Sp1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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769 records found for search term Sp1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15195564	CV760228	single nucleotide variant	NM_138473.3(SP1):c.8-10A>G	not provided [RCV000911450]	likely benign	12	53381649	53381649	Human		name
8654047	CV130622	single nucleotide variant	NM_138473.2(SP1):c.-1060T>A	Lung cancer [RCV000111109]	uncertain significance	12	53379232	53379232	Human		name
15161161	CV725176	single nucleotide variant	NM_138473.3(SP1):c.243C>G (p.Ser81=)	not provided [RCV000881522]	benign	12	53382190	53382190	Human		name
405775205	CV3333614	single nucleotide variant	NM_138473.3(SP1):c.74A>G (p.Asn25Ser)	not specified [RCV004457683]	uncertain significance	12	53381725	53381725	Human		name
407525411	CV3485198	single nucleotide variant	NM_138473.3(SP1):c.83A>C (p.Asn28Thr)	not specified [RCV004679239]	uncertain significance	12	53381734	53381734	Human		name
15141483	CV753488	single nucleotide variant	NM_138473.3(SP1):c.957C>G (p.Ser319=)	not provided [RCV000921848]	likely benign	12	53382904	53382904	Human		name
329361929	CV2448126	single nucleotide variant	NM_138473.3(SP1):c.268A>G (p.Thr90Ala)	not specified [RCV004263346]	uncertain significance	12	53382215	53382215	Human		name
405775187	CV3333611	single nucleotide variant	NM_138473.3(SP1):c.245A>G (p.Gln82Arg)	not specified [RCV004457680]	uncertain significance	12	53382192	53382192	Human		name
405775193	CV3333612	single nucleotide variant	NM_138473.3(SP1):c.269C>T (p.Thr90Ile)	not specified [RCV004457681]	uncertain significance	12	53382216	53382216	Human		name
407505007	CV3485201	single nucleotide variant	NM_138473.3(SP1):c.144C>G (p.Ser48Arg)	not specified [RCV004670679]	uncertain significance	12	53381795	53381795	Human		name
598247609	CV3922465	single nucleotide variant	NM_138473.3(SP1):c.128C>T (p.Thr43Ile)	not specified [RCV005277321]	uncertain significance	12	53381779	53381779	Human		name
15190635	CV725177	single nucleotide variant	NM_138473.3(SP1):c.1587C>A (p.Leu529=)	not provided [RCV000888154]	benign	12	53383534	53383534	Human		name
15193942	CV725178	single nucleotide variant	NM_138473.3(SP1):c.2304C>T (p.Asn768=)	not provided [RCV000889083]	benign	12	53411186	53411186	Human		name
15163202	CV725179	single nucleotide variant	NM_138473.3(SP1):c.2355C>T (p.Phe785=)	not provided [RCV000881918]	likely benign	12	53411237	53411237	Human		name
15160830	CV753489	single nucleotide variant	NM_138473.3(SP1):c.1851G>A (p.Ser617=)	not provided [RCV000925564]	likely benign	12	53409368	53409368	Human		name
156047326	CV2216144	single nucleotide variant	NM_138473.3(SP1):c.977G>C (p.Ser326Thr)	not specified [RCV004097142]	uncertain significance	12	53382924	53382924	Human		name
156124524	CV2227357	single nucleotide variant	NM_138473.3(SP1):c.361A>G (p.Lys121Glu)	not specified [RCV004091878]	uncertain significance	12	53382308	53382308	Human		name
156270864	CV2290200	single nucleotide variant	NM_138473.3(SP1):c.968A>G (p.Asn323Ser)	not specified [RCV004152856]	uncertain significance	12	53382915	53382915	Human		name
156150075	CV2318604	single nucleotide variant	NM_138473.3(SP1):c.680C>G (p.Ala227Gly)	not specified [RCV004173503]	uncertain significance	12	53382627	53382627	Human		name
156278577	CV2330934	single nucleotide variant	NM_138473.3(SP1):c.942A>T (p.Gln314His)	not specified [RCV004185982]	uncertain significance	12	53382889	53382889	Human		name
156155432	CV2371272	single nucleotide variant	NM_138473.3(SP1):c.298C>T (p.Leu100Phe)	not specified [RCV004221007]	uncertain significance	12	53382245	53382245	Human		name
329373375	CV2434228	single nucleotide variant	NM_138473.3(SP1):c.991A>G (p.Thr331Ala)	not specified [RCV004251904]	uncertain significance	12	53382938	53382938	Human		name
401718517	CV2704628	single nucleotide variant	NM_138473.3(SP1):c.823G>C (p.Ala275Pro)	not specified [RCV004313663]	uncertain significance	12	53382770	53382770	Human		name
401870456	CV2762746	single nucleotide variant	NM_138473.3(SP1):c.893C>G (p.Pro298Arg)	not specified [RCV004340302]	uncertain significance	12	53382840	53382840	Human		name
401879812	CV2769755	single nucleotide variant	NM_138473.3(SP1):c.512T>C (p.Ile171Thr)	not specified [RCV004351670]	uncertain significance	12	53382459	53382459	Human		name
401896509	CV2780878	single nucleotide variant	NM_138473.3(SP1):c.625G>C (p.Gly209Arg)	not specified [RCV004354425]	uncertain significance	12	53382572	53382572	Human		name
401882738	CV2788569	single nucleotide variant	NM_138473.3(SP1):c.376A>G (p.Ser126Gly)	not specified [RCV004361067]	uncertain significance	12	53382323	53382323	Human		name
405775199	CV3333613	single nucleotide variant	NM_138473.3(SP1):c.440A>G (p.Tyr147Cys)	not specified [RCV004457682]	uncertain significance	12	53382387	53382387	Human		name
407505014	CV3485197	single nucleotide variant	NM_138473.3(SP1):c.682A>G (p.Met228Val)	not specified [RCV004670677]	uncertain significance	12	53382629	53382629	Human		name
407525412	CV3485199	single nucleotide variant	NM_138473.3(SP1):c.383C>T (p.Thr128Ile)	not specified [RCV004679240]	uncertain significance	12	53382330	53382330	Human		name
597756656	CV3603979	single nucleotide variant	NM_138473.3(SP1):c.931G>T (p.Val311Leu)	not specified [RCV004868441]	uncertain significance	12	53382878	53382878	Human		name
598247625	CV3922467	single nucleotide variant	NM_138473.3(SP1):c.418C>T (p.Arg140Cys)	not specified [RCV005277323]	uncertain significance	12	53382365	53382365	Human		name
156168205	CV2197662	single nucleotide variant	NM_138473.3(SP1):c.2303A>G (p.Asn768Ser)	not specified [RCV004074872]	uncertain significance	12	53411185	53411185	Human		name
155981983	CV2337113	single nucleotide variant	NM_138473.3(SP1):c.1459A>G (p.Met487Val)	not specified [RCV004192874]	uncertain significance	12	53383406	53383406	Human		name
155979487	CV2339114	single nucleotide variant	NM_138473.3(SP1):c.1676G>A (p.Gly559Asp)	not specified [RCV004187156]	uncertain significance	12	53406585	53406585	Human		name
156105919	CV2352571	single nucleotide variant	NM_138473.3(SP1):c.2282G>A (p.Arg761His)	not specified [RCV004203068]	uncertain significance	12	53411164	53411164	Human		name
329374338	CV2463392	single nucleotide variant	NM_138473.3(SP1):c.1457C>A (p.Pro486Gln)	not specified [RCV004277231]	uncertain significance	12	53383404	53383404	Human		name
401753220	CV2674818	single nucleotide variant	NM_138473.3(SP1):c.1428C>G (p.Asn476Lys)	not specified [RCV004294096]	uncertain significance	12	53383375	53383375	Human		name
401722278	CV2680881	single nucleotide variant	NM_138473.3(SP1):c.1355G>A (p.Arg452Gln)	not specified [RCV004293525]	uncertain significance	12	53383302	53383302	Human		name
401732566	CV2708889	single nucleotide variant	NM_138473.3(SP1):c.1126T>A (p.Ser376Thr)	not specified [RCV004309864]	uncertain significance	12	53383073	53383073	Human		name
401765295	CV2712614	single nucleotide variant	NM_138473.3(SP1):c.1753G>A (p.Gly585Arg)	not specified [RCV004307941]	uncertain significance	12	53406662	53406662	Human		name
401893454	CV2765315	single nucleotide variant	NM_138473.3(SP1):c.1166A>G (p.Glu389Gly)	not specified [RCV004339828]	uncertain significance	12	53383113	53383113	Human		name
405775160	CV3333607	single nucleotide variant	NM_138473.3(SP1):c.1067C>T (p.Pro356Leu)	not specified [RCV004457676]	uncertain significance	12	53383014	53383014	Human		name
405775166	CV3333608	single nucleotide variant	NM_138473.3(SP1):c.1259T>C (p.Leu420Ser)	not specified [RCV004457677]	uncertain significance	12	53383206	53383206	Human		name
405775172	CV3333609	single nucleotide variant	NM_138473.3(SP1):c.1463A>G (p.Gln488Arg)	not specified [RCV004457678]	uncertain significance	12	53383410	53383410	Human		name
405775180	CV3333610	single nucleotide variant	NM_138473.3(SP1):c.1850C>T (p.Ser617Leu)	not specified [RCV004457679]	uncertain significance	12	53409367	53409367	Human		name
407505016	CV3485194	single nucleotide variant	NM_138473.3(SP1):c.1465G>A (p.Gly489Ser)	not specified [RCV004670676]	uncertain significance	12	53383412	53383412	Human		name
407525409	CV3485195	single nucleotide variant	NM_138473.3(SP1):c.1688C>G (p.Ala563Gly)	not specified [RCV004679237]	uncertain significance	12	53406597	53406597	Human		name
407525410	CV3485196	single nucleotide variant	NM_138473.3(SP1):c.1063A>G (p.Thr355Ala)	not specified [RCV004679238]	uncertain significance	12	53383010	53383010	Human		name
597741725	CV3603981	single nucleotide variant	NM_138473.3(SP1):c.2348A>G (p.Asn783Ser)	not specified [RCV004864927]	uncertain significance	12	53411230	53411230	Human		name
597756666	CV3603982	single nucleotide variant	NM_138473.3(SP1):c.2188G>A (p.Ala730Thr)	not specified [RCV004868443]	uncertain significance	12	53411070	53411070	Human		name
597756670	CV3603983	single nucleotide variant	NM_138473.3(SP1):c.2279C>T (p.Ala760Val)	not specified [RCV004868444]	uncertain significance	12	53411161	53411161	Human		name
597741732	CV3603984	single nucleotide variant	NM_138473.3(SP1):c.1892A>G (p.Gln631Arg)	not specified [RCV004864928]	uncertain significance	12	53409409	53409409	Human		name
598247618	CV3922466	single nucleotide variant	NM_138473.3(SP1):c.1303C>T (p.Leu435Phe)	not specified [RCV005277322]	uncertain significance	12	53383250	53383250	Human		name
11596479	CV288584	single nucleotide variant	NM_080424.4(SP110):c.*82G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000383012]	uncertain significance	2	230169042	230169042	Human	1	name
28899484	CV884098	single nucleotide variant	NM_080424.4(SP110):c.-85T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142378]	uncertain significance	2	230219957	230219957	Human	1	name
11586425	CV285197	deletion	NM_080424.4(SP110):c.*206del	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000287953]\|not provided [RCV004694536]	uncertain significance	2	230168918	230168918	Human	1	name
11591436	CV288582	single nucleotide variant	NM_080424.4(SP110):c.*204A>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000328957]	uncertain significance	2	230168920	230168920	Human	1	name
28898903	CV884086	single nucleotide variant	NM_080424.4(SP110):c.*203A>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142167]	uncertain significance	2	230168921	230168921	Human	1	name
28898907	CV884087	single nucleotide variant	NM_080424.4(SP110):c.*158C>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142168]	uncertain significance	2	230168966	230168966	Human	1	name
127240397	CV1069256	single nucleotide variant	NM_080424.4(SP110):c.751+9G>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001397764]	likely benign	2	230211461	230211461	Human	1	name
127234178	CV1069257	single nucleotide variant	NM_080424.4(SP110):c.317-9C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001414157]	likely benign	2	230213036	230213036	Human	1	name
127329317	CV1133399	single nucleotide variant	NM_080424.4(SP110):c.147+9T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001487348]	likely benign	2	230216772	230216772	Human	1	name
150540946	CV1297226	single nucleotide variant	NM_080424.4(SP110):c.898+1G>A	not provided [RCV001766908]	uncertain significance	2	230207990	230207990	Human		name
151742538	CV1405044	single nucleotide variant	NM_080424.4(SP110):c.316+6G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001947237]	uncertain significance	2	230214944	230214944	Human	1	name
151752871	CV1508596	single nucleotide variant	NM_080424.4(SP110):c.583+6A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001986474]	uncertain significance	2	230212755	230212755	Human	1	name
156204744	CV2034896	single nucleotide variant	NM_080424.4(SP110):c.148-3T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002766374]	uncertain significance	2	230215121	230215121	Human	1	name
156007970	CV2126685	single nucleotide variant	NM_080424.4(SP110):c.583+3G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002975491]\|not specified [RCV004690340]	uncertain significance	2	230212758	230212758	Human	1	name
11590080	CV285894	single nucleotide variant	NM_080424.4(SP110):c.584-9C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000315466]\|not provided [RCV004708551]\|not specified [RCV000455028]	benign	2	230212439	230212439	Human	1	name
405042494	CV3141228	single nucleotide variant	NM_080424.4(SP110):c.316+8G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003831521]	likely benign	2	230214942	230214942	Human	1	name
597843416	CV3752502	single nucleotide variant	NM_080424.4(SP110):c.899-4C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005086908]	likely benign	2	230202732	230202732	Human	1	name
597874671	CV3836366	single nucleotide variant	NM_080424.4(SP110):c.317-6T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005177163]	likely benign	2	230213033	230213033	Human	1	name
13465254	CV450762	single nucleotide variant	NM_080424.4(SP110):c.583+8A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000542719]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001280999]\|SP110-related disorder [RCV003979985]	benign\|uncertain significance	2	230212753	230212753	Human	2	name , trait , alternate_id
8573353	CV76655	duplication	NM_080424.4(SP110):c.667+1dup	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000055978]	pathogenic\|not provided	2	230212345	230212346	Human	1	name
15100340	CV777252	single nucleotide variant	NM_007237.5(SP140):c.490+8T>C	not provided [RCV000958900]	benign	2	230241495	230241495	Human		name
38500036	CV960465	single nucleotide variant	NM_080424.4(SP110):c.899-3C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001245442]	uncertain significance	2	230202731	230202731	Human	1	name
127305058	CV1133395	single nucleotide variant	NM_080424.4(SP110):c.1448-8T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001499823]	likely benign	2	230177688	230177688	Human	1	name
127289840	CV1133397	single nucleotide variant	NM_080424.4(SP110):c.751+19A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001495775]	likely benign	2	230211451	230211451	Human	1	name
151348268	CV1323908	single nucleotide variant	NM_080424.4(SP110):c.668-21A>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001807838]\|not provided [RCV004709173]\|not specified [RCV003487791]	benign	2	230211574	230211574	Human	1	name
151844431	CV1381422	single nucleotide variant	NM_080424.4(SP110):c.2028+1G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001881757]	uncertain significance	2	230170620	230170620	Human	1	name
151826713	CV1422193	single nucleotide variant	NM_080424.4(SP110):c.1815+4A>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001955279]	uncertain significance	2	230172062	230172062	Human	1	name
152127463	CV1581104	single nucleotide variant	NM_080424.4(SP110):c.751+19A>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002099017]	likely benign	2	230211451	230211451	Human	1	name
152087731	CV1601309	single nucleotide variant	NM_080424.4(SP110):c.1348+9G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002093733]	likely benign	2	230183563	230183563	Human	1	name
152034875	CV1603997	deletion	NM_080424.4(SP110):c.1888-4del	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002087047]	likely benign	2	230170765	230170765	Human	1	name
152048495	CV1622991	single nucleotide variant	NM_080424.4(SP110):c.147+17C>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002126936]	likely benign	2	230216764	230216764	Human	1	name
152075671	CV1629500	single nucleotide variant	NM_080424.4(SP110):c.583+16C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002130182]	likely benign	2	230212745	230212745	Human	1	name
152082873	CV1641597	single nucleotide variant	NM_080424.4(SP110):c.583+19C>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002211649]	likely benign	2	230212742	230212742	Human	1	name
152091002	CV1654953	single nucleotide variant	NM_080424.4(SP110):c.1129+9T>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002212723]	likely benign	2	230200876	230200876	Human	1	name
156079270	CV1975706	single nucleotide variant	NM_080424.4(SP110):c.898+19A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002621489]	likely benign	2	230207972	230207972	Human	1	name
155996113	CV2034958	single nucleotide variant	NM_080424.4(SP110):c.1048+9G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002755969]	likely benign	2	230202570	230202570	Human	1	name
156108765	CV2042303	single nucleotide variant	NM_080424.4(SP110):c.667+14G>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002785313]	likely benign	2	230212333	230212333	Human	1	name
156207499	CV2074083	deletion	NM_080424.4(SP110):c.830-20del	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002829174]	benign	2	230208079	230208079	Human	1	name
156012537	CV2124699	single nucleotide variant	NM_080424.4(SP110):c.316+19T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002948351]	likely benign	2	230214931	230214931	Human	1	name
155944004	CV2130086	single nucleotide variant	NM_080424.4(SP110):c.1049-8T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002971473]	likely benign	2	230200973	230200973	Human	1	name
155982657	CV2153570	single nucleotide variant	NM_080424.4(SP110):c.584-18T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003016452]	likely benign	2	230212448	230212448	Human	1	name
243061357	CV2408887	single nucleotide variant	NM_080424.4(SP110):c.1129+4A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003138604]	uncertain significance	2	230200881	230200881	Human	1	name
404982920	CV2849203	single nucleotide variant	NM_080424.4(SP110):c.147+91A>G	not specified [RCV003489075]	benign	2	230216690	230216690	Human		name
11595477	CV288172	single nucleotide variant	NM_080424.4(SP110):c.1706+4A>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000371104]\|SP110-related disorder [RCV003957726]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	230172840	230172840	Human	1	name , trait , alternate_id
11589112	CV288173	single nucleotide variant	NM_080424.4(SP110):c.1591-6T>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000308233]	uncertain significance	2	230172965	230172965	Human	1	name
11592995	CV288600	single nucleotide variant	NM_080424.4(SP110):c.584-10C>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000344535]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001281000]\|SP110-related disorder [RCV003969964]\|not provided [RCV001706546]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	230212440	230212440	Human	2	name , trait , alternate_id
402480531	CV2890209	single nucleotide variant	NM_080424.4(SP110):c.317-15C>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003506448]	likely benign	2	230213042	230213042	Human	1	name
402472099	CV2904021	single nucleotide variant	NM_080424.4(SP110):c.830-12C>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003504647]	likely benign	2	230208071	230208071	Human	1	name
