Htra1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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320 records found for search term Htra1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11666066	CV320486	single nucleotide variant	NM_002775.5(HTRA1):c.-57C>A	Macular degeneration [RCV000313936]\|not provided [RCV004706758]	likely benign	10	122461596	122461596	Human	2	name
11603425	CV309635	single nucleotide variant	NM_002775.5(HTRA1):c.*296C>G	Macular degeneration [RCV000299709]	likely benign	10	122514655	122514655	Human	2	name
11663000	CV320495	single nucleotide variant	NM_002775.5(HTRA1):c.*217T>A	Macular degeneration [RCV000391126]	uncertain significance	10	122514576	122514576	Human	2	name
11608728	CV320496	single nucleotide variant	NM_002775.5(HTRA1):c.*446G>A	Macular degeneration [RCV000359140]	uncertain significance	10	122514805	122514805	Human	2	name
11608342	CV321000	single nucleotide variant	NM_002775.5(HTRA1):c.*191G>T	Macular degeneration [RCV000353453]	uncertain significance	10	122514550	122514550	Human	2	name
28898066	CV865533	single nucleotide variant	NM_002775.5(HTRA1):c.*460C>T	Macular degeneration [RCV001102843]	uncertain significance	10	122514819	122514819	Human	2	name
152109715	CV1563921	single nucleotide variant	NM_002775.5(HTRA1):c.973-6T>C	not provided [RCV002174180]	likely benign	10	122507364	122507364	Human		name
152999283	CV1679725	single nucleotide variant	NM_002775.5(HTRA1):c.972+1G>C	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002251114]	likely pathogenic	10	122506886	122506886	Human	1	name
156239232	CV1996290	single nucleotide variant	NM_002775.5(HTRA1):c.972+1G>A	Age related macular degeneration 7 [RCV004066843]\|not provided [RCV002667870]	pathogenic\|likely pathogenic	10	122506886	122506886	Human	1	name
156402812	CV2010125	single nucleotide variant	NM_002775.5(HTRA1):c.777+6G>A	not provided [RCV002726160]	uncertain significance	10	122489632	122489632	Human		name
156043809	CV2026506	single nucleotide variant	NM_002775.5(HTRA1):c.472+2T>C	not provided [RCV002736282]	likely pathogenic	10	122462126	122462126	Human		name
156200181	CV2110007	single nucleotide variant	NM_002775.5(HTRA1):c.778-7G>A	not provided [RCV002957350]	likely benign\|uncertain significance	10	122506684	122506684	Human		name
10768773	CV222929	single nucleotide variant	NM_002775.5(HTRA1):c.973-1G>A	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206946]	pathogenic	10	122507369	122507369	Human	1	name
11605994	CV314439	single nucleotide variant	NM_002775.5(HTRA1):c.472+6C>A	Macular degeneration [RCV000326266]\|not provided [RCV000923031]	likely benign\|uncertain significance	10	122462130	122462130	Human	2	name
11610397	CV320973	single nucleotide variant	NM_002775.5(HTRA1):c.473-8G>T	Macular degeneration [RCV000380837]\|not provided [RCV000901659]	benign\|likely benign	10	122488894	122488894	Human	2	name
597962034	CV3753585	single nucleotide variant	NM_002775.5(HTRA1):c.777+1G>A	not provided [RCV005081889]	likely pathogenic	10	122489627	122489627	Human		name
13446250	CV437878	single nucleotide variant	NM_002775.5(HTRA1):c.573-8G>A	not provided [RCV000513477]	conflicting interpretations of pathogenicity\|uncertain significance	10	122489414	122489414	Human		name
15121307	CV759943	single nucleotide variant	NM_002775.5(HTRA1):c.973-7A>T	not provided [RCV000918460]	likely benign	10	122507363	122507363	Human		name
127305066	CV1156376	single nucleotide variant	NM_002775.5(HTRA1):c.778-20G>A	not provided [RCV001516140]	benign	10	122506671	122506671	Human		name
150484354	CV1222473	single nucleotide variant	NM_002775.5(HTRA1):c.972+99C>T	not provided [RCV001617476]	benign	10	122506984	122506984	Human		name
150460557	CV1264191	single nucleotide variant	NM_002775.5(HTRA1):c.777+93C>T	not provided [RCV001682107]	benign	10	122489719	122489719	Human		name
151727383	CV1482428	single nucleotide variant	NM_002775.5(HTRA1):c.1275-3C>T	HTRA1-related disorder [RCV004749832]\|not provided [RCV002020946]	likely benign\|uncertain significance	10	122514188	122514188	Human		name , trait , alternate_id
152054323	CV1575166	single nucleotide variant	NM_002775.5(HTRA1):c.778-16G>A	not provided [RCV002109353]	benign	10	122506675	122506675	Human		name
156221459	CV1960247	single nucleotide variant	NM_002775.5(HTRA1):c.777+17C>T	not provided [RCV002575544]	likely benign	10	122489643	122489643	Human		name
156415877	CV1966308	single nucleotide variant	NM_002775.5(HTRA1):c.1275-9G>A	not provided [RCV002589409]	likely benign	10	122514182	122514182	Human		name
156406067	CV2004587	single nucleotide variant	NM_002775.5(HTRA1):c.973-20T>A	not provided [RCV002658463]	likely benign	10	122507350	122507350	Human		name
405148642	CV2960155	single nucleotide variant	NM_002775.5(HTRA1):c.778-15C>T	not provided [RCV003669845]	likely benign	10	122506676	122506676	Human		name
11611165	CV309634	single nucleotide variant	NM_002775.5(HTRA1):c.1274+8G>A	CARASIL syndrome [RCV001701995]\|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001702418]\|Macular degeneration [RCV000391119]\|not provided [RCV000711024]\|not specified [RCV001528818]	benign\|likely benign	10	122512073	122512073	Human	4	name
405000190	CV3120163	single nucleotide variant	NM_002775.5(HTRA1):c.572+20T>C	not provided [RCV003827953]	benign	10	122489021	122489021	Human		name
405214781	CV3143088	single nucleotide variant	NM_002775.5(HTRA1):c.572+12C>T	not provided [RCV003846251]	likely benign	10	122489013	122489013	Human		name
405200503	CV3143454	single nucleotide variant	NM_002775.5(HTRA1):c.1120+5G>A	not provided [RCV003844440]	uncertain significance	10	122508775	122508775	Human		name
405196491	CV3146571	single nucleotide variant	NM_002775.5(HTRA1):c.473-13C>A	not provided [RCV003843926]	likely benign	10	122488889	122488889	Human		name
405290467	CV3219961	single nucleotide variant	NM_002775.5(HTRA1):c.1275-7G>A	HTRA1-related disorder [RCV003962287]	likely benign	10	122514184	122514184	Human		name , trait , alternate_id
597902473	CV3804507	single nucleotide variant	NM_002775.5(HTRA1):c.973-18A>G	not provided [RCV005152942]	likely benign	10	122507352	122507352	Human		name
28904981	CV868454	single nucleotide variant	NM_002775.5(HTRA1):c.777+14C>T	Macular degeneration [RCV001105824]\|not provided [RCV002558059]	benign\|uncertain significance	10	122489640	122489640	Human	2	name
127290136	CV1156377	single nucleotide variant	NM_002775.5(HTRA1):c.1178+18G>A	not provided [RCV001509661]	benign	10	122510171	122510171	Human		name
150473504	CV1234291	single nucleotide variant	NM_002775.5(HTRA1):c.777+167G>A	not provided [RCV001651610]	benign	10	122489793	122489793	Human		name
150436019	CV1249341	single nucleotide variant	NM_002775.5(HTRA1):c.1275-36C>T	CARASIL syndrome [RCV001703045]\|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001702227]\|not provided [RCV001666773]	benign	10	122514155	122514155	Human	5	name
150490969	CV1251114	single nucleotide variant	NM_002775.5(HTRA1):c.473-176C>G	not provided [RCV001674782]	benign	10	122488726	122488726	Human		name
150472434	CV1272489	single nucleotide variant	NM_002775.5(HTRA1):c.972+215G>A	not provided [RCV001695545]	benign	10	122507100	122507100	Human		name
152104290	CV1544663	single nucleotide variant	NM_002775.5(HTRA1):c.1006-20G>A	not provided [RCV002115744]	benign	10	122508636	122508636	Human		name
152036638	CV1605499	single nucleotide variant	NM_002775.5(HTRA1):c.1121-13G>A	not provided [RCV002107094]	likely benign	10	122510083	122510083	Human		name
