c.2639A>G (p.Lys880Arg)	not specified [RCV004117729]	uncertain significance	8	143805143	143805143	Human		name
156303939	CV2255483	single nucleotide variant	NM_182706.5(SCRIB):c.2851G>T (p.Gly951Trp)	not specified [RCV004118135]	uncertain significance	8	143804726	143804726	Human		name
156061681	CV2263153	single nucleotide variant	NM_182706.5(SCRIB):c.2284C>T (p.Arg762Trp)	not specified [RCV004131387]	uncertain significance	8	143806469	143806469	Human		name
156257863	CV2264910	single nucleotide variant	NM_182706.5(SCRIB):c.1429C>T (p.His477Tyr)	not specified [RCV004134656]	uncertain significance	8	143810580	143810580	Human		name
156368754	CV2267073	single nucleotide variant	NM_182706.5(SCRIB):c.1372G>A (p.Glu458Lys)	not specified [RCV004131702]	uncertain significance	8	143810718	143810718	Human		name
156260504	CV2274191	single nucleotide variant	NM_182706.5(SCRIB):c.2954C>T (p.Pro985Leu)	not specified [RCV004134823]	likely benign	8	143804623	143804623	Human		name
156037185	CV2278815	single nucleotide variant	NM_182706.5(SCRIB):c.1781C>T (p.Thr594Ile)	not specified [RCV004145529]	uncertain significance	8	143808943	143808943	Human		name
155966238	CV2284266	single nucleotide variant	NM_182706.5(SCRIB):c.1175C>T (p.Ala392Val)	not specified [RCV004146624]	uncertain significance	8	143811004	143811004	Human		name
156325000	CV2335138	single nucleotide variant	NM_182706.5(SCRIB):c.1538G>A (p.Arg513Gln)	not specified [RCV004184669]	uncertain significance	8	143809711	143809711	Human		name
155916057	CV2336075	single nucleotide variant	NM_182706.5(SCRIB):c.2549C>T (p.Pro850Leu)	not specified [RCV004189675]	uncertain significance	8	143805233	143805233	Human		name
156120050	CV2354136	single nucleotide variant	NM_182706.5(SCRIB):c.1339G>A (p.Val447Ile)	not specified [RCV004206573]	uncertain significance	8	143810751	143810751	Human		name
156149328	CV2359485	single nucleotide variant	NM_182706.5(SCRIB):c.2954C>G (p.Pro985Arg)	not specified [RCV004214797]	uncertain significance	8	143804623	143804623	Human		name
156343064	CV2364057	single nucleotide variant	NM_182706.5(SCRIB):c.2533C>T (p.Arg845Cys)	not specified [RCV004221441]	uncertain significance	8	143805249	143805249	Human		name
156267159	CV2371750	single nucleotide variant	NM_182706.5(SCRIB):c.1966C>T (p.Arg656Trp)	not specified [RCV004219417]	uncertain significance	8	143808758	143808758	Human		name
156266521	CV2372484	single nucleotide variant	NM_182706.5(SCRIB):c.2080A>G (p.Lys694Glu)	not specified [RCV004219282]	likely benign	8	143808644	143808644	Human		name
155955873	CV2387180	single nucleotide variant	NM_182706.5(SCRIB):c.2515C>T (p.Arg839Trp)	not specified [RCV004238285]	uncertain significance	8	143805267	143805267	Human		name
155908006	CV2387190	single nucleotide variant	NM_182706.5(SCRIB):c.2104C>T (p.Pro702Ser)	not specified [RCV004238294]	uncertain significance	8	143808620	143808620	Human		name
329367088	CV2430887	single nucleotide variant	NM_182706.5(SCRIB):c.1937A>T (p.His646Leu)	not specified [RCV004248085]	uncertain significance	8	143808787	143808787	Human		name
329400260	CV2437519	single nucleotide variant	NM_182706.5(SCRIB):c.1214G>T (p.Arg405Leu)	not specified [RCV004258804]	uncertain significance	8	143810965	143810965	Human		name
329397317	CV2460141	single nucleotide variant	NM_182706.5(SCRIB):c.1616C>T (p.Pro539Leu)	not specified [RCV004273246]	uncertain significance	8	143809633	143809633	Human		name
329389279	CV2467239	single nucleotide variant	NM_182706.5(SCRIB):c.2989G>C (p.Glu997Gln)	not specified [RCV004285049]	uncertain significance	8	143804588	143804588	Human		name
329398551	CV2471603	single nucleotide variant	NM_182706.5(SCRIB):c.2092G>T (p.Val698Leu)	not specified [RCV004286900]	uncertain significance	8	143808632	143808632	Human		name
329363501	CV2471683	single nucleotide variant	NM_182706.5(SCRIB):c.2809G>A (p.Ala937Thr)	not specified [RCV004286968]	uncertain significance	8	143804768	143804768	Human		name
401720352	CV2676480	single nucleotide variant	NM_182706.5(SCRIB):c.2680G>A (p.Val894Ile)	not specified [RCV004286494]	likely benign	8	143805005	143805005	Human		name
401744677	CV2681101	single nucleotide variant	NM_182706.5(SCRIB):c.2000G>A (p.Gly667Asp)	not specified [RCV004296159]	uncertain significance	8	143808724	143808724	Human		name
401756181	CV2686323	single nucleotide variant	NM_182706.5(SCRIB):c.1358C>T (p.Ala453Val)	not specified [RCV004297401]	uncertain significance	8	143810732	143810732	Human		name
