Rnaseh2b Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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507 records found for search term Rnaseh2b

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11614314	CV334980	single nucleotide variant	NM_024570.4(RNASEH2B):c.*63G>T	Aicardi-Goutieres syndrome 2 [RCV000275924]	uncertain significance	13	50956537	50956537	Human	1	name
28871484	CV871407	single nucleotide variant	NM_024570.4(RNASEH2B):c.*12T>C	Aicardi-Goutieres syndrome 2 [RCV001114101]	uncertain significance	13	50956486	50956486	Human	1	name
28871485	CV871408	single nucleotide variant	NM_024570.4(RNASEH2B):c.*29A>G	Aicardi-Goutieres syndrome 2 [RCV001114102]	uncertain significance	13	50956503	50956503	Human	1	name
28871487	CV871409	single nucleotide variant	NM_024570.4(RNASEH2B):c.*76T>A	Aicardi-Goutieres syndrome 2 [RCV001114103]	uncertain significance	13	50956550	50956550	Human	1	name
156128215	CV2158595	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+3A>G	Aicardi-Goutieres syndrome 2 [RCV003022071]	uncertain significance	13	50910143	50910143	Human	1	name
405036720	CV2993559	single nucleotide variant	NM_024570.4(RNASEH2B):c.65-1G>A	Aicardi-Goutieres syndrome 2 [RCV003602266]	likely pathogenic	13	50927406	50927406	Human	1	name
11606019	CV319929	single nucleotide variant	NM_024570.4(RNASEH2B):c.-210G>C	Aicardi-Goutieres syndrome 2 [RCV000326356]\|not provided [RCV001764280]	benign\|likely benign	13	50909867	50909867	Human	1	name
11662638	CV319933	single nucleotide variant	NM_024570.4(RNASEH2B):c.-181G>A	Aicardi-Goutieres syndrome 2 [RCV000388155]	uncertain significance	13	50909896	50909896	Human	1	name
11603024	CV319935	single nucleotide variant	NM_024570.4(RNASEH2B):c.-117C>G	Aicardi-Goutieres syndrome 2 [RCV000296199]	likely benign\|uncertain significance	13	50909960	50909960	Human	1	name
11607882	CV319936	single nucleotide variant	NM_024570.4(RNASEH2B):c.-112C>T	Aicardi-Goutieres syndrome 2 [RCV000348702]\|not provided [RCV002260634]	likely benign\|uncertain significance	13	50909965	50909965	Human	1	name
11662513	CV319937	single nucleotide variant	NM_024570.4(RNASEH2B):c.-107G>A	Aicardi-Goutieres syndrome 2 [RCV000386914]	uncertain significance	13	50909970	50909970	Human	1	name
11610718	CV319944	single nucleotide variant	NM_024570.4(RNASEH2B):c.*246A>G	Aicardi-Goutieres syndrome 2 [RCV000385294]	uncertain significance	13	50956720	50956720	Human	1	name
11647094	CV319948	single nucleotide variant	NM_024570.4(RNASEH2B):c.*249T>C	Aicardi-Goutieres syndrome 2 [RCV000274604]	uncertain significance	13	50956723	50956723	Human	1	name
11613542	CV328473	single nucleotide variant	NM_024570.4(RNASEH2B):c.-228C>A	Aicardi-Goutieres syndrome 2 [RCV000269000]	uncertain significance	13	50909849	50909849	Human	1	name
11656385	CV328483	single nucleotide variant	NM_024570.4(RNASEH2B):c.*159A>G	Aicardi-Goutieres syndrome 2 [RCV000333162]	uncertain significance	13	50956633	50956633	Human	1	name
598128073	CV3883091	single nucleotide variant	NM_024570.4(RNASEH2B):c.65-2A>G	Aicardi-Goutieres syndrome 2 [RCV005234624]	likely pathogenic	13	50927405	50927405	Human	1	name
15123605	CV695602	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+8C>T	Aicardi-Goutieres syndrome 2 [RCV000874622]\|not provided [RCV001703244]	likely benign	13	50910148	50910148	Human	1	name
28911092	CV871400	single nucleotide variant	NM_024570.4(RNASEH2B):c.-145G>A	Aicardi-Goutieres syndrome 2 [RCV001109975]	uncertain significance	13	50909932	50909932	Human	1	name
28911144	CV871410	single nucleotide variant	NM_024570.4(RNASEH2B):c.*174C>T	Aicardi-Goutieres syndrome 2 [RCV001110066]	uncertain significance	13	50956648	50956648	Human	1	name
126743452	CV1010907	single nucleotide variant	NM_024570.4(RNASEH2B):c.742-9A>G	Aicardi-Goutieres syndrome 2 [RCV001314800]	uncertain significance	13	50953896	50953896	Human	1	name
126729580	CV1021168	single nucleotide variant	NM_024570.4(RNASEH2B):c.436+1G>A	Aicardi-Goutieres syndrome 2 [RCV002046000]	pathogenic\|likely pathogenic	13	50935000	50935000	Human	1	name
127292543	CV1157165	duplication	NM_024570.4(RNASEH2B):c.322-4dup	Aicardi-Goutieres syndrome 2 [RCV001510879]	benign	13	50934875	50934876	Human	1	name
150487706	CV1237376	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+80C>T	not provided [RCV001654225]\|not specified [RCV003487602]	benign	13	50910220	50910220	Human		name
151804145	CV1362764	single nucleotide variant	NM_024570.4(RNASEH2B):c.699-9C>G	Aicardi-Goutieres syndrome 2 [RCV002028370]	uncertain significance	13	50949454	50949454	Human	1	name
151752293	CV1370541	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+6G>T	Aicardi-Goutieres syndrome 2 [RCV001894456]\|not provided [RCV003394297]	uncertain significance	13	50943400	50943400	Human	1	name
151858739	CV1377673	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+17G>A	Aicardi-Goutieres syndrome 2 [RCV001938273]	likely benign\|uncertain significance	13	50910157	50910157	Human	1	name
151785010	CV1397056	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+3A>G	Aicardi-Goutieres syndrome 2 [RCV001930806]	uncertain significance	13	50943397	50943397	Human	1	name
151823160	CV1456534	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-5T>G	Aicardi-Goutieres syndrome 2 [RCV002030084]	likely benign\|uncertain significance	13	50934880	50934880	Human	1	name
151741219	CV1494778	single nucleotide variant	NM_024570.4(RNASEH2B):c.511-4A>G	Aicardi-Goutieres syndrome 2 [RCV001968163]	likely benign\|uncertain significance	13	50945423	50945423	Human	1	name
152124775	CV1532222	single nucleotide variant	NM_024570.4(RNASEH2B):c.65-14C>T	Aicardi-Goutieres syndrome 2 [RCV002118306]	likely benign	13	50927393	50927393	Human	1	name
152157118	CV1573142	single nucleotide variant	NM_024570.4(RNASEH2B):c.65-18T>A	Aicardi-Goutieres syndrome 2 [RCV002180266]	likely benign	13	50927389	50927389	Human	1	name
152115016	CV1600415	single nucleotide variant	NM_024570.4(RNASEH2B):c.65-11T>C	Aicardi-Goutieres syndrome 2 [RCV002097359]	likely benign	13	50927396	50927396	Human	1	name