156381621	CV1994845	single nucleotide variant	NM_002775.5(HTRA1):c.1178+12G>A	not provided [RCV002653703]	likely benign	10	122510165	122510165	Human		name
405180961	CV2914080	single nucleotide variant	NM_002775.5(HTRA1):c.1179-16T>G	not provided [RCV003563962]	uncertain significance	10	122511954	122511954	Human		name
405069773	CV3140154	single nucleotide variant	NM_002775.5(HTRA1):c.1178+17C>T	not provided [RCV003833309]	likely benign	10	122510170	122510170	Human		name
11603292	CV320494	single nucleotide variant	NM_002775.5(HTRA1):c.1274+14G>A	CARASIL syndrome [RCV001701939]\|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001701940]\|Macular degeneration [RCV000298544]\|not provided [RCV001518133]\|not specified [RCV001530169]	benign\|likely benign	10	122512079	122512079	Human	4	name
150437082	CV1235519	single nucleotide variant	NM_002775.5(HTRA1):c.1120+115C>G	not provided [RCV001644305]	benign	10	122508885	122508885	Human		name
150456016	CV1236828	deletion	NM_002775.5(HTRA1):c.1179-211del	not provided [RCV001648564]	benign	10	122511759	122511759	Human		name
150471978	CV1270183	deletion	NM_002775.5(HTRA1):c.1179-220del	not provided [RCV001695471]	benign	10	122511750	122511750	Human		name
150458877	CV1278841	single nucleotide variant	NM_002775.5(HTRA1):c.1120+254G>C	not provided [RCV001709458]	benign	10	122509024	122509024	Human		name
150437631	CV1286576	single nucleotide variant	NM_002775.5(HTRA1):c.1005+169G>A	not provided [RCV001724655]	benign	10	122507571	122507571	Human		name
10395508	CV171885	single nucleotide variant	NM_002775.5(HTRA1):c.472+4990G>T	not provided [RCV000190309]	not provided	10	122467114	122467115	Human	11	name
10395508	CV171885	single nucleotide variant	NM_002775.5(HTRA1):c.472+4990G>T	not provided [RCV000190309]	not provided	10	122467114	122467114	Human	11	name
150466686	CV1277446	microsatellite	NM_002775.5(HTRA1):c.1005+74TTGT[2]	not provided [RCV001710741]	benign	10	122507476	122507479	Human		name
402500891	CV2943586	single nucleotide variant	NM_002775.5(HTRA1):c.9C>A (p.Ile3=)	not provided [RCV003661551]	likely benign	10	122461661	122461661	Human		name
152027464	CV1636281	single nucleotide variant	NM_002775.5(HTRA1):c.15C>G (p.Arg5=)	not provided [RCV002085140]	likely benign	10	122461667	122461667	Human		name
405265644	CV3215568	single nucleotide variant	NM_002775.5(HTRA1):c.27C>G (p.Leu9=)	HTRA1-related disorder [RCV003946757]	likely benign	10	122461679	122461679	Human		name , trait , alternate_id
28897777	CV865524	single nucleotide variant	NM_002775.5(HTRA1):c.12G>T (p.Pro4=)	Macular degeneration [RCV001102735]\|not provided [RCV001815498]\|not specified [RCV005236602]	likely benign\|uncertain significance	10	122461664	122461664	Human	2	name
401903795	CV2809690	single nucleotide variant	NM_002775.5(HTRA1):c.84C>A (p.Gly28=)	not provided [RCV003394545]	likely benign	10	122461736	122461736	Human		name
401962580	CV2845185	single nucleotide variant	NM_002775.5(HTRA1):c.8T>A (p.Ile3Asn)	not provided [RCV003482646]	uncertain significance	10	122461660	122461660	Human		name
405063473	CV2926414	single nucleotide variant	NM_002775.5(HTRA1):c.70C>T (p.Leu24=)	not provided [RCV003580538]	likely benign	10	122461722	122461722	Human		name
15156470	CV737383	single nucleotide variant	NM_002775.5(HTRA1):c.96T>G (p.Pro32=)	not provided [RCV000902336]	likely benign	10	122461748	122461748	Human		name
28880160	CV859786	single nucleotide variant	NM_002775.5(HTRA1):c.34C>T (p.Leu12=)	Macular degeneration [RCV001102736]\|not provided [RCV001091418]	likely benign\|uncertain significance	10	122461686	122461686	Human	2	name
150431752	CV1246036	single nucleotide variant	NM_002775.5(HTRA1):c.165C>A (p.Gly55=)	not provided [RCV002073090]\|not specified [RCV001663448]	likely benign	10	122461817	122461817	Human		name
153304419	CV1687004	single nucleotide variant	NM_002775.5(HTRA1):c.126G>A (p.Glu42=)	not provided [RCV002262292]	likely benign	10	122461778	122461778	Human		name
156357395	CV1901298	single nucleotide variant	NM_002775.5(HTRA1):c.246G>C (p.Pro82=)	not provided [RCV002602262]	likely benign	10	122461898	122461898	Human		name
329373843	CV2452545	single nucleotide variant	NM_002775.5(HTRA1):c.20C>G (p.Ala7Gly)	Inborn genetic diseases [RCV003210527]\|not provided [RCV003482457]	uncertain significance	10	122461672	122461672	Human	1	name
405050313	CV3150849	single nucleotide variant	NM_002775.5(HTRA1):c.150G>A (p.Pro50=)	not provided [RCV003849453]	likely benign	10	122461802	122461802	Human		name
8601082	CV34176	single nucleotide variant	NM_002775.5(HTRA1):c.102C>T (p.Ala34=)	CARASIL syndrome [RCV000020489]\|Macular degeneration [RCV000334821]\|not provided [RCV001522700]	benign\|likely benign	10	122461754	122461754	Human	3	name
8601083	CV34177	single nucleotide variant	NM_002775.5(HTRA1):c.108G>C (p.Gly36=)	CARASIL syndrome [RCV000020490]\|Macular degeneration [RCV000265972]\|not provided [RCV001515967]\|not specified [RCV001794460]	benign\|likely benign	10	122461760	122461760	Human	3	name
8601084	CV34178	single nucleotide variant	NM_002775.5(HTRA1):c.108G>T (p.Gly36=)	CARASIL syndrome [RCV000020491]\|Macular degeneration [RCV000313539]\|not provided [RCV001522701]	benign\|likely benign	10	122461760	122461760	Human	3	name
597852137	CV3747063	single nucleotide variant	NM_002775.5(HTRA1):c.123C>T (p.Cys41=)	not provided [RCV005060692]	likely benign	10	122461775	122461775	Human		name
597955367	CV3841221	single nucleotide variant	NM_002775.5(HTRA1):c.204C>T (p.Cys68=)	not provided [RCV005191340]	likely benign	10	122461856	122461856	Human		name
598226027	CV3895720	duplication	NM_002775.5(HTRA1):c.35dup (p.Leu13fs)	CARASIL syndrome [RCV005362032]	uncertain significance	10	122461686	122461687	Human	2	name
15109144	CV752006	single nucleotide variant	NM_002775.5(HTRA1):c.180C>T (p.Asp60=)	not provided [RCV000916279]	likely benign	10	122461832	122461832	Human		name
15134841	CV783551	single nucleotide variant	NM_002775.5(HTRA1):c.144G>T (p.Pro48=)	not provided [RCV000981819]	likely benign	10	122461796	122461796	Human		name
28897774	CV865523	single nucleotide variant	NM_002775.5(HTRA1):c.10C>T (p.Pro4Ser)	Macular degeneration [RCV001102734]\|not provided [RCV005093488]	uncertain significance	10	122461662	122461662	Human	2	name
8646932	CV106449	single nucleotide variant	NM_002775.5(HTRA1):c.753C>T (p.Ile251=)	Macular degeneration [RCV000291036]\|not provided [RCV000086954]\|not specified [RCV001795157]	benign\|likely benign\|not provided	10	122489602	122489602	Human	2	name
151855483	CV1448712	single nucleotide variant	NM_002775.5(HTRA1):c.972C>T (p.Asn324=)	not provided [RCV001979469]	uncertain significance	10	122506885	122506885	Human		name
152154834	CV1520058	single nucleotide variant	NM_002775.5(HTRA1):c.672C>T (p.Asn224=)	not provided [RCV002140040]	likely benign	10	122489521	122489521	Human		name
152051312	CV1596847	single nucleotide variant	NM_002775.5(HTRA1):c.579G>A (p.Pro193=)	not provided [RCV002166913]	likely benign	10	122489428	122489428	Human		name
152067641	CV1600257	single nucleotide variant	NM_002775.5(HTRA1):c.603G>A (p.Val201=)	not provided [RCV002111006]	likely benign	10	122489452	122489452	Human		name
152086077	CV1633660	single nucleotide variant	NM_002775.5(HTRA1):c.996A>G (p.Leu332=)	not provided [RCV002113405]	benign	10	122507393	122507393	Human		name
9832094	CV165898	deletion	NM_002775.5(HTRA1):c.126del (p.Glu42fs)	CARASIL syndrome [RCV000157766]	pathogenic\|likely pathogenic\|not provided	10	122461778	122461778	Human	1	name