402475899	CV2927552	single nucleotide variant	NM_080424.4(SP110):c.668-17T>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003505711]	likely benign	2	230211570	230211570	Human	1	name
405105949	CV2962815	single nucleotide variant	NM_080424.4(SP110):c.1130-1G>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614496]	likely pathogenic	2	230186144	230186144	Human	1	name
405106398	CV2993809	single nucleotide variant	NM_080424.4(SP110):c.829+14T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614591]	likely benign	2	230209917	230209917	Human	1	name
405107435	CV3016414	single nucleotide variant	NM_080424.4(SP110):c.1888-2A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614739]	likely pathogenic	2	230170763	230170763	Human	1	name
405109487	CV3064200	single nucleotide variant	NM_080424.4(SP110):c.317-16C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615276]	likely benign	2	230213043	230213043	Human	1	name
405119017	CV3116151	single nucleotide variant	NM_080424.4(SP110):c.1129+7C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003814641]	likely benign	2	230200878	230200878	Human	1	name
405188287	CV3149250	single nucleotide variant	NM_080424.4(SP110):c.1349-2A>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003843176]	likely pathogenic	2	230178257	230178257	Human	1	name
405216198	CV3160806	single nucleotide variant	NM_080424.4(SP110):c.751+16T>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003862868]	likely benign	2	230211454	230211454	Human	1	name
405700736	CV3224913	single nucleotide variant	NM_080424.4(SP110):c.1816-1G>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003989197]	likely pathogenic	2	230171768	230171768	Human	1	name
407573305	CV3499107	single nucleotide variant	NM_080424.4(SP110):c.1447+5G>A	not specified [RCV004700079]	uncertain significance	2	230178152	230178152	Human		name
408365192	CV3500586	single nucleotide variant	NM_080424.4(SP110):c.1816-2A>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV004720636]	likely pathogenic	2	230171769	230171769	Human	1	name
597636924	CV3716832	single nucleotide variant	NM_080424.4(SP110):c.1706+2T>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005024335]	likely pathogenic	2	230172842	230172842	Human	1	name
597962657	CV3753755	single nucleotide variant	NM_080424.4(SP110):c.898+10G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005082059]	likely benign	2	230207981	230207981	Human	1	name
597936670	CV3759630	single nucleotide variant	NM_080424.4(SP110):c.751+20C>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005076750]	likely benign	2	230211450	230211450	Human	1	name
597968596	CV3791002	single nucleotide variant	NM_080424.4(SP110):c.752-19C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005141034]	likely benign	2	230210027	230210027	Human	1	name
597971140	CV3802458	single nucleotide variant	NM_080424.4(SP110):c.1447+1G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005142056]	likely pathogenic	2	230178156	230178156	Human	1	name
597857733	CV3822288	single nucleotide variant	NM_080424.4(SP110):c.667+14G>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005174586]	likely benign	2	230212333	230212333	Human	1	name
597914067	CV3833878	single nucleotide variant	NM_080424.4(SP110):c.898+17A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005183237]	likely benign	2	230207974	230207974	Human	1	name
597942006	CV3837215	single nucleotide variant	NM_080424.4(SP110):c.583+15C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005188046]	likely benign	2	230212746	230212746	Human	1	name
597899915	CV3850866	single nucleotide variant	NM_080424.4(SP110):c.1130-8T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005201850]	likely benign	2	230186151	230186151	Human	1	name
597904203	CV3856298	single nucleotide variant	NM_080424.4(SP110):c.1349-4T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005202526]	likely benign	2	230178259	230178259	Human	1	name
13534244	CV512809	single nucleotide variant	NM_080424.4(SP110):c.1591-9C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000624943]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	230172968	230172968	Human	1	name
13809211	CV557955	single nucleotide variant	NM_080424.4(SP110):c.1448-6T>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000702023]	uncertain significance	2	230177686	230177686	Human	1	name
15170554	CV743864	single nucleotide variant	NM_007237.5(SP140):c.1445-8T>C	not provided [RCV000905289]	benign	2	230270578	230270578	Human		name
15165490	CV759106	single nucleotide variant	NM_080424.4(SP110):c.1591-4G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000926637]	likely benign	2	230172963	230172963	Human	1	name
26913124	CV851406	single nucleotide variant	NM_080424.4(SP110):c.1707-9A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001054034]	uncertain significance	2	230172183	230172183	Human	1	name
28885507	CV887308	single nucleotide variant	NM_080424.4(SP110):c.898+14A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137536]	conflicting interpretations of pathogenicity\|uncertain significance	2	230207977	230207977	Human	1	name
28885515	CV887309	single nucleotide variant	NM_080424.4(SP110):c.829+15T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137538]	conflicting interpretations of pathogenicity\|uncertain significance	2	230209916	230209916	Human	1	name
28885522	CV887310	single nucleotide variant	NM_080424.4(SP110):c.829+10G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137539]	uncertain significance	2	230209921	230209921	Human	1	name
127303878	CV1112467	single nucleotide variant	NM_080424.4(SP110):c.1815+17C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001462034]	likely benign	2	230172049	230172049	Human	1	name
127301402	CV1112468	single nucleotide variant	NM_080424.4(SP110):c.1591-10G>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001461389]	likely benign	2	230172969	230172969	Human	1	name
127286527	CV1133394	single nucleotide variant	NM_080424.4(SP110):c.1591-18C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001494343]	likely benign	2	230172977	230172977	Human	1	name
127299440	CV1133396	single nucleotide variant	NM_080424.4(SP110):c.1447+13G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001498299]	likely benign	2	230178144	230178144	Human	1	name
127302763	CV1154040	single nucleotide variant	NM_080424.4(SP110):c.1706+20G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001515182]\|not provided [RCV004710277]	benign	2	230172824	230172824	Human	1	name
151727079	CV1482387	single nucleotide variant	NM_080424.4(SP110):c.1130-16A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002020912]	likely benign\|uncertain significance	2	230186159	230186159	Human	1	name
152175791	CV1527206	single nucleotide variant	NM_080424.4(SP110):c.1048+16G>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002163928]	likely benign	2	230202563	230202563	Human	1	name
152152435	CV1545887	single nucleotide variant	NM_080424.4(SP110):c.1706+19C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002179660]	likely benign	2	230172825	230172825	Human	1	name
152081062	CV1548200	single nucleotide variant	NM_080424.4(SP110):c.1815+20C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002076372]	benign	2	230172046	230172046	Human	1	name
152103102	CV1548515	single nucleotide variant	NM_080424.4(SP110):c.1349-19T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002079243]	likely benign	2	230178274	230178274	Human	1	name
152128519	CV1554399	single nucleotide variant	NM_080424.4(SP110):c.1590+10T>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002176481]	likely benign	2	230177528	230177528	Human	1	name
152029910	CV1565858	single nucleotide variant	NM_080424.4(SP110):c.2029-18T>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002085965]	likely benign	2	230169255	230169255	Human	1	name
152107417	CV1577893	single nucleotide variant	NM_080424.4(SP110):c.1590+13C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002096364]	likely benign	2	230177525	230177525	Human	1	name
152123640	CV1579258	single nucleotide variant	NM_080424.4(SP110):c.1815+20C>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002154577]	likely benign	2	230172046	230172046	Human	1	name
152038722	CV1644280	single nucleotide variant	NM_080424.4(SP110):c.1706+20G>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002165367]	likely benign	2	230172824	230172824	Human	1	name
152150630	CV1658548	single nucleotide variant	NM_080424.4(SP110):c.1348+20C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002139457]	likely benign	2	230183552	230183552	Human	1	name
156251502	CV1883799	single nucleotide variant	NM_080424.4(SP110):c.1706+17C>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003086119]	likely benign	2	230172827	230172827	Human	1	name
156357046	CV1891153	single nucleotide variant	NM_080424.4(SP110):c.1590+16G>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003091429]	likely benign	2	230177522	230177522	Human	1	name
156314158	CV1907020	single nucleotide variant	NM_080424.4(SP110):c.1707-11C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003088620]	likely benign	2	230172185	230172185	Human	1	name
156419988	CV1979324	single nucleotide variant	NM_080424.4(SP110):c.1049-16A>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002613237]	likely benign	2	230200981	230200981	Human	1	name
156283382	CV2001533	single nucleotide variant	NM_080424.4(SP110):c.1448-13C>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002646920]	likely benign	2	230177693	230177693	Human	1	name
8558770	CV20579	single nucleotide variant	NM_080424.4(SP110):c.752-483C>T	Mycobacterium tuberculosis, susceptibility to [RCV000005878]	risk factor\|uncertain significance	2	230210491	230210491	Human	1	name
156290748	CV2064983	single nucleotide variant	NM_080424.4(SP110):c.1130-10T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002856741]	uncertain significance	2	230186153	230186153	Human	1	name
156221153	CV2107322	single nucleotide variant	NM_080424.4(SP110):c.1129+16T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002918570]	likely benign	2	230200869	230200869	Human	1	name
404982679	CV2849152	single nucleotide variant	NM_080424.4(SP110):c.583+116T>C	not specified [RCV003489024]	benign	2	230212645	230212645	Human		name
11592302	CV288165	single nucleotide variant	NM_080424.4(SP110):c.1815+14A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000337380]\|not provided [RCV004708546]\|not specified [RCV000454678]	benign\|likely benign	2	230172052	230172052	Human	1	name
402472040	CV2897398	single nucleotide variant	NM_080424.4(SP110):c.1130-12T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003504663]	likely benign	2	230186155	230186155	Human	1	name
402475476	CV2932752	single nucleotide variant	NM_080424.4(SP110):c.1888-17G>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003505635]	likely benign	2	230170778	230170778	Human	1	name
405096183	CV2936454	single nucleotide variant	NM_080424.4(SP110):c.1815+11T>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614249]	likely benign	2	230172055	230172055	Human	1	name
405089202	CV2971974	single nucleotide variant	NM_080424.4(SP110):c.1349-18G>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003613591]	likely benign	2	230178273	230178273	Human	1	name
405091072	CV2987641	single nucleotide variant	NM_080424.4(SP110):c.1129+18C>A	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003613735]	likely benign	2	230200867	230200867	Human	1	name
405107786	CV3019163	single nucleotide variant	NM_080424.4(SP110):c.1706+11T>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614908]	likely benign	2	230172833	230172833	Human	1	name
405108126	CV3031080	single nucleotide variant	NM_080424.4(SP110):c.1590+20G>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614992]	likely benign	2	230177518	230177518	Human	1	name
405110279	CV3079380	single nucleotide variant	NM_080424.4(SP110):c.1707-14G>T	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615448]	likely benign	2	230172188	230172188	Human	1	name
597839617	CV3758391	single nucleotide variant	NM_080424.4(SP110):c.1048+17A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005086226]	likely benign	2	230202562	230202562	Human	1	name
597955176	CV3787042	deletion	NM_080424.4(SP110):c.1279+11del	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005121926]	likely benign	2	230185983	230185983	Human	1	name
597922833	CV3808428	single nucleotide variant	NM_080424.4(SP110):c.2029-15T>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005155942]	likely benign	2	230169252	230169252	Human	1	name
597972830	CV3819941	single nucleotide variant	NM_080424.4(SP110):c.1707-16G>C	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005167655]	likely benign	2	230172190	230172190	Human	1	name
15164102	CV777254	single nucleotide variant	NM_138402.6(SP140L):c.1644+4G>A	not provided [RCV000948256]	benign	2	230401811	230401811	Human		name
26894263	CV851158	single nucleotide variant	NM_080424.4(SP110):c.1280-10C>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001069269]	uncertain significance	2	230183650	230183650	Human	1	name
28899227	CV887307	single nucleotide variant	NM_080424.4(SP110):c.1130-11A>G	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142279]	benign	2	230186154	230186154	Human	1	name
405110239	CV3073889	microsatellite	NM_080424.4(SP110):c.1888-22CT[3]	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615441]	likely benign	2	230170779	230170780	Human		name
11592154	CV288161	microsatellite	NM_080424.4(SP110):c.2029-7_2029-6del	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000335840]	conflicting interpretations of pathogenicity\|uncertain significance	2	230169243	230169244	Human		name
405105417	CV2957028	deletion	NM_080424.4(SP110):c.668-16_668-15del	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614382]	likely benign	2	230211568	230211569	Human	1	name
405090621	CV2984047	deletion	NM_080424.4(SP110):c.1815+5_1815+6del	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003613701]	uncertain significance	2	230172060	230172061	Human	1	name
405092482	CV2986295	microsatellite	NM_080424.4(SP110):c.751+12_751+16del	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003613843]	likely benign	2	230211454	230211458	Human		name
11666689	CV353562	insertion	NM_080424.4(SP110):c.205_206A[4]TTAA[1]	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000369702]	benign	2	230168917	230168918	Human	1	name
127321869	CV1133400	single nucleotide variant	NM_080424.4(SP110):c.144C>T (p.Tyr48=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001484719]\|SP110-related disorder [RCV003956073]	likely benign	2	230216784	230216784	Human	1	name , trait , alternate_id
127311836	CV1154039	single nucleotide variant	NM_080424.4(SP110):c.1956G>A (p.Thr652=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001518761]\|SP110-related disorder [RCV003980569]\|not provided [RCV001815578]	benign\|likely benign	2	230170693	230170693	Human	1	name , trait , alternate_id
156054007	CV2101876	single nucleotide variant	NM_080424.4(SP110):c.669G>A (p.Val223=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002886258]\|SP110-related disorder [RCV003926463]	likely benign\|uncertain significance	2	230211552	230211552	Human	1	name , trait , alternate_id
11591369	CV285873	single nucleotide variant	NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000328215]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002504133]\|SP110-related disorder [RCV003972417]\|not provided [RCV002292530]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	230178157	230178157	Human	2	name , trait , alternate_id
11589294	CV288604	single nucleotide variant	NM_080424.4(SP110):c.542T>G (p.Leu181Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000309546]\|SP110-related disorder [RCV003922446]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	230212802	230212802	Human	1	name , trait , alternate_id
405276161	CV3203846	single nucleotide variant	NC_000002.12:g.230221724C>A	SP110-related disorder [RCV003942013]	likely benign	2	230221724	230221724	Human		trait , alternate_id
405262068	CV3212673	single nucleotide variant	NM_080424.4(SP110):c.1176G>A (p.Val392=)	SP110-related disorder [RCV003944714]	likely benign	2	230186097	230186097	Human		name , trait , alternate_id
13472908	CV450764	single nucleotide variant	NM_080424.4(SP110):c.522C>T (p.Pro174=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000525137]\|SP110-related disorder [RCV003900179]	benign\|likely benign	2	230212822	230212822	Human	1	name , trait , alternate_id
13612382	CV517954	single nucleotide variant	NM_080424.4(SP110):c.1647C>T (p.Cys549=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642276]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002493002]\|SP110-related disorder [RCV003980244]	benign\|likely benign	2	230172903	230172903	Human	2	name , trait , alternate_id
15186145	CV719692	single nucleotide variant	NM_080424.4(SP110):c.1395C>T (p.Pro465=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001431405]\|SP110-related disorder [RCV003968061]	likely benign	2	230178209	230178209	Human	1	name , trait , alternate_id
15169892	CV747395	single nucleotide variant	NM_080424.4(SP110):c.2100T>C (p.Gly700=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000927591]\|SP110-related disorder [RCV003933152]	likely benign	2	230169166	230169166	Human	1	name , trait , alternate_id
404995158	CV3132643	single nucleotide variant	NM_080424.4(SP110):c.21C>T (p.Ala7=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003827582]	likely benign	2	230216907	230216907	Human	1	name
127235575	CV1069258	single nucleotide variant	NM_080424.4(SP110):c.69C>T (p.Ile23=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001414498]	likely benign	2	230216859	230216859	Human	1	name
152080488	CV1580031	single nucleotide variant	NM_080424.4(SP110):c.75T>C (p.Tyr25=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002076301]	likely benign	2	230216853	230216853	Human	1	name
156393612	CV2019237	single nucleotide variant	NM_080424.4(SP110):c.42G>A (p.Gln14=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002725300]	likely benign	2	230216886	230216886	Human	1	name
156312183	CV2165582	single nucleotide variant	NM_080424.4(SP110):c.8C>T (p.Thr3Ile)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003028647]	uncertain significance	2	230216920	230216920	Human	1	name
243056617	CV2418841	single nucleotide variant	NM_080424.4(SP110):c.3G>A (p.Met1Ile)	not specified [RCV003155808]	uncertain significance	2	230216925	230216925	Human		name
597741767	CV3600557	single nucleotide variant	NM_007237.5(SP140):c.8A>C (p.Gln3Pro)	not specified [RCV004864936]	uncertain significance	2	230225852	230225852	Human		name