152054614	CV1610017	single nucleotide variant	NM_024570.4(RNASEH2B):c.617-7C>G	Aicardi-Goutieres syndrome 2 [RCV002167277]	likely benign	13	50947980	50947980	Human	1	name
152033433	CV1610360	deletion	NM_024570.4(RNASEH2B):c.437-9del	Aicardi-Goutieres syndrome 2 [RCV002124932]	benign	13	50943305	50943305	Human	1	name
152085755	CV1617379	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+7T>G	Aicardi-Goutieres syndrome 2 [RCV002076960]	likely benign	13	50943401	50943401	Human	1	name
152100987	CV1648952	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+16C>T	Aicardi-Goutieres syndrome 2 [RCV002214003]	likely benign	13	50910156	50910156	Human	1	name
152090403	CV1654833	duplication	NM_024570.4(RNASEH2B):c.437-9dup	Aicardi-Goutieres syndrome 2 [RCV002212645]	benign	13	50943304	50943305	Human	1	name
152155076	CV1658058	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-4T>A	Aicardi-Goutieres syndrome 2 [RCV002180022]	likely benign	13	50934881	50934881	Human	1	name
152151438	CV1658806	single nucleotide variant	NM_024570.4(RNASEH2B):c.65-19A>G	Aicardi-Goutieres syndrome 2 [RCV002139576]	likely benign	13	50927388	50927388	Human	1	name
152060761	CV1659740	single nucleotide variant	NM_024570.4(RNASEH2B):c.511-5C>A	Aicardi-Goutieres syndrome 2 [RCV002073647]	likely benign	13	50945422	50945422	Human	1	name
156383986	CV1961079	single nucleotide variant	NM_024570.4(RNASEH2B):c.437-9T>C	Aicardi-Goutieres syndrome 2 [RCV002583360]	likely benign	13	50943312	50943312	Human	1	name
156412264	CV1966943	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-9T>G	Aicardi-Goutieres syndrome 2 [RCV002608491]	likely benign	13	50934876	50934876	Human	1	name
156400837	CV1982302	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-2A>T	Aicardi-Goutieres syndrome 2 [RCV002635953]	likely pathogenic	13	50934883	50934883	Human	1	name
156016033	CV2046701	single nucleotide variant	NM_024570.4(RNASEH2B):c.436+6G>C	Aicardi-Goutieres syndrome 2 [RCV002756941]	uncertain significance	13	50935005	50935005	Human	1	name
156102972	CV2051200	single nucleotide variant	NM_024570.4(RNASEH2B):c.617-6T>A	Aicardi-Goutieres syndrome 2 [RCV002824626]	likely benign	13	50947981	50947981	Human	1	name
156007105	CV2054383	single nucleotide variant	NM_024570.4(RNASEH2B):c.698+1G>C	Aicardi-Goutieres syndrome 2 [RCV002819933]	likely pathogenic	13	50948069	50948069	Human	1	name
156181303	CV2068478	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+11G>A	Aicardi-Goutieres syndrome 2 [RCV002851843]	likely benign	13	50910151	50910151	Human	1	name
156098337	CV2087867	single nucleotide variant	NM_024570.4(RNASEH2B):c.741+6A>G	Aicardi-Goutieres syndrome 2 [RCV002847985]	uncertain significance	13	50949511	50949511	Human	1	name
156262293	CV2100702	single nucleotide variant	NM_024570.4(RNASEH2B):c.741+8G>T	Aicardi-Goutieres syndrome 2 [RCV002877315]	likely benign	13	50949513	50949513	Human	1	name
156293320	CV2111521	single nucleotide variant	NM_024570.4(RNASEH2B):c.245-5T>C	Aicardi-Goutieres syndrome 2 [RCV002922244]	likely benign	13	50930678	50930678	Human	1	name
156032601	CV2117714	duplication	NM_024570.4(RNASEH2B):c.616+2dup	Aicardi-Goutieres syndrome 2 [RCV002923580]	uncertain significance	13	50945533	50945534	Human	1	name
156239623	CV2152288	single nucleotide variant	NM_024570.4(RNASEH2B):c.244+6T>C	Aicardi-Goutieres syndrome 2 [RCV003008051]	uncertain significance	13	50929588	50929588	Human	1	name
156362344	CV2180528	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+9G>A	Aicardi-Goutieres syndrome 2 [RCV003049113]	likely benign	13	50953994	50953994	Human	1	name
156138799	CV2186740	single nucleotide variant	NM_024570.4(RNASEH2B):c.137-4A>C	Aicardi-Goutieres syndrome 2 [RCV003056102]	uncertain significance	13	50929471	50929471	Human	1	name
156347557	CV2191343	single nucleotide variant	NM_024570.4(RNASEH2B):c.511-9G>A	Aicardi-Goutieres syndrome 2 [RCV003048093]	likely benign	13	50945418	50945418	Human	1	name
402502153	CV2852936	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-3C>G	Aicardi-Goutieres syndrome 2 [RCV003495346]\|not provided [RCV003494130]	likely pathogenic	13	50934882	50934882	Human	1	name
405103282	CV2887433	single nucleotide variant	NM_024570.4(RNASEH2B):c.436+8A>G	Aicardi-Goutieres syndrome 2 [RCV003497305]	likely benign	13	50935007	50935007	Human	1	name
402510292	CV2904464	single nucleotide variant	NM_024570.4(RNASEH2B):c.699-6T>C	Aicardi-Goutieres syndrome 2 [RCV003495566]	likely benign	13	50949457	50949457	Human	1	name
402506469	CV2907294	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+13G>T	Aicardi-Goutieres syndrome 2 [RCV003495026]	likely benign	13	50910153	50910153	Human	1	name
402510537	CV2912381	single nucleotide variant	NM_024570.4(RNASEH2B):c.823-5A>G	Aicardi-Goutieres syndrome 2 [RCV003495590]	likely benign	13	50956353	50956353	Human	1	name
402511289	CV2919061	single nucleotide variant	NM_024570.4(RNASEH2B):c.617-2A>G	Aicardi-Goutieres syndrome 2 [RCV003495657]	likely pathogenic	13	50947985	50947985	Human	1	name
402512458	CV2920125	deletion	NM_024570.4(RNASEH2B):c.823-6del	Aicardi-Goutieres syndrome 2 [RCV003495776]	likely benign	13	50956351	50956351	Human	1	name
402525292	CV2924462	single nucleotide variant	NM_024570.4(RNASEH2B):c.245-2A>C	Aicardi-Goutieres syndrome 2 [RCV003496806]	likely pathogenic	13	50930681	50930681	Human	1	name
402522693	CV2931517	single nucleotide variant	NM_024570.4(RNASEH2B):c.437-5T>C	Aicardi-Goutieres syndrome 2 [RCV003496586]	likely benign	13	50943316	50943316	Human	1	name
402525325	CV2933683	single nucleotide variant	NM_024570.4(RNASEH2B):c.245-7T>C	Aicardi-Goutieres syndrome 2 [RCV003496809]	likely benign	13	50930676	50930676	Human	1	name
405019492	CV2960457	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+8G>A	Aicardi-Goutieres syndrome 2 [RCV003600730]	likely benign	13	50953993	50953993	Human	1	name
405026371	CV2963232	single nucleotide variant	NM_024570.4(RNASEH2B):c.137-8C>T	Aicardi-Goutieres syndrome 2 [RCV003601393]	likely benign	13	50929467	50929467	Human	1	name
405026547	CV2967094	single nucleotide variant	NM_024570.4(RNASEH2B):c.741+8G>A	Aicardi-Goutieres syndrome 2 [RCV003601408]	likely benign	13	50949513	50949513	Human	1	name