401725880	CV2687329	single nucleotide variant	NM_182706.5(SCRIB):c.2827G>A (p.Ala943Thr)	not specified [RCV004298260]	uncertain significance	8	143804750	143804750	Human		name
401777495	CV2718223	single nucleotide variant	NM_182706.5(SCRIB):c.2073G>T (p.Glu691Asp)	not specified [RCV004316215]	uncertain significance	8	143808651	143808651	Human		name
401768789	CV2735430	single nucleotide variant	NM_182706.5(SCRIB):c.1525G>A (p.Glu509Lys)	not specified [RCV004330992]	uncertain significance	8	143810484	143810484	Human		name
401930761	CV2828609	single nucleotide variant	NM_182706.5(SCRIB):c.1487G>A (p.Cys496Tyr)	not provided [RCV003440735]	likely benign	8	143810522	143810522	Human		name
405268811	CV3199050	single nucleotide variant	NM_182706.5(SCRIB):c.1319C>T (p.Ala440Val)	SCRIB-related disorder [RCV003912155]	benign	8	143810771	143810771	Human		name , trait , alternate_id
405280367	CV3200700	single nucleotide variant	NM_182706.5(SCRIB):c.2938G>A (p.Gly980Arg)	SCRIB-related disorder [RCV003977325]	benign	8	143804639	143804639	Human		name , trait , alternate_id
405283353	CV3217112	single nucleotide variant	NM_182706.5(SCRIB):c.1276G>A (p.Asp426Asn)	SCRIB-related disorder [RCV003979230]	benign	8	143810814	143810814	Human		name , trait , alternate_id
405759408	CV3314019	single nucleotide variant	NM_182706.5(SCRIB):c.1036C>T (p.Arg346Cys)	not specified [RCV004455034]	uncertain significance	8	143811216	143811216	Human		name
405759413	CV3314020	single nucleotide variant	NM_182706.5(SCRIB):c.1037G>A (p.Arg346His)	not specified [RCV004455035]	uncertain significance	8	143811215	143811215	Human		name
405759420	CV3314021	single nucleotide variant	NM_182706.5(SCRIB):c.1054C>T (p.Pro352Ser)	not specified [RCV004455036]	uncertain significance	8	143811198	143811198	Human		name
405759426	CV3314022	single nucleotide variant	NM_182706.5(SCRIB):c.1204G>A (p.Asp402Asn)	not specified [RCV004455037]	uncertain significance	8	143810975	143810975	Human		name
405759432	CV3314023	single nucleotide variant	NM_182706.5(SCRIB):c.1315G>A (p.Asp439Asn)	not specified [RCV004455038]	uncertain significance	8	143810775	143810775	Human		name
405759444	CV3314025	single nucleotide variant	NM_182706.5(SCRIB):c.1472G>A (p.Arg491Gln)	not specified [RCV004455040]	uncertain significance	8	143810537	143810537	Human		name
405759450	CV3314026	single nucleotide variant	NM_182706.5(SCRIB):c.1852A>C (p.Lys618Gln)	not specified [RCV004455041]	uncertain significance	8	143808872	143808872	Human		name
405759466	CV3314029	single nucleotide variant	NM_182706.5(SCRIB):c.2278A>G (p.Ile760Val)	not specified [RCV004455044]	uncertain significance	8	143806475	143806475	Human		name
405759472	CV3314030	single nucleotide variant	NM_182706.5(SCRIB):c.2311C>T (p.Arg771Trp)	not specified [RCV004455045]	uncertain significance	8	143806442	143806442	Human		name
405759478	CV3314031	single nucleotide variant	NM_182706.5(SCRIB):c.2324G>A (p.Arg775His)	not specified [RCV004455046]	uncertain significance	8	143806429	143806429	Human		name
405759485	CV3314032	single nucleotide variant	NM_182706.5(SCRIB):c.2479C>T (p.Pro827Ser)	not specified [RCV004455047]	uncertain significance	8	143805303	143805303	Human		name
405759490	CV3314033	single nucleotide variant	NM_182706.5(SCRIB):c.2543T>G (p.Leu848Arg)	not specified [RCV004455048]	uncertain significance	8	143805239	143805239	Human		name
405759496	CV3314034	single nucleotide variant	NM_182706.5(SCRIB):c.2669C>T (p.Ala890Val)	not specified [RCV004455049]	uncertain significance	8	143805113	143805113	Human		name
405759500	CV3314035	single nucleotide variant	NM_182706.5(SCRIB):c.2792C>T (p.Ala931Val)	not specified [RCV004455050]	uncertain significance	8	143804785	143804785	Human		name
405759506	CV3314036	single nucleotide variant	NM_182706.5(SCRIB):c.2860C>T (p.Leu954Phe)	not specified [RCV004455051]	uncertain significance	8	143804717	143804717	Human		name
407461795	CV3480210	single nucleotide variant	NM_182706.5(SCRIB):c.1418G>A (p.Arg473Gln)	not specified [RCV004658843]	uncertain significance	8	143810591	143810591	Human		name
407461799	CV3480211	single nucleotide variant	NM_182706.5(SCRIB):c.2028G>T (p.Glu676Asp)	not specified [RCV004658844]	uncertain significance	8	143808696	143808696	Human		name
407514578	CV3480212	single nucleotide variant	NM_182706.5(SCRIB):c.1609G>A (p.Glu537Lys)	not specified [RCV004674629]	uncertain significance	8	143809640	143809640	Human		name