13496840	CV450769	single nucleotide variant	NM_080424.4(SP110):c.334= (p.Trp112=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000560633]	benign	2	230213010	230213010	Human	1	name
127296940	CV1133398	single nucleotide variant	NM_080424.4(SP110):c.294G>A (p.Thr98=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001497657]	likely benign	2	230214972	230214972	Human	1	name
152045795	CV1556170	single nucleotide variant	NM_080424.4(SP110):c.261A>G (p.Gln87=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002206907]	likely benign	2	230215005	230215005	Human	1	name
155747466	CV1775655	single nucleotide variant	NM_080424.4(SP110):c.26A>G (p.Glu9Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002303666]	uncertain significance	2	230216902	230216902	Human	1	name
156051482	CV1923930	single nucleotide variant	NM_080424.4(SP110):c.186C>T (p.Ser62=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002637953]	likely benign	2	230215080	230215080	Human	1	name
8558768	CV20577	deletion	NM_080424.4(SP110):c.40del (p.Gln14fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000005876]	pathogenic	2	230216888	230216888	Human	1	name
156358901	CV2162294	single nucleotide variant	NM_080424.4(SP110):c.150A>G (p.Glu50=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003031424]	likely benign	2	230215116	230215116	Human	1	name
11581214	CV285213	single nucleotide variant	NM_080424.4(SP110):c.237T>G (p.Ser79=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000360626]	conflicting interpretations of pathogenicity\|uncertain significance	2	230215029	230215029	Human	1	name
405091327	CV2977557	duplication	NM_080424.4(SP110):c.80dup (p.His28fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003613753]	pathogenic	2	230216847	230216848	Human	1	name
405107391	CV3010237	single nucleotide variant	NM_080424.4(SP110):c.138A>G (p.Arg46=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614751]	likely benign	2	230216790	230216790	Human	1	name
405107542	CV3025286	single nucleotide variant	NM_080424.4(SP110):c.222G>A (p.Arg74=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614844]	likely benign	2	230215044	230215044	Human	1	name
597916640	CV3767714	single nucleotide variant	NM_080424.4(SP110):c.255C>T (p.Phe85=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005114515]	likely benign	2	230215011	230215011	Human	1	name
13496362	CV450684	single nucleotide variant	NM_080424.4(SP110):c.1274= (p.Leu425=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000560306]	benign	2	230185999	230185999	Human	1	name
15189651	CV697375	single nucleotide variant	NM_007237.5(SP140):c.117T>G (p.Pro39=)	not provided [RCV000954242]	benign	2	230237140	230237140	Human		name
15175553	CV719696	single nucleotide variant	NM_080424.4(SP110):c.126C>T (p.Ile42=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003505135]	likely benign	2	230216802	230216802	Human	1	name
15101299	CV747400	single nucleotide variant	NM_080424.4(SP110):c.231C>T (p.Asn77=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001479582]	likely benign	2	230215035	230215035	Human	1	name
15195587	CV763035	single nucleotide variant	NM_080424.4(SP110):c.192G>T (p.Val64=)	not provided [RCV000933978]	likely benign	2	230215074	230215074	Human		name
15149337	CV763036	single nucleotide variant	NM_080424.4(SP110):c.189A>G (p.Arg63=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000945288]	likely benign	2	230215077	230215077	Human	1	name
126760141	CV988427	single nucleotide variant	NM_080424.4(SP110):c.23T>C (p.Met8Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001309233]	uncertain significance	2	230216905	230216905	Human	1	name
127284091	CV1069255	single nucleotide variant	NM_080424.4(SP110):c.981T>C (p.Cys327=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001412236]	likely benign	2	230202646	230202646	Human	1	name
127250422	CV1090967	single nucleotide variant	NM_080424.4(SP110):c.579T>C (p.Thr193=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001436332]	likely benign	2	230212765	230212765	Human	1	name
127293338	CV1154041	single nucleotide variant	NM_080424.4(SP110):c.519G>A (p.Ser173=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001511318]	benign	2	230212825	230212825	Human	1	name
151828052	CV1348188	single nucleotide variant	NM_080424.4(SP110):c.87G>C (p.Lys29Asn)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001870256]	uncertain significance	2	230216841	230216841	Human	1	name
151861866	CV1386355	single nucleotide variant	NM_080424.4(SP110):c.82C>T (p.His28Tyr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001905385]	uncertain significance	2	230216846	230216846	Human	1	name
151828015	CV1435588	single nucleotide variant	NM_080424.4(SP110):c.68T>C (p.Ile23Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001955399]	uncertain significance	2	230216860	230216860	Human	1	name
152031769	CV1546120	single nucleotide variant	NM_080424.4(SP110):c.351A>G (p.Thr117=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002124625]	benign	2	230212993	230212993	Human	1	name
152052127	CV1581001	single nucleotide variant	NM_080424.4(SP110):c.927A>G (p.Gln309=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002089288]	likely benign	2	230202700	230202700	Human	1	name
152102050	CV1590613	single nucleotide variant	NM_080424.4(SP110):c.780T>C (p.Asn260=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002115472]	likely benign	2	230209980	230209980	Human	1	name
152057160	CV1656496	single nucleotide variant	NM_080424.4(SP110):c.417G>A (p.Leu139=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002109683]	likely benign	2	230212927	230212927	Human	1	name
156083686	CV1956377	single nucleotide variant	NM_080424.4(SP110):c.441A>G (p.Pro147=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002569991]	likely benign	2	230212903	230212903	Human	1	name
156129123	CV2009185	single nucleotide variant	NM_080424.4(SP110):c.348C>T (p.Asp116=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002696335]	likely benign	2	230212996	230212996	Human	1	name
156122278	CV2148026	single nucleotide variant	NM_080424.4(SP110):c.420C>T (p.Pro140=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003003029]	likely benign	2	230212924	230212924	Human	1	name
156104426	CV2149313	single nucleotide variant	NM_080424.4(SP110):c.432C>A (p.Pro144=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003021166]	likely benign	2	230212912	230212912	Human	1	name
156334189	CV2267075	single nucleotide variant	NM_080424.4(SP110):c.54C>G (p.His18Gln)	Inborn genetic diseases [RCV002835551]	uncertain significance	2	230216874	230216874	Human	1	name
401856365	CV2754644	single nucleotide variant	NM_138402.6(SP140L):c.19G>C (p.Asp7His)	not specified [RCV004339317]	uncertain significance	2	230327288	230327288	Human		name
11648096	CV285206	single nucleotide variant	NM_080424.4(SP110):c.900G>A (p.Gly300=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000280283]	uncertain significance	2	230202727	230202727	Human	1	name
11595092	CV288606	single nucleotide variant	NM_080424.4(SP110):c.459G>A (p.Ala153=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000366556]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	230212885	230212885	Human	1	name
402472290	CV2909614	single nucleotide variant	NM_080424.4(SP110):c.318T>G (p.Val106=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003504863]	likely benign	2	230213026	230213026	Human	1	name
402475732	CV2923733	single nucleotide variant	NM_080424.4(SP110):c.867A>G (p.Lys289=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003505680]	likely benign	2	230208022	230208022	Human	1	name
402473121	CV2931675	single nucleotide variant	NM_080424.4(SP110):c.357C>A (p.Ile119=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003505055]	likely benign	2	230212987	230212987	Human	1	name
405105359	CV2953384	single nucleotide variant	NM_080424.4(SP110):c.606C>A (p.Ser202=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614370]	likely benign	2	230212408	230212408	Human	1	name
405108441	CV3041777	single nucleotide variant	NM_080424.4(SP110):c.507C>T (p.Ile169=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615063]	likely benign	2	230212837	230212837	Human	1	name
405110192	CV3076213	single nucleotide variant	NM_080424.4(SP110):c.918C>T (p.His306=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615433]	likely benign	2	230202709	230202709	Human	1	name
405111884	CV3080427	single nucleotide variant	NM_080424.4(SP110):c.459G>T (p.Ala153=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615499]	likely benign	2	230212885	230212885	Human	1	name
405775424	CV3333651	single nucleotide variant	NM_007237.5(SP140):c.28A>T (p.Met10Leu)	not specified [RCV004457720]	uncertain significance	2	230225872	230225872	Human		name
407510236	CV3481269	single nucleotide variant	NM_007237.5(SP140):c.46A>G (p.Asn16Asp)	not specified [RCV004672663]	likely benign	2	230225890	230225890	Human		name
407510239	CV3481270	single nucleotide variant	NM_007237.5(SP140):c.47A>G (p.Asn16Ser)	not specified [RCV004672664]	uncertain significance	2	230225891	230225891	Human		name
597970682	CV3750326	single nucleotide variant	NM_080424.4(SP110):c.70G>A (p.Ala24Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005084267]	uncertain significance	2	230216858	230216858	Human	1	name
597894508	CV3773319	single nucleotide variant	NM_080424.4(SP110):c.990G>C (p.Thr330=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005111226]	likely benign	2	230202637	230202637	Human	1	name
597913889	CV3817452	single nucleotide variant	NM_080424.4(SP110):c.507C>A (p.Ile169=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005154654]	likely benign	2	230212837	230212837	Human	1	name
597964558	CV3830542	single nucleotide variant	NM_080424.4(SP110):c.405C>T (p.Thr135=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005164682]	likely benign	2	230212939	230212939	Human	1	name
597887221	CV3839022	single nucleotide variant	NM_080424.4(SP110):c.990G>A (p.Thr330=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005179107]	likely benign	2	230202637	230202637	Human	1	name
597934054	CV3844735	single nucleotide variant	NM_080424.4(SP110):c.408A>G (p.Pro136=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005186241]	likely benign	2	230212936	230212936	Human	1	name
12901273	CV405654	single nucleotide variant	NM_080424.4(SP110):c.80T>C (p.Ile27Thr)	not provided [RCV000484300]	uncertain significance	2	230216848	230216848	Human		name
13476456	CV450553	single nucleotide variant	NM_080424.4(SP110):c.423A>G (p.Pro141=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001485635]	likely benign	2	230212921	230212921	Human	1	name
13804600	CV561044	single nucleotide variant	NM_080424.4(SP110):c.86A>T (p.Lys29Met)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000699670]	uncertain significance	2	230216842	230216842	Human	1	name
14715019	CV629534	single nucleotide variant	NM_080424.4(SP110):c.618G>A (p.Ala206=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000794627]	likely benign\|uncertain significance	2	230212396	230212396	Human	1	name
15178261	CV719694	single nucleotide variant	NM_080424.4(SP110):c.978T>G (p.Thr326=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000885021]\|not provided [RCV004708997]	benign	2	230202649	230202649	Human	1	name
15152229	CV733249	single nucleotide variant	NM_007237.5(SP140):c.909A>G (p.Lys303=)	not provided [RCV000901523]	likely benign	2	230248901	230248901	Human		name
15142522	CV747398	single nucleotide variant	NM_080424.4(SP110):c.498C>T (p.Ser166=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001405088]	likely benign	2	230212846	230212846	Human	1	name
15134297	CV747399	single nucleotide variant	NM_080424.4(SP110):c.414G>A (p.Ala138=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000920661]	likely benign	2	230212930	230212930	Human	1	name
15148272	CV763033	single nucleotide variant	NM_080424.4(SP110):c.660T>C (p.Thr220=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000945084]	likely benign	2	230212354	230212354	Human	1	name
15199560	CV763034	single nucleotide variant	NM_080424.4(SP110):c.339G>A (p.Gln113=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001438611]	likely benign	2	230213005	230213005	Human	1	name
28892388	CV884095	single nucleotide variant	NM_080424.4(SP110):c.711C>T (p.Asp237=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001139755]	conflicting interpretations of pathogenicity\|uncertain significance	2	230211510	230211510	Human	1	name
126754495	CV1003739	single nucleotide variant	NM_080424.4(SP110):c.271C>T (p.Arg91Cys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001327522]	uncertain significance	2	230214995	230214995	Human	1	name
127238849	CV1069253	single nucleotide variant	NM_080424.4(SP110):c.1602G>T (p.Ser534=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001415178]	likely benign	2	230172948	230172948	Human	1	name
127280865	CV1069254	single nucleotide variant	NM_080424.4(SP110):c.1137C>T (p.Ala379=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001410090]	likely benign	2	230186136	230186136	Human	1	name
127283184	CV1090962	single nucleotide variant	NM_080424.4(SP110):c.2112C>T (p.Ala704=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001448342]	likely benign	2	230169154	230169154	Human	1	name
127234341	CV1090963	single nucleotide variant	NM_080424.4(SP110):c.1899C>T (p.Tyr633=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001422024]	likely benign	2	230170750	230170750	Human	1	name
127269428	CV1090964	single nucleotide variant	NM_080424.4(SP110):c.1713G>A (p.Leu571=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001430275]	likely benign	2	230172168	230172168	Human	1	name
127268781	CV1090965	single nucleotide variant	NM_080424.4(SP110):c.1170A>G (p.Gln390=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001430083]	likely benign	2	230186103	230186103	Human	1	name
127260520	CV1090966	single nucleotide variant	NM_080424.4(SP110):c.1101G>A (p.Thr367=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001427862]	likely benign	2	230200913	230200913	Human	1	name
127320403	CV1112469	single nucleotide variant	NM_080424.4(SP110):c.1485T>G (p.Thr495=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001466907]	likely benign	2	230177643	230177643	Human	1	name
127334398	CV1112470	single nucleotide variant	NM_080424.4(SP110):c.1254A>G (p.Lys418=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001473546]	likely benign	2	230186019	230186019	Human	1	name
151779400	CV1380254	single nucleotide variant	NM_080424.4(SP110):c.1512C>T (p.Val504=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001950924]	likely benign	2	230177616	230177616	Human	1	name
151715056	CV1388943	single nucleotide variant	NM_080424.4(SP110):c.178C>A (p.Pro60Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002002769]	uncertain significance	2	230215088	230215088	Human	1	name
151745292	CV1502495	deletion	NM_080424.4(SP110):c.699del (p.Asp234fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001912348]	pathogenic	2	230211522	230211522	Human	1	name
151717660	CV1513301	single nucleotide variant	NM_080424.4(SP110):c.185C>G (p.Ser62Cys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001890575]	uncertain significance	2	230215081	230215081	Human	1	name
152064033	CV1575293	single nucleotide variant	NM_080424.4(SP110):c.1782C>A (p.Thr594=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002110505]	likely benign	2	230172099	230172099	Human	1	name
152077548	CV1604790	single nucleotide variant	NM_080424.4(SP110):c.1092C>T (p.Ser364=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002092427]	likely benign	2	230200922	230200922	Human	1	name
152049600	CV1615163	single nucleotide variant	NM_080424.4(SP110):c.1038G>A (p.Ser346=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002088982]	likely benign	2	230202589	230202589	Human	1	name
152075806	CV1616796	single nucleotide variant	NM_080424.4(SP110):c.1701C>G (p.Ala567=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002210578]	likely benign	2	230172849	230172849	Human	1	name
152080731	CV1623123	single nucleotide variant	NM_080424.4(SP110):c.2091C>T (p.Asp697=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002170500]	likely benign	2	230169175	230169175	Human	1	name
152154954	CV1658040	single nucleotide variant	NM_080424.4(SP110):c.1533A>G (p.Ala511=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002180006]	likely benign	2	230177595	230177595	Human	1	name
156320129	CV1872985	single nucleotide variant	NM_080424.4(SP110):c.1530C>T (p.Asn510=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003063005]	likely benign	2	230177598	230177598	Human	1	name
156410688	CV1882688	single nucleotide variant	NM_080424.4(SP110):c.1611C>T (p.Cys537=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003072171]	likely benign	2	230172939	230172939	Human	1	name
156174043	CV1927579	single nucleotide variant	NM_080424.4(SP110):c.272G>A (p.Arg91His)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002624808]	uncertain significance	2	230214994	230214994	Human	1	name
156442738	CV1948846	single nucleotide variant	NM_080424.4(SP110):c.2097C>T (p.Leu699=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003113090]	likely benign	2	230169169	230169169	Human	1	name
156314147	CV1966634	deletion	NM_080424.4(SP110):c.886del (p.Ser296fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002578856]	pathogenic	2	230208003	230208003	Human	1	name
155977867	CV1972256	single nucleotide variant	NM_080424.4(SP110):c.1959A>G (p.Glu653=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002617467]	likely benign	2	230170690	230170690	Human	1	name
155912769	CV2011128	single nucleotide variant	NM_080424.4(SP110):c.1902T>C (p.Gly634=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002681838]	likely benign	2	230170747	230170747	Human	1	name
8558767	CV20576	deletion	NM_080424.4(SP110):c.642del (p.Ser215fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000005875]	pathogenic	2	230212372	230212372	Human	1	name
156350472	CV2189606	single nucleotide variant	NM_080424.4(SP110):c.2106T>C (p.His702=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003048294]	likely benign	2	230169160	230169160	Human	1	name
156252981	CV2212496	single nucleotide variant	NM_007237.5(SP140):c.209G>A (p.Arg70His)	not specified [RCV004091382]	uncertain significance	2	230237232	230237232	Human		name
156112206	CV2228419	single nucleotide variant	NM_080424.4(SP110):c.256A>G (p.Ser86Gly)	Inborn genetic diseases [RCV002761754]	uncertain significance	2	230215010	230215010	Human	1	name
401904996	CV2819023	single nucleotide variant	NM_080424.4(SP110):c.1773A>G (p.Val591=)	not provided [RCV003440222]	likely benign	2	230172108	230172108	Human		name