405027748	CV2968153	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-5T>C	Aicardi-Goutieres syndrome 2 [RCV003601498]	likely benign	13	50934880	50934880	Human	1	name
405028981	CV2969945	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+16C>G	Aicardi-Goutieres syndrome 2 [RCV003601598]	likely benign	13	50910156	50910156	Human	1	name
405030706	CV2984226	single nucleotide variant	NM_024570.4(RNASEH2B):c.511-4A>T	Aicardi-Goutieres syndrome 2 [RCV003601619]	likely benign	13	50945423	50945423	Human	1	name
405029887	CV2988077	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+11G>T	Aicardi-Goutieres syndrome 2 [RCV003601675]	likely benign	13	50910151	50910151	Human	1	name
405034723	CV2990966	single nucleotide variant	NM_024570.4(RNASEH2B):c.823-9C>A	Aicardi-Goutieres syndrome 2 [RCV003602083]	likely benign	13	50956349	50956349	Human	1	name
405035355	CV2991680	duplication	NM_024570.4(RNASEH2B):c.616+9dup	Aicardi-Goutieres syndrome 2 [RCV003602144]	likely benign	13	50945538	50945539	Human	1	name
405036456	CV3003341	single nucleotide variant	NM_024570.4(RNASEH2B):c.245-2A>G	Aicardi-Goutieres syndrome 2 [RCV003602244]	likely pathogenic	13	50930681	50930681	Human	1	name
405037560	CV3008581	deletion	NM_024570.4(RNASEH2B):c.322-4del	Aicardi-Goutieres syndrome 2 [RCV003602346]	benign	13	50934876	50934876	Human	1	name
405023599	CV3061230	single nucleotide variant	NM_024570.4(RNASEH2B):c.511-1G>A	Aicardi-Goutieres syndrome 2 [RCV003601145]	likely pathogenic	13	50945426	50945426	Human	1	name
405111933	CV3118546	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+14C>T	Aicardi-Goutieres syndrome 2 [RCV003813774]	likely benign	13	50910154	50910154	Human	1	name
402517836	CV3179056	single nucleotide variant	NM_024570.4(RNASEH2B):c.65-13G>C	Aicardi-Goutieres syndrome 2 [RCV003879489]	likely benign	13	50927394	50927394	Human	1	name
11622793	CV334977	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+6T>C	Aicardi-Goutieres syndrome 2 [RCV000548952]\|not provided [RCV001731592]\|not specified [RCV000517745]	benign\|likely benign	13	50953991	50953991	Human	1	name
12742849	CV360148	single nucleotide variant	NM_024570.4(RNASEH2B):c.245-8A>G	Aicardi-Goutieres syndrome 2 [RCV001865284]\|not provided [RCV000414685]	likely pathogenic\|uncertain significance	13	50930675	50930675	Human	1	name
597686219	CV3714397	single nucleotide variant	NM_024570.4(RNASEH2B):c.244+1G>A	Aicardi-Goutieres syndrome 2 [RCV005006910]	likely pathogenic	13	50929583	50929583	Human	1	name
597686225	CV3714398	single nucleotide variant	NM_024570.4(RNASEH2B):c.244+2T>C	Aicardi-Goutieres syndrome 2 [RCV005006911]	likely pathogenic	13	50929584	50929584	Human	1	name
597941967	CV3785917	single nucleotide variant	NM_024570.4(RNASEH2B):c.823-8A>T	Aicardi-Goutieres syndrome 2 [RCV005133810]	likely benign	13	50956350	50956350	Human	1	name
12854353	CV384517	single nucleotide variant	NM_024570.4(RNASEH2B):c.136+8C>T	Aicardi-Goutieres syndrome 2 [RCV001474591]\|Global developmental delay [RCV000449576]	likely benign\|uncertain significance	13	50927486	50927486	Human	3	name
597875030	CV3846427	single nucleotide variant	NM_024570.4(RNASEH2B):c.699-4T>G	Aicardi-Goutieres syndrome 2 [RCV005177310]	likely benign	13	50949459	50949459	Human	1	name
12894135	CV409033	single nucleotide variant	NM_024570.4(RNASEH2B):c.437-1G>A	Aicardi-Goutieres syndrome 2 [RCV003600381]\|not provided [RCV000481648]	pathogenic\|likely pathogenic	13	50943320	50943320	Human	1	name
12895547	CV409034	single nucleotide variant	NM_024570.4(RNASEH2B):c.698+5G>A	not provided [RCV000486862]	likely pathogenic	13	50948073	50948073	Human		name
13469966	CV441638	single nucleotide variant	NM_024570.4(RNASEH2B):c.698+1G>A	Aicardi Goutieres syndrome [RCV001192743]\|Aicardi-Goutieres syndrome 2 [RCV001857924]\|not provided [RCV000516648]	likely pathogenic	13	50948069	50948069	Human	2	name
13805894	CV567722	deletion	NM_024570.4(RNASEH2B):c.136+1del	Aicardi Goutieres syndrome [RCV004800537]\|Aicardi-Goutieres syndrome 2 [RCV000685946]\|RNASEH2B-related disorder [RCV003918124]\|not provided [RCV001567575]	pathogenic\|likely pathogenic	13	50927478	50927478	Human	2	name , trait , alternate_id
14714455	CV652296	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+5G>A	Aicardi-Goutieres syndrome 2 [RCV000794427]\|not specified [RCV005240579]	uncertain significance	13	50953990	50953990	Human	1	name
14708266	CV652406	deletion	NM_024570.4(RNASEH2B):c.510+1del	Aicardi-Goutieres syndrome 2 [RCV000820778]	likely pathogenic	13	50943394	50943394	Human	1	name
14741124	CV652842	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+1G>A	Aicardi-Goutieres syndrome 2 [RCV000805649]\|not provided [RCV004761794]	pathogenic	13	50943395	50943395	Human	1	name
15115985	CV776037	single nucleotide variant	NM_024570.4(RNASEH2B):c.244+7G>A	Aicardi-Goutieres syndrome 2 [RCV003495218]	likely benign	13	50929589	50929589	Human	1	name
38466962	CV940292	single nucleotide variant	NM_024570.4(RNASEH2B):c.244+3A>G	Aicardi-Goutieres syndrome 2 [RCV001201936]\|not specified [RCV004699191]	uncertain significance	13	50929585	50929585	Human	1	name
41408237	CV980801	single nucleotide variant	NM_024570.4(RNASEH2B):c.65-13G>A	Aicardi-Goutieres syndrome 2 [RCV003495241]\|not provided [RCV001281634]	likely pathogenic	13	50927394	50927394	Human	1	name
126745895	CV995639	deletion	NM_024570.4(RNASEH2B):c.616+5del	Aicardi-Goutieres syndrome 2 [RCV001306035]\|not specified [RCV004770024]	uncertain significance	13	50945537	50945537	Human	1	name
127300778	CV1123387	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-19C>A	Aicardi-Goutieres syndrome 2 [RCV001461172]	likely benign	13	50934866	50934866	Human	1	name
150467463	CV1220020	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+69G>A	not provided [RCV001614511]\|not specified [RCV003399422]	benign	13	50943463	50943463	Human		name
150480125	CV1221908	single nucleotide variant	NM_024570.4(RNASEH2B):c.64+169C>T	not provided [RCV001616704]	benign	13	50910309	50910309	Human		name
150456894	CV1248715	single nucleotide variant	NM_024570.4(RNASEH2B):c.823-80A>T	not provided [RCV001668891]\|not specified [RCV003401577]	benign	13	50956278	50956278	Human		name