153349930	CV1693543	single nucleotide variant	NM_002775.5(HTRA1):c.92C>T (p.Ala31Val)	Inborn genetic diseases [RCV004982966]\|not provided [RCV002276362]	uncertain significance	10	122461744	122461744	Human	1	name
156114229	CV1958112	single nucleotide variant	NM_002775.5(HTRA1):c.702C>T (p.Asn234=)	not provided [RCV002592886]	likely benign	10	122489551	122489551	Human		name
156066155	CV1975433	single nucleotide variant	NM_002775.5(HTRA1):c.540C>T (p.Ala180=)	not provided [RCV002591134]	likely benign	10	122488969	122488969	Human		name
156097694	CV1981058	single nucleotide variant	NM_002775.5(HTRA1):c.879C>A (p.Thr293=)	not provided [RCV002622095]	likely benign\|conflicting interpretations of pathogenicity	10	122506792	122506792	Human		name
156200815	CV2092488	single nucleotide variant	NM_002775.5(HTRA1):c.624T>C (p.Ile208=)	not provided [RCV002917781]	likely benign	10	122489473	122489473	Human		name
156040438	CV2121503	single nucleotide variant	NM_002775.5(HTRA1):c.504A>G (p.Lys168=)	not provided [RCV002923894]	likely benign	10	122488933	122488933	Human		name
155994250	CV2126025	single nucleotide variant	NM_002775.5(HTRA1):c.417C>G (p.Ser139=)	not provided [RCV002974874]	likely benign	10	122462069	122462069	Human		name
401724546	CV2735736	duplication	NM_002775.5(HTRA1):c.272dup (p.Pro92fs)	not provided [RCV003312179]	pathogenic	10	122461923	122461924	Human		name
401828732	CV2743067	single nucleotide variant	NM_002775.5(HTRA1):c.74C>T (p.Ser25Phe)	not provided [RCV003325775]	uncertain significance	10	122461726	122461726	Human		name
405124906	CV2889470	single nucleotide variant	NM_002775.5(HTRA1):c.909C>T (p.Gly303=)	HTRA1-related disorder [RCV003946718]\|not provided [RCV003559389]	likely benign	10	122506822	122506822	Human		name , trait , alternate_id
405148728	CV2960176	single nucleotide variant	NM_002775.5(HTRA1):c.327C>G (p.Leu109=)	not provided [RCV003669855]	likely benign	10	122461979	122461979	Human		name
405227713	CV2963577	single nucleotide variant	NM_002775.5(HTRA1):c.756A>G (p.Ala252=)	not provided [RCV003681671]	likely benign	10	122489605	122489605	Human		name
405235926	CV2976507	single nucleotide variant	NM_002775.5(HTRA1):c.92C>A (p.Ala31Glu)	not provided [RCV003682975]	uncertain significance	10	122461744	122461744	Human		name
11601813	CV309628	single nucleotide variant	NM_002775.5(HTRA1):c.385C>T (p.Leu129=)	Macular degeneration [RCV000285342]	uncertain significance	10	122462037	122462037	Human	2	name
11607684	CV309632	single nucleotide variant	NM_002775.5(HTRA1):c.843C>T (p.Ala281=)	Macular degeneration [RCV000346013]\|not provided [RCV003718161]	likely benign\|uncertain significance	10	122506756	122506756	Human	2	name
405213406	CV3142678	single nucleotide variant	NM_002775.5(HTRA1):c.73T>C (p.Ser25Pro)	not provided [RCV003846035]	uncertain significance	10	122461725	122461725	Human		name
405169522	CV3149857	single nucleotide variant	NM_002775.5(HTRA1):c.645C>T (p.Ile215=)	not provided [RCV003841328]	likely benign	10	122489494	122489494	Human		name
405050089	CV3150782	single nucleotide variant	NM_002775.5(HTRA1):c.300G>A (p.Thr100=)	not provided [RCV003849386]	likely benign	10	122461952	122461952	Human		name
11665218	CV320969	single nucleotide variant	NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)	CARASIL syndrome [RCV000576298]\|Macular degeneration [RCV000259894]\|not provided [RCV001511034]\|not specified [RCV001795917]	benign\|likely benign	10	122461711	122461711	Human	3	name
11665566	CV320970	single nucleotide variant	NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln)	Macular degeneration [RCV000279664]\|not provided [RCV000711026]	benign\|likely benign	10	122461729	122461729	Human	2	name
11611871	CV320983	single nucleotide variant	NM_002775.5(HTRA1):c.879C>T (p.Thr293=)	Macular degeneration [RCV000400395]\|not provided [RCV000761751]\|not specified [RCV000517598]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	122506792	122506792	Human	2	name
405282497	CV3212919	single nucleotide variant	NM_002775.5(HTRA1):c.840C>T (p.Val280=)	HTRA1-related disorder [RCV003957038]	likely benign	10	122506753	122506753	Human		name , trait , alternate_id
405267499	CV3219257	single nucleotide variant	NM_002775.5(HTRA1):c.837G>A (p.Val279=)	HTRA1-related disorder [RCV003969524]	likely benign	10	122506750	122506750	Human		name , trait , alternate_id
405779853	CV3270712	single nucleotide variant	NM_002775.5(HTRA1):c.62C>T (p.Ser21Leu)	Inborn genetic diseases [RCV004397441]\|not provided [RCV005065041]	uncertain significance	10	122461714	122461714	Human	1	name
405779859	CV3270713	single nucleotide variant	NM_002775.5(HTRA1):c.76C>T (p.Arg26Trp)	Inborn genetic diseases [RCV004397442]	uncertain significance	10	122461728	122461728	Human	1	name
596945274	CV3547787	single nucleotide variant	NM_002775.5(HTRA1):c.990C>A (p.Gly330=)	not provided [RCV004809118]	likely benign	10	122507387	122507387	Human		name
597698441	CV3686228	single nucleotide variant	NM_002775.5(HTRA1):c.53C>A (p.Ala18Glu)	Inborn genetic diseases [RCV004987582]	uncertain significance	10	122461705	122461705	Human	1	name
597879500	CV3744711	single nucleotide variant	NM_002775.5(HTRA1):c.86G>A (p.Arg29His)	not provided [RCV005069736]	uncertain significance	10	122461738	122461738	Human		name
597969869	CV3753510	single nucleotide variant	NM_002775.5(HTRA1):c.546C>T (p.Ala182=)	not provided [RCV005083995]	likely benign	10	122488975	122488975	Human		name
12905805	CV413301	single nucleotide variant	NM_002775.5(HTRA1):c.957C>T (p.Thr319=)	HTRA1-related disorder [RCV004748785]\|not provided [RCV000488019]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	122506870	122506870	Human		name , trait , alternate_id
15190090	CV737384	single nucleotide variant	NM_002775.5(HTRA1):c.351G>T (p.Pro117=)	not provided [RCV000909847]	likely benign	10	122462003	122462003	Human		name
15140421	CV752007	single nucleotide variant	NM_002775.5(HTRA1):c.846C>T (p.Ile282=)	not provided [RCV000921674]	likely benign	10	122506759	122506759	Human		name
15138972	CV783552	single nucleotide variant	NM_002775.5(HTRA1):c.465C>T (p.Cys155=)	not provided [RCV000982558]	likely benign	10	122462117	122462117	Human		name
28904983	CV865529	single nucleotide variant	NM_002775.5(HTRA1):c.834C>T (p.Phe278=)	Macular degeneration [RCV001105825]\|not provided [RCV002067784]	benign\|likely benign	10	122506747	122506747	Human	2	name
28904986	CV865530	single nucleotide variant	NM_002775.5(HTRA1):c.840C>A (p.Val280=)	Macular degeneration [RCV001105826]	uncertain significance	10	122506753	122506753	Human	2	name
151726425	CV1433496	single nucleotide variant	NM_002775.5(HTRA1):c.152A>G (p.Glu51Gly)	not provided [RCV001983733]	uncertain significance	10	122461804	122461804	Human		name
151727401	CV1499140	single nucleotide variant	NM_002775.5(HTRA1):c.124G>A (p.Glu42Lys)	not provided [RCV002040855]	uncertain significance	10	122461776	122461776	Human		name
151789866	CV1515291	single nucleotide variant	NM_002775.5(HTRA1):c.127C>T (p.Pro43Ser)	not provided [RCV002027117]	uncertain significance	10	122461779	122461779	Human		name
152111594	CV1520358	single nucleotide variant	NM_002775.5(HTRA1):c.1173G>A (p.Thr391=)	not provided [RCV002196847]	likely benign	10	122510148	122510148	Human		name
152044820	CV1534541	single nucleotide variant	NM_002775.5(HTRA1):c.1008C>T (p.Asp336=)	not provided [RCV002088425]	likely benign	10	122508658	122508658	Human		name
152115761	CV1540862	single nucleotide variant	NM_002775.5(HTRA1):c.1389C>T (p.Arg463=)	not provided [RCV002197376]	likely benign	10	122514305	122514305	Human		name