11581636	CV285199	single nucleotide variant	NM_080424.4(SP110):c.1200C>T (p.Asp400=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000378214]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	230186073	230186073	Human	1	name
11645302	CV285874	single nucleotide variant	NM_080424.4(SP110):c.1173G>A (p.Val391=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000264938]	uncertain significance	2	230186100	230186100	Human	1	name
11596171	CV285890	single nucleotide variant	NM_080424.4(SP110):c.1038G>C (p.Ser346=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000379395]\|not provided [RCV004708550]	benign	2	230202589	230202589	Human	1	name
11589595	CV288166	single nucleotide variant	NM_080424.4(SP110):c.1731C>T (p.Cys577=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000311701]\|not provided [RCV004708548]\|not specified [RCV000455737]	benign\|likely benign	2	230172150	230172150	Human	1	name
11584786	CV288593	single nucleotide variant	NM_080424.4(SP110):c.1650T>C (p.Gly550=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000276529]\|not provided [RCV001618591]\|not specified [RCV000454724]	benign\|likely benign	2	230172900	230172900	Human	1	name
11584344	CV288598	single nucleotide variant	NM_080424.4(SP110):c.1464C>T (p.Cys488=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000272949]\|not provided [RCV001706545]	benign\|likely benign	2	230177664	230177664	Human	1	name
11645912	CV288610	single nucleotide variant	NM_080424.4(SP110):c.127A>G (p.Ile43Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000268064]	uncertain significance	2	230216801	230216801	Human	1	name
405031077	CV2939299	single nucleotide variant	NM_080424.4(SP110):c.1770T>C (p.His590=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614356]	likely benign	2	230172111	230172111	Human	1	name
405090552	CV2976850	deletion	NM_080424.4(SP110):c.299del (p.Tyr100fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003613696]	pathogenic	2	230214967	230214967	Human	1	name
405108790	CV3043733	single nucleotide variant	NM_080424.4(SP110):c.1341C>T (p.His447=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615137]	likely benign	2	230183579	230183579	Human	1	name
405109316	CV3056823	deletion	NM_080424.4(SP110):c.943del (p.Val315fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615244]	pathogenic	2	230202684	230202684	Human	1	name
405032040	CV3062361	single nucleotide variant	NM_080424.4(SP110):c.1653T>C (p.Thr551=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615346]	likely benign	2	230172897	230172897	Human	1	name
405031198	CV3073360	single nucleotide variant	NM_080424.4(SP110):c.1794G>A (p.Gln598=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003615419]	likely benign	2	230172087	230172087	Human	1	name
405197625	CV3146696	single nucleotide variant	NM_080424.4(SP110):c.1965C>T (p.Tyr655=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003844051]	likely benign	2	230170684	230170684	Human	1	name
405775430	CV3333652	single nucleotide variant	NM_007237.5(SP140):c.293T>C (p.Val98Ala)	not specified [RCV004457721]	uncertain significance	2	230238268	230238268	Human		name
407525413	CV3481275	single nucleotide variant	NM_007237.5(SP140):c.292G>A (p.Val98Ile)	not specified [RCV004679241]	uncertain significance	2	230238267	230238267	Human		name
597756719	CV3600547	single nucleotide variant	NM_007237.5(SP140):c.121C>A (p.Pro41Thr)	not specified [RCV004868455]	uncertain significance	2	230237144	230237144	Human		name
597912589	CV3778615	single nucleotide variant	NM_080424.4(SP110):c.1539C>T (p.Asn513=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005128960]	likely benign	2	230177589	230177589	Human	1	name
597937668	CV3787924	single nucleotide variant	NM_080424.4(SP110):c.1233G>A (p.Arg411=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005132803]	likely benign	2	230186040	230186040	Human	1	name
597849147	CV3800269	single nucleotide variant	NM_080424.4(SP110):c.1644C>T (p.Cys548=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005137361]	likely benign	2	230172906	230172906	Human	1	name
597971034	CV3802412	single nucleotide variant	NM_080424.4(SP110):c.1443A>G (p.Lys481=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005142010]	likely benign	2	230178161	230178161	Human	1	name
597872532	CV3805342	single nucleotide variant	NM_080424.4(SP110):c.1428T>C (p.Tyr476=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005148620]	likely benign	2	230178176	230178176	Human	1	name
597954325	CV3812699	single nucleotide variant	NM_080424.4(SP110):c.1311C>T (p.Ser437=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005161973]	likely benign	2	230183609	230183609	Human	1	name
597957575	CV3838520	single nucleotide variant	NM_080424.4(SP110):c.145A>G (p.Met49Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005191895]	uncertain significance	2	230216783	230216783	Human	1	name
597933463	CV3844687	single nucleotide variant	NM_080424.4(SP110):c.1114C>A (p.Arg372=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005186193]	likely benign	2	230200900	230200900	Human	1	name
597934610	CV3844742	single nucleotide variant	NM_080424.4(SP110):c.1032A>G (p.Arg344=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005186248]	likely benign	2	230202595	230202595	Human	1	name
597948173	CV3852442	single nucleotide variant	NM_080424.4(SP110):c.1014G>A (p.Ala338=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005189520]	likely benign	2	230202613	230202613	Human	1	name
14720839	CV629538	single nucleotide variant	NM_080424.4(SP110):c.271C>A (p.Arg91Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000813195]\|Inborn genetic diseases [RCV002538153]	uncertain significance	2	230214995	230214995	Human	2	name
15163506	CV719690	single nucleotide variant	NM_080424.4(SP110):c.1974A>G (p.Ala658=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000881985]	likely benign	2	230170675	230170675	Human	1	name
15177952	CV719691	single nucleotide variant	NM_080424.4(SP110):c.1413G>A (p.Ala471=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000884947]	benign	2	230178191	230178191	Human	1	name
15170560	CV733250	single nucleotide variant	NM_007237.5(SP140):c.1512G>A (p.Gly504=)	not provided [RCV000905290]	benign	2	230284359	230284359	Human		name
15155860	CV747396	single nucleotide variant	NM_080424.4(SP110):c.2061A>G (p.Leu687=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001449269]	likely benign	2	230169205	230169205	Human	1	name
15151495	CV747397	single nucleotide variant	NM_080424.4(SP110):c.1968G>A (p.Thr656=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000923687]	likely benign	2	230170681	230170681	Human	1	name
15112801	CV763031	single nucleotide variant	NM_080424.4(SP110):c.2118C>T (p.Asp706=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000939010]	likely benign	2	230169148	230169148	Human	1	name
15116611	CV763032	single nucleotide variant	NM_080424.4(SP110):c.1056T>C (p.Ile352=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002068700]	likely benign	2	230200958	230200958	Human	1	name
8573352	CV76652	deletion	NM_080424.4(SP110):c.373del (p.Thr125fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000055975]	pathogenic\|not provided	2	230212971	230212971	Human	1	name
15114035	CV781231	single nucleotide variant	NM_080424.4(SP110):c.1749A>C (p.Ser583=)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001452553]	likely benign	2	230172132	230172132	Human	1	name
8625316	CV80435	single nucleotide variant	NM_007237.4(SP140):c.1542G>A (p.Arg514=)	Malignant melanoma [RCV000060512]	not provided	2	230284389	230284389	Human		name
26895731	CV825838	duplication	NM_080424.4(SP110):c.686dup (p.Gln231fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001069727]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005029665]	pathogenic\|likely pathogenic	2	230211534	230211535	Human	1	name
26916793	CV825842	single nucleotide variant	NM_080424.4(SP110):c.209C>T (p.Thr70Ile)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001042226]	uncertain significance	2	230215057	230215057	Human	1	name
26916278	CV825843	single nucleotide variant	NM_080424.4(SP110):c.185C>T (p.Ser62Phe)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001056260]	uncertain significance	2	230215081	230215081	Human	1	name
8630229	CV85376	single nucleotide variant	NM_080424.2(SP110):c.1668C>T (p.Phe556=)	Malignant melanoma [RCV000065458]	not provided	2	230172882	230172882	Human		name
38496389	CV942642	single nucleotide variant	NM_080424.4(SP110):c.196C>T (p.His66Tyr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001226364]	uncertain significance	2	230215070	230215070	Human	1	name
126733628	CV988426	single nucleotide variant	NM_080424.4(SP110):c.293C>T (p.Thr98Met)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001294777]	uncertain significance	2	230214973	230214973	Human	1	name
126759184	CV1003737	single nucleotide variant	NM_080424.4(SP110):c.848G>T (p.Cys283Phe)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001317992]\|Inborn genetic diseases [RCV005278817]	uncertain significance	2	230208041	230208041	Human	2	name
126738069	CV1003738	single nucleotide variant	NM_080424.4(SP110):c.635A>G (p.Glu212Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001324880]	uncertain significance	2	230212379	230212379	Human	1	name
126729819	CV1019594	duplication	NM_080424.4(SP110):c.1631dup (p.Gln545fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003106862]	pathogenic	2	230172918	230172919	Human	1	name
126729825	CV1019595	single nucleotide variant	NM_080424.4(SP110):c.718G>C (p.Glu240Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001333256]	uncertain significance	2	230211503	230211503	Human	1	name
126755393	CV1024208	single nucleotide variant	NM_080424.4(SP110):c.911C>T (p.Ser304Phe)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001339035]	uncertain significance	2	230202716	230202716	Human	1	name
126738065	CV1024209	single nucleotide variant	NM_080424.4(SP110):c.826A>G (p.Lys276Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001350432]	uncertain significance	2	230209934	230209934	Human	1	name
126771031	CV1024210	single nucleotide variant	NM_080424.4(SP110):c.674G>A (p.Ser225Asn)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001344803]	uncertain significance	2	230211547	230211547	Human	1	name
126765417	CV1024211	single nucleotide variant	NM_080424.4(SP110):c.401A>G (p.His134Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001342022]	uncertain significance	2	230212943	230212943	Human	1	name
126912559	CV1041140	single nucleotide variant	NM_080424.4(SP110):c.407C>T (p.Pro136Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001369778]	uncertain significance	2	230212937	230212937	Human	1	name
126923317	CV1041141	single nucleotide variant	NM_080424.4(SP110):c.338A>G (p.Gln113Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001365701]	uncertain significance	2	230213006	230213006	Human	1	name
151846442	CV1368457	single nucleotide variant	NM_080424.4(SP110):c.413C>T (p.Ala138Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001936771]\|Inborn genetic diseases [RCV002562207]	uncertain significance	2	230212931	230212931	Human	2	name
151767180	CV1393945	single nucleotide variant	NM_080424.4(SP110):c.933G>C (p.Lys311Asn)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002008497]	uncertain significance	2	230202694	230202694	Human	1	name
151799602	CV1396556	single nucleotide variant	NM_080424.4(SP110):c.436C>T (p.Gln146Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001917590]	pathogenic	2	230212908	230212908	Human	1	name
151744526	CV1404720	single nucleotide variant	NM_080424.4(SP110):c.513T>G (p.Ser171Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002022668]	uncertain significance	2	230212831	230212831	Human	1	name
151842552	CV1418267	single nucleotide variant	NM_080424.4(SP110):c.362T>C (p.Leu121Pro)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001903022]	uncertain significance	2	230212982	230212982	Human	1	name
151834648	CV1419910	single nucleotide variant	NM_080424.4(SP110):c.671C>G (p.Ala224Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001977003]	uncertain significance	2	230211550	230211550	Human	1	name
151840609	CV1423614	single nucleotide variant	NM_080424.4(SP110):c.317T>C (p.Val106Ala)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001977642]	uncertain significance	2	230213027	230213027	Human	1	name
151826755	CV1426062	deletion	NM_080424.4(SP110):c.1933del (p.Leu645fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001993307]	pathogenic	2	230170716	230170716	Human	1	name
151856178	CV1449000	duplication	NM_080424.4(SP110):c.2079dup (p.Asp694fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001979548]	uncertain significance	2	230169186	230169187	Human	1	name
151828755	CV1453247	single nucleotide variant	NM_080424.4(SP110):c.569G>T (p.Gly190Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002050516]	uncertain significance	2	230212775	230212775	Human	1	name
151865559	CV1495133	single nucleotide variant	NM_080424.4(SP110):c.463A>G (p.Arg155Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001980672]	uncertain significance	2	230212881	230212881	Human	1	name
151812190	CV1497933	single nucleotide variant	NM_080424.4(SP110):c.740G>A (p.Gly247Asp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001953935]	uncertain significance	2	230211481	230211481	Human	1	name
152166829	CV1666453	single nucleotide variant	NM_080424.4(SP110):c.644G>T (p.Ser215Ile)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002204539]	uncertain significance	2	230212370	230212370	Human	1	name
10042530	CV187109	single nucleotide variant	NM_080424.4(SP110):c.877A>T (p.Lys293Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000169676]	likely pathogenic	2	230208012	230208012	Human	1	name
156355123	CV1921126	single nucleotide variant	NM_080424.4(SP110):c.671C>T (p.Ala224Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002632274]	uncertain significance	2	230211550	230211550	Human	1	name
155968180	CV1967930	single nucleotide variant	NM_080424.4(SP110):c.374C>G (p.Thr125Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002617053]	uncertain significance	2	230212970	230212970	Human	1	name
156416237	CV1976475	single nucleotide variant	NM_080424.4(SP110):c.646C>G (p.Leu216Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002589596]	uncertain significance	2	230212368	230212368	Human	1	name
156158862	CV1984253	single nucleotide variant	NM_080424.4(SP110):c.728A>G (p.His243Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002642329]	uncertain significance	2	230211493	230211493	Human	1	name
156031582	CV2036951	single nucleotide variant	NM_080424.4(SP110):c.404C>T (p.Thr135Ile)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002781132]	uncertain significance	2	230212940	230212940	Human	1	name
156007933	CV2042534	single nucleotide variant	NM_080424.4(SP110):c.665A>G (p.Gln222Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002794939]	uncertain significance	2	230212349	230212349	Human	1	name
156019487	CV2046942	single nucleotide variant	NM_080424.4(SP110):c.662T>C (p.Val221Ala)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002780577]	uncertain significance	2	230212352	230212352	Human	1	name
156266752	CV2059641	single nucleotide variant	NM_080424.4(SP110):c.814C>A (p.Pro272Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002806519]	uncertain significance	2	230209946	230209946	Human	1	name
156286007	CV2061806	single nucleotide variant	NM_080424.4(SP110):c.880A>G (p.Lys294Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002833009]	uncertain significance	2	230208009	230208009	Human	1	name
156225465	CV2080785	single nucleotide variant	NM_080424.4(SP110):c.463A>T (p.Arg155Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002876034]	pathogenic	2	230212881	230212881	Human	1	name
156149573	CV2091019	single nucleotide variant	NM_080424.4(SP110):c.802G>T (p.Val268Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002890607]	uncertain significance	2	230209958	230209958	Human	1	name
155994025	CV2112896	single nucleotide variant	NM_080424.4(SP110):c.470G>A (p.Ser157Asn)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002947469]	uncertain significance	2	230212874	230212874	Human	1	name
156313561	CV2120178	single nucleotide variant	NM_080424.4(SP110):c.719A>G (p.Glu240Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002962759]	uncertain significance	2	230211502	230211502	Human	1	name
156101917	CV2164415	single nucleotide variant	NM_080424.4(SP110):c.470G>C (p.Ser157Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003038616]	uncertain significance	2	230212874	230212874	Human	1	name
156290580	CV2182920	single nucleotide variant	NM_080424.4(SP110):c.473A>G (p.Glu158Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003027660]	uncertain significance	2	230212871	230212871	Human	1	name
156150100	CV2213044	single nucleotide variant	NM_007237.5(SP140):c.424C>T (p.Pro142Ser)	not specified [RCV004091620]	uncertain significance	2	230241421	230241421	Human		name
155978034	CV2226513	single nucleotide variant	NM_080424.4(SP110):c.398T>C (p.Leu133Pro)	Inborn genetic diseases [RCV002732213]	uncertain significance	2	230212946	230212946	Human	1	name
156016177	CV2266276	single nucleotide variant	NM_007237.5(SP140):c.757G>A (p.Gly253Arg)	not specified [RCV004129109]	likely benign	2	230247930	230247930	Human		name
156337113	CV2267180	single nucleotide variant	NM_138402.6(SP140L):c.112T>C (p.Phe38Leu)	not specified [RCV004133868]	uncertain significance	2	230357809	230357809	Human		name
156264668	CV2388969	single nucleotide variant	NM_001080391.2(SP100):c.14G>T (p.Gly5Val)	not specified [RCV004241968]	uncertain significance	2	230416310	230416310	Human		name
329360898	CV2463094	single nucleotide variant	NM_138402.6(SP140L):c.281A>T (p.Asp94Val)	not specified [RCV004272900]	uncertain significance	2	230358974	230358974	Human		name
401738511	CV2676309	single nucleotide variant	NM_007237.5(SP140):c.545T>G (p.Leu182Trp)	not specified [RCV004286344]	uncertain significance	2	230243785	230243785	Human		name
401722884	CV2677126	single nucleotide variant	NM_007237.5(SP140):c.469T>A (p.Leu157Ile)	not specified [RCV004295761]	uncertain significance	2	230241466	230241466	Human		name
401740447	CV2679728	single nucleotide variant	NM_007237.5(SP140):c.442G>T (p.Val148Leu)	not specified [RCV004282196]	uncertain significance	2	230241439	230241439	Human		name
401735709	CV2692178	single nucleotide variant	NM_007237.5(SP140):c.998A>G (p.Glu333Gly)	not specified [RCV004301876]	uncertain significance	2	230251002	230251002	Human		name
401884175	CV2762765	single nucleotide variant	NM_080424.4(SP110):c.313C>T (p.Arg105Cys)	Inborn genetic diseases [RCV003351209]	uncertain significance	2	230214953	230214953	Human	1	name