150521222	CV1290976	single nucleotide variant	NM_024570.4(RNASEH2B):c.245-35C>T	not provided [RCV001732589]	likely benign	13	50930648	50930648	Human		name
150539204	CV1305138	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-54T>G	not provided [RCV001765918]	likely benign	13	50934831	50934831	Human		name
152141558	CV1520723	single nucleotide variant	NM_024570.4(RNASEH2B):c.136+15C>A	Aicardi-Goutieres syndrome 2 [RCV002178124]	likely benign	13	50927493	50927493	Human	1	name
152039215	CV1538343	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-18A>T	Aicardi-Goutieres syndrome 2 [RCV002206085]	likely benign	13	50934867	50934867	Human	1	name
152139213	CV1549658	single nucleotide variant	NM_024570.4(RNASEH2B):c.137-19G>C	Aicardi-Goutieres syndrome 2 [RCV002156543]	benign	13	50929456	50929456	Human	1	name
152036363	CV1553244	single nucleotide variant	NM_024570.4(RNASEH2B):c.699-20G>A	Aicardi-Goutieres syndrome 2 [RCV002187566]	likely benign	13	50949443	50949443	Human	1	name
152156138	CV1561117	single nucleotide variant	NM_024570.4(RNASEH2B):c.436+10A>C	Aicardi-Goutieres syndrome 2 [RCV002102976]	likely benign	13	50935009	50935009	Human	1	name
152054900	CV1564433	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+16G>A	Aicardi-Goutieres syndrome 2 [RCV002146110]	likely benign	13	50930775	50930775	Human	1	name
152052648	CV1581123	single nucleotide variant	NM_024570.4(RNASEH2B):c.823-17C>T	Aicardi-Goutieres syndrome 2 [RCV002089351]	likely benign	13	50956341	50956341	Human	1	name
152135759	CV1587691	single nucleotide variant	NM_024570.4(RNASEH2B):c.245-20A>T	Aicardi-Goutieres syndrome 2 [RCV002083479]	likely benign	13	50930663	50930663	Human	1	name
152176372	CV1593979	single nucleotide variant	NM_024570.4(RNASEH2B):c.742-12C>T	Aicardi-Goutieres syndrome 2 [RCV002164517]	likely benign	13	50953893	50953893	Human	1	name
152161793	CV1606217	single nucleotide variant	NM_024570.4(RNASEH2B):c.245-12T>G	Aicardi-Goutieres syndrome 2 [RCV002181061]	likely benign	13	50930671	50930671	Human	1	name
152079459	CV1620562	single nucleotide variant	NM_024570.4(RNASEH2B):c.742-20T>C	Aicardi-Goutieres syndrome 2 [RCV002112552]	likely benign	13	50953885	50953885	Human	1	name
152071392	CV1638748	single nucleotide variant	NM_024570.4(RNASEH2B):c.742-15G>T	Aicardi-Goutieres syndrome 2 [RCV002075150]	likely benign	13	50953890	50953890	Human	1	name
152088902	CV1638986	single nucleotide variant	NM_024570.4(RNASEH2B):c.617-11G>A	Aicardi-Goutieres syndrome 2 [RCV002150329]	likely benign	13	50947976	50947976	Human	1	name
152122958	CV1641033	single nucleotide variant	NM_024570.4(RNASEH2B):c.137-15G>T	Aicardi-Goutieres syndrome 2 [RCV002098414]	likely benign	13	50929460	50929460	Human	1	name
152172967	CV1641795	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+15C>T	Aicardi-Goutieres syndrome 2 [RCV002184020]	likely benign	13	50930774	50930774	Human	1	name
152028666	CV1642886	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+13C>T	Aicardi-Goutieres syndrome 2 [RCV002185912]	likely benign	13	50930772	50930772	Human	1	name
152116546	CV1643236	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+18T>C	Aicardi-Goutieres syndrome 2 [RCV002216210]	likely benign	13	50943412	50943412	Human	1	name
152039203	CV1643884	single nucleotide variant	NM_024570.4(RNASEH2B):c.616+16T>C	Aicardi-Goutieres syndrome 2 [RCV002125829]	likely benign	13	50945548	50945548	Human	1	name
152116748	CV1645787	deletion	NM_024570.4(RNASEH2B):c.137-11del	Aicardi-Goutieres syndrome 2 [RCV002175033]	likely benign	13	50929462	50929462	Human	1	name
152134311	CV1645929	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+16T>C	Aicardi-Goutieres syndrome 2 [RCV002177220]	benign	13	50954001	50954001	Human	1	name
156173881	CV1867200	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-17A>G	Aicardi-Goutieres syndrome 2 [RCV002508753]	uncertain significance	13	50934868	50934868	Human	1	name
156447280	CV1944924	single nucleotide variant	NM_024570.4(RNASEH2B):c.137-13T>G	Aicardi-Goutieres syndrome 2 [RCV003118807]	uncertain significance	13	50929462	50929462	Human	1	name
156106506	CV1992298	single nucleotide variant	NM_024570.4(RNASEH2B):c.742-13T>C	Aicardi-Goutieres syndrome 2 [RCV002622406]	likely benign	13	50953892	50953892	Human	1	name
156118242	CV2017296	single nucleotide variant	NM_024570.4(RNASEH2B):c.698+13T>A	Aicardi-Goutieres syndrome 2 [RCV002740098]	likely benign	13	50948081	50948081	Human	1	name
155979630	CV2028802	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+14G>A	Aicardi-Goutieres syndrome 2 [RCV002755266]	likely benign	13	50953999	50953999	Human	1	name
155946862	CV2035941	single nucleotide variant	NM_024570.4(RNASEH2B):c.741+20A>G	Aicardi-Goutieres syndrome 2 [RCV002775535]	likely benign	13	50949525	50949525	Human	1	name
155974990	CV2062701	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-15T>C	Aicardi-Goutieres syndrome 2 [RCV002842246]	likely benign	13	50934870	50934870	Human	1	name
156048987	CV2093424	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+19G>A	Aicardi-Goutieres syndrome 2 [RCV002867721]	likely benign	13	50943413	50943413	Human	1	name
156157150	CV2096695	single nucleotide variant	NM_024570.4(RNASEH2B):c.699-10A>T	Aicardi-Goutieres syndrome 2 [RCV002872523]	likely benign	13	50949453	50949453	Human	1	name
156209497	CV2117659	single nucleotide variant	NM_024570.4(RNASEH2B):c.616+12A>G	Aicardi-Goutieres syndrome 2 [RCV002957683]	likely benign	13	50945544	50945544	Human	1	name
155935752	CV2125668	duplication	NM_024570.4(RNASEH2B):c.322-15dup	Aicardi-Goutieres syndrome 2 [RCV002970930]	likely benign	13	50934869	50934870	Human	1	name
156033426	CV2126876	single nucleotide variant	NM_024570.4(RNASEH2B):c.617-19C>T	Aicardi-Goutieres syndrome 2 [RCV002949328]	likely benign	13	50947968	50947968	Human	1	name
155943421	CV2130042	single nucleotide variant	NM_024570.4(RNASEH2B):c.437-18T>A	Aicardi-Goutieres syndrome 2 [RCV002971439]	likely benign	13	50943303	50943303	Human	1	name
155964143	CV2140992	single nucleotide variant	NM_024570.4(RNASEH2B):c.823-18T>G	Aicardi-Goutieres syndrome 2 [RCV003015613]	likely benign	13	50956340	50956340	Human	1	name