152088186	CV1541273	single nucleotide variant	NM_002775.5(HTRA1):c.1314T>C (p.Asn438=)	not provided [RCV002171479]	likely benign	10	122514230	122514230	Human		name
152130620	CV1567744	single nucleotide variant	NM_002775.5(HTRA1):c.1296C>T (p.Asp432=)	not provided [RCV002218019]	likely benign	10	122514212	122514212	Human		name
152162246	CV1584764	single nucleotide variant	NM_002775.5(HTRA1):c.1323C>T (p.Ser441=)	not provided [RCV002123413]	likely benign	10	122514239	122514239	Human		name
152134122	CV1590347	single nucleotide variant	NM_002775.5(HTRA1):c.1095G>C (p.Thr365=)	not provided [RCV002218475]	likely benign	10	122508745	122508745	Human		name
152156492	CV1615784	single nucleotide variant	NM_002775.5(HTRA1):c.1413C>T (p.Ile471=)	not provided [RCV002158926]	likely benign	10	122514329	122514329	Human		name
152978493	CV1671666	single nucleotide variant	NM_002775.5(HTRA1):c.283G>T (p.Val95Leu)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002227771]	uncertain significance	10	122461935	122461935	Human	1	name
155644002	CV1708321	deletion	NM_002775.5(HTRA1):c.671del (p.Asn224fs)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002290310]	likely pathogenic	10	122489519	122489519	Human	1	name
156212821	CV2018950	single nucleotide variant	NM_002775.5(HTRA1):c.187G>T (p.Gly63Cys)	not provided [RCV002700692]	uncertain significance	10	122461839	122461839	Human		name
156021054	CV2105694	single nucleotide variant	NM_002775.5(HTRA1):c.148C>G (p.Pro50Ala)	not provided [RCV002923064]	uncertain significance	10	122461800	122461800	Human		name
156115702	CV2117523	single nucleotide variant	NM_002775.5(HTRA1):c.1011T>C (p.Gly337=)	not provided [RCV002953298]	likely benign	10	122508661	122508661	Human		name
155977458	CV2146656	single nucleotide variant	NM_002775.5(HTRA1):c.1158A>C (p.Arg386=)	not provided [RCV003016218]	likely benign	10	122510133	122510133	Human		name
156262700	CV2169974	single nucleotide variant	NM_002775.5(HTRA1):c.1230A>C (p.Ser410=)	not provided [RCV003026711]	likely benign	10	122512021	122512021	Human		name
329952288	CV2671635	single nucleotide variant	NM_002775.5(HTRA1):c.205G>C (p.Gly69Arg)	Inborn genetic diseases [RCV003274364]\|not provided [RCV003237031]	uncertain significance	10	122461857	122461857	Human	1	name
401903798	CV2809691	single nucleotide variant	NM_002775.5(HTRA1):c.112C>G (p.Pro38Ala)	not provided [RCV003394546]	uncertain significance	10	122461764	122461764	Human		name
405021365	CV3001915	single nucleotide variant	NM_002775.5(HTRA1):c.1254T>C (p.Ile418=)	not provided [RCV003694724]	likely benign	10	122512045	122512045	Human		name
405122962	CV3020971	single nucleotide variant	NM_002775.5(HTRA1):c.263A>T (p.Gln88Leu)	not provided [RCV003700957]	uncertain significance	10	122461915	122461915	Human		name
405223745	CV3061139	single nucleotide variant	NM_002775.5(HTRA1):c.1347C>T (p.Ser449=)	not provided [RCV003733587]	likely benign	10	122514263	122514263	Human		name
405206345	CV3064304	single nucleotide variant	NM_002775.5(HTRA1):c.161A>C (p.Glu54Ala)	not provided [RCV003731360]	uncertain significance	10	122461813	122461813	Human		name
11610312	CV309626	single nucleotide variant	NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg)	HTRA1-related disorder [RCV003401285]\|Inborn genetic diseases [RCV002520541]\|Macular degeneration [RCV000379814]\|not provided [RCV001172043]\|not specified [RCV005418067]	uncertain significance	10	122461897	122461897	Human	3	name , trait , alternate_id
405210034	CV3117340	single nucleotide variant	NM_002775.5(HTRA1):c.1152T>C (p.Gly384=)	not provided [RCV003823127]	likely benign	10	122510127	122510127	Human		name
405233499	CV3145007	single nucleotide variant	NM_002775.5(HTRA1):c.1086G>A (p.Lys362=)	not provided [RCV003853264]	likely benign	10	122508736	122508736	Human		name
405245779	CV3161874	single nucleotide variant	NM_002775.5(HTRA1):c.1134C>T (p.Thr378=)	not provided [RCV003868587]	likely benign	10	122510109	122510109	Human		name
405295347	CV3209366	single nucleotide variant	NM_002775.5(HTRA1):c.1182A>G (p.Lys394=)	HTRA1-related disorder [RCV003937251]	likely benign	10	122511973	122511973	Human		name , trait , alternate_id
11602602	CV320985	single nucleotide variant	NM_002775.5(HTRA1):c.1221C>T (p.Asp407=)	Macular degeneration [RCV000292204]\|not provided [RCV000894560]\|not specified [RCV004999270]	benign\|likely benign	10	122512012	122512012	Human	2	name
405294394	CV3214894	single nucleotide variant	NM_002775.5(HTRA1):c.1095G>A (p.Thr365=)	HTRA1-related disorder [RCV003934295]	likely benign	10	122508745	122508745	Human		name , trait , alternate_id
405779841	CV3270710	single nucleotide variant	NM_002775.5(HTRA1):c.118C>G (p.Arg40Gly)	Inborn genetic diseases [RCV004397439]	uncertain significance	10	122461770	122461770	Human	1	name
405853990	CV3395463	single nucleotide variant	NM_002775.5(HTRA1):c.260T>G (p.Leu87Arg)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV004555719]	uncertain significance	10	122461912	122461912	Human	1	name
597698422	CV3686225	single nucleotide variant	NM_002775.5(HTRA1):c.107G>C (p.Gly36Ala)	Inborn genetic diseases [RCV004987579]	uncertain significance	10	122461759	122461759	Human	1	name
597698436	CV3686227	single nucleotide variant	NM_002775.5(HTRA1):c.198G>C (p.Glu66Asp)	Inborn genetic diseases [RCV004987581]	uncertain significance	10	122461850	122461850	Human	1	name
597906249	CV3738738	single nucleotide variant	NM_002775.5(HTRA1):c.101C>T (p.Ala34Val)	not provided [RCV005072972]	uncertain significance	10	122461753	122461753	Human		name
597832321	CV3751333	single nucleotide variant	NM_002775.5(HTRA1):c.151G>C (p.Glu51Gln)	not provided [RCV005084879]	uncertain significance	10	122461803	122461803	Human		name
597935955	CV3845339	single nucleotide variant	NM_002775.5(HTRA1):c.1332C>T (p.Ser444=)	not provided [RCV005186652]	likely benign	10	122514248	122514248	Human		name
598256689	CV3968458	single nucleotide variant	NM_002775.5(HTRA1):c.140C>A (p.Pro47Gln)	Inborn genetic diseases [RCV005346846]	uncertain significance	10	122461792	122461792	Human	1	name
616937797	CV4014820	single nucleotide variant	NM_002775.5(HTRA1):c.196G>C (p.Glu66Gln)	not provided [RCV005411836]	uncertain significance	10	122461848	122461848	Human		name
13521525	CV495418	single nucleotide variant	NM_002775.5(HTRA1):c.267C>A (p.Cys89Ter)	not provided [RCV000599520]	pathogenic\|likely pathogenic	10	122461919	122461919	Human		name
13612611	CV514225	deletion	NM_002775.5(HTRA1):c.543del (p.Ala182fs)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627025]\|not provided [RCV001860484]	pathogenic	10	122488972	122488972	Human	1	name
15181545	CV723823	single nucleotide variant	NM_002775.5(HTRA1):c.1065C>T (p.Ile355=)	not provided [RCV000885790]	likely benign	10	122508715	122508715	Human		name
15104195	CV752008	single nucleotide variant	NM_002775.5(HTRA1):c.1350C>T (p.Asp450=)	Macular degeneration [RCV001102842]\|not provided [RCV000915305]	likely benign\|uncertain significance	10	122514266	122514266	Human	2	name
15114071	CV752009	single nucleotide variant	NM_002775.5(HTRA1):c.1416A>T (p.Thr472=)	not provided [RCV000917208]	likely benign	10	122514332	122514332	Human		name
15195071	CV767656	single nucleotide variant	NM_002775.5(HTRA1):c.1425C>T (p.Pro475=)	not provided [RCV000933828]	likely benign	10	122514341	122514341	Human		name
28902423	CV865525	single nucleotide variant	NM_002775.5(HTRA1):c.133C>T (p.Arg45Cys)	Macular degeneration [RCV001104658]	uncertain significance	10	122461785	122461785	Human	2	name