401865254	CV2768727	single nucleotide variant	NM_080424.4(SP110):c.753G>C (p.Glu251Asp)	Inborn genetic diseases [RCV003359631]	uncertain significance	2	230210007	230210007	Human	1	name
401875194	CV2791164	single nucleotide variant	NM_080424.4(SP110):c.901A>G (p.Thr301Ala)	Inborn genetic diseases [RCV003362604]	likely benign	2	230202726	230202726	Human	1	name
401919498	CV2819024	single nucleotide variant	NM_080424.4(SP110):c.455G>A (p.Cys152Tyr)	not provided [RCV003431167]	uncertain significance	2	230212889	230212889	Human		name
401919500	CV2819025	single nucleotide variant	NM_138402.6(SP140L):c.1320G>A (p.Pro440=)	not provided [RCV003431168]	likely benign	2	230400961	230400961	Human		name
11579431	CV285212	single nucleotide variant	NM_080424.4(SP110):c.376G>A (p.Gly126Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000303499]\|not provided [RCV004708552]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	230212968	230212968	Human	1	name
11593607	CV285891	single nucleotide variant	NM_080424.4(SP110):c.619G>A (p.Glu207Lys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000350537]\|not provided [RCV004710881]\|not specified [RCV000455434]	benign\|likely benign	2	230212395	230212395	Human	1	name
11592100	CV288178	single nucleotide variant	NM_080424.4(SP110):c.895G>A (p.Gly299Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000335389]\|not provided [RCV001536853]\|not specified [RCV000454767]	benign	2	230207994	230207994	Human	1	name
11587163	CV288179	single nucleotide variant	NM_080424.4(SP110):c.617C>T (p.Ala206Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000293290]\|not provided [RCV001691957]\|not specified [RCV000456057]	benign\|likely benign	2	230212397	230212397	Human	1	name
11583131	CV288180	single nucleotide variant	NM_080424.4(SP110):c.383C>T (p.Ala128Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000264680]\|not provided [RCV004709907]\|not specified [RCV000455477]	benign	2	230212961	230212961	Human	1	name
11597832	CV288602	single nucleotide variant	NM_080424.4(SP110):c.550C>T (p.Pro184Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000398685]	uncertain significance	2	230212794	230212794	Human	1	name
405092132	CV2986019	single nucleotide variant	NM_080424.4(SP110):c.832A>G (p.Lys278Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003613814]	uncertain significance	2	230208057	230208057	Human	1	name
405225212	CV3158927	single nucleotide variant	NM_080424.4(SP110):c.500A>G (p.Asp167Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003864229]	uncertain significance	2	230212844	230212844	Human	1	name
405775352	CV3333639	single nucleotide variant	NM_080424.4(SP110):c.652A>G (p.Thr218Ala)	Inborn genetic diseases [RCV004457708]	likely benign	2	230212362	230212362	Human	1	name
405775359	CV3333640	single nucleotide variant	NM_080424.4(SP110):c.721A>G (p.Met241Val)	Inborn genetic diseases [RCV004457709]	uncertain significance	2	230211500	230211500	Human	1	name
405775365	CV3333641	single nucleotide variant	NM_080424.4(SP110):c.832A>C (p.Lys278Gln)	Inborn genetic diseases [RCV004457710]	uncertain significance	2	230208057	230208057	Human	1	name
405775436	CV3333653	single nucleotide variant	NM_007237.5(SP140):c.324G>T (p.Trp108Cys)	not specified [RCV004457722]	uncertain significance	2	230238299	230238299	Human		name
405775448	CV3333655	single nucleotide variant	NM_007237.5(SP140):c.362T>C (p.Met121Thr)	not specified [RCV004457724]	uncertain significance	2	230238337	230238337	Human		name
405775454	CV3333656	single nucleotide variant	NM_007237.5(SP140):c.793C>G (p.Pro265Ala)	not specified [RCV004457725]	uncertain significance	2	230247966	230247966	Human		name
405775473	CV3333659	single nucleotide variant	NM_138402.6(SP140L):c.235C>T (p.Arg79Cys)	not specified [RCV004457728]	uncertain significance	2	230357932	230357932	Human		name
407510233	CV3481268	single nucleotide variant	NM_007237.5(SP140):c.614C>T (p.Ala205Val)	not specified [RCV004672662]	uncertain significance	2	230245030	230245030	Human		name
407510245	CV3481272	single nucleotide variant	NM_007237.5(SP140):c.762G>A (p.Met254Ile)	not specified [RCV004672666]	uncertain significance	2	230247935	230247935	Human		name
407510249	CV3481273	single nucleotide variant	NM_007237.5(SP140):c.682A>G (p.Ile228Val)	not specified [RCV004672667]	uncertain significance	2	230245880	230245880	Human		name
407510252	CV3481274	single nucleotide variant	NM_007237.5(SP140):c.840A>T (p.Lys280Asn)	not specified [RCV004672668]	uncertain significance	2	230248013	230248013	Human		name
407510263	CV3481279	single nucleotide variant	NM_138402.6(SP140L):c.217C>T (p.Pro73Ser)	not specified [RCV004672672]	uncertain significance	2	230357914	230357914	Human		name
597730727	CV3600543	single nucleotide variant	NM_080424.4(SP110):c.748C>G (p.Pro250Ala)	Inborn genetic diseases [RCV004963959]	uncertain significance	2	230211473	230211473	Human	1	name
597756715	CV3600545	single nucleotide variant	NM_007237.5(SP140):c.752G>A (p.Ser251Asn)	not specified [RCV004868454]	uncertain significance	2	230247925	230247925	Human		name
597741750	CV3600548	single nucleotide variant	NM_007237.5(SP140):c.683T>C (p.Ile228Thr)	not specified [RCV004864932]	uncertain significance	2	230245881	230245881	Human		name
597756724	CV3600549	single nucleotide variant	NM_007237.5(SP140):c.896C>A (p.Thr299Asn)	not specified [RCV004868456]	uncertain significance	2	230248888	230248888	Human		name
597756728	CV3600550	single nucleotide variant	NM_007237.5(SP140):c.466A>G (p.Arg156Gly)	not specified [RCV004868457]	uncertain significance	2	230241463	230241463	Human		name
597756733	CV3600551	single nucleotide variant	NM_007237.5(SP140):c.604C>T (p.Leu202Phe)	not specified [RCV004868458]	uncertain significance	2	230245020	230245020	Human		name
597741759	CV3600554	single nucleotide variant	NM_007237.5(SP140):c.467G>A (p.Arg156Lys)	not specified [RCV004864934]	uncertain significance	2	230241464	230241464	Human		name
597756742	CV3600555	single nucleotide variant	NM_007237.5(SP140):c.436A>T (p.Asn146Tyr)	not specified [RCV004868460]	uncertain significance	2	230241433	230241433	Human		name
597756751	CV3600561	single nucleotide variant	NM_138402.6(SP140L):c.241C>T (p.Arg81Trp)	not specified [RCV004868462]	uncertain significance	2	230357938	230357938	Human		name
597741781	CV3600565	single nucleotide variant	NM_138402.6(SP140L):c.165G>T (p.Lys55Asn)	not specified [RCV004864939]	uncertain significance	2	230357862	230357862	Human		name
597756768	CV3600566	single nucleotide variant	NM_138402.6(SP140L):c.238G>A (p.Asp80Asn)	not specified [RCV004868466]	uncertain significance	2	230357935	230357935	Human		name
597756786	CV3600570	single nucleotide variant	NM_138402.6(SP140L):c.236G>A (p.Arg79His)	not specified [RCV004868470]	uncertain significance	2	230357933	230357933	Human		name
12896946	CV389491	single nucleotide variant	NM_080424.4(SP110):c.334T>C (p.Trp112Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001517856]\|not provided [RCV004708904]\|not specified [RCV000456033]	benign	2	230213010	230213010	Human	1	name
598247722	CV3922481	single nucleotide variant	NM_007237.5(SP140):c.728C>T (p.Pro243Leu)	not specified [RCV005277337]	uncertain significance	2	230245926	230245926	Human		name
598247728	CV3922482	single nucleotide variant	NM_007237.5(SP140):c.710A>T (p.Glu237Val)	not specified [RCV005277338]	uncertain significance	2	230245908	230245908	Human		name
598247761	CV3922487	single nucleotide variant	NM_138402.6(SP140L):c.202A>G (p.Ile68Val)	not specified [RCV005277343]	uncertain significance	2	230357899	230357899	Human		name
13612375	CV517876	single nucleotide variant	NM_080424.4(SP110):c.938A>G (p.Lys313Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642274]	uncertain significance	2	230202689	230202689	Human	1	name
13612367	CV517879	single nucleotide variant	NM_080424.4(SP110):c.934C>G (p.Leu312Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642272]	uncertain significance	2	230202693	230202693	Human	1	name
13820635	CV561026	duplication	NM_080424.4(SP110):c.1395dup (p.Val466fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000697004]	pathogenic	2	230178208	230178209	Human	1	name
13809065	CV561040	single nucleotide variant	NM_080424.4(SP110):c.929A>C (p.Lys310Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000687577]\|Inborn genetic diseases [RCV002544782]	uncertain significance	2	230202698	230202698	Human	2	name
13820755	CV576099	single nucleotide variant	NM_080424.4(SP110):c.342C>A (p.Ser114Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000709809]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002532895]	uncertain significance\|not provided	2	230213002	230213002	Human	1	name
14734499	CV629532	single nucleotide variant	NM_080424.4(SP110):c.952G>C (p.Val318Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000819135]\|Inborn genetic diseases [RCV005278672]	uncertain significance	2	230202675	230202675	Human	2	name
14730775	CV629533	single nucleotide variant	NM_080424.4(SP110):c.842A>G (p.Lys281Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000817545]	uncertain significance	2	230208047	230208047	Human	1	name
14737193	CV629535	single nucleotide variant	NM_080424.4(SP110):c.544C>T (p.Pro182Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000803955]	uncertain significance	2	230212800	230212800	Human	1	name
14723396	CV629536	single nucleotide variant	NM_080424.4(SP110):c.518C>T (p.Ser173Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000814329]	uncertain significance	2	230212826	230212826	Human	1	name
14737992	CV629537	single nucleotide variant	NM_080424.4(SP110):c.335G>A (p.Trp112Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000804309]\|Inborn genetic diseases [RCV002534778]	likely benign\|uncertain significance	2	230213009	230213009	Human	2	name
15178121	CV719695	single nucleotide variant	NM_080424.4(SP110):c.745A>G (p.Met249Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000884986]\|not provided [RCV004708996]	benign	2	230211476	230211476	Human	1	name
15137553	CV733248	single nucleotide variant	NM_080424.4(SP110):c.451C>T (p.Pro151Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000898823]	likely benign	2	230212893	230212893	Human	1	name
26886278	CV825836	single nucleotide variant	NM_080424.4(SP110):c.877A>G (p.Lys293Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001065961]	uncertain significance	2	230208012	230208012	Human	1	name
26905155	CV825837	single nucleotide variant	NM_080424.4(SP110):c.725C>T (p.Pro242Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001036887]	uncertain significance	2	230211496	230211496	Human	1	name
26885559	CV825839	single nucleotide variant	NM_080424.4(SP110):c.617C>A (p.Ala206Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001065519]	uncertain significance	2	230212397	230212397	Human	1	name
26891195	CV825840	single nucleotide variant	NM_080424.4(SP110):c.431C>A (p.Pro144His)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001046339]	uncertain significance	2	230212913	230212913	Human	1	name
26914348	CV825841	single nucleotide variant	NM_080424.4(SP110):c.370C>T (p.Pro124Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001040603]	uncertain significance	2	230212974	230212974	Human	1	name
8630230	CV85377	single nucleotide variant	NM_007237.4(SP140):c.538G>A (p.Glu180Lys)	Malignant melanoma [RCV000065459]	not provided	2	230243778	230243778	Human		name
8630231	CV85378	single nucleotide variant	NM_007237.4(SP140):c.709G>A (p.Glu237Lys)	Malignant melanoma [RCV000065460]	not provided	2	230245907	230245907	Human		name
8630234	CV85381	single nucleotide variant	NM_138402.4(SP140L):c.1302G>A (p.Val434=)	Malignant melanoma [RCV000065463]	not provided	2	230400231	230400231	Human		name
28899231	CV884093	single nucleotide variant	NM_080424.4(SP110):c.989C>T (p.Thr330Met)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142280]\|not provided [RCV004711534]	benign\|likely benign	2	230202638	230202638	Human	1	name
28885510	CV884094	single nucleotide variant	NM_080424.4(SP110):c.848G>C (p.Cys283Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137537]	uncertain significance	2	230208041	230208041	Human	1	name
28894481	CV884096	single nucleotide variant	NM_080424.4(SP110):c.386A>G (p.Glu129Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001140526]	uncertain significance	2	230212958	230212958	Human	1	name
28894485	CV884097	single nucleotide variant	NM_080424.4(SP110):c.340A>G (p.Ser114Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001140527]\|Inborn genetic diseases [RCV004032708]	uncertain significance	2	230213004	230213004	Human	2	name
38461970	CV931175	single nucleotide variant	NM_080424.4(SP110):c.751G>C (p.Glu251Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001212123]	uncertain significance	2	230211470	230211470	Human	1	name
38475696	CV942641	single nucleotide variant	NM_080424.4(SP110):c.328T>C (p.Tyr110His)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001232743]\|Inborn genetic diseases [RCV004033177]\|not provided [RCV004695242]	uncertain significance	2	230213016	230213016	Human	2	name
38464152	CV952964	deletion	NM_080424.4(SP110):c.1691del (p.Pro564fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001247352]	pathogenic	2	230172859	230172859	Human	1	name
126740791	CV1003734	single nucleotide variant	NM_080424.4(SP110):c.2099G>A (p.Gly700Asp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001325255]	uncertain significance	2	230169167	230169167	Human	1	name
126770437	CV1003735	single nucleotide variant	NM_080424.4(SP110):c.1396G>A (p.Val466Met)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001322569]\|Inborn genetic diseases [RCV003346464]	uncertain significance	2	230178208	230178208	Human	2	name
126751861	CV1003736	single nucleotide variant	NM_080424.4(SP110):c.1219G>C (p.Glu407Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001327001]	uncertain significance	2	230186054	230186054	Human	1	name
126742279	CV1016019	single nucleotide variant	NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001329909]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005023055]	pathogenic\|likely pathogenic	2	230170758	230170758	Human	1	name
126742274	CV1016020	single nucleotide variant	NM_080424.4(SP110):c.1448G>A (p.Gly483Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001329908]	uncertain significance	2	230177680	230177680	Human	1	name
126759434	CV1024205	single nucleotide variant	NM_080424.4(SP110):c.2135T>G (p.Leu712Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001340128]	uncertain significance	2	230169131	230169131	Human	1	name
126752755	CV1024206	single nucleotide variant	NM_080424.4(SP110):c.1621T>G (p.Cys541Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001338483]	uncertain significance	2	230172929	230172929	Human	1	name
126753196	CV1024207	single nucleotide variant	NM_080424.4(SP110):c.1553T>A (p.Ile518Lys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001338557]	uncertain significance	2	230177575	230177575	Human	1	name
126916499	CV1041136	single nucleotide variant	NM_080424.4(SP110):c.1400C>A (p.Thr467Asn)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001360614]\|Inborn genetic diseases [RCV005278841]	uncertain significance	2	230178204	230178204	Human	2	name
126922075	CV1041137	single nucleotide variant	NM_080424.4(SP110):c.1262G>A (p.Arg421Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001364240]	uncertain significance	2	230186011	230186011	Human	1	name
126920967	CV1041138	single nucleotide variant	NM_080424.4(SP110):c.1115G>A (p.Arg372Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001363195]	uncertain significance	2	230200899	230200899	Human	1	name
126921023	CV1041139	single nucleotide variant	NM_080424.4(SP110):c.1031G>C (p.Arg344Pro)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001374154]	uncertain significance	2	230202596	230202596	Human	1	name
150489745	CV1208498	single nucleotide variant	NM_080424.4(SP110):c.1660C>T (p.Arg554Ter)	not provided [RCV001592359]	likely pathogenic	2	230172890	230172890	Human		name
150546833	CV1313918	single nucleotide variant	NM_080424.4(SP110):c.1114C>T (p.Arg372Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001785011]	pathogenic	2	230200900	230200900	Human	1	name
150544998	CV1315372	single nucleotide variant	NM_080424.4(SP110):c.1984C>T (p.Arg662Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001783789]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	230170665	230170665	Human	1	name
151757419	CV1340390	single nucleotide variant	NM_080424.4(SP110):c.2114A>G (p.Asn705Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001913597]\|Inborn genetic diseases [RCV003247142]	likely benign\|uncertain significance	2	230169152	230169152	Human	2	name
151848175	CV1352984	single nucleotide variant	NM_080424.4(SP110):c.1019C>T (p.Thr340Ile)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001922410]	uncertain significance	2	230202608	230202608	Human	1	name
151735522	CV1354726	single nucleotide variant	NM_080424.4(SP110):c.1993C>A (p.Arg665Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001892711]	uncertain significance	2	230170656	230170656	Human	1	name
151812677	CV1367574	single nucleotide variant	NM_080424.4(SP110):c.1067C>T (p.Ser356Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001878427]	uncertain significance	2	230200947	230200947	Human	1	name
151784809	CV1374583	single nucleotide variant	NM_080424.4(SP110):c.1760A>G (p.Gln587Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001875708]	uncertain significance	2	230172121	230172121	Human	1	name
151812000	CV1376794	single nucleotide variant	NM_080424.4(SP110):c.1733G>A (p.Arg578Lys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001900046]	uncertain significance	2	230172148	230172148	Human	1	name
151851191	CV1378100	single nucleotide variant	NM_080424.4(SP110):c.1900G>C (p.Gly634Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002016607]	uncertain significance	2	230170749	230170749	Human	1	name
151759430	CV1391893	single nucleotide variant	NM_080424.4(SP110):c.1478A>T (p.Asp493Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002044098]	uncertain significance	2	230177650	230177650	Human	1	name
151825734	CV1396068	single nucleotide variant	NM_080424.4(SP110):c.1757A>G (p.Gln586Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001934571]\|Inborn genetic diseases [RCV004968378]	uncertain significance	2	230172124	230172124	Human	2	name
151772523	CV1402691	single nucleotide variant	NM_080424.4(SP110):c.1343G>A (p.Arg448Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001896481]\|Inborn genetic diseases [RCV002553637]	likely benign\|uncertain significance	2	230183577	230183577	Human	2	name