156235597	CV2173335	single nucleotide variant	NM_024570.4(RNASEH2B):c.616+10G>T	Aicardi-Goutieres syndrome 2 [RCV003059471]	likely benign	13	50945542	50945542	Human	1	name
156335371	CV2178069	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+12C>T	Aicardi-Goutieres syndrome 2 [RCV003047446]	likely benign	13	50943406	50943406	Human	1	name
402509004	CV2854034	single nucleotide variant	NM_024570.4(RNASEH2B):c.823-13T>A	Aicardi-Goutieres syndrome 2 [RCV003495440]	likely benign	13	50956345	50956345	Human	1	name
402519040	CV2866873	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+20C>T	Aicardi-Goutieres syndrome 2 [RCV003496291]	likely benign	13	50930779	50930779	Human	1	name
402519094	CV2866998	single nucleotide variant	NM_024570.4(RNASEH2B):c.511-16C>T	Aicardi-Goutieres syndrome 2 [RCV003496295]	likely benign	13	50945411	50945411	Human	1	name
405102135	CV2880530	single nucleotide variant	NM_024570.4(RNASEH2B):c.698+14A>G	Aicardi-Goutieres syndrome 2 [RCV003496867]	likely benign	13	50948082	50948082	Human	1	name
405102773	CV2881518	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+10C>T	Aicardi-Goutieres syndrome 2 [RCV003497022]	likely benign	13	50930769	50930769	Human	1	name
402506290	CV2901196	single nucleotide variant	NM_024570.4(RNASEH2B):c.136+10C>G	Aicardi-Goutieres syndrome 2 [RCV003495007]	likely benign	13	50927488	50927488	Human	1	name
402504344	CV2902330	single nucleotide variant	NM_024570.4(RNASEH2B):c.137-10G>A	Aicardi-Goutieres syndrome 2 [RCV003494832]	likely benign	13	50929465	50929465	Human	1	name
402512778	CV2913952	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-10G>A	Aicardi-Goutieres syndrome 2 [RCV003495801]	likely benign	13	50934875	50934875	Human	1	name
402514650	CV2924639	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+12C>G	Aicardi-Goutieres syndrome 2 [RCV003495940]	likely benign	13	50943406	50943406	Human	1	name
402515022	CV2925174	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+18T>C	Aicardi-Goutieres syndrome 2 [RCV003495996]	likely benign	13	50954003	50954003	Human	1	name
405017794	CV2947827	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+12G>T	Aicardi-Goutieres syndrome 2 [RCV003600566]	likely benign	13	50930771	50930771	Human	1	name
405018604	CV2948937	single nucleotide variant	NM_024570.4(RNASEH2B):c.245-12T>C	Aicardi-Goutieres syndrome 2 [RCV003600645]	likely benign	13	50930671	50930671	Human	1	name
405028399	CV2965714	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+17G>A	Aicardi-Goutieres syndrome 2 [RCV003601551]	likely benign	13	50943411	50943411	Human	1	name
405026536	CV2967075	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+15G>A	Aicardi-Goutieres syndrome 2 [RCV003601407]	likely benign	13	50954000	50954000	Human	1	name
405026874	CV2970846	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+11A>G	Aicardi-Goutieres syndrome 2 [RCV003601432]	likely benign	13	50930770	50930770	Human	1	name
405030381	CV2978561	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-14A>G	Aicardi-Goutieres syndrome 2 [RCV003601716]	likely benign	13	50934871	50934871	Human	1	name
405031222	CV2989866	single nucleotide variant	NM_024570.4(RNASEH2B):c.511-19C>A	Aicardi-Goutieres syndrome 2 [RCV003601785]	likely benign	13	50945408	50945408	Human	1	name
405034713	CV2990965	single nucleotide variant	NM_024570.4(RNASEH2B):c.823-13T>C	Aicardi-Goutieres syndrome 2 [RCV003602082]	likely benign	13	50956345	50956345	Human	1	name
405036765	CV2995417	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+15C>G	Aicardi-Goutieres syndrome 2 [RCV003602140]	likely benign	13	50930774	50930774	Human	1	name
405035773	CV2999356	single nucleotide variant	NM_024570.4(RNASEH2B):c.742-19C>T	Aicardi-Goutieres syndrome 2 [RCV003602184]	likely benign	13	50953886	50953886	Human	1	name
405037051	CV3004113	single nucleotide variant	NM_024570.4(RNASEH2B):c.616+10G>A	Aicardi-Goutieres syndrome 2 [RCV003602297]	likely benign	13	50945542	50945542	Human	1	name
405037753	CV3008724	single nucleotide variant	NM_024570.4(RNASEH2B):c.698+16C>A	Aicardi-Goutieres syndrome 2 [RCV003602366]	likely benign	13	50948084	50948084	Human	1	name
405039082	CV3016331	single nucleotide variant	NM_024570.4(RNASEH2B):c.244+12G>A	Aicardi-Goutieres syndrome 2 [RCV003602461]	likely benign	13	50929594	50929594	Human	1	name
405012523	CV3018492	single nucleotide variant	NM_024570.4(RNASEH2B):c.617-11G>C	Aicardi-Goutieres syndrome 2 [RCV003599933]	likely benign	13	50947976	50947976	Human	1	name
405012007	CV3018680	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+16G>C	Aicardi-Goutieres syndrome 2 [RCV003599941]	likely benign	13	50930775	50930775	Human	1	name
405014139	CV3035099	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+15G>T	Aicardi-Goutieres syndrome 2 [RCV003600153]	likely benign	13	50954000	50954000	Human	1	name
405021327	CV3048301	single nucleotide variant	NM_024570.4(RNASEH2B):c.617-14T>C	Aicardi-Goutieres syndrome 2 [RCV003600928]	likely benign	13	50947973	50947973	Human	1	name
405022186	CV3048952	single nucleotide variant	NM_024570.4(RNASEH2B):c.437-20A>G	Aicardi-Goutieres syndrome 2 [RCV003600985]	likely benign	13	50943301	50943301	Human	1	name
405024151	CV3058718	single nucleotide variant	NM_024570.4(RNASEH2B):c.741+11G>A	Aicardi-Goutieres syndrome 2 [RCV003601196]	likely benign	13	50949516	50949516	Human	1	name
405025459	CV3070253	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+18A>C	Aicardi-Goutieres syndrome 2 [RCV003601313]	likely benign	13	50930777	50930777	Human	1	name
405148804	CV3141980	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+10C>T	Aicardi-Goutieres syndrome 2 [RCV003839902]	likely benign	13	50943404	50943404	Human	1	name
405178507	CV3147282	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+18A>T	Aicardi-Goutieres syndrome 2 [RCV003842184]	likely benign	13	50930777	50930777	Human	1	name
405223295	CV3151135	deletion	NM_024570.4(RNASEH2B):c.617-12del	Aicardi-Goutieres syndrome 2 [RCV003847560]	likely benign	13	50947975	50947975	Human	1	name