28902426	CV865526	single nucleotide variant	NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro)	Macular degeneration [RCV001104659]\|not provided [RCV003130155]	conflicting interpretations of pathogenicity\|uncertain significance	10	122461828	122461828	Human	2	name
38597870	CV964340	single nucleotide variant	NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001253237]	uncertain significance	10	122461790	122461790	Human	1	name
42723053	CV966777	single nucleotide variant	NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter)	CARASIL syndrome [RCV001293044]	likely pathogenic	10	122461887	122461887	Human	1	name
150338180	CV1173844	single nucleotide variant	NM_002775.5(HTRA1):c.820C>G (p.Arg274Gly)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001542097]	likely pathogenic	10	122506733	122506733	Human	1	name
150339489	CV1174829	single nucleotide variant	NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV004785272]\|HTRA1-related cerebral small vessel disease [RCV004587176]\|Vascular dementia [RCV002051728]\|not provided [RCV001543535]	pathogenic\|likely pathogenic\|uncertain significance	10	122506760	122506760	Human	3	name , trait
150443098	CV1264544	microsatellite	NM_002775.5(HTRA1):c.1179-216_1179-204del	not provided [RCV001679528]	benign	10	122511738	122511750	Human		name
150466379	CV1277395	deletion	NM_002775.5(HTRA1):c.1179-226_1179-225del	not provided [RCV001710690]	benign	10	122511733	122511734	Human		name
150438085	CV1286788	single nucleotide variant	NM_002775.5(HTRA1):c.983C>T (p.Ser328Leu)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001724734]	uncertain significance	10	122507380	122507380	Human	1	name
150528531	CV1288361	single nucleotide variant	NM_002775.5(HTRA1):c.518C>T (p.Ala173Val)	not provided [RCV001726829]	uncertain significance	10	122488947	122488947	Human		name
150549976	CV1299760	single nucleotide variant	NM_002775.5(HTRA1):c.893G>A (p.Ser298Asn)	not provided [RCV001752686]	uncertain significance	10	122506806	122506806	Human		name
150547553	CV1316080	single nucleotide variant	NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001785356]\|not provided [RCV002291765]	pathogenic\|likely pathogenic	10	122488925	122488925	Human	1	name
151351674	CV1323543	single nucleotide variant	NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln)	CARASIL syndrome [RCV001806399]\|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001810331]\|not provided [RCV002542419]	pathogenic\|likely pathogenic	10	122506818	122506818	Human	2	name
151349160	CV1324361	single nucleotide variant	NM_002775.5(HTRA1):c.590G>A (p.Arg197Gln)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001808278]	uncertain significance	10	122489439	122489439	Human	1	name
151749506	CV1338368	single nucleotide variant	NM_002775.5(HTRA1):c.743A>G (p.Lys248Arg)	not provided [RCV001927378]	uncertain significance	10	122489592	122489592	Human		name
151776301	CV1358718	single nucleotide variant	NM_002775.5(HTRA1):c.434C>A (p.Pro145Gln)	Inborn genetic diseases [RCV002562793]\|not provided [RCV001950641]	uncertain significance	10	122462086	122462086	Human	1	name
151783079	CV1369939	single nucleotide variant	NM_002775.5(HTRA1):c.370A>G (p.Asn124Asp)	not provided [RCV001930622]	uncertain significance	10	122462022	122462022	Human		name
151870756	CV1371808	single nucleotide variant	NM_002775.5(HTRA1):c.491G>A (p.Ser164Asn)	not provided [RCV001960391]	uncertain significance	10	122488920	122488920	Human		name
151854289	CV1372619	single nucleotide variant	NM_002775.5(HTRA1):c.728A>G (p.Lys243Arg)	not provided [RCV001996345]	uncertain significance	10	122489577	122489577	Human		name
151866620	CV1381500	single nucleotide variant	NM_002775.5(HTRA1):c.547G>A (p.Val183Met)	not provided [RCV001905962]	uncertain significance	10	122488976	122488976	Human		name
151858780	CV1398348	single nucleotide variant	NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp)	CARASIL syndrome [RCV002479734]\|Inborn genetic diseases [RCV002642139]\|not provided [RCV002017499]	uncertain significance	10	122506733	122506733	Human	4	name
151763654	CV1403046	single nucleotide variant	NM_002775.5(HTRA1):c.743A>C (p.Lys248Thr)	not provided [RCV001914277]	uncertain significance	10	122489592	122489592	Human		name
151804872	CV1432454	single nucleotide variant	NM_002775.5(HTRA1):c.466G>C (p.Gly156Arg)	Inborn genetic diseases [RCV004042412]\|not provided [RCV001991284]	uncertain significance	10	122462118	122462118	Human	1	name
151776236	CV1439509	single nucleotide variant	NM_002775.5(HTRA1):c.599C>T (p.Pro200Leu)	CARASIL syndrome [RCV004813202]\|not provided [RCV002009316]	uncertain significance	10	122489448	122489448	Human	1	name
151759744	CV1459307	single nucleotide variant	NM_002775.5(HTRA1):c.400G>A (p.Ala134Thr)	not provided [RCV002044135]	uncertain significance	10	122462052	122462052	Human		name
151728428	CV1486691	single nucleotide variant	NM_002775.5(HTRA1):c.679C>T (p.Arg227Trp)	HTRA1-related disorder [RCV004749761]\|not provided [RCV001891991]	uncertain significance	10	122489528	122489528	Human		name , trait , alternate_id
151781793	CV1486763	single nucleotide variant	NM_002775.5(HTRA1):c.710C>T (p.Thr237Ile)	not provided [RCV001915947]	uncertain significance	10	122489559	122489559	Human		name
9589594	CV165895	single nucleotide variant	NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln)	CARASIL syndrome [RCV000144147]\|not provided [RCV003556181]	pathogenic\|likely pathogenic\|not provided	10	122506734	122506734	Human	1	name
9589595	CV165896	single nucleotide variant	NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu)	CARASIL syndrome [RCV000144148]\|HTRA1-related cerebral small vessel disease [RCV003398782]\|not provided [RCV001091420]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	10	122506767	122506767	Human	1	name , trait
9831528	CV165899	single nucleotide variant	NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr)	CARASIL syndrome [RCV000157765]\|Vascular dementia [RCV001263182]\|not provided [RCV001797058]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	10	122506874	122506874	Human	2	name
152999736	CV1683303	single nucleotide variant	NM_002775.5(HTRA1):c.703G>A (p.Gly235Ser)	See cases [RCV002252487]	uncertain significance	10	122489552	122489552	Human		name
155266496	CV1699062	single nucleotide variant	NM_002775.5(HTRA1):c.958G>A (p.Asp320Asn)	Age related macular degeneration 7 [RCV002282856]\|HTRA1-related disorder [RCV003943344]\|not provided [RCV003325599]	pathogenic\|uncertain significance	10	122506871	122506871	Human	1	name , trait , alternate_id
155642937	CV1707576	single nucleotide variant	NM_002775.5(HTRA1):c.857T>C (p.Phe286Ser)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002289037]	uncertain significance	10	122506770	122506770	Human	1	name
155800852	CV1863847	single nucleotide variant	NM_002775.5(HTRA1):c.940A>G (p.Met314Val)	not provided [RCV002474270]	uncertain significance	10	122506853	122506853	Human		name
156407718	CV1957587	single nucleotide variant	NM_002775.5(HTRA1):c.992C>T (p.Pro331Leu)	not provided [RCV002586310]	uncertain significance	10	122507389	122507389	Human		name
156120452	CV1969149	single nucleotide variant	NM_002775.5(HTRA1):c.497G>A (p.Arg166His)	CARASIL syndrome [RCV005412426]\|not provided [RCV002593107]	likely pathogenic\|uncertain significance\|not provided	10	122488926	122488926	Human	2	name
156010946	CV1991889	single nucleotide variant	NM_002775.5(HTRA1):c.523G>C (p.Val175Leu)	not provided [RCV002618901]	conflicting interpretations of pathogenicity\|uncertain significance	10	122488952	122488952	Human		name