151839475	CV1415223	duplication	NM_080424.4(SP110):c.1362dup (p.Asp455Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001921359]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005023463]	pathogenic\|likely pathogenic	2	230178241	230178242	Human	1	name
151723755	CV1425139	single nucleotide variant	NM_080424.4(SP110):c.1991T>C (p.Met664Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001891461]	uncertain significance	2	230170658	230170658	Human	1	name
151826198	CV1425852	single nucleotide variant	NM_080424.4(SP110):c.1342C>T (p.Arg448Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001993256]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005025512]	pathogenic\|likely pathogenic	2	230183578	230183578	Human	1	name
151871977	CV1429929	single nucleotide variant	NM_080424.4(SP110):c.2038T>C (p.Phe680Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002019074]	uncertain significance	2	230169228	230169228	Human	1	name
151781426	CV1446611	single nucleotide variant	NM_080424.4(SP110):c.1373A>T (p.Asp458Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002046203]	uncertain significance	2	230178231	230178231	Human	1	name
151765116	CV1447735	single nucleotide variant	NM_080424.4(SP110):c.1106G>C (p.Ser369Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001895776]	uncertain significance	2	230200908	230200908	Human	1	name
151833275	CV1447995	single nucleotide variant	NM_080424.4(SP110):c.1649G>A (p.Gly550Asp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001920698]\|Inborn genetic diseases [RCV003348618]	likely benign\|uncertain significance	2	230172901	230172901	Human	2	name
151760531	CV1448565	single nucleotide variant	NM_080424.4(SP110):c.1412C>T (p.Ala471Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001949085]	uncertain significance	2	230178192	230178192	Human	1	name
151714617	CV1457760	single nucleotide variant	NM_080424.4(SP110):c.1708A>G (p.Met570Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001964976]	uncertain significance	2	230172173	230172173	Human	1	name
151875238	CV1466755	single nucleotide variant	NM_080424.4(SP110):c.1054A>G (p.Ile352Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001885774]\|Inborn genetic diseases [RCV002552191]	uncertain significance	2	230200960	230200960	Human	2	name
151795430	CV1470927	single nucleotide variant	NM_080424.4(SP110):c.1639C>G (p.Leu547Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001952435]	uncertain significance	2	230172911	230172911	Human	1	name
151828240	CV1489059	single nucleotide variant	NM_080424.4(SP110):c.1031G>A (p.Arg344Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001934800]\|Inborn genetic diseases [RCV004039831]	likely benign\|uncertain significance	2	230202596	230202596	Human	2	name
151721375	CV1489460	single nucleotide variant	NM_080424.4(SP110):c.1531G>A (p.Ala511Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001891155]	uncertain significance	2	230177597	230177597	Human	1	name
151779290	CV1496826	single nucleotide variant	NM_080424.4(SP110):c.1661G>A (p.Arg554Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001930279]	uncertain significance	2	230172889	230172889	Human	1	name
151863941	CV1498640	single nucleotide variant	NM_080424.4(SP110):c.1102C>G (p.Pro368Ala)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001980487]	uncertain significance	2	230200912	230200912	Human	1	name
151753382	CV1508666	single nucleotide variant	NM_080424.4(SP110):c.1480G>A (p.Gly494Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001986519]	uncertain significance	2	230177648	230177648	Human	1	name
151788082	CV1510163	single nucleotide variant	NM_080424.4(SP110):c.1201G>A (p.Asp401Asn)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001916539]	uncertain significance	2	230186072	230186072	Human	1	name
151788170	CV1510193	single nucleotide variant	NM_080424.4(SP110):c.1892G>C (p.Arg631Pro)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001916549]	uncertain significance	2	230170757	230170757	Human	1	name
156410744	CV1882723	single nucleotide variant	NM_080424.4(SP110):c.1067C>A (p.Ser356Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003072193]	pathogenic	2	230200947	230200947	Human	1	name
156361077	CV1900505	single nucleotide variant	NM_080424.4(SP110):c.2116G>A (p.Asp706Asn)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002581728]	uncertain significance	2	230169150	230169150	Human	1	name
156216165	CV1903351	single nucleotide variant	NM_080424.4(SP110):c.1627G>T (p.Gly543Trp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003084806]	uncertain significance	2	230172923	230172923	Human	1	name
156359657	CV1904263	single nucleotide variant	NM_080424.4(SP110):c.1580A>G (p.Glu527Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002581638]	uncertain significance	2	230177548	230177548	Human	1	name
156028527	CV1906958	single nucleotide variant	NM_080424.4(SP110):c.1645T>C (p.Cys549Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003100539]	uncertain significance	2	230172905	230172905	Human	1	name
155985657	CV1907612	single nucleotide variant	NM_080424.4(SP110):c.1340A>G (p.His447Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003097588]\|Inborn genetic diseases [RCV005266540]	uncertain significance	2	230183580	230183580	Human	2	name
156298703	CV1919831	single nucleotide variant	NM_080424.4(SP110):c.2041G>C (p.Gly681Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002599064]	uncertain significance	2	230169225	230169225	Human	1	name
156368844	CV1919933	single nucleotide variant	NM_080424.4(SP110):c.1353A>T (p.Lys451Asn)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002603020]\|Inborn genetic diseases [RCV002603021]	uncertain significance	2	230178251	230178251	Human	2	name
156069767	CV1928068	single nucleotide variant	NM_080424.4(SP110):c.2012A>G (p.His671Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002638563]	uncertain significance	2	230170637	230170637	Human	1	name
156446055	CV1951138	single nucleotide variant	NM_080424.4(SP110):c.1556G>A (p.Arg519His)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003117018]\|Inborn genetic diseases [RCV004963551]	uncertain significance	2	230177572	230177572	Human	2	name
156344543	CV1958102	single nucleotide variant	NM_080424.4(SP110):c.1339C>G (p.His447Asp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002580697]\|Inborn genetic diseases [RCV004673683]	uncertain significance	2	230183581	230183581	Human	2	name
156412579	CV1968735	single nucleotide variant	NM_080424.4(SP110):c.2026A>G (p.Lys676Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002608583]	uncertain significance	2	230170623	230170623	Human	1	name
156420011	CV1979356	single nucleotide variant	NM_080424.4(SP110):c.1126C>G (p.Gln376Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002613260]	uncertain significance	2	230200888	230200888	Human	1	name
156128308	CV1993154	single nucleotide variant	NM_080424.4(SP110):c.1179T>G (p.Asp393Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002657815]\|Inborn genetic diseases [RCV002623212]	uncertain significance	2	230186094	230186094	Human	2	name
156041590	CV2026407	single nucleotide variant	NM_080424.4(SP110):c.1468C>T (p.Arg490Trp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002736205]\|Inborn genetic diseases [RCV004966074]	uncertain significance	2	230177660	230177660	Human	2	name
8558769	CV20578	single nucleotide variant	NM_080424.4(SP110):c.1274T>C (p.Leu425Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001517855]\|Mycobacterium tuberculosis, susceptibility to [RCV000005877]\|not provided [RCV004707848]\|not specified [RCV000455916]	risk factor\|benign\|uncertain significance	2	230185999	230185999	Human	2	name
156024877	CV2112347	single nucleotide variant	NM_080424.4(SP110):c.1225A>T (p.Met409Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002909788]	uncertain significance	2	230186048	230186048	Human	1	name
156212890	CV2114571	single nucleotide variant	NM_080424.4(SP110):c.1553T>C (p.Ile518Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002932134]\|Inborn genetic diseases [RCV003167938]	uncertain significance	2	230177575	230177575	Human	2	name
156190221	CV2144965	single nucleotide variant	NM_080424.4(SP110):c.2059T>G (p.Leu687Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003005977]	uncertain significance	2	230169207	230169207	Human	1	name
156350280	CV2147049	single nucleotide variant	NM_080424.4(SP110):c.1751G>A (p.Gly584Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003030817]	uncertain significance	2	230172130	230172130	Human	1	name
156100421	CV2153031	single nucleotide variant	NM_080424.4(SP110):c.1195A>C (p.Lys399Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003021030]	uncertain significance	2	230186078	230186078	Human	1	name
156236139	CV2158109	single nucleotide variant	NM_080424.4(SP110):c.1052T>C (p.Ile351Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003025832]	uncertain significance	2	230200962	230200962	Human	1	name
156198909	CV2169608	single nucleotide variant	NM_080424.4(SP110):c.2072T>C (p.Phe691Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003041902]	uncertain significance	2	230169194	230169194	Human	1	name
156085483	CV2184445	single nucleotide variant	NM_080424.4(SP110):c.1784T>G (p.Leu595Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003054173]	uncertain significance	2	230172097	230172097	Human	1	name
156344492	CV2186202	single nucleotide variant	NM_080424.4(SP110):c.2075A>G (p.Glu692Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003047935]	uncertain significance	2	230169191	230169191	Human	1	name
156372598	CV2194461	single nucleotide variant	NM_138402.6(SP140L):c.704A>G (p.Asp235Gly)	not specified [RCV004079555]	uncertain significance	2	230385224	230385224	Human		name
155965344	CV2206428	single nucleotide variant	NM_007237.5(SP140):c.2389G>A (p.Glu797Lys)	not specified [RCV004078749]	uncertain significance	2	230311479	230311479	Human		name
155981994	CV2208613	single nucleotide variant	NM_080424.4(SP110):c.1382G>A (p.Cys461Tyr)	Inborn genetic diseases [RCV002688456]	uncertain significance	2	230178222	230178222	Human	1	name
156144341	CV2208735	single nucleotide variant	NM_080424.4(SP110):c.2095C>T (p.Leu699Phe)	Inborn genetic diseases [RCV002697249]	likely benign	2	230169171	230169171	Human	1	name
155972004	CV2214218	single nucleotide variant	NM_007237.5(SP140):c.1934G>A (p.Arg645His)	not specified [RCV004086213]	uncertain significance	2	230292754	230292754	Human		name
156043816	CV2215885	single nucleotide variant	NM_080424.4(SP110):c.1198G>C (p.Asp400His)	Inborn genetic diseases [RCV002692441]	uncertain significance	2	230186075	230186075	Human	1	name
156045813	CV2216037	single nucleotide variant	NM_138402.6(SP140L):c.448G>T (p.Asp150Tyr)	not specified [RCV004097077]	uncertain significance	2	230361622	230361622	Human		name
156231320	CV2227593	single nucleotide variant	NM_007237.5(SP140):c.1264C>A (p.Pro422Thr)	not specified [RCV004094015]	uncertain significance	2	230269555	230269555	Human		name
156236473	CV2239017	single nucleotide variant	NM_007237.5(SP140):c.1305C>A (p.Ser435Arg)	not specified [RCV004109899]	uncertain significance	2	230269596	230269596	Human		name
155921277	CV2240502	single nucleotide variant	NM_138402.6(SP140L):c.782G>C (p.Arg261Thr)	not specified [RCV004119168]	uncertain significance	2	230385302	230385302	Human		name
156196995	CV2241590	single nucleotide variant	NM_080424.4(SP110):c.1150G>A (p.Gly384Ser)	Inborn genetic diseases [RCV002743199]	uncertain significance	2	230186123	230186123	Human	1	name
155990773	CV2255563	single nucleotide variant	NM_007237.5(SP140):c.1496G>A (p.Arg499Lys)	not specified [RCV004119983]	likely benign	2	230270637	230270637	Human		name
156113092	CV2263734	single nucleotide variant	NM_007237.5(SP140):c.1942G>T (p.Gly648Trp)	not specified [RCV004136025]	uncertain significance	2	230292762	230292762	Human		name
156114503	CV2264041	single nucleotide variant	NM_080424.4(SP110):c.1608A>C (p.Glu536Asp)	Inborn genetic diseases [RCV002848656]	uncertain significance	2	230172942	230172942	Human	1	name
156340023	CV2268047	single nucleotide variant	NM_138402.6(SP140L):c.958G>C (p.Glu320Gln)	not specified [RCV004136598]	uncertain significance	2	230390017	230390017	Human		name
155974042	CV2269908	single nucleotide variant	NM_138402.6(SP140L):c.404C>G (p.Pro135Arg)	not specified [RCV004127127]	uncertain significance	2	230359097	230359097	Human		name
156293527	CV2293066	single nucleotide variant	NM_080424.4(SP110):c.1141C>T (p.Pro381Ser)	Inborn genetic diseases [RCV002879062]	uncertain significance	2	230186132	230186132	Human	1	name
156247424	CV2306931	single nucleotide variant	NM_080424.4(SP110):c.1583T>C (p.Leu528Pro)	Inborn genetic diseases [RCV002919706]	uncertain significance	2	230177545	230177545	Human	1	name
156280453	CV2315979	single nucleotide variant	NM_080424.4(SP110):c.1483A>C (p.Thr495Pro)	Inborn genetic diseases [RCV002934904]	uncertain significance	2	230177645	230177645	Human	1	name
156052867	CV2320336	single nucleotide variant	NM_007237.5(SP140):c.1002G>A (p.Met334Ile)	not specified [RCV004178498]	uncertain significance	2	230251006	230251006	Human		name
156298931	CV2325910	single nucleotide variant	NM_007237.5(SP140):c.1415C>T (p.Thr472Met)	not specified [RCV004174086]	likely benign	2	230269924	230269924	Human		name
156270213	CV2326441	single nucleotide variant	NM_138402.6(SP140L):c.524G>A (p.Gly175Glu)	not specified [RCV004183009]	likely benign	2	230370908	230370908	Human		name
156330088	CV2339425	single nucleotide variant	NM_138402.6(SP140L):c.616G>A (p.Gly206Arg)	not specified [RCV004194097]	uncertain significance	2	230371630	230371630	Human		name
155984683	CV2344444	single nucleotide variant	NM_138402.6(SP140L):c.743A>G (p.Lys248Arg)	not specified [RCV004195189]	uncertain significance	2	230385263	230385263	Human		name
156341035	CV2348142	single nucleotide variant	NM_138402.6(SP140L):c.542C>T (p.Pro181Leu)	not specified [RCV004197817]	uncertain significance	2	230370926	230370926	Human		name
11350877	CV237011	single nucleotide variant	NM_080424.4(SP110):c.1100C>T (p.Thr367Met)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000324751]\|not provided [RCV000224559]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	230200914	230200914	Human	1	name
156018975	CV2370371	single nucleotide variant	NM_007237.5(SP140):c.1673G>A (p.Arg558His)	not specified [RCV004213271]	likely benign	2	230287919	230287919	Human		name
156171734	CV2380733	single nucleotide variant	NM_007237.5(SP140):c.2370G>C (p.Glu790Asp)	not specified [RCV004218305]	uncertain significance	2	230311460	230311460	Human		name
155967257	CV2391323	single nucleotide variant	NM_007237.5(SP140):c.1474T>A (p.Leu492Met)	not specified [RCV004237685]	uncertain significance	2	230270615	230270615	Human		name
329393573	CV2453440	single nucleotide variant	NM_080424.4(SP110):c.1132G>T (p.Ala378Ser)	Inborn genetic diseases [RCV003193239]	uncertain significance	2	230186141	230186141	Human	1	name
329361759	CV2468276	single nucleotide variant	NM_138402.6(SP140L):c.598G>A (p.Ala200Thr)	not specified [RCV004275838]	uncertain significance	2	230371612	230371612	Human		name
329388989	CV2469681	single nucleotide variant	NM_007237.5(SP140):c.2024T>C (p.Leu675Pro)	not specified [RCV004283094]	uncertain significance	2	230297428	230297428	Human		name
329352774	CV2470452	single nucleotide variant	NM_080424.4(SP110):c.1023A>T (p.Glu341Asp)	Inborn genetic diseases [RCV003200752]	uncertain significance	2	230202604	230202604	Human	1	name
401730875	CV2686762	single nucleotide variant	NM_138402.6(SP140L):c.851G>A (p.Arg284Gln)	not specified [RCV004301950]	likely benign	2	230388625	230388625	Human		name
401748175	CV2698304	single nucleotide variant	NM_080424.4(SP110):c.1529A>G (p.Asn510Ser)	Inborn genetic diseases [RCV003253020]	uncertain significance	2	230177599	230177599	Human	1	name
401737565	CV2699849	single nucleotide variant	NM_007237.5(SP140):c.1610C>A (p.Ala537Glu)	not specified [RCV004308491]	uncertain significance	2	230285797	230285797	Human		name
401737934	CV2700828	single nucleotide variant	NM_007237.5(SP140):c.1850C>T (p.Thr617Ile)	not specified [RCV004307106]	uncertain significance	2	230292670	230292670	Human		name
401751918	CV2702949	single nucleotide variant	NM_007237.5(SP140):c.1642A>G (p.Arg548Gly)	not specified [RCV004321274]	uncertain significance	2	230285829	230285829	Human		name
401773014	CV2709071	single nucleotide variant	NM_007237.5(SP140):c.1052G>T (p.Gly351Val)	not specified [RCV004314409]	uncertain significance	2	230251056	230251056	Human		name
401861702	CV2756430	single nucleotide variant	NM_138402.6(SP140L):c.680C>T (p.Thr227Met)	not specified [RCV004342966]	uncertain significance	2	230383552	230383552	Human		name
401889024	CV2761675	single nucleotide variant	NM_007237.5(SP140):c.2363T>C (p.Ile788Thr)	not specified [RCV004337293]	uncertain significance	2	230311453	230311453	Human		name
401879589	CV2764964	single nucleotide variant	NM_007237.5(SP140):c.1130A>G (p.Glu377Gly)	not specified [RCV004335045]	likely benign	2	230253388	230253388	Human		name
401895306	CV2786347	single nucleotide variant	NM_138402.6(SP140L):c.972G>C (p.Leu324Phe)	not specified [RCV004361951]	likely benign	2	230392094	230392094	Human		name
11581923	CV285198	single nucleotide variant	NM_080424.4(SP110):c.1737G>A (p.Met579Ile)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000390437]\|not provided [RCV004708547]\|not specified [RCV000455142]	benign\|likely benign	2	230172144	230172144	Human	1	name
11585939	CV285871	single nucleotide variant	NM_080424.4(SP110):c.2138C>G (p.Pro713Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000284439]\|Inborn genetic diseases [RCV002521414]\|not provided [RCV000997697]	uncertain significance	2	230169128	230169128	Human	2	name
11592507	CV285872	single nucleotide variant	NM_080424.4(SP110):c.2122G>A (p.Gly708Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000339429]	uncertain significance	2	230169144	230169144	Human	1	name
402484232	CV2878972	single nucleotide variant	NM_080424.4(SP110):c.1660C>G (p.Arg554Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003506016]	uncertain significance	2	230172890	230172890	Human	1	name
11586071	CV288158	single nucleotide variant	NM_080424.4(SP110):c.2054T>C (p.Leu685Pro)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000285486]\|Inborn genetic diseases [RCV004965423]	uncertain significance	2	230169212	230169212	Human	2	name
11594761	CV288174	single nucleotide variant	NM_080424.4(SP110):c.1568T>C (p.Met523Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000362881]\|not provided [RCV004708549]\|not specified [RCV000455391]	benign	2	230177560	230177560	Human	1	name
11597562	CV288585	single nucleotide variant	NM_080424.4(SP110):c.2120G>A (p.Gly707Asp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000395748]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003224264]	uncertain significance	2	230169146	230169146	Human	1	name