405238087	CV3165447	single nucleotide variant	NM_024570.4(RNASEH2B):c.510+13T>C	Aicardi-Goutieres syndrome 2 [RCV003866649]	likely benign	13	50943407	50943407	Human	1	name
402471299	CV3171533	single nucleotide variant	NM_024570.4(RNASEH2B):c.616+13T>C	Aicardi-Goutieres syndrome 2 [RCV003874317]	likely benign	13	50945545	50945545	Human	1	name
404993986	CV3176508	single nucleotide variant	NM_024570.4(RNASEH2B):c.823-19C>G	Aicardi-Goutieres syndrome 2 [RCV003881940]	likely benign	13	50956339	50956339	Human	1	name
404982171	CV3184165	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-18A>G	Aicardi-Goutieres syndrome 2 [RCV003880657]	likely benign	13	50934867	50934867	Human	1	name
404982250	CV3184176	single nucleotide variant	NM_024570.4(RNASEH2B):c.511-18C>A	Aicardi-Goutieres syndrome 2 [RCV003880668]	likely benign	13	50945409	50945409	Human	1	name
11652356	CV336831	single nucleotide variant	NM_024570.4(RNASEH2B):c.699-11A>G	Aicardi-Goutieres syndrome 2 [RCV000304608]	uncertain significance	13	50949452	50949452	Human	1	name
597910668	CV3749653	single nucleotide variant	NM_024570.4(RNASEH2B):c.436+17A>C	Aicardi-Goutieres syndrome 2 [RCV005073501]	likely benign	13	50935016	50935016	Human	1	name
597966838	CV3794335	single nucleotide variant	NM_024570.4(RNASEH2B):c.822+13A>G	Aicardi-Goutieres syndrome 2 [RCV005140511]	likely benign	13	50953998	50953998	Human	1	name
597965425	CV3823504	single nucleotide variant	NM_024570.4(RNASEH2B):c.136+16A>G	Aicardi-Goutieres syndrome 2 [RCV005164924]	likely benign	13	50927494	50927494	Human	1	name
597971688	CV3833146	single nucleotide variant	NM_024570.4(RNASEH2B):c.698+19C>T	Aicardi-Goutieres syndrome 2 [RCV005167043]	likely benign	13	50948087	50948087	Human	1	name
13480279	CV445155	single nucleotide variant	NM_024570.4(RNASEH2B):c.511-13G>A	not provided [RCV000521187]	likely pathogenic	13	50945414	50945414	Human		name
150465750	CV1218073	single nucleotide variant	NM_024570.4(RNASEH2B):c.321+113T>G	not provided [RCV001614199]\|not specified [RCV003487521]	benign	13	50930872	50930872	Human		name
150453687	CV1219869	single nucleotide variant	NM_024570.4(RNASEH2B):c.616+160G>A	not provided [RCV001612250]	benign	13	50945692	50945692	Human		name
150531878	CV1291457	single nucleotide variant	NM_024570.4(RNASEH2B):c.136+179A>C	not provided [RCV001733257]	likely benign	13	50927657	50927657	Human		name
150535171	CV1311798	single nucleotide variant	NM_024570.4(RNASEH2B):c.698+125A>G	not provided [RCV001779608]	likely benign	13	50948193	50948193	Human		name
150535896	CV1312089	single nucleotide variant	NM_024570.4(RNASEH2B):c.322-217T>C	not provided [RCV001779901]	likely benign	13	50934668	50934668	Human		name
151232497	CV1317746	single nucleotide variant	NM_001142279.2(RNASEH2B):c.*309G>A	not provided [RCV001787512]	likely benign	13	50970273	50970273	Human		name
11606099	CV319927	single nucleotide variant	NM_001142279.2(RNASEH2B):c.-399C>G	Aicardi-Goutieres syndrome 2 [RCV000327726]	uncertain significance	13	50909678	50909678	Human	1	name
11662263	CV334944	single nucleotide variant	NM_001142279.2(RNASEH2B):c.-313C>G	Aicardi Goutieres syndrome [RCV000384604]	uncertain significance	13	50909764	50909764	Human	1	name
28871310	CV871398	single nucleotide variant	NM_001142279.2(RNASEH2B):c.-294C>T	Aicardi-Goutieres syndrome 2 [RCV001114012]	uncertain significance	13	50909783	50909783	Human	1	name
28871314	CV871399	single nucleotide variant	NM_001142279.2(RNASEH2B):c.-293A>G	Aicardi-Goutieres syndrome 2 [RCV001114013]	uncertain significance	13	50909784	50909784	Human	1	name
404982289	CV2849070	single nucleotide variant	NM_024570.4(RNASEH2B):c.437-1152A>G	not specified [RCV003488942]	benign	13	50942169	50942169	Human		name
156011431	CV2051449	microsatellite	NM_024570.4(RNASEH2B):c.64+7_64+8del	Aicardi-Goutieres syndrome 2 [RCV002820141]	likely benign	13	50910145	50910146	Human		name
401724041	CV2737948	deletion	NM_024570.4(RNASEH2B):c.64+2_64+6del	Aicardi-Goutieres syndrome 2 [RCV003315120]	likely pathogenic	13	50910142	50910146	Human	1	name
596946409	CV3548228	deletion	NM_024570.4(RNASEH2B):c.431_436+1del	not provided [RCV004810053]	uncertain significance	13	50934991	50934997	Human		name
150535174	CV1311799	single nucleotide variant	NM_001142279.2(RNASEH2B):c.742-135G>A	not provided [RCV001779609]	likely benign	13	50969797	50969797	Human		name
151232387	CV1316841	single nucleotide variant	NM_001142279.2(RNASEH2B):c.742-177G>A	not provided [RCV001786661]	likely benign	13	50969755	50969755	Human		name
405102281	CV2884243	single nucleotide variant	NM_024570.4(RNASEH2B):c.9T>G (p.Ala3=)	Aicardi-Goutieres syndrome 2 [RCV003496918]	likely benign	13	50910085	50910085	Human	1	name
402512800	CV2913529	single nucleotide variant	NM_024570.4(RNASEH2B):c.6C>G (p.Ala2=)	Aicardi-Goutieres syndrome 2 [RCV003495742]	likely benign	13	50910082	50910082	Human	1	name
405198252	CV3168368	deletion	NM_024570.4(RNASEH2B):c.617-9_617-8del	Aicardi-Goutieres syndrome 2 [RCV003860500]	likely benign	13	50947977	50947978	Human	1	name
405270263	CV3187352	single nucleotide variant	NM_001142279.2(RNASEH2B):c.741+9997G>A	not provided [RCV003887436]	likely benign	13	50959502	50959502	Human		name
151754812	CV1425841	deletion	NM_024570.4(RNASEH2B):c.4del (p.Ala2fs)	Aicardi-Goutieres syndrome 2 [RCV002007221]	pathogenic	13	50910079	50910079	Human	1	name
152169969	CV1538797	deletion	NM_024570.4(RNASEH2B):c.322-10_322-9del	Aicardi-Goutieres syndrome 2 [RCV002182988]	likely benign	13	50934874	50934875	Human	1	name
152095776	CV1586707	single nucleotide variant	NM_024570.4(RNASEH2B):c.18C>T (p.Asp6=)	Aicardi-Goutieres syndrome 2 [RCV002078325]\|RNASEH2B-related disorder [RCV003403683]	likely benign\|uncertain significance	13	50910094	50910094	Human	1	name , trait , alternate_id
401902565	CV2813905	single nucleotide variant	NM_001142279.2(RNASEH2B):c.741+10009C>T	not provided [RCV003393319]	likely benign	13	50959514	50959514	Human		name
405028448	CV2965923	single nucleotide variant	NM_024570.4(RNASEH2B):c.15G>T (p.Val5=)	Aicardi-Goutieres syndrome 2 [RCV003601555]	likely benign	13	50910091	50910091	Human	1	name
405034885	CV2998395	single nucleotide variant	NM_024570.4(RNASEH2B):c.12C>G (p.Gly4=)	Aicardi-Goutieres syndrome 2 [RCV003602099]	likely benign	13	50910088	50910088	Human	1	name