156212232	CV2028467	single nucleotide variant	NM_002775.5(HTRA1):c.809C>T (p.Ser270Phe)	not provided [RCV002711807]	uncertain significance	10	122506722	122506722	Human		name
156288164	CV2047075	single nucleotide variant	NM_002775.5(HTRA1):c.470A>G (p.Gln157Arg)	not provided [RCV002770652]	uncertain significance	10	122462122	122462122	Human		name
156314173	CV2107807	single nucleotide variant	NM_002775.5(HTRA1):c.782A>G (p.Lys261Arg)	Inborn genetic diseases [RCV004632096]\|not provided [RCV002937343]	uncertain significance	10	122506695	122506695	Human	1	name
10768757	CV222926	single nucleotide variant	NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206925]	pathogenic	10	122488926	122488926	Human	1	name
10768799	CV222927	single nucleotide variant	NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206984]	pathogenic	10	122488946	122488946	Human	1	name
10768738	CV222928	single nucleotide variant	NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206899]	pathogenic	10	122506765	122506765	Human	1	name
8597537	CV22527	single nucleotide variant	NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)	CARASIL syndrome [RCV000007917]\|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001250521]\|Seizure [RCV001003543]\|Small vessel cerebrovascular disease [RCV001003928]\|not provided [RCV001851726]	pathogenic\|likely pathogenic	10	122506817	122506817	Human	7	name
8597538	CV22528	single nucleotide variant	NM_002775.5(HTRA1):c.889G>A (p.Val297Met)	CARASIL syndrome [RCV000007918]	pathogenic	10	122506802	122506802	Human	1	name
8597539	CV22529	single nucleotide variant	NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr)	CARASIL syndrome [RCV000007919]\|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV005414319]	pathogenic	10	122489603	122489603	Human	2	name
243060109	CV2407913	single nucleotide variant	NM_002775.5(HTRA1):c.989G>A (p.Gly330Asp)	not provided [RCV003135694]	uncertain significance	10	122507386	122507386	Human		name
243060110	CV2407914	single nucleotide variant	NM_002775.5(HTRA1):c.430C>T (p.Arg144Trp)	not provided [RCV003135695]	uncertain significance	10	122462082	122462082	Human		name
329395927	CV2463078	single nucleotide variant	NM_002775.5(HTRA1):c.809C>A (p.Ser270Tyr)	Inborn genetic diseases [RCV003219324]	uncertain significance	10	122506722	122506722	Human	1	name
329352675	CV2470302	single nucleotide variant	NM_002775.5(HTRA1):c.398G>A (p.Arg133His)	Inborn genetic diseases [RCV003200682]	uncertain significance	10	122462050	122462050	Human	1	name
329392126	CV2470403	single nucleotide variant	NM_002775.5(HTRA1):c.775C>G (p.Gln259Glu)	Inborn genetic diseases [RCV003217609]	likely benign	10	122489624	122489624	Human	1	name
401740376	CV2738711	single nucleotide variant	NM_002775.5(HTRA1):c.646G>A (p.Val216Met)	not provided [RCV003318105]	uncertain significance	10	122489495	122489495	Human		name
401916857	CV2797648	single nucleotide variant	NM_002775.5(HTRA1):c.691G>A (p.Glu231Lys)	HTRA1-related disorder [RCV003429079]	uncertain significance	10	122489540	122489540	Human		name , trait , alternate_id
401934981	CV2803123	single nucleotide variant	NM_002775.5(HTRA1):c.539C>T (p.Ala180Val)	HTRA1-related disorder [RCV003412283]	uncertain significance	10	122488968	122488968	Human		name , trait , alternate_id
401903800	CV2809692	single nucleotide variant	NM_002775.5(HTRA1):c.338C>T (p.Ala113Val)	not provided [RCV003394547]	uncertain significance	10	122461990	122461990	Human		name
401903801	CV2809693	single nucleotide variant	NM_002775.5(HTRA1):c.806G>A (p.Arg269His)	not provided [RCV003394548]	uncertain significance	10	122506719	122506719	Human		name
405027029	CV2853369	single nucleotide variant	NM_002775.5(HTRA1):c.910G>C (p.Gly304Arg)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV003494559]	uncertain significance	10	122506823	122506823	Human	1	name
405195345	CV2868732	single nucleotide variant	NM_002775.5(HTRA1):c.859T>C (p.Ser287Pro)	not provided [RCV003550795]	uncertain significance	10	122506772	122506772	Human		name
405224223	CV2887711	single nucleotide variant	NM_002775.5(HTRA1):c.437C>G (p.Pro146Arg)	not provided [RCV003554383]	uncertain significance	10	122462089	122462089	Human		name
405188137	CV2917807	single nucleotide variant	NM_002775.5(HTRA1):c.569G>A (p.Arg190His)	not provided [RCV003564627]	uncertain significance	10	122488998	122488998	Human		name
405002434	CV3016155	single nucleotide variant	NM_002775.5(HTRA1):c.610G>A (p.Gly204Arg)	not provided [RCV003693306]	uncertain significance	10	122489459	122489459	Human		name
405106974	CV3136145	single nucleotide variant	NM_002775.5(HTRA1):c.970A>G (p.Asn324Asp)	not provided [RCV003835491]	uncertain significance	10	122506883	122506883	Human		name
405124704	CV3136455	single nucleotide variant	NM_002775.5(HTRA1):c.632A>C (p.Glu211Ala)	not provided [RCV003837785]	uncertain significance	10	122489481	122489481	Human		name
404997676	CV3172994	single nucleotide variant	NM_002775.5(HTRA1):c.838G>A (p.Val280Ile)	not provided [RCV003882276]	uncertain significance	10	122506751	122506751	Human		name
407465340	CV3444243	single nucleotide variant	NM_002775.5(HTRA1):c.526G>T (p.Val176Leu)	Inborn genetic diseases [RCV004635340]	uncertain significance	10	122488955	122488955	Human	1	name
408369859	CV3502875	single nucleotide variant	NM_002775.5(HTRA1):c.645C>G (p.Ile215Met)	not provided [RCV004723996]	uncertain significance	10	122489494	122489494	Human		name
408390119	CV3519208	single nucleotide variant	NM_002775.5(HTRA1):c.506A>T (p.Tyr169Phe)	not provided [RCV004762517]	uncertain significance	10	122488935	122488935	Human		name
596920454	CV3534635	single nucleotide variant	NM_002775.5(HTRA1):c.443T>A (p.Ile148Asn)	not specified [RCV004782196]	uncertain significance	10	122462095	122462095	Human		name
597915829	CV3740765	single nucleotide variant	NM_002775.5(HTRA1):c.805C>T (p.Arg269Cys)	not provided [RCV005074102]	uncertain significance	10	122506718	122506718	Human		name
597879895	CV3826314	single nucleotide variant	NM_002775.5(HTRA1):c.418G>A (p.Glu140Lys)	not provided [RCV005178010]	uncertain significance	10	122462070	122462070	Human		name
597975802	CV3828704	single nucleotide variant	NM_002775.5(HTRA1):c.386T>G (p.Leu129Arg)	not provided [RCV005169333]	uncertain significance	10	122462038	122462038	Human		name
598226015	CV3895718	single nucleotide variant	NM_002775.5(HTRA1):c.941T>C (p.Met314Thr)	CARASIL syndrome [RCV005362030]	uncertain significance	10	122506854	122506854	Human	2	name
8602165	CV39200	single nucleotide variant	NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg)	CARASIL syndrome [RCV000023168]\|not provided [RCV001852016]	pathogenic\|likely pathogenic	10	122506796	122506796	Human	1	name
598256692	CV3968459	single nucleotide variant	NM_002775.5(HTRA1):c.325C>T (p.Leu109Phe)	Inborn genetic diseases [RCV005346847]	uncertain significance	10	122461977	122461977	Human	1	name
616939879	CV4014404	single nucleotide variant	NM_002775.5(HTRA1):c.629C>T (p.Ser210Leu)	not provided [RCV005413898]	uncertain significance	10	122489478	122489478	Human		name
12905589	CV413300	single nucleotide variant	NM_002775.5(HTRA1):c.451C>T (p.Gln151Ter)	not provided [RCV000487710]	likely pathogenic	10	122462103	122462103	Human		name
13445810	CV437879	single nucleotide variant	NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter)	CARASIL syndrome [RCV003989546]\|not provided [RCV000512888]	pathogenic\|likely pathogenic\|uncertain significance	10	122489438	122489438	Human	1	name