407514581	CV3480213	single nucleotide variant	NM_182706.5(SCRIB):c.2819C>A (p.Pro940His)	not specified [RCV004674630]	uncertain significance	8	143804758	143804758	Human		name
407461801	CV3480214	single nucleotide variant	NM_182706.5(SCRIB):c.2105C>T (p.Pro702Leu)	not specified [RCV004658845]	uncertain significance	8	143808619	143808619	Human		name
407491468	CV3480217	single nucleotide variant	NM_182706.5(SCRIB):c.2312G>A (p.Arg771Gln)	not specified [RCV004666901]	uncertain significance	8	143806441	143806441	Human		name
407461807	CV3480218	single nucleotide variant	NM_182706.5(SCRIB):c.1014C>A (p.Ser338Arg)	not specified [RCV004658847]	uncertain significance	8	143811238	143811238	Human		name
407461810	CV3480219	single nucleotide variant	NM_182706.5(SCRIB):c.2900C>T (p.Ala967Val)	not specified [RCV004658848]	uncertain significance	8	143804677	143804677	Human		name
407461813	CV3480220	single nucleotide variant	NM_182706.5(SCRIB):c.2983G>C (p.Ala995Pro)	not specified [RCV004658849]	uncertain significance	8	143804594	143804594	Human		name
407491471	CV3480222	single nucleotide variant	NM_182706.5(SCRIB):c.1045G>A (p.Val349Ile)	not specified [RCV004666902]	uncertain significance	8	143811207	143811207	Human		name
407461824	CV3480226	single nucleotide variant	NM_182706.5(SCRIB):c.2248C>T (p.Pro750Ser)	not specified [RCV004658853]	uncertain significance	8	143806944	143806944	Human		name
407461835	CV3480231	single nucleotide variant	NM_182706.5(SCRIB):c.1387G>A (p.Ala463Thr)	not specified [RCV004658857]	uncertain significance	8	143810703	143810703	Human		name
407572747	CV3497238	single nucleotide variant	NM_182706.5(SCRIB):c.2678T>G (p.Phe893Cys)	not provided [RCV004699058]	uncertain significance	8	143805007	143805007	Human		name
597692675	CV3598326	single nucleotide variant	NM_182706.5(SCRIB):c.2740C>T (p.Arg914Cys)	not specified [RCV004859033]	uncertain significance	8	143804945	143804945	Human		name
597692724	CV3598332	single nucleotide variant	NM_182706.5(SCRIB):c.2026G>A (p.Glu676Lys)	not specified [RCV004859038]	uncertain significance	8	143808698	143808698	Human		name
597692735	CV3598333	single nucleotide variant	NM_182706.5(SCRIB):c.2066C>G (p.Thr689Ser)	not specified [RCV004859039]	uncertain significance	8	143808658	143808658	Human		name
597692755	CV3598335	single nucleotide variant	NM_182706.5(SCRIB):c.2741G>T (p.Arg914Leu)	not specified [RCV004859041]	uncertain significance	8	143804944	143804944	Human		name
597692799	CV3598339	single nucleotide variant	NM_182706.5(SCRIB):c.2383G>A (p.Glu795Lys)	not specified [RCV004859045]	uncertain significance	8	143805399	143805399	Human		name
597692810	CV3598340	single nucleotide variant	NM_182706.5(SCRIB):c.2714G>T (p.Arg905Leu)	not specified [RCV004859046]	uncertain significance	8	143804971	143804971	Human		name
597692831	CV3598342	single nucleotide variant	NM_182706.5(SCRIB):c.1817A>G (p.Asp606Gly)	not specified [RCV004859048]	uncertain significance	8	143808907	143808907	Human		name
597692843	CV3598343	single nucleotide variant	NM_182706.5(SCRIB):c.2077G>A (p.Asp693Asn)	not specified [RCV004859049]	uncertain significance	8	143808647	143808647	Human		name
597692868	CV3598345	single nucleotide variant	NM_182706.5(SCRIB):c.1213C>T (p.Arg405Trp)	not specified [RCV004859051]	uncertain significance	8	143810966	143810966	Human		name
597692926	CV3598352	single nucleotide variant	NM_182706.5(SCRIB):c.1895T>G (p.Met632Arg)	not specified [RCV004859057]	uncertain significance	8	143808829	143808829	Human		name
597692936	CV3598353	single nucleotide variant	NM_182706.5(SCRIB):c.1178A>G (p.Gln393Arg)	not specified [RCV004859058]	uncertain significance	8	143811001	143811001	Human		name
597692946	CV3598354	single nucleotide variant	NM_182706.5(SCRIB):c.2458G>C (p.Glu820Gln)	not specified [RCV004859059]	uncertain significance	8	143805324	143805324	Human		name
597692964	CV3598356	single nucleotide variant	NM_182706.5(SCRIB):c.2872C>T (p.Pro958Ser)	not specified [RCV004859061]	uncertain significance	8	143804705	143804705	Human		name
597692973	CV3598357	single nucleotide variant	NM_182706.5(SCRIB):c.1414C>T (p.Arg472Cys)	not specified [RCV004859062]	uncertain significance	8	143810595	143810595	Human		name
597693007	CV3598360	single nucleotide variant	NM_182706.5(SCRIB):c.1256A>G (p.Gln419Arg)	not specified [RCV004859065]	uncertain significance	8	143810923	143810923	Human		name