405081515	CV3137446	single nucleotide variant	NM_024570.4(RNASEH2B):c.21C>T (p.Cys7=)	Aicardi-Goutieres syndrome 2 [RCV003834155]	likely benign	13	50910097	50910097	Human	1	name
407424692	CV3409730	single nucleotide variant	NM_001142279.2(RNASEH2B):c.741+10012G>A	not provided [RCV004585662]	likely benign	13	50959517	50959517	Human		name
127293934	CV1123386	single nucleotide variant	NM_024570.4(RNASEH2B):c.72A>G (p.Leu24=)	Aicardi-Goutieres syndrome 2 [RCV001459319]	likely benign	13	50927414	50927414	Human	1	name
151725433	CV1455681	single nucleotide variant	NM_024570.4(RNASEH2B):c.4G>C (p.Ala2Pro)	Aicardi-Goutieres syndrome 2 [RCV002020719]	uncertain significance	13	50910080	50910080	Human	1	name
152107787	CV1529900	single nucleotide variant	NM_024570.4(RNASEH2B):c.55C>T (p.Leu19=)	Aicardi-Goutieres syndrome 2 [RCV002196381]	likely benign	13	50910131	50910131	Human	1	name
152173417	CV1539439	single nucleotide variant	NM_024570.4(RNASEH2B):c.39C>T (p.Ala13=)	Aicardi-Goutieres syndrome 2 [RCV002162803]	likely benign	13	50910115	50910115	Human	1	name
152064920	CV1539658	deletion	NM_024570.4(RNASEH2B):c.823-16_823-15del	Aicardi-Goutieres syndrome 2 [RCV002147281]	likely benign	13	50956342	50956343	Human	1	name
152033536	CV1572877	deletion	NM_024570.4(RNASEH2B):c.245-20_245-19del	Aicardi-Goutieres syndrome 2 [RCV002187107]	likely benign	13	50930663	50930664	Human	1	name
152064146	CV1575315	microsatellite	NM_024570.4(RNASEH2B):c.617-17_617-15del	Aicardi-Goutieres syndrome 2 [RCV002110523]	likely benign	13	50947965	50947967	Human		name
152052193	CV1649883	single nucleotide variant	NM_024570.4(RNASEH2B):c.54C>T (p.Phe18=)	Aicardi-Goutieres syndrome 2 [RCV002167012]	likely benign	13	50910130	50910130	Human	1	name
152114142	CV1651081	single nucleotide variant	NM_024570.4(RNASEH2B):c.30G>A (p.Gly10=)	Aicardi-Goutieres syndrome 2 [RCV002153438]	likely benign	13	50910106	50910106	Human	1	name
156270308	CV2008249	duplication	NM_024570.4(RNASEH2B):c.321+16_321+17dup	Aicardi-Goutieres syndrome 2 [RCV002714959]	likely benign	13	50930774	50930775	Human	1	name
156379190	CV2028972	single nucleotide variant	NM_024570.4(RNASEH2B):c.96A>G (p.Lys32=)	Aicardi-Goutieres syndrome 2 [RCV002722177]	likely benign	13	50927438	50927438	Human	1	name
156323231	CV2067756	deletion	NM_024570.4(RNASEH2B):c.137-17_137-14del	Aicardi-Goutieres syndrome 2 [RCV002834844]	likely benign	13	50929455	50929458	Human	1	name
156027765	CV2131444	deletion	NM_024570.4(RNASEH2B):c.823-18_823-15del	Aicardi-Goutieres syndrome 2 [RCV002976468]	likely benign	13	50956340	50956343	Human	1	name
155945284	CV2139394	microsatellite	NM_024570.4(RNASEH2B):c.322-14_322-11del	Aicardi-Goutieres syndrome 2 [RCV002994306]	likely benign	13	50934867	50934870	Human		name
11634263	CV264582	single nucleotide variant	NM_024570.4(RNASEH2B):c.3G>A (p.Met1Ile)	not provided [RCV000405882]	pathogenic	13	50910079	50910079	Human		name
405023658	CV3061359	deletion	NM_024570.4(RNASEH2B):c.617-14_617-12del	Aicardi-Goutieres syndrome 2 [RCV003601150]	likely benign	13	50947971	50947973	Human	1	name
402496447	CV3179233	single nucleotide variant	NM_024570.4(RNASEH2B):c.78T>C (p.Asp26=)	Aicardi-Goutieres syndrome 2 [RCV003877500]	likely benign	13	50927420	50927420	Human	1	name
597937355	CV3774674	single nucleotide variant	NM_024570.4(RNASEH2B):c.36C>T (p.Gly12=)	Aicardi-Goutieres syndrome 2 [RCV005117707]	likely benign	13	50910112	50910112	Human	1	name
14735275	CV642018	single nucleotide variant	NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr)	Aicardi-Goutieres syndrome 2 [RCV000819510]	conflicting interpretations of pathogenicity\|uncertain significance	13	50910078	50910078	Human	1	name
126772724	CV1031411	single nucleotide variant	NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His)	Aicardi-Goutieres syndrome 2 [RCV001345781]	uncertain significance	13	50910101	50910101	Human	1	name
127257005	CV1101916	single nucleotide variant	NM_024570.4(RNASEH2B):c.153C>T (p.Tyr51=)	Aicardi-Goutieres syndrome 2 [RCV001426965]	likely benign	13	50929491	50929491	Human	1	name
127258560	CV1101917	single nucleotide variant	NM_024570.4(RNASEH2B):c.183T>C (p.Phe61=)	Aicardi-Goutieres syndrome 2 [RCV001427364]	likely benign	13	50929521	50929521	Human	1	name
151725995	CV1395271	single nucleotide variant	NM_024570.4(RNASEH2B):c.25G>A (p.Asp9Asn)	Aicardi-Goutieres syndrome 2 [RCV001966592]	uncertain significance	13	50910101	50910101	Human	1	name
151762585	CV1503069	deletion	NM_024570.4(RNASEH2B):c.63del (p.Glu22fs)	Aicardi-Goutieres syndrome 2 [RCV001914163]	pathogenic	13	50910139	50910139	Human	1	name
152097210	CV1558113	single nucleotide variant	NM_024570.4(RNASEH2B):c.129C>A (p.Pro43=)	Aicardi-Goutieres syndrome 2 [RCV002172622]	likely benign	13	50927471	50927471	Human	1	name
152088976	CV1563017	single nucleotide variant	NM_024570.4(RNASEH2B):c.180G>C (p.Leu60=)	Aicardi-Goutieres syndrome 2 [RCV002113806]	likely benign	13	50929518	50929518	Human	1	name
152110419	CV1586221	single nucleotide variant	NM_024570.4(RNASEH2B):c.177G>A (p.Gln59=)	Aicardi-Goutieres syndrome 2 [RCV002134408]	likely benign	13	50929515	50929515	Human	1	name
152086990	CV1608465	single nucleotide variant	NM_024570.4(RNASEH2B):c.102G>A (p.Gly34=)	Aicardi-Goutieres syndrome 2 [RCV002212179]	likely benign	13	50927444	50927444	Human	1	name
156244640	CV1991661	single nucleotide variant	NM_024570.4(RNASEH2B):c.150T>C (p.Ile50=)	Aicardi-Goutieres syndrome 2 [RCV002645694]	likely benign	13	50929488	50929488	Human	1	name
156011050	CV2011469	single nucleotide variant	NM_024570.4(RNASEH2B):c.126C>T (p.Asn42=)	Aicardi-Goutieres syndrome 2 [RCV002690515]	likely benign	13	50927468	50927468	Human	1	name
156129313	CV2084775	single nucleotide variant	NM_024570.4(RNASEH2B):c.132T>C (p.Cys44=)	Aicardi-Goutieres syndrome 2 [RCV002871573]	likely benign	13	50927474	50927474	Human	1	name
156129030	CV2100766	single nucleotide variant	NM_024570.4(RNASEH2B):c.234A>G (p.Ser78=)	Aicardi-Goutieres syndrome 2 [RCV002889870]	likely benign	13	50929572	50929572	Human	1	name