13481808	CV441364	single nucleotide variant	NM_002775.5(HTRA1):c.415T>G (p.Ser139Ala)	not provided [RCV001851441]\|not specified [RCV000517689]	likely benign\|uncertain significance	10	122462067	122462067	Human		name
13485469	CV441365	single nucleotide variant	NM_002775.5(HTRA1):c.523G>A (p.Val175Met)	not provided [RCV001644604]	uncertain significance	10	122488952	122488952	Human		name
13478916	CV441366	single nucleotide variant	NM_002775.5(HTRA1):c.616G>A (p.Gly206Arg)	not specified [RCV000516829]	uncertain significance	10	122489465	122489465	Human		name
13519309	CV486046	single nucleotide variant	NM_002775.5(HTRA1):c.888C>G (p.Ile296Met)	not provided [RCV000585556]	uncertain significance	10	122506801	122506801	Human		name
13612599	CV514223	single nucleotide variant	NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627023]	likely pathogenic	10	122462011	122462011	Human	1	name
13612607	CV514224	single nucleotide variant	NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627024]	likely pathogenic	10	122488965	122488965	Human	1	name
13612617	CV514226	single nucleotide variant	NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627026]\|not specified [RCV005407820]	pathogenic\|uncertain significance	10	122489616	122489616	Human	1	name
13612624	CV514227	single nucleotide variant	NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627027]	likely pathogenic	10	122506740	122506740	Human	1	name
13612633	CV514228	single nucleotide variant	NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627028]\|not provided [RCV001860485]	pathogenic	10	122506778	122506778	Human	1	name
13612642	CV514229	single nucleotide variant	NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627029]	likely pathogenic	10	122506884	122506884	Human	1	name
13785976	CV550880	single nucleotide variant	NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys)	CARASIL syndrome [RCV000678044]	pathogenic	10	122489463	122489463	Human	1	name
13808732	CV577146	single nucleotide variant	NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser)	not provided [RCV000711025]\|not specified [RCV003235372]	uncertain significance	10	122488946	122488946	Human		name
15192784	CV723822	single nucleotide variant	NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser)	Macular degeneration [RCV001104660]\|not provided [RCV000888759]\|not specified [RCV004997467]	benign	10	122461989	122461989	Human	2	name
21073538	CV793364	single nucleotide variant	NM_002775.5(HTRA1):c.884G>A (p.Gly295Glu)	not provided [RCV000991734]	uncertain significance	10	122506797	122506797	Human		name
21073677	CV796373	single nucleotide variant	NM_002775.5(HTRA1):c.323G>T (p.Gly108Val)	not provided [RCV000994522]	uncertain significance	10	122461975	122461975	Human		name
26903882	CV858653	single nucleotide variant	NM_002775.5(HTRA1):c.660C>G (p.His220Gln)	CARASIL syndrome [RCV001090042]\|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV005245721]\|not provided [RCV002554804]	likely pathogenic\|uncertain significance	10	122489509	122489509	Human	2	name
28880168	CV859787	single nucleotide variant	NM_002775.5(HTRA1):c.451C>A (p.Gln151Lys)	CARASIL syndrome [RCV005359864]\|HTRA1-related disorder [RCV004749604]\|Macular degeneration [RCV001104661]\|not provided [RCV001091419]	uncertain significance	10	122462103	122462103	Human	4	name , trait , alternate_id
28904977	CV865527	single nucleotide variant	NM_002775.5(HTRA1):c.578C>T (p.Pro193Leu)	Inborn genetic diseases [RCV004032113]\|Macular degeneration [RCV001105822]\|not provided [RCV002558058]	uncertain significance	10	122489427	122489427	Human	3	name
28904978	CV865528	single nucleotide variant	NM_002775.5(HTRA1):c.770A>C (p.Asp257Ala)	Macular degeneration [RCV001105823]	uncertain significance	10	122489619	122489619	Human	2	name
28908842	CV865531	single nucleotide variant	NM_002775.5(HTRA1):c.844A>C (p.Ile282Leu)	Macular degeneration [RCV001108055]	uncertain significance	10	122506757	122506757	Human	2	name
39456602	CV965880	single nucleotide variant	NM_002775.5(HTRA1):c.835G>A (p.Val279Met)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001255607]\|not provided [RCV001726471]	uncertain significance	10	122506748	122506748	Human	1	name
150508172	CV1244761	single nucleotide variant	NM_002775.5(HTRA1):c.1348G>A (p.Asp450Asn)	not provided [RCV001659010]	uncertain significance	10	122514264	122514264	Human		name
150431753	CV1246037	single nucleotide variant	NM_002775.5(HTRA1):c.1048G>A (p.Gly350Arg)	not provided [RCV001663449]	uncertain significance	10	122508698	122508698	Human		name
151348041	CV1321772	single nucleotide variant	NM_002775.5(HTRA1):c.1274C>T (p.Ala425Val)	CARASIL syndrome [RCV001802756]	pathogenic	10	122512065	122512065	Human	1	name
151353130	CV1326026	single nucleotide variant	NM_002775.5(HTRA1):c.1423C>G (p.Pro475Ala)	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [RCV003994335]\|not provided [RCV001816094]	uncertain significance	10	122514339	122514339	Human	1	name
151770500	CV1339997	single nucleotide variant	NM_002775.5(HTRA1):c.1201C>T (p.Arg401Trp)	not provided [RCV001874401]	uncertain significance	10	122511992	122511992	Human		name
151772482	CV1357234	single nucleotide variant	NM_002775.5(HTRA1):c.1130T>A (p.Ile377Asn)	not provided [RCV001864208]	uncertain significance	10	122510105	122510105	Human		name
151790592	CV1373527	single nucleotide variant	NM_002775.5(HTRA1):c.1249G>A (p.Val417Ile)	not provided [RCV001898139]	uncertain significance	10	122512040	122512040	Human		name
151746999	CV1375141	single nucleotide variant	NM_002775.5(HTRA1):c.1172C>T (p.Thr391Met)	not provided [RCV001947710]	uncertain significance	10	122510147	122510147	Human		name
151826263	CV1467256	single nucleotide variant	NM_002775.5(HTRA1):c.1086G>T (p.Lys362Asn)	not provided [RCV001901360]	uncertain significance	10	122508736	122508736	Human		name
151846742	CV1501841	single nucleotide variant	NM_002775.5(HTRA1):c.1136A>G (p.Lys379Arg)	not provided [RCV002016017]	uncertain significance	10	122510111	122510111	Human		name
151734842	CV1502391	single nucleotide variant	NM_002775.5(HTRA1):c.1414A>T (p.Thr472Ser)	Inborn genetic diseases [RCV002553628]\|not provided [RCV001911270]	uncertain significance	10	122514330	122514330	Human	1	name
9589596	CV165897	single nucleotide variant	NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro)	CARASIL syndrome [RCV000144149]	pathogenic\|not provided	10	122508741	122508741	Human	1	name
155641486	CV1706999	single nucleotide variant	NM_002775.5(HTRA1):c.1215C>G (p.Phe405Leu)	not provided [RCV002287929]	uncertain significance	10	122512006	122512006	Human		name
156411021	CV1892851	single nucleotide variant	NM_002775.5(HTRA1):c.1351G>A (p.Val451Ile)	not provided [RCV003072302]	uncertain significance	10	122514267	122514267	Human		name
156419013	CV1929202	single nucleotide variant	NM_002775.5(HTRA1):c.1387C>T (p.Arg463Cys)	not provided [RCV002612226]	uncertain significance	10	122514303	122514303	Human		name
156103180	CV1956673	single nucleotide variant	NM_002775.5(HTRA1):c.1388G>A (p.Arg463His)	not provided [RCV002570924]	uncertain significance	10	122514304	122514304	Human		name
156222719	CV1965552	single nucleotide variant	NM_002775.5(HTRA1):c.1208G>A (p.Arg403Gln)	not provided [RCV002596520]	uncertain significance	10	122511999	122511999	Human		name
155991174	CV1990505	single nucleotide variant	NM_002775.5(HTRA1):c.1420A>G (p.Ile474Val)	not provided [RCV002618028]	uncertain significance	10	122514336	122514336	Human		name
156108139	CV2072437	single nucleotide variant	NM_002775.5(HTRA1):c.1282C>G (p.Leu428Val)	not provided [RCV002870791]	uncertain significance	10	122514198	122514198	Human		name