11597087	CV288586	single nucleotide variant	NM_080424.4(SP110):c.1928T>G (p.Leu643Trp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000390103]\|Inborn genetic diseases [RCV003168507]	uncertain significance	2	230170721	230170721	Human	2	name
11588168	CV288587	single nucleotide variant	NM_080424.4(SP110):c.1905G>C (p.Glu635Asp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000300729]\|Inborn genetic diseases [RCV002521415]	uncertain significance	2	230170744	230170744	Human	2	name
402471395	CV2907515	single nucleotide variant	NM_080424.4(SP110):c.1408G>A (p.Glu470Lys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003504637]	uncertain significance	2	230178196	230178196	Human	1	name
402471403	CV2907554	single nucleotide variant	NM_080424.4(SP110):c.1090T>C (p.Ser364Pro)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003504639]	uncertain significance	2	230200924	230200924	Human	1	name
405031105	CV2962227	single nucleotide variant	NM_080424.4(SP110):c.1675G>A (p.Asp559Asn)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003614473]	uncertain significance	2	230172875	230172875	Human	1	name
405092028	CV2988826	single nucleotide variant	NM_080424.4(SP110):c.1283A>G (p.Lys428Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003613806]	uncertain significance	2	230183637	230183637	Human	1	name
405094267	CV3118955	single nucleotide variant	NM_080424.4(SP110):c.2127C>G (p.Phe709Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003811406]	uncertain significance	2	230169139	230169139	Human	1	name
405775340	CV3333637	single nucleotide variant	NM_080424.4(SP110):c.1194G>C (p.Arg398Ser)	Inborn genetic diseases [RCV004457706]	uncertain significance	2	230186079	230186079	Human	1	name
405775347	CV3333638	single nucleotide variant	NM_080424.4(SP110):c.1384T>C (p.Ser462Pro)	Inborn genetic diseases [RCV004457707]	likely benign	2	230178220	230178220	Human	1	name
405775371	CV3333642	single nucleotide variant	NM_007237.5(SP140):c.1393C>T (p.Pro465Ser)	not specified [RCV004457711]	uncertain significance	2	230269902	230269902	Human		name
405775376	CV3333643	single nucleotide variant	NM_007237.5(SP140):c.1594T>G (p.Ser532Ala)	not specified [RCV004457712]	uncertain significance	2	230285781	230285781	Human		name
405775382	CV3333644	single nucleotide variant	NM_007237.5(SP140):c.1678A>T (p.Thr560Ser)	not specified [RCV004457713]	uncertain significance	2	230287924	230287924	Human		name
405775389	CV3333645	single nucleotide variant	NM_007237.5(SP140):c.1705A>G (p.Arg569Gly)	not specified [RCV004457714]	uncertain significance	2	230287951	230287951	Human		name
405775396	CV3333646	single nucleotide variant	NM_007237.5(SP140):c.1712G>T (p.Arg571Leu)	not specified [RCV004457715]	uncertain significance	2	230287958	230287958	Human		name
405775402	CV3333647	single nucleotide variant	NM_007237.5(SP140):c.1789G>A (p.Val597Met)	not specified [RCV004457716]	uncertain significance	2	230290528	230290528	Human		name
405775407	CV3333648	single nucleotide variant	NM_007237.5(SP140):c.1840T>C (p.Cys614Arg)	not specified [RCV004457717]	uncertain significance	2	230292660	230292660	Human		name
405775412	CV3333649	single nucleotide variant	NM_007237.5(SP140):c.1900C>T (p.His634Tyr)	not specified [RCV004457718]	likely benign	2	230292720	230292720	Human		name
405775419	CV3333650	single nucleotide variant	NM_007237.5(SP140):c.1942G>A (p.Gly648Arg)	not specified [RCV004457719]	uncertain significance	2	230292762	230292762	Human		name
405775478	CV3333660	single nucleotide variant	NM_138402.6(SP140L):c.565C>A (p.Gln189Lys)	not specified [RCV004457729]	uncertain significance	2	230370949	230370949	Human		name
405775493	CV3333662	single nucleotide variant	NM_138402.6(SP140L):c.754A>G (p.Met252Val)	not specified [RCV004457731]	likely benign	2	230385274	230385274	Human		name
405775499	CV3333663	single nucleotide variant	NM_138402.6(SP140L):c.917C>A (p.Thr306Asn)	not specified [RCV004457732]	uncertain significance	2	230389976	230389976	Human		name
407510242	CV3481271	single nucleotide variant	NM_007237.5(SP140):c.2095G>C (p.Gly699Arg)	not specified [RCV004672665]	uncertain significance	2	230309960	230309960	Human		name
407510266	CV3481280	single nucleotide variant	NM_138402.6(SP140L):c.821A>G (p.Gln274Arg)	not specified [RCV004672673]	uncertain significance	2	230388595	230388595	Human		name
407450981	CV3485207	single nucleotide variant	NM_080424.4(SP110):c.1618T>G (p.Cys540Gly)	Inborn genetic diseases [RCV004670685]	uncertain significance	2	230172932	230172932	Human	1	name
407510225	CV3485208	single nucleotide variant	NM_007237.5(SP140):c.1990C>T (p.Pro664Ser)	not specified [RCV004672659]	uncertain significance	2	230294292	230294292	Human		name
407510230	CV3485210	single nucleotide variant	NM_007237.5(SP140):c.1933C>T (p.Arg645Cys)	not specified [RCV004672661]	uncertain significance	2	230292753	230292753	Human		name
597730716	CV3600540	single nucleotide variant	NM_080424.4(SP110):c.1223T>C (p.Val408Ala)	Inborn genetic diseases [RCV004963956]	uncertain significance	2	230186050	230186050	Human	1	name
597699160	CV3600541	single nucleotide variant	NM_080424.4(SP110):c.1609T>C (p.Cys537Arg)	Inborn genetic diseases [RCV004963957]	uncertain significance	2	230172941	230172941	Human	1	name
597730722	CV3600542	single nucleotide variant	NM_080424.4(SP110):c.1412C>A (p.Ala471Glu)	Inborn genetic diseases [RCV004963958]	uncertain significance	2	230178192	230178192	Human	1	name
597730735	CV3600544	single nucleotide variant	NM_080424.4(SP110):c.1465A>T (p.Ile489Phe)	Inborn genetic diseases [RCV004963960]	uncertain significance	2	230177663	230177663	Human	1	name
597741745	CV3600546	single nucleotide variant	NM_007237.5(SP140):c.2593G>A (p.Gly865Arg)	not specified [RCV004864931]	uncertain significance	2	230312673	230312673	Human		name
597741754	CV3600552	single nucleotide variant	NM_007237.5(SP140):c.1489A>G (p.Arg497Gly)	not specified [RCV004864933]	uncertain significance	2	230270630	230270630	Human		name
597756738	CV3600553	single nucleotide variant	NM_007237.5(SP140):c.1120C>T (p.Pro374Ser)	not specified [RCV004868459]	uncertain significance	2	230253378	230253378	Human		name
597741763	CV3600556	single nucleotide variant	NM_007237.5(SP140):c.1643G>C (p.Arg548Thr)	not specified [RCV004864935]	uncertain significance	2	230285830	230285830	Human		name
597741772	CV3600558	single nucleotide variant	NM_007237.5(SP140):c.1696G>C (p.Ala566Pro)	not specified [RCV004864937]	likely benign	2	230287942	230287942	Human		name
597756746	CV3600559	single nucleotide variant	NM_007237.5(SP140):c.2591A>T (p.Asn864Ile)	not specified [RCV004868461]	uncertain significance	2	230312671	230312671	Human		name
597756756	CV3600562	single nucleotide variant	NM_138402.6(SP140L):c.590T>C (p.Val197Ala)	not specified [RCV004868463]	uncertain significance	2	230371604	230371604	Human		name
597756765	CV3600564	single nucleotide variant	NM_138402.6(SP140L):c.552G>C (p.Arg184Ser)	not specified [RCV004868465]	uncertain significance	2	230370936	230370936	Human		name
597756773	CV3600567	single nucleotide variant	NM_138402.6(SP140L):c.313G>A (p.Val105Met)	not specified [RCV004868467]	uncertain significance	2	230359006	230359006	Human		name
597756778	CV3600568	single nucleotide variant	NM_138402.6(SP140L):c.845G>C (p.Arg282Thr)	not specified [RCV004868468]	uncertain significance	2	230388619	230388619	Human		name
597956713	CV3818020	single nucleotide variant	NM_080424.4(SP110):c.1124C>T (p.Thr375Ile)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005162471]	uncertain significance	2	230200890	230200890	Human	1	name
598247686	CV3922475	single nucleotide variant	NM_080424.4(SP110):c.1121T>C (p.Val374Ala)	Inborn genetic diseases [RCV005277331]	uncertain significance	2	230200893	230200893	Human	1	name
598247688	CV3922476	single nucleotide variant	NM_080424.4(SP110):c.1796T>C (p.Met599Thr)	Inborn genetic diseases [RCV005277332]	uncertain significance	2	230172085	230172085	Human	1	name
598247695	CV3922477	single nucleotide variant	NM_080424.4(SP110):c.1285A>C (p.Lys429Gln)	Inborn genetic diseases [RCV005277333]	uncertain significance	2	230183635	230183635	Human	1	name
598247700	CV3922478	single nucleotide variant	NM_007237.5(SP140):c.1019C>G (p.Pro340Arg)	not specified [RCV005277334]	uncertain significance	2	230251023	230251023	Human		name
598247707	CV3922479	single nucleotide variant	NM_007237.5(SP140):c.1405G>C (p.Glu469Gln)	not specified [RCV005277335]	uncertain significance	2	230269914	230269914	Human		name
598247715	CV3922480	single nucleotide variant	NM_007237.5(SP140):c.2587A>G (p.Thr863Ala)	not specified [RCV005277336]	uncertain significance	2	230312667	230312667	Human		name
617152359	CV4020730	single nucleotide variant	NM_138402.6(SP140L):c.977A>G (p.Lys326Arg)	not provided [RCV005427987]	likely benign	2	230392099	230392099	Human		name
13612370	CV517874	single nucleotide variant	NM_080424.4(SP110):c.1591C>T (p.Arg531Trp)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642273]\|Inborn genetic diseases [RCV003343970]\|not provided [RCV004692009]	likely benign\|uncertain significance	2	230172959	230172959	Human	2	name
13612379	CV517956	single nucleotide variant	NM_080424.4(SP110):c.1555C>T (p.Arg519Cys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642275]	uncertain significance	2	230177573	230177573	Human	1	name
13811047	CV557900	single nucleotide variant	NM_080424.4(SP110):c.1612G>A (p.Glu538Lys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000702894]\|not provided [RCV004692174]	uncertain significance	2	230172938	230172938	Human	1	name
13814701	CV557902	single nucleotide variant	NM_080424.4(SP110):c.1421T>G (p.Ile474Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000705210]	uncertain significance	2	230178183	230178183	Human	1	name
13806337	CV557953	single nucleotide variant	NM_080424.4(SP110):c.2122G>C (p.Gly708Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000700531]	uncertain significance	2	230169144	230169144	Human	1	name
14737673	CV629521	single nucleotide variant	NM_080424.4(SP110):c.2092G>A (p.Val698Met)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000820561]	uncertain significance	2	230169174	230169174	Human	1	name
14703756	CV629522	single nucleotide variant	NM_080424.4(SP110):c.2086A>G (p.Lys696Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000807518]	uncertain significance	2	230169180	230169180	Human	1	name
14729974	CV629523	single nucleotide variant	NM_080424.4(SP110):c.1955C>T (p.Thr652Met)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000817178]	uncertain significance	2	230170694	230170694	Human	1	name
14731545	CV629524	single nucleotide variant	NM_080424.4(SP110):c.1547G>A (p.Arg516Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000801462]	uncertain significance	2	230177581	230177581	Human	1	name
14734518	CV629525	single nucleotide variant	NM_080424.4(SP110):c.1427A>G (p.Tyr476Cys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000819144]	uncertain significance	2	230178177	230178177	Human	1	name
14719802	CV629526	single nucleotide variant	NM_080424.4(SP110):c.1379A>C (p.His460Pro)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000812769]\|Inborn genetic diseases [RCV004669133]\|not provided [RCV004693349]	uncertain significance	2	230178225	230178225	Human	2	name
14714906	CV629527	single nucleotide variant	NM_080424.4(SP110):c.1349G>A (p.Gly450Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000794598]	uncertain significance	2	230178255	230178255	Human	1	name
14732703	CV629528	single nucleotide variant	NM_080424.4(SP110):c.1315A>G (p.Lys439Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000801952]\|Inborn genetic diseases [RCV002534694]	likely benign\|uncertain significance	2	230183605	230183605	Human	2	name
14740938	CV629529	single nucleotide variant	NM_080424.4(SP110):c.1301T>C (p.Ile434Thr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000822032]	uncertain significance	2	230183619	230183619	Human	1	name
14734742	CV629530	single nucleotide variant	NM_080424.4(SP110):c.1256G>A (p.Cys419Tyr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000819273]	uncertain significance	2	230186017	230186017	Human	1	name
14730200	CV629531	single nucleotide variant	NM_080424.4(SP110):c.1037C>T (p.Ser346Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000817299]	uncertain significance	2	230202590	230202590	Human	1	name
15148841	CV708089	single nucleotide variant	NM_080424.4(SP110):c.2006G>A (p.Arg669His)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000967632]	benign	2	230170643	230170643	Human	1	name
15133145	CV708090	single nucleotide variant	NM_007237.5(SP140):c.1202G>C (p.Arg401Pro)	not provided [RCV000964898]	benign	2	230255494	230255494	Human		name
15175316	CV719693	single nucleotide variant	NM_080424.4(SP110):c.1324T>C (p.Phe442Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000884335]	likely benign	2	230183596	230183596	Human	1	name
15170062	CV733251	single nucleotide variant	NM_007237.5(SP140):c.1672C>T (p.Arg558Cys)	not provided [RCV000905191]	benign	2	230287918	230287918	Human		name
25318557	CV805298	single nucleotide variant	NM_080424.4(SP110):c.1261C>T (p.Arg421Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001860593]\|not provided [RCV001008696]	pathogenic\|likely pathogenic	2	230186012	230186012	Human	1	name
26914145	CV825828	single nucleotide variant	NM_080424.4(SP110):c.2014A>T (p.Lys672Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001054755]	uncertain significance	2	230170635	230170635	Human	1	name
26913105	CV825829	single nucleotide variant	NM_080424.4(SP110):c.1900G>A (p.Gly634Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001054026]	uncertain significance	2	230170749	230170749	Human	1	name
26885414	CV825830	single nucleotide variant	NM_080424.4(SP110):c.1766A>T (p.His589Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001043537]\|Inborn genetic diseases [RCV005278715]	likely benign\|uncertain significance	2	230172115	230172115	Human	2	name
26922509	CV825831	single nucleotide variant	NM_080424.4(SP110):c.1601C>T (p.Ser534Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001062211]\|Inborn genetic diseases [RCV004963077]	likely benign\|uncertain significance	2	230172949	230172949	Human	2	name
26913673	CV825832	single nucleotide variant	NM_080424.4(SP110):c.1227G>A (p.Met409Ile)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001054402]\|Inborn genetic diseases [RCV003283914]	uncertain significance	2	230186046	230186046	Human	2	name
26892578	CV825833	single nucleotide variant	NM_080424.4(SP110):c.1226T>G (p.Met409Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001047011]	uncertain significance	2	230186047	230186047	Human	1	name
26908752	CV825834	single nucleotide variant	NM_080424.4(SP110):c.1225A>G (p.Met409Val)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001038377]\|Inborn genetic diseases [RCV002551415]	uncertain significance	2	230186048	230186048	Human	2	name
26917530	CV825835	single nucleotide variant	NM_080424.4(SP110):c.1030C>T (p.Arg344Ter)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001042703]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005029598]	pathogenic\|likely pathogenic	2	230202597	230202597	Human	1	name
8630232	CV85379	single nucleotide variant	NM_007237.4(SP140):c.2528G>A (p.Gly843Glu)	Malignant melanoma [RCV000065461]	not provided	2	230312608	230312608	Human		name
8630233	CV85380	single nucleotide variant	NM_138402.4(SP140L):c.638G>A (p.Arg213Lys)	Malignant melanoma [RCV000065462]	not provided	2	230383510	230383510	Human		name
28885138	CV884088	single nucleotide variant	NM_080424.4(SP110):c.2005C>T (p.Arg669Cys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137430]	uncertain significance	2	230170644	230170644	Human	1	name
28885142	CV884089	single nucleotide variant	NM_080424.4(SP110):c.1988A>C (p.Asp663Ala)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137431]	uncertain significance	2	230170661	230170661	Human	1	name
28885145	CV884090	single nucleotide variant	NM_080424.4(SP110):c.1985G>A (p.Arg662Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137432]\|Inborn genetic diseases [RCV003346332]	uncertain significance	2	230170664	230170664	Human	2	name
28885148	CV884091	single nucleotide variant	NM_080424.4(SP110):c.1939A>G (p.Lys647Glu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137433]	uncertain significance	2	230170710	230170710	Human	1	name
28894200	CV884092	single nucleotide variant	NM_080424.4(SP110):c.1286A>G (p.Lys429Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001140414]	uncertain significance	2	230183634	230183634	Human	1	name
38476748	CV931173	single nucleotide variant	NM_080424.4(SP110):c.2119G>T (p.Gly707Cys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001204821]	uncertain significance	2	230169147	230169147	Human	1	name
38468075	CV931174	single nucleotide variant	NM_080424.4(SP110):c.1469G>A (p.Arg490Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001202137]\|Inborn genetic diseases [RCV004033525]\|not provided [RCV004695150]	likely benign\|uncertain significance	2	230177659	230177659	Human	2	name
38477654	CV942639	single nucleotide variant	NM_080424.4(SP110):c.2098G>A (p.Gly700Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001233573]	uncertain significance	2	230169168	230169168	Human	1	name
38464034	CV942640	single nucleotide variant	NM_080424.4(SP110):c.1502A>G (p.Glu501Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001229929]	uncertain significance	2	230177626	230177626	Human	1	name
38457128	CV952965	single nucleotide variant	NM_080424.4(SP110):c.1311C>A (p.Ser437Arg)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001245990]	uncertain significance	2	230183609	230183609	Human	1	name
8696097	CV97377	single nucleotide variant	NM_007237.4(SP140):c.1499G>A (p.Arg500Lys)	Malignant melanoma [RCV000128471]	not provided	2	230284346	230284346	Human		name
8689363	CV97451	single nucleotide variant	NM_007237.5(SP140):c.1550A>C (p.Asn517Thr)	not provided [RCV000122530]	uncertain significance	2	230284397	230284397	Human		name
126744020	CV988424	single nucleotide variant	NM_080424.4(SP110):c.1319G>A (p.Arg440Lys)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001305787]	uncertain significance	2	230183601	230183601	Human	1	name
126753577	CV988425	single nucleotide variant	NM_080424.4(SP110):c.1298A>G (p.Asp433Gly)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001307421]	uncertain significance	2	230183622	230183622	Human	1	name
155923568	CV2215720	single nucleotide variant	NM_138402.6(SP140L):c.1284C>A (p.Asp428Glu)	not specified [RCV004091243]	uncertain significance	2	230400213	230400213	Human		name