597693026	CV3598362	single nucleotide variant	NM_182706.5(SCRIB):c.2486G>A (p.Arg829Gln)	not specified [RCV004859067]	uncertain significance	8	143805296	143805296	Human		name
597693059	CV3598365	single nucleotide variant	NM_182706.5(SCRIB):c.1346A>G (p.Gln449Arg)	not specified [RCV004859070]	uncertain significance	8	143810744	143810744	Human		name
597693070	CV3598366	single nucleotide variant	NM_182706.5(SCRIB):c.2266G>A (p.Glu756Lys)	not specified [RCV004859071]	uncertain significance	8	143806926	143806926	Human		name
597693080	CV3598367	single nucleotide variant	NM_182706.5(SCRIB):c.1190G>A (p.Arg397Gln)	not specified [RCV004859072]	uncertain significance	8	143810989	143810989	Human		name
598235483	CV3910566	single nucleotide variant	NM_182706.5(SCRIB):c.2309C>T (p.Ala770Val)	not specified [RCV005275254]	uncertain significance	8	143806444	143806444	Human		name
598235490	CV3910567	single nucleotide variant	NM_182706.5(SCRIB):c.2935C>G (p.Pro979Ala)	not specified [RCV005275255]	uncertain significance	8	143804642	143804642	Human		name
598235497	CV3910568	single nucleotide variant	NM_182706.5(SCRIB):c.1219G>A (p.Gly407Ser)	not specified [RCV005275256]	uncertain significance	8	143810960	143810960	Human		name
598235510	CV3910570	single nucleotide variant	NM_182706.5(SCRIB):c.2984C>T (p.Ala995Val)	not specified [RCV005275258]	uncertain significance	8	143804593	143804593	Human		name
598235517	CV3910571	single nucleotide variant	NM_182706.5(SCRIB):c.2599C>T (p.Arg867Cys)	not specified [RCV005275259]	uncertain significance	8	143805183	143805183	Human		name
598235524	CV3910572	single nucleotide variant	NM_182706.5(SCRIB):c.2239G>A (p.Gly747Ser)	not specified [RCV005275260]	uncertain significance	8	143806953	143806953	Human		name
598235543	CV3910575	single nucleotide variant	NM_182706.5(SCRIB):c.2680G>C (p.Val894Leu)	not specified [RCV005275263]	uncertain significance	8	143805005	143805005	Human		name
598235552	CV3910576	single nucleotide variant	NM_182706.5(SCRIB):c.1918G>A (p.Val640Met)	not specified [RCV005275264]	uncertain significance	8	143808806	143808806	Human		name
598235626	CV3910587	single nucleotide variant	NM_182706.5(SCRIB):c.2419G>A (p.Val807Met)	not specified [RCV005275275]	uncertain significance	8	143805363	143805363	Human		name
598235633	CV3910588	single nucleotide variant	NM_182706.5(SCRIB):c.1772C>T (p.Ala591Val)	not specified [RCV005275276]	uncertain significance	8	143808952	143808952	Human		name
598235655	CV3910591	single nucleotide variant	NM_182706.5(SCRIB):c.2277C>A (p.Phe759Leu)	not specified [RCV005275279]	uncertain significance	8	143806476	143806476	Human		name
598235662	CV3910592	single nucleotide variant	NM_182706.5(SCRIB):c.1126G>A (p.Ala376Thr)	not specified [RCV005275280]	uncertain significance	8	143811053	143811053	Human		name
598235679	CV3910595	single nucleotide variant	NM_182706.5(SCRIB):c.2899G>A (p.Ala967Thr)	not specified [RCV005275283]	uncertain significance	8	143804678	143804678	Human		name
598235693	CV3910597	single nucleotide variant	NM_182706.5(SCRIB):c.1744A>G (p.Arg582Gly)	not specified [RCV005275285]	likely benign	8	143808980	143808980	Human		name
598235700	CV3910598	single nucleotide variant	NM_182706.5(SCRIB):c.2810C>T (p.Ala937Val)	not specified [RCV005275286]	uncertain significance	8	143804767	143804767	Human		name
598235712	CV3910600	single nucleotide variant	NM_182706.5(SCRIB):c.1970C>T (p.Ala657Val)	not specified [RCV005275288]	uncertain significance	8	143808754	143808754	Human		name
38596974	CV801838	single nucleotide variant	NM_182706.5(SCRIB):c.2882A>G (p.His961Arg)	Microcephaly [RCV001252724]	uncertain significance	8	143804695	143804695	Human	2	name
156262966	CV2201128	single nucleotide variant	NM_182706.5(SCRIB):c.3809C>G (p.Ala1270Gly)	not specified [RCV004077290]	uncertain significance	8	143795075	143795075	Human		name
156144767	CV2208788	single nucleotide variant	NM_182706.5(SCRIB):c.3374A>C (p.Asn1125Thr)	not specified [RCV004084971]	uncertain significance	8	143803687	143803687	Human		name
156119475	CV2228924	single nucleotide variant	NM_182706.5(SCRIB):c.3544G>A (p.Asp1182Asn)	not specified [RCV004098724]	uncertain significance	8	143803442	143803442	Human		name
156174319	CV2247662	single nucleotide variant	NM_182706.5(SCRIB):c.4715T>G (p.Phe1572Cys)	not specified [RCV004115078]	uncertain significance	8	143791721	143791721	Human		name
156315197	CV2250737	single nucleotide variant	NM_182706.5(SCRIB):c.4298C>T (p.Pro1433Leu)	not specified [RCV004129616]	uncertain significance	8	143792515	143792515	Human		name