156318940	CV2165696	single nucleotide variant	NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr)	Aicardi-Goutieres syndrome 2 [RCV003029032]	uncertain significance	13	50910092	50910092	Human	1	name
156178242	CV2166479	single nucleotide variant	NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val)	Aicardi-Goutieres syndrome 2 [RCV003023744]	uncertain significance	13	50910102	50910102	Human	1	name
156336854	CV2168483	indel	NM_024570.4(RNASEH2B):c.742-1_742delinsAC	Aicardi-Goutieres syndrome 2 [RCV003030068]	likely pathogenic	13	50953904	50953905	Human		name
11548412	CV254859	single nucleotide variant	NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=)	Aicardi-Goutieres syndrome 2 [RCV000559795]\|not provided [RCV001618469]\|not specified [RCV000249052]	benign\|likely benign	13	50929494	50929494	Human	1	name
402509647	CV2854677	single nucleotide variant	NM_024570.4(RNASEH2B):c.288G>T (p.Leu96=)	Aicardi-Goutieres syndrome 2 [RCV003495504]	likely benign	13	50930726	50930726	Human	1	name
405020208	CV2961702	single nucleotide variant	NM_024570.4(RNASEH2B):c.207A>G (p.Lys69=)	Aicardi-Goutieres syndrome 2 [RCV003600805]	likely benign	13	50929545	50929545	Human	1	name
405029657	CV2964258	single nucleotide variant	NM_024570.4(RNASEH2B):c.294C>T (p.Leu98=)	Aicardi-Goutieres syndrome 2 [RCV003601479]	likely benign	13	50930732	50930732	Human	1	name
405027784	CV2964713	single nucleotide variant	NM_024570.4(RNASEH2B):c.178C>T (p.Leu60=)	Aicardi-Goutieres syndrome 2 [RCV003601501]	likely benign	13	50929516	50929516	Human	1	name
405030020	CV2981501	single nucleotide variant	NM_024570.4(RNASEH2B):c.294C>A (p.Leu98=)	Aicardi-Goutieres syndrome 2 [RCV003601686]	likely benign	13	50930732	50930732	Human	1	name
405030424	CV2988608	single nucleotide variant	NM_024570.4(RNASEH2B):c.192A>G (p.Lys64=)	Aicardi-Goutieres syndrome 2 [RCV003601720]	likely benign	13	50929530	50929530	Human	1	name
405036713	CV2993483	single nucleotide variant	NM_024570.4(RNASEH2B):c.282A>G (p.Leu94=)	Aicardi-Goutieres syndrome 2 [RCV003602265]	likely benign	13	50930720	50930720	Human	1	name
405038943	CV3006104	single nucleotide variant	NM_024570.4(RNASEH2B):c.171A>G (p.Leu57=)	Aicardi-Goutieres syndrome 2 [RCV003602448]	likely benign	13	50929509	50929509	Human	1	name
405038366	CV3015608	single nucleotide variant	NM_024570.4(RNASEH2B):c.222T>C (p.Phe74=)	Aicardi-Goutieres syndrome 2 [RCV003602396]	likely benign	13	50929560	50929560	Human	1	name
405015075	CV3036130	single nucleotide variant	NM_024570.4(RNASEH2B):c.231A>G (p.Gln77=)	Aicardi-Goutieres syndrome 2 [RCV003600222]	likely benign	13	50929569	50929569	Human	1	name
405021720	CV3045419	single nucleotide variant	NM_024570.4(RNASEH2B):c.234A>C (p.Ser78=)	Aicardi-Goutieres syndrome 2 [RCV003600966]	likely benign	13	50929572	50929572	Human	1	name
12838249	CV373859	single nucleotide variant	NM_024570.4(RNASEH2B):c.189A>G (p.Val63=)	Aicardi-Goutieres syndrome 2 [RCV000650224]\|not provided [RCV004708796]\|not specified [RCV000426622]	benign	13	50929527	50929527	Human	1	name
597873614	CV3849901	duplication	NM_024570.4(RNASEH2B):c.98dup (p.Asn33fs)	Aicardi-Goutieres syndrome 2 [RCV005197890]	pathogenic	13	50927435	50927436	Human	1	name
15109561	CV713954	single nucleotide variant	NM_024570.4(RNASEH2B):c.294C>G (p.Leu98=)	not provided [RCV000960724]	likely benign	13	50930732	50930732	Human		name
15124003	CV739065	single nucleotide variant	NM_024570.4(RNASEH2B):c.240A>G (p.Gln80=)	Aicardi-Goutieres syndrome 2 [RCV000896510]	likely benign	13	50929578	50929578	Human	1	name
28911093	CV871401	single nucleotide variant	NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr)	Aicardi-Goutieres syndrome 2 [RCV001109976]\|Inborn genetic diseases [RCV004960462]	uncertain significance	13	50910096	50910096	Human	2	name
126755670	CV1010905	single nucleotide variant	NM_024570.4(RNASEH2B):c.52T>A (p.Phe18Ile)	Aicardi-Goutieres syndrome 2 [RCV001327794]\|Inborn genetic diseases [RCV002546234]	uncertain significance	13	50910128	50910128	Human	2	name
127278543	CV1080123	single nucleotide variant	NM_024570.4(RNASEH2B):c.354G>A (p.Val118=)	Aicardi-Goutieres syndrome 2 [RCV001408522]	likely benign	13	50934917	50934917	Human	1	name
127240722	CV1101918	single nucleotide variant	NM_024570.4(RNASEH2B):c.933G>A (p.Lys311=)	Aicardi-Goutieres syndrome 2 [RCV001423403]	likely benign	13	50956468	50956468	Human	1	name
127335445	CV1123388	single nucleotide variant	NM_024570.4(RNASEH2B):c.492A>G (p.Leu164=)	Aicardi-Goutieres syndrome 2 [RCV001474303]	likely benign	13	50943376	50943376	Human	1	name
127319181	CV1123389	single nucleotide variant	NM_024570.4(RNASEH2B):c.501G>A (p.Leu167=)	Aicardi-Goutieres syndrome 2 [RCV001466472]	likely benign	13	50943385	50943385	Human	1	name
127333296	CV1144244	single nucleotide variant	NM_024570.4(RNASEH2B):c.639T>C (p.His213=)	Aicardi-Goutieres syndrome 2 [RCV001490083]	likely benign	13	50948009	50948009	Human	1	name
127331284	CV1144245	single nucleotide variant	NM_024570.4(RNASEH2B):c.831C>T (p.Ser277=)	Aicardi-Goutieres syndrome 2 [RCV001488700]	likely benign	13	50956366	50956366	Human	1	name
151827891	CV1356945	single nucleotide variant	NM_024570.4(RNASEH2B):c.29G>A (p.Gly10Glu)	Aicardi-Goutieres syndrome 2 [RCV001993417]\|Inborn genetic diseases [RCV002569275]	uncertain significance	13	50910105	50910105	Human	2	name
151870003	CV1375313	single nucleotide variant	NM_024570.4(RNASEH2B):c.46C>T (p.His16Tyr)	Aicardi-Goutieres syndrome 2 [RCV001960293]	uncertain significance	13	50910122	50910122	Human	1	name
151780188	CV1442749	single nucleotide variant	NM_024570.4(RNASEH2B):c.510G>A (p.Lys170=)	Aicardi-Goutieres syndrome 2 [RCV002009664]	uncertain significance	13	50943394	50943394	Human	1	name
151745316	CV1460911	single nucleotide variant	NM_024570.4(RNASEH2B):c.35G>A (p.Gly12Asp)	Aicardi-Goutieres syndrome 2 [RCV001871447]	uncertain significance	13	50910111	50910111	Human	1	name
151764139	CV1499480	duplication	NM_024570.4(RNASEH2B):c.129dup (p.Cys44fs)	Aicardi-Goutieres syndrome 2 [RCV001863437]	pathogenic	13	50927467	50927468	Human	1	name
152117324	CV1553673	single nucleotide variant	NM_024570.4(RNASEH2B