156311385	CV2260168	single nucleotide variant	NM_138402.6(SP140L):c.1511C>T (p.Ala504Val)	not specified [RCV004119157]	uncertain significance	2	230401674	230401674	Human		name
155916655	CV2282200	single nucleotide variant	NM_138402.6(SP140L):c.1195T>C (p.Cys399Arg)	not specified [RCV004132783]	uncertain significance	2	230396796	230396796	Human		name
156192821	CV2301918	single nucleotide variant	NM_001080391.2(SP100):c.209A>C (p.Lys70Thr)	not specified [RCV004156699]	uncertain significance	2	230443038	230443038	Human		name
156348046	CV2312571	single nucleotide variant	NM_138402.6(SP140L):c.1300G>A (p.Val434Met)	not specified [RCV004169312]	uncertain significance	2	230400229	230400229	Human		name
155973376	CV2321003	single nucleotide variant	NM_138402.6(SP140L):c.1370G>A (p.Cys457Tyr)	not specified [RCV004172797]	uncertain significance	2	230401011	230401011	Human		name
401775964	CV2692552	single nucleotide variant	NM_138402.6(SP140L):c.1177A>C (p.Asn393His)	not specified [RCV004312295]	uncertain significance	2	230396778	230396778	Human		name
401759783	CV2701716	single nucleotide variant	NM_138402.6(SP140L):c.1016T>G (p.Met339Arg)	not specified [RCV004314123]	likely benign	2	230392138	230392138	Human		name
401892171	CV2777297	single nucleotide variant	NM_138402.6(SP140L):c.1705G>A (p.Glu569Lys)	not specified [RCV004354312]	uncertain significance	2	230402858	230402858	Human		name
405775251	CV3333622	single nucleotide variant	NM_001080391.2(SP100):c.162C>A (p.Phe54Leu)	not specified [RCV004457691]	uncertain significance	2	230442991	230442991	Human		name
405775293	CV3333629	single nucleotide variant	NM_001080391.2(SP100):c.284C>G (p.Ser95Cys)	not specified [RCV004457698]	uncertain significance	2	230444191	230444191	Human		name
405775461	CV3333657	single nucleotide variant	NM_138402.6(SP140L):c.1104G>A (p.Met368Ile)	not specified [RCV004457726]	likely benign	2	230392226	230392226	Human		name
405775467	CV3333658	single nucleotide variant	NM_138402.6(SP140L):c.1730A>G (p.Asn577Ser)	not specified [RCV004457727]	uncertain significance	2	230402883	230402883	Human		name
407510255	CV3481276	single nucleotide variant	NM_138402.6(SP140L):c.1250G>C (p.Cys417Ser)	not specified [RCV004672669]	uncertain significance	2	230400179	230400179	Human		name
407510261	CV3481278	single nucleotide variant	NM_138402.6(SP140L):c.1013C>G (p.Pro338Arg)	not specified [RCV004672671]	uncertain significance	2	230392135	230392135	Human		name
407510269	CV3481281	single nucleotide variant	NM_138402.6(SP140L):c.1623G>C (p.Gln541His)	not specified [RCV004672674]	uncertain significance	2	230401786	230401786	Human		name
597741777	CV3600560	single nucleotide variant	NM_138402.6(SP140L):c.1712T>G (p.Phe571Cys)	not specified [RCV004864938]	uncertain significance	2	230402865	230402865	Human		name
597756760	CV3600563	single nucleotide variant	NM_138402.6(SP140L):c.1081G>A (p.Gly361Arg)	not specified [RCV004868464]	uncertain significance	2	230392203	230392203	Human		name
597756781	CV3600569	single nucleotide variant	NM_138402.6(SP140L):c.1186G>C (p.Val396Leu)	not specified [RCV004868469]	uncertain significance	2	230396787	230396787	Human		name
597756791	CV3600571	single nucleotide variant	NM_138402.6(SP140L):c.1703A>G (p.Lys568Arg)	not specified [RCV004868471]	uncertain significance	2	230402856	230402856	Human		name
598247648	CV3922470	single nucleotide variant	NM_001080391.2(SP100):c.236G>A (p.Arg79His)	not specified [RCV005277326]	uncertain significance	2	230443065	230443065	Human		name
598247735	CV3922483	single nucleotide variant	NM_138402.6(SP140L):c.1625A>T (p.Asn542Ile)	not specified [RCV005277339]	uncertain significance	2	230401788	230401788	Human		name
598247741	CV3922484	single nucleotide variant	NM_138402.6(SP140L):c.1094G>A (p.Arg365Gln)	not specified [RCV005277340]	likely benign	2	230392216	230392216	Human		name
598247747	CV3922485	single nucleotide variant	NM_138402.6(SP140L):c.1609C>T (p.Arg537Cys)	not specified [RCV005277341]	uncertain significance	2	230401772	230401772	Human		name
598247755	CV3922486	single nucleotide variant	NM_138402.6(SP140L):c.1067G>C (p.Ser356Thr)	not specified [RCV005277342]	uncertain significance	2	230392189	230392189	Human		name
15178289	CV697376	single nucleotide variant	NM_001080391.2(SP100):c.1008C>T (p.Asp336=)	not provided [RCV000951244]	benign	2	230462469	230462469	Human		name
156308946	CV2249581	single nucleotide variant	NM_001080391.2(SP100):c.424A>G (p.Lys142Glu)	not specified [RCV004120600]	likely benign	2	230444331	230444331	Human		name
155926330	CV2284865	single nucleotide variant	NM_001080391.2(SP100):c.596C>T (p.Pro199Leu)	not specified [RCV004143321]	uncertain significance	2	230449570	230449570	Human		name
155932745	CV2290852	single nucleotide variant	NM_001080391.2(SP100):c.744C>G (p.Cys248Trp)	not specified [RCV004149346]	uncertain significance	2	230450179	230450179	Human		name
156257876	CV2322099	single nucleotide variant	NM_001080391.2(SP100):c.590C>A (p.Thr197Lys)	not specified [RCV004173841]	uncertain significance	2	230449564	230449564	Human		name
329385064	CV2454648	single nucleotide variant	NM_001080391.2(SP100):c.527C>T (p.Thr176Ile)	not specified [RCV004268107]	uncertain significance	2	230449091	230449091	Human		name
401774898	CV2688326	single nucleotide variant	NM_001080391.2(SP100):c.490G>A (p.Glu164Lys)	not specified [RCV004299331]	uncertain significance	2	230446869	230446869	Human		name
401756775	CV2732093	single nucleotide variant	NM_001080391.2(SP100):c.938C>A (p.Ala313Glu)	not specified [RCV004330676]	uncertain significance	2	230461379	230461379	Human		name
405775299	CV3333630	single nucleotide variant	NM_001080391.2(SP100):c.382G>A (p.Asp128Asn)	not specified [RCV004457699]	uncertain significance	2	230444289	230444289	Human		name
405775304	CV3333631	single nucleotide variant	NM_001080391.2(SP100):c.476A>G (p.Glu159Gly)	not specified [RCV004457700]	likely benign	2	230446855	230446855	Human		name
405775310	CV3333632	single nucleotide variant	NM_001080391.2(SP100):c.545G>A (p.Arg182Gln)	not specified [RCV004457701]	likely benign	2	230449109	230449109	Human		name
405775316	CV3333633	single nucleotide variant	NM_001080391.2(SP100):c.895G>A (p.Glu299Lys)	not specified [RCV004457702]	uncertain significance	2	230461336	230461336	Human		name
405775328	CV3333635	single nucleotide variant	NM_001080391.2(SP100):c.937G>C (p.Ala313Pro)	not specified [RCV004457704]	uncertain significance	2	230461378	230461378	Human		name
405775333	CV3333636	single nucleotide variant	NM_001080391.2(SP100):c.998G>A (p.Gly333Glu)	not specified [RCV004457705]	likely benign	2	230462459	230462459	Human		name
407504817	CV3485203	single nucleotide variant	NM_001080391.2(SP100):c.901C>A (p.Pro301Thr)	not specified [RCV004670681]	uncertain significance	2	230461342	230461342	Human		name
597756679	CV3603986	single nucleotide variant	NM_001080391.2(SP100):c.967A>G (p.Ile323Val)	not specified [RCV004868446]	uncertain significance	2	230461408	230461408	Human		name
597756692	CV3603989	single nucleotide variant	NM_001080391.2(SP100):c.598C>T (p.Pro200Ser)	not specified [RCV004868449]	uncertain significance	2	230449572	230449572	Human		name
597741740	CV3603993	single nucleotide variant	NM_001080391.2(SP100):c.478G>C (p.Glu160Gln)	not specified [RCV004864930]	uncertain significance	2	230446857	230446857	Human		name
597756706	CV3603994	single nucleotide variant	NM_001080391.2(SP100):c.532G>A (p.Glu178Lys)	not specified [RCV004868452]	uncertain significance	2	230449096	230449096	Human		name
598247671	CV3922473	single nucleotide variant	NM_001080391.2(SP100):c.701C>A (p.Thr234Lys)	not specified [RCV005277329]	uncertain significance	2	230449675	230449675	Human		name
14688137	CV620068	microsatellite	NM_080424.4(SP110):c.342_346del (p.Ser114fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000778598]	uncertain significance	2	230212998	230213002	Human		name
15111083	CV708091	single nucleotide variant	NM_001080391.2(SP100):c.875G>A (p.Arg292Gln)	not provided [RCV000961033]	likely benign	2	230461316	230461316	Human		name
8573351	CV76651	duplication	NM_080424.4(SP110):c.319_325dup (p.Ser109fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000055974]	pathogenic\|not provided	2	230213018	230213019	Human	1	name
126908672	CV969899	duplication	NM_001080391.2(SP100):c.2282dup (p.His761fs)	Hereditary breast ovarian cancer syndrome [RCV001374502]	uncertain significance	2	230540946	230540947	Human	1	name
156070714	CV2204062	single nucleotide variant	NM_001080391.2(SP100):c.1627G>A (p.Val543Ile)	not specified [RCV004076529]	uncertain significance	2	230494442	230494442	Human		name
156132422	CV2235316	single nucleotide variant	NM_001080391.2(SP100):c.2087A>T (p.Asp696Val)	not specified [RCV004107348]	uncertain significance	2	230511159	230511159	Human		name
156366101	CV2272234	single nucleotide variant	NM_001080391.2(SP100):c.1625A>G (p.Lys542Arg)	not specified [RCV004126910]	uncertain significance	2	230494440	230494440	Human		name
155902343	CV2274672	single nucleotide variant	NM_001080391.2(SP100):c.1545G>C (p.Met515Ile)	not specified [RCV004139045]	uncertain significance	2	230473439	230473439	Human		name
156213343	CV2367073	single nucleotide variant	NM_001080391.2(SP100):c.1124G>A (p.Arg375Gln)	not specified [RCV004215518]	uncertain significance	2	230464133	230464133	Human		name
156163399	CV2368467	single nucleotide variant	NM_001080391.2(SP100):c.1979G>A (p.Arg660His)	not specified [RCV004221270]	uncertain significance	2	230506411	230506411	Human		name
156100423	CV2392943	single nucleotide variant	NM_001080391.2(SP100):c.2162C>G (p.Pro721Arg)	not specified [RCV004247287]	uncertain significance	2	230539334	230539334	Human		name
329380539	CV2444442	single nucleotide variant	NM_001080391.2(SP100):c.1984G>A (p.Gly662Ser)	not specified [RCV004263178]	uncertain significance	2	230506416	230506416	Human		name
329369908	CV2461270	single nucleotide variant	NM_001080391.2(SP100):c.2396C>A (p.Pro799Gln)	not specified [RCV004267449]	uncertain significance	2	230541365	230541365	Human		name
329375585	CV2468699	single nucleotide variant	NM_001080391.2(SP100):c.2227A>G (p.Ile743Val)	not specified [RCV004280029]	uncertain significance	2	230540892	230540892	Human		name
401779942	CV2676744	single nucleotide variant	NM_001080391.2(SP100):c.1892A>G (p.Gln631Arg)	not specified [RCV004290918]	uncertain significance	2	230506324	230506324	Human		name
401730655	CV2689779	single nucleotide variant	NM_001080391.2(SP100):c.2116G>A (p.Glu706Lys)	not specified [RCV004297688]	uncertain significance	2	230539288	230539288	Human		name
401734136	CV2697964	single nucleotide variant	NM_001080391.2(SP100):c.2576A>T (p.Gln859Leu)	not specified [RCV004302451]	uncertain significance	2	230542864	230542864	Human		name
401749740	CV2710955	single nucleotide variant	NM_001080391.2(SP100):c.2486G>A (p.Arg829Gln)	not specified [RCV004310669]	likely benign	2	230541974	230541974	Human		name
401877563	CV2761187	single nucleotide variant	NM_001080391.2(SP100):c.2626G>A (p.Glu876Lys)	not specified [RCV004341072]	uncertain significance	2	230542914	230542914	Human		name
401894608	CV2788478	single nucleotide variant	NM_001080391.2(SP100):c.1087A>G (p.Asn363Asp)	not specified [RCV004355000]	uncertain significance	2	230464096	230464096	Human		name
401872869	CV2793021	single nucleotide variant	NM_001080391.2(SP100):c.1388A>C (p.Glu463Ala)	not specified [RCV004360355]	uncertain significance	2	230470057	230470057	Human		name
405775214	CV3333615	single nucleotide variant	NM_001080391.2(SP100):c.1241C>T (p.Ala414Val)	not specified [RCV004457684]	uncertain significance	2	230467165	230467165	Human		name
405775219	CV3333616	single nucleotide variant	NM_001080391.2(SP100):c.1246G>A (p.Ala416Thr)	not specified [RCV004457685]	uncertain significance	2	230467170	230467170	Human		name
405775225	CV3333617	single nucleotide variant	NM_001080391.2(SP100):c.1346G>T (p.Arg449Leu)	not specified [RCV004457686]	uncertain significance	2	230470015	230470015	Human		name
405775231	CV3333618	single nucleotide variant	NM_001080391.2(SP100):c.1390C>A (p.Leu464Ile)	not specified [RCV004457687]	uncertain significance	2	230470059	230470059	Human		name
405775235	CV3333619	single nucleotide variant	NM_001080391.2(SP100):c.1475T>A (p.Met492Lys)	not specified [RCV004457688]	uncertain significance	2	230473369	230473369	Human		name
405775239	CV3333620	single nucleotide variant	NM_001080391.2(SP100):c.1552A>G (p.Met518Val)	not specified [RCV004457689]	uncertain significance	2	230474399	230474399	Human		name
405775257	CV3333623	single nucleotide variant	NM_001080391.2(SP100):c.1948G>A (p.Gly650Arg)	not specified [RCV004457692]	uncertain significance	2	230506380	230506380	Human		name
405775263	CV3333624	single nucleotide variant	NM_001080391.2(SP100):c.2396C>T (p.Pro799Leu)	not specified [RCV004457693]	uncertain significance	2	230541365	230541365	Human		name
405775269	CV3333625	single nucleotide variant	NM_001080391.2(SP100):c.2471A>C (p.Glu824Ala)	not specified [RCV004457694]	uncertain significance	2	230541959	230541959	Human		name
405775275	CV3333626	single nucleotide variant	NM_001080391.2(SP100):c.2478G>A (p.Met826Ile)	not specified [RCV004457695]	uncertain significance	2	230541966	230541966	Human		name
405775281	CV3333627	single nucleotide variant	NM_001080391.2(SP100):c.2581C>G (p.Gln861Glu)	not specified [RCV004457696]	likely benign	2	230542869	230542869	Human		name
405775287	CV3333628	single nucleotide variant	NM_001080391.2(SP100):c.2647A>C (p.Met883Leu)	not specified [RCV004457697]	uncertain significance	2	230542935	230542935	Human		name
407504897	CV3485202	single nucleotide variant	NM_001080391.2(SP100):c.1208A>G (p.Asp403Gly)	not specified [RCV004670680]	uncertain significance	2	230467132	230467132	Human		name
407504822	CV3485204	single nucleotide variant	NM_001080391.2(SP100):c.1190A>G (p.Lys397Arg)	not specified [RCV004670682]	uncertain significance	2	230466349	230466349	Human		name
407504825	CV3485205	single nucleotide variant	NM_001080391.2(SP100):c.2107A>G (p.Asn703Asp)	not specified [RCV004670683]	uncertain significance	2	230539279	230539279	Human		name
407504828	CV3485206	single nucleotide variant	NM_001080391.2(SP100):c.2174A>T (p.His725Leu)	not specified [RCV004670684]	uncertain significance	2	230539346	230539346	Human		name
597756710	CV3600539	single nucleotide variant	NM_001080391.2(SP100):c.1558G>A (p.Val520Ile)	not specified [RCV004868453]	likely benign	2	230474405	230474405	Human		name
597756675	CV3603985	single nucleotide variant	NM_001080391.2(SP100):c.2470G>A (p.Glu824Lys)	not specified [RCV004868445]	likely benign	2	230541958	230541958	Human		name
597756683	CV3603987	single nucleotide variant	NM_001080391.2(SP100):c.2270G>A (p.Ser757Asn)	not specified [RCV004868447]	uncertain significance	2	230540935	230540935	Human		name
597756688	CV3603988	single nucleotide variant	NM_001080391.2(SP100):c.2441G>T (p.Trp814Leu)	not specified [RCV004868448]	uncertain significance	2	230541929	230541929	Human		name
597756697	CV3603990	single nucleotide variant	NM_001080391.2(SP100):c.2459C>G (p.Thr820Arg)	not specified [RCV004868450]	likely benign	2	230541947	230541947	Human		name
597741735	CV3603991	single nucleotide variant	NM_001080391.2(SP100):c.2557T>C (p.Phe853Leu)	not specified [RCV004864929]	uncertain significance	2	230542845	230542845	Human		name
597756701	CV3603992	single nucleotide variant	NM_001080391.2(SP100):c.2278G>A (p.Gly760Ser)	not specified [RCV004868451]	uncertain significance	2	230540943	230540943	Human		name
598247632	CV3922468	single nucleotide variant	NM_001080391.2(SP100):c.1261G>A (p.Gly421Arg)	not specified [RCV005277324]	likely benign	2	230467185	230467185	Human		name
598247640	CV3922469	single nucleotide variant	NM_001080391.2(SP100):c.1946G>A (p.Arg649His)	not specified [RCV005277325]	likely benign	2	230506378	230506378	Human		name
598247655	CV3922471	single nucleotide variant	NM_001080391.2(SP100):c.1081G>A (p.Glu361Lys)	not specified [RCV005277327]	uncertain significance	2	230464090	230464090	Human		name
598247664	CV3922472	single nucleotide variant	NM_001080391.2(SP100):c.1043C>T (p.Pro348Leu)	not specified [RCV005277328]	likely benign	2	230462504	230462504	Human		name
598247678	CV3922474	single nucleotide variant	NM_001080391.2(SP100):c.1613G>C (p.Arg538Thr)	not specified [RCV005277330]	uncertain significance	2	230494428	230494428	Human		name
127240614	CV1059248	deletion	NM_080424.4(SP110):c.1116_1119del (p.Arg373fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001383491]	pathogenic\|likely pathogenic	2	230200895	230200898	Human	1	name
243056009	CV2413317	deletion	NM_080424.4(SP110):c.1766_1767del (p.His589fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003132618]	likely pathogenic	2	230172114	230172115	Human	1	name
597967314	CV3794471	deletion	NM_080424.4(SP110):c.1103_1109del (p.Pro368fs)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005140647]	pathogenic	2	230200905	230200911	Human	1	name
8573354	CV76656	indel	NM_080424.4(SP110):c.78_79delinsAT (p.Ile27Leu)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000055979]	pathogenic	2	230216849	230216850	Human		name
151892017	CV1399639	indel	NM_080424.4(SP110):c.750_751delinsCC (p.Glu251Gln)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001943671]	uncertain significance	2	230211470	230211471	Human		name
151787014	CV1495511	indel	NM_080424.4(SP110):c.1650_1651delinsCT (p.Thr551Ser)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV002026823]	uncertain significance	2	230172899	230172900	Human		name
13820414	CV561039	indel	NM_080424.4(SP110):c.1091_1092delinsAT (p.Ser364Tyr)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000694847]	uncertain significance	2	230200922	230200923	Human		name
41407712	CV980413	duplication	NM_080424.4(SP110):c.1020_1043dup (p.Cys342_Glu349dup)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001280950]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001365812]	uncertain significance	2	230202583	230202584	Human	1	name
401875337	CV2749956	microsatellite	NM_080424.4(SP110):c.1514AAGGAA[1] (p.Lys507_Gly508del)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV003333365]	uncertain significance	2	230177603	230177608	Human		name
151763381	CV1471630	deletion	NM_080424.4(SP110):c.1775_1778del (p.Val591_Ser592insTer)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001949407]	pathogenic	2	230172103	230172106	Human	1	name
127267095	CV1059247	microsatellite	NM_080424.4(SP110):c.1428_1429del (p.Tyr476_Lys477delinsTer)	Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001381849]\|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV005023136]	pathogenic\|likely pathogenic	2	230178175	230178176	Human		name

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