155962865	CV2254474	single nucleotide variant	NM_182706.5(SCRIB):c.4111G>A (p.Glu1371Lys)	not specified [RCV004123844]	uncertain significance	8	143792774	143792774	Human		name
156253781	CV2264602	single nucleotide variant	NM_182706.5(SCRIB):c.3535A>G (p.Ser1179Gly)	not specified [RCV004132613]	likely benign	8	143803451	143803451	Human		name
156167619	CV2270498	single nucleotide variant	NM_182706.5(SCRIB):c.3398G>T (p.Gly1133Val)	not specified [RCV004137457]	uncertain significance	8	143803663	143803663	Human		name
156117666	CV2278889	single nucleotide variant	NM_182706.5(SCRIB):c.3119A>C (p.Lys1040Thr)	not specified [RCV004145591]	uncertain significance	8	143804047	143804047	Human		name
156036754	CV2303813	single nucleotide variant	NM_182706.5(SCRIB):c.3893C>A (p.Ser1298Tyr)	not specified [RCV004163652]	uncertain significance	8	143793916	143793916	Human		name
156290896	CV2306006	single nucleotide variant	NM_182706.5(SCRIB):c.3278C>T (p.Pro1093Leu)	not specified [RCV004160993]	uncertain significance	8	143803783	143803783	Human		name
156202865	CV2334791	single nucleotide variant	NM_182706.5(SCRIB):c.3064T>G (p.Ser1022Ala)	not specified [RCV004181907]	uncertain significance	8	143804102	143804102	Human		name
156279092	CV2338281	single nucleotide variant	NM_182706.5(SCRIB):c.3757G>C (p.Ala1253Pro)	not specified [RCV004186339]	uncertain significance	8	143795291	143795291	Human		name
155902009	CV2345912	single nucleotide variant	NM_182706.5(SCRIB):c.3769G>T (p.Ala1257Ser)	not specified [RCV004198951]	uncertain significance	8	143795279	143795279	Human		name
156010991	CV2362192	single nucleotide variant	NM_182706.5(SCRIB):c.3886C>T (p.Pro1296Ser)	not specified [RCV004209989]	uncertain significance	8	143793923	143793923	Human		name
156287137	CV2370459	single nucleotide variant	NM_182706.5(SCRIB):c.4760A>G (p.Tyr1587Cys)	not specified [RCV004215808]	uncertain significance	8	143791676	143791676	Human		name
156154146	CV2374904	single nucleotide variant	NM_182706.5(SCRIB):c.3947A>G (p.Asn1316Ser)	not specified [RCV004227926]	uncertain significance	8	143793046	143793046	Human		name
156111994	CV2387873	single nucleotide variant	NM_182706.5(SCRIB):c.4879G>A (p.Gly1627Ser)	not specified [RCV004236427]	uncertain significance	8	143791252	143791252	Human		name
156061889	CV2392052	single nucleotide variant	NM_182706.5(SCRIB):c.3382G>A (p.Asp1128Asn)	not specified [RCV004237948]	uncertain significance	8	143803679	143803679	Human		name
329356770	CV2431137	single nucleotide variant	NM_182706.5(SCRIB):c.4940G>A (p.Arg1647His)	not specified [RCV004250491]	uncertain significance	8	143791191	143791191	Human		name
329356223	CV2442524	single nucleotide variant	NM_182706.5(SCRIB):c.4922G>T (p.Arg1641Leu)	not specified [RCV004266756]	uncertain significance	8	143791209	143791209	Human		name
329353700	CV2443558	single nucleotide variant	NM_182706.5(SCRIB):c.3817G>A (p.Ala1273Thr)	not specified [RCV004262383]	uncertain significance	8	143795067	143795067	Human		name
329391776	CV2445027	single nucleotide variant	NM_182706.5(SCRIB):c.4685C>T (p.Pro1562Leu)	not specified [RCV004261640]	uncertain significance	8	143791886	143791886	Human		name
329402638	CV2451135	single nucleotide variant	NM_182706.5(SCRIB):c.3557T>C (p.Val1186Ala)	not specified [RCV004270069]	uncertain significance	8	143803429	143803429	Human		name
329377153	CV2451854	single nucleotide variant	NM_182706.5(SCRIB):c.3269G>A (p.Arg1090Gln)	not specified [RCV004276535]	uncertain significance	8	143803792	143803792	Human		name
329401831	CV2457477	single nucleotide variant	NM_182706.5(SCRIB):c.4297C>T (p.Pro1433Ser)	not specified [RCV004267295]	uncertain significance	8	143792516	143792516	Human		name
329370260	CV2461652	single nucleotide variant	NM_182706.5(SCRIB):c.4451C>T (p.Ala1484Val)	not specified [RCV004269819]	uncertain significance	8	143792283	143792283	Human		name
329352796	CV2470539	single nucleotide variant	NM_182706.5(SCRIB):c.3865G>A (p.Gly1289Arg)	not specified [RCV004273550]	uncertain significance	8	143793944	143793944	Human		name
401736001	CV2672797	single nucleotide variant	NM_182706.5(SCRIB):c.4138G>T (p.Val1380Leu)	not specified [RCV004281578]	uncertain significance	8	143792747	143792747	Human		name
401757139	CV2675062	single nucleotide variant	NM_182706.5(SCRIB):c.4213C>T (p.Arg1405Trp)	not specified [RCV004289846]	uncertain significance	8	143792600	143792600	Human		name