155988820	CV2094400	single nucleotide variant	NM_002775.5(HTRA1):c.1379T>C (p.Met460Thr)	not provided [RCV002882292]	uncertain significance	10	122514295	122514295	Human		name
8597536	CV22526	single nucleotide variant	NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter)	CARASIL syndrome [RCV000007916]\|HTRA1-related cerebral small vessel disease [RCV000779017]\|not provided [RCV002512882]	pathogenic\|likely pathogenic	10	122508758	122508758	Human	1	name , trait
243060108	CV2407912	single nucleotide variant	NM_002775.5(HTRA1):c.1348G>C (p.Asp450His)	not provided [RCV003135693]	uncertain significance	10	122514264	122514264	Human		name
243060111	CV2407915	single nucleotide variant	NM_002775.5(HTRA1):c.1408A>G (p.Met470Val)	not provided [RCV003135696]	uncertain significance	10	122514324	122514324	Human		name
329848543	CV2523286	single nucleotide variant	NM_002775.5(HTRA1):c.1195A>C (p.Lys399Gln)	not provided [RCV003225300]	uncertain significance	10	122511986	122511986	Human		name
401905465	CV2831475	single nucleotide variant	NM_002775.5(HTRA1):c.1127C>T (p.Ala376Val)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV003444467]	uncertain significance	10	122510102	122510102	Human	1	name
405065424	CV2879113	single nucleotide variant	NM_002775.5(HTRA1):c.1207C>T (p.Arg403Trp)	not provided [RCV003548205]	likely benign	10	122511998	122511998	Human		name
405177309	CV3023768	single nucleotide variant	NM_002775.5(HTRA1):c.1174T>C (p.Ser392Pro)	not provided [RCV003705122]	uncertain significance	10	122510149	122510149	Human		name
404999015	CV3120130	single nucleotide variant	NM_002775.5(HTRA1):c.1210G>A (p.Asp404Asn)	not provided [RCV003827920]	uncertain significance	10	122512001	122512001	Human		name
11608189	CV314441	single nucleotide variant	NM_002775.5(HTRA1):c.1260T>A (p.Asp420Glu)	HTRA1-related disorder [RCV003417963]\|Macular degeneration [RCV000352185]	uncertain significance	10	122512051	122512051	Human	2	name , trait , alternate_id
405263637	CV3189826	single nucleotide variant	NM_002775.5(HTRA1):c.1144T>C (p.Tyr382His)	HTRA1-related disorder [RCV003896874]	uncertain significance	10	122510119	122510119	Human		name , trait , alternate_id
405285621	CV3209684	single nucleotide variant	NM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter)	CARASIL syndrome [RCV003989870]\|HTRA1-related cerebral small vessel disease [RCV004767511]\|HTRA1-related disorder [RCV003959258]	pathogenic\|likely pathogenic	10	122510131	122510131	Human	1	name , trait , alternate_id
405779845	CV3270711	single nucleotide variant	NM_002775.5(HTRA1):c.1222G>A (p.Val408Met)	Inborn genetic diseases [RCV004397440]	uncertain significance	10	122512013	122512013	Human	1	name
408390270	CV3525010	single nucleotide variant	NM_002775.5(HTRA1):c.1066C>T (p.Pro356Ser)	not provided [RCV004769905]	uncertain significance	10	122508716	122508716	Human		name
596920626	CV3534076	single nucleotide variant	NM_002775.5(HTRA1):c.1341T>G (p.Asp447Glu)	not specified [RCV004783294]	uncertain significance	10	122514257	122514257	Human		name
596932551	CV3539173	single nucleotide variant	NM_002775.5(HTRA1):c.1438C>T (p.Pro480Ser)	not provided [RCV004793299]	uncertain significance	10	122514354	122514354	Human		name
597698429	CV3686226	single nucleotide variant	NM_002775.5(HTRA1):c.1208G>C (p.Arg403Pro)	Inborn genetic diseases [RCV004987580]	uncertain significance	10	122511999	122511999	Human	1	name
597698446	CV3686229	single nucleotide variant	NM_002775.5(HTRA1):c.1423C>T (p.Pro475Ser)	Inborn genetic diseases [RCV004987583]	uncertain significance	10	122514339	122514339	Human	1	name
597698451	CV3686230	single nucleotide variant	NM_002775.5(HTRA1):c.1213T>G (p.Phe405Val)	Inborn genetic diseases [RCV004987584]	uncertain significance	10	122512004	122512004	Human	1	name
597886932	CV3787485	single nucleotide variant	NM_002775.5(HTRA1):c.1015G>A (p.Val339Met)	not provided [RCV005125051]	uncertain significance	10	122508665	122508665	Human		name
597839016	CV3824877	single nucleotide variant	NM_002775.5(HTRA1):c.1306A>G (p.Ser436Gly)	not provided [RCV005171741]	uncertain significance	10	122514222	122514222	Human		name
597897073	CV3834682	single nucleotide variant	NM_002775.5(HTRA1):c.1076A>G (p.Lys359Arg)	not provided [RCV005180593]	uncertain significance	10	122508726	122508726	Human		name
597875685	CV3859802	single nucleotide variant	NM_002775.5(HTRA1):c.1073A>G (p.Asp358Gly)	not provided [RCV005198209]	uncertain significance	10	122508723	122508723	Human		name
597875714	CV3859806	single nucleotide variant	NM_002775.5(HTRA1):c.1262C>T (p.Thr421Ile)	not provided [RCV005198213]	uncertain significance	10	122512053	122512053	Human		name
15175627	CV737385	single nucleotide variant	NM_002775.5(HTRA1):c.1094C>T (p.Thr365Met)	Macular degeneration [RCV001108056]\|not provided [RCV000906260]	likely benign	10	122508744	122508744	Human	2	name
21073535	CV793363	microsatellite	NM_002775.5(HTRA1):c.31CTG[7] (p.Leu16dup)	not provided [RCV000991733]\|not specified [RCV005408618]	uncertain significance	10	122461681	122461682	Human		name
28898061	CV865532	single nucleotide variant	NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr)	CARASIL syndrome [RCV001328991]\|HTRA1-related disorder [RCV003393841]\|Inborn genetic diseases [RCV002555000]\|Macular degeneration [RCV001102841]\|not provided [RCV001726430]	uncertain significance	10	122514249	122514249	Human	4	name , trait , alternate_id
150460818	CV1234693	insertion	NM_002775.5(HTRA1):c.1179-205_1179-204insTA	not provided [RCV001649275]	benign	10	122511764	122511765	Human		name
155794389	CV1858659	deletion	NM_002775.5(HTRA1):c.175_178del (p.Arg59fs)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002463470]	pathogenic	10	122461827	122461830	Human	1	name
156228689	CV2019569	deletion	NM_002775.5(HTRA1):c.184_185del (p.Cys62fs)	HTRA1-related autosomal dominant cerebral small vessel disease [RCV003324043]\|not provided [RCV002701276]	pathogenic	10	122461835	122461836	Human	1	name , trait
598226021	CV3895719	insertion	NM_002775.5(HTRA1):c.33_34insTC (p.Leu12fs)	CARASIL syndrome [RCV005362031]	uncertain significance	10	122461685	122461686	Human	2	name
151770920	CV1366296	microsatellite	NM_002775.5(HTRA1):c.530AGA[1] (p.Lys178del)	not provided [RCV001929512]	uncertain significance	10	122488959	122488961	Human		name
41406797	CV982736	deletion	NM_002775.5(HTRA1):c.529_531del (p.Glu177del)	not provided [RCV001288907]	uncertain significance	10	122488957	122488959	Human		name
126731430	CV1000688	deletion	NM_002775.5(HTRA1):c.1394_1395del (p.Gly465fs)	not provided [RCV001310580]	uncertain significance	10	122514310	122514311	Human		name
151662085	CV1332868	indel	NM_002775.5(HTRA1):c.278_280delinsCC (p.Phe93fs)	not provided [RCV001837115]	likely pathogenic	10	122461930	122461932	Human		name
11635475	CV320958	insertion	NM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer)	Macular degeneration [RCV000354631]\|not provided [RCV001091417]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	122461685	122461686	Human	2	name
405134011	CV2959438	indel	NM_002775.5(HTRA1):c.34delinsTCCT (p.Leu11_Leu12insSer)	HTRA1-related disorder [RCV004750403]\|not provided [RCV003668633]	uncertain significance	10	122461686	122461686	Human		name , trait , alternate_id
402502500	CV2932397	duplication	NM_002775.5(HTRA1):c.842_847dup (p.Ile282_Gly283insAlaIle)	not provided [RCV003574068]	uncertain significance	10	122506751	122506752	Human		name

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