401759254	CV2690841	single nucleotide variant	NM_182706.5(SCRIB):c.4465G>A (p.Glu1489Lys)	not specified [RCV004298547]	uncertain significance	8	143792269	143792269	Human		name
401767897	CV2727315	single nucleotide variant	NM_182706.5(SCRIB):c.4622C>A (p.Ser1541Tyr)	not specified [RCV004327427]	uncertain significance	8	143792026	143792026	Human		name
401859414	CV2771587	single nucleotide variant	NM_182706.5(SCRIB):c.4546G>A (p.Ala1516Thr)	not specified [RCV004350399]	uncertain significance	8	143792102	143792102	Human		name
401863948	CV2784822	single nucleotide variant	NM_182706.5(SCRIB):c.4711A>C (p.Lys1571Gln)	not specified [RCV004352610]	uncertain significance	8	143791725	143791725	Human		name
401888496	CV2785028	single nucleotide variant	NM_182706.5(SCRIB):c.4588C>T (p.Arg1530Trp)	not specified [RCV004355047]	uncertain significance	8	143792060	143792060	Human		name
401930758	CV2828605	single nucleotide variant	NM_182706.5(SCRIB):c.3995C>T (p.Pro1332Leu)	SCRIB-related disorder [RCV003980949]\|not provided [RCV003440732]	benign\|likely benign	8	143792998	143792998	Human		name , trait , alternate_id
405290839	CV3197136	single nucleotide variant	NM_182706.5(SCRIB):c.4663G>A (p.Gly1555Ser)	SCRIB-related disorder [RCV003984698]	benign	8	143791908	143791908	Human		name , trait , alternate_id
405268884	CV3199075	single nucleotide variant	NM_182706.5(SCRIB):c.3067G>A (p.Asp1023Asn)	SCRIB-related disorder [RCV003912180]	benign	8	143804099	143804099	Human		name , trait , alternate_id
405281223	CV3199553	single nucleotide variant	NM_182706.5(SCRIB):c.3487C>G (p.Gln1163Glu)	SCRIB-related disorder [RCV003907262]	benign	8	143803499	143803499	Human		name , trait , alternate_id
405294110	CV3203465	single nucleotide variant	NM_182706.5(SCRIB):c.4009C>T (p.Pro1337Ser)	SCRIB-related disorder [RCV003933998]	benign	8	143792984	143792984	Human		name , trait , alternate_id
405281736	CV3213568	single nucleotide variant	NM_182706.5(SCRIB):c.3455G>A (p.Arg1152His)	SCRIB-related disorder [RCV003907363]	benign	8	143803531	143803531	Human		name , trait , alternate_id
405293705	CV3214460	single nucleotide variant	NM_182706.5(SCRIB):c.4273G>A (p.Glu1425Lys)	SCRIB-related disorder [RCV003932142]	likely benign	8	143792540	143792540	Human		name , trait , alternate_id
405759512	CV3314037	single nucleotide variant	NM_182706.5(SCRIB):c.3142G>A (p.Ala1048Thr)	not specified [RCV004455052]	uncertain significance	8	143803919	143803919	Human		name
405759518	CV3314038	single nucleotide variant	NM_182706.5(SCRIB):c.3238C>T (p.Arg1080Trp)	not specified [RCV004455053]	uncertain significance	8	143803823	143803823	Human		name
405759531	CV3314040	single nucleotide variant	NM_182706.5(SCRIB):c.3296G>A (p.Arg1099Gln)	not specified [RCV004455055]	uncertain significance	8	143803765	143803765	Human		name
405759537	CV3314041	single nucleotide variant	NM_182706.5(SCRIB):c.3436G>A (p.Gly1146Arg)	not specified [RCV004455056]	uncertain significance	8	143803550	143803550	Human		name
405759542	CV3314042	single nucleotide variant	NM_182706.5(SCRIB):c.3593C>G (p.Ala1198Gly)	not specified [RCV004455057]	uncertain significance	8	143803393	143803393	Human		name
405759555	CV3314044	single nucleotide variant	NM_182706.5(SCRIB):c.3923C>T (p.Pro1308Leu)	not specified [RCV004455059]	uncertain significance	8	143793070	143793070	Human		name
405759564	CV3314045	single nucleotide variant	NM_182706.5(SCRIB):c.4040C>G (p.Ala1347Gly)	not specified [RCV004455060]	uncertain significance	8	143792845	143792845	Human		name
405759571	CV3314046	single nucleotide variant	NM_182706.5(SCRIB):c.4277A>G (p.Glu1426Gly)	not specified [RCV004455061]	uncertain significance	8	143792536	143792536	Human		name
405759577	CV3314047	single nucleotide variant	NM_182706.5(SCRIB):c.4287G>C (p.Glu1429Asp)	not specified [RCV004455062]	uncertain significance	8	143792526	143792526	Human		name
405759584	CV3314048	single nucleotide variant	NM_182706.5(SCRIB):c.4288G>A (p.Asp1430Asn)	not specified [RCV004455063]	uncertain significance	8	143792525	143792525	Human		name
405759587	CV3314049	single nucleotide variant	NM_182706.5(SCRIB):c.4297C>A (p.Pro1433Thr)	not specified [RCV004455064]	uncertain significance	8	143792516	143792516	Human		name
405759594	CV3314050	single nucleotide variant	NM_182706.5(SCRIB):c.4352C>T (p.Pro1451Leu)	not specified [RCV004455065]	uncertain significance	8	143792382	143792382	Human		name
405759601	CV3314051	single nucleotide variant	NM_182706.5(SCRIB):c.4448G>A (p.Arg1483His)	not specified [RCV004455066]	uncertain significance	8	143792286	143792286	Human		name
405759610	CV3314052	single nucleotide variant	NM_182706.5(SCRIB):c.4628C>G (p.Ala1543Gly)	not specified [RCV004455067]	uncertain significance	8	143792020	143792020	Human		name
405759616	CV3314053	single nucleotide variant	NM_182706.5(SCRIB):c.4640C>T (p.Ser1547Leu)	not specified [RCV004455068]	uncertain significance	8	143792008	143792008	Human		name
405759622	CV3314054	single nucleotide variant	NM_182706.5(SCRIB):c.4648C>G (p.Pro1550Ala)	not specified [RCV004455069]	uncertain significance	8	143792000	143792000	Human		name
405759628	CV3314055	single nucleotide variant	NM_182706.5(SCRIB):c.4732G>T (p.Ala1578Ser)	not specified [RCV004455070]	uncertain significance	8	143791704	143791704	Human		name
405759634	CV3314056	single nucleotide variant	NM_182706.5(SCRIB):c.4799C>T (p.Ser1600Phe)	not specified [RCV004455071]	uncertain significance	8	143791412	143791412	Human		name
405759639	CV3314057	single nucleotide variant	NM_182706.5(SCRIB):c.4960C>T (p.Pro1654Ser)	not specified [RCV004455072]	uncertain significance	8	143791171	143791171	Human		name
407514584	CV3480216	single nucleotide variant	NM_182706.5(SCRIB):c.4921C>T (p.Arg1641Cys)	not specified [RCV004674631]	uncertain significance	8	143791210	143791210	Human		name
407461815	CV3480221	single nucleotide variant	NM_182706.5(SCRIB):c.4691G>A (p.Arg1564His)	not specified [RCV004658850]	uncertain significance	8	143791880	143791880	Human		name
407491477	CV3480223	single nucleotide variant	NM_182706.5(SCRIB):c.3355G>C (p.Ala1119Pro)	not specified [RCV004666903]	uncertain significance	8	143803706	143803706	Human		name
407461818	CV3480224	single nucleotide variant	NM_182706.5(SCRIB):c.3553A>G (p.Thr1185Ala)	not specified [RCV004658851]	uncertain significance	8	143803433	143803433	Human		name
407461821	CV3480225	single nucleotide variant	NM_182706.5(SCRIB):c.4220C>T (p.Ala1407Val)	not specified [RCV004658852]	likely benign	8	143792593	143792593	Human		name
407461827	CV3480227	single nucleotide variant	NM_182706.5(SCRIB):c.4087C>G (p.Leu1363Val)	not specified [RCV004658854]	uncertain significance	8	143792798	143792798	Human		name
407461830	CV3480228	single nucleotide variant	NM_182706.5(SCRIB):c.2998T>C (p.Tyr1000His)	not specified [RCV004658855]	uncertain significance	8	143804579	143804579	Human		name
597692686	CV3598327	single nucleotide variant	NM_182706.5(SCRIB):c.3838G>A (p.Val1280Met)	not specified [RCV004859034]	uncertain significance	8	143795046	143795046	Human		name
597692697	CV3598328	single nucleotide variant	NM_182706.5(SCRIB):c.4444G>A (p.Glu1482Lys)	not specified [RCV004859035]	uncertain significance	8	143792290	143792290	Human		name
597692706	CV3598329	single nucleotide variant	NM_182706.5(SCRIB):c.3454C>T (p.Arg1152Cys)	not specified [RCV004859036]	uncertain significance	8	143803532	143803532	Human		name
597692715	CV3598330	single nucleotide variant	NM_182706.5(SCRIB):c.3721G>A (p.Glu1241Lys)	not specified [RCV004859037]	uncertain significance	8	143795327	143795327	Human		name
597692745	CV3598334	single nucleotide variant	NM_182706.5(SCRIB):c.3682G>A (p.Asp1228Asn)	not specified [RCV004859040]	uncertain significance	8	143795452	143795452	Human		name
597692778	CV3598337	single nucleotide variant	NM_182706.5(SCRIB):c.3112A>G (p.Ile1038Val)	not specified [RCV004859043]	uncertain significance	8	143804054	143804054	Human		name
597692821	CV3598341	single nucleotide variant	NM_182706.5(SCRIB):c.4097G>A (p.Arg1366His)	not specified [RCV004859047]	uncertain significance	8	143792788	143792788	Human		name
597692854	CV3598344	single nucleotide variant	NM_182706.5(SCRIB):c.4003G>A (p.Asp1335Asn)	not specified [RCV004859050]	uncertain significance	8	143792990	143792990	Human		name
597692878	CV3598346	single nucleotide variant	NM_182706.5(SCRIB):c.3295C>T (p.Arg1099Trp)	not specified [RCV004859052]	uncertain significance	8	143803766	143803766	Human		name
597692888	CV3598347	single nucleotide variant	NM_182706.5(SCRIB):c.4537G>A (p.Ala1513Thr)	not specified [RCV004859053]	uncertain significance	8	143792111	143792111	Human		name
597692911	CV3598349	single nucleotide variant	NM_182706.5(SCRIB):c.3028G>A (p.Ala1010Thr)	not specified [RCV004859055]	uncertain significance	8	143804138	143804138	Human		name
597692920	CV3598350	single nucleotide variant	NM_182706.5(SCRIB):c.3121G>A (p.Val1041Met)	not specified [RCV004859056]	uncertain significance	8	143803940	143803940	Human		name
597692983	CV3598358	single nucleotide variant	NM_182706.5(SCRIB):c.3589G>C (p.Asp1197His)	not specified [RCV004859063]	uncertain significance	8	143803397	143803397	Human		name
597692994	CV3598359	single nucleotide variant	NM_182706.5(SCRIB):c.4579C>T (p.Arg1527Trp)	not specified [RCV004859064]	uncertain significance	8	143792069	143792069	Human		name
597693018	CV3598361	single nucleotide variant	NM_182706.5(SCRIB):c.4025C>T (p.Thr1342Met)	not specified [RCV004859066]	uncertain significance	8	143792860	143792860	Human		name
597693038	CV3598363	single nucleotide variant	NM_182706.5(SCRIB):c.3940C>T (p.Pro1314Ser)	not specified [RCV004859068]	uncertain significance	8	143793053	143793053	Human		name
597693050	CV3598364	single nucleotide variant	NM_182706.5(SCRIB):c.3265G>A (p.Val1089Met)	not specified [RCV004859069]	uncertain significance	8	143803796	143803796	Human		name
598235476	CV3910565	single nucleotide variant	NM_182706.5(SCRIB):c.3556G>A (p.Val1186Met)	not specified [RCV005275253]	uncertain significance	8	143803430	143803430	Human		name
598235504	CV3910569	single nucleotide variant	NM_182706.5(SCRIB):c.4427C>T (p.Pro1476Leu)	not specified [RCV005275257]	uncertain significance	8	143792307	143792307	Human		name
598235558	CV3910577	single nucleotide variant	NM_182706.5(SCRIB):c.4241C>T (p.Ala1414Val)	not specified [RCV005275265]	uncertain significance	8	143792572	143792572	Human		name
598235566	CV3910578	single nucleotide variant	NM_182706.5(SCRIB):c.3685C>T (p.Arg1229Trp)	not specified [RCV005275266]	uncertain significance	8	143795449	143795449	Human		name
598235574	CV3910579	single nucleotide variant	NM_182706.5(SCRIB):c.4918C>T (p.Arg1640Cys)	not specified [RCV005275267]	uncertain significance	8	143791213	143791213	Human		name
598235580	CV3910580	single nucleotide variant	NM_182706.5(SCRIB):c.4919G>A (p.Arg1640His)	not specified [RCV005275268]	uncertain significance	8	143791212	143791212	Human		name
598235587	CV3910581	single nucleotide variant	NM_182706.5(SCRIB):c.4894G>C (p.Glu1632Gln)	not specified [RCV005275269]	uncertain significance	8	143791237	143791237	Human		name
598235593	CV3910582	single nucleotide variant	NM_182706.5(SCRIB):c.3599T>G (p.Leu1200Arg)	not specified [RCV005275270]	uncertain significance	8	143803387	143803387	Human		name
598235600	CV3910583	single nucleotide variant	NM_182706.5(SCRIB):c.4880G>A (p.Gly1627Asp)	not specified [RCV005275271]	uncertain significance	8	143791251	143791251	Human		name
598235610	CV3910585	single nucleotide variant	NM_182706.5(SCRIB):c.4589G>A (p.Arg1530Gln)	not specified [RCV005275273]	uncertain significance	8	143792059	143792059	Human		name
598235618	CV3910586	single nucleotide variant	NM_182706.5(SCRIB):c.3050G>C (p.Ser1017Thr)	not specified [RCV005275274]	uncertain significance	8	143804116	143804116	Human		name
598235642	CV3910589	single nucleotide variant	NM_182706.5(SCRIB):c.4343C>T (p.Ser1448Phe)	not specified [RCV005275277]	uncertain significance	8	143792391	143792391	Human		name
598235649	CV3910590	single nucleotide variant	NM_182706.5(SCRIB):c.4183A>G (p.Lys1395Glu)	not specified [RCV005275278]	uncertain significance	8	143792630	143792630	Human		name
598235667	CV3910593	single nucleotide variant	NM_182706.5(SCRIB):c.3929C>T (p.Pro1310Leu)	not specified [RCV005275281]	uncertain significance	8	143793064	143793064	Human		name
598235687	CV3910596	single nucleotide variant	NM_182706.5(SCRIB):c.4831G>A (p.Glu1611Lys)	not specified [RCV005275284]	uncertain significance	8	143791300	143791300	Human		name
598235720	CV3910601	single nucleotide variant	NM_182706.5(SCRIB):c.4354C>G (p.Leu1452Val)	not specified [RCV005275289]	uncertain significance	8	143792380	143792380	Human		name
598235726	CV3910602	single nucleotide variant	NM_182706.5(SCRIB):c.4471C>T (p.Arg1491Trp)	not specified [RCV005275290]	uncertain significance	8	143792263	143792263	Human		name
15180844	CV736497	single nucleotide variant	NM_182706.5(SCRIB):c.4775C>T (p.Pro1592Leu)	not provided [RCV000907450]	likely benign	8	143791436	143791436	Human		name
405277482	CV3195852	microsatellite	NM_182706.5(SCRIB):c.2025GGA[3] (p.Glu679del)	SCRIB-related disorder [RCV003904380]	likely benign	8	143808688	143808690	Human		name , trait , alternate_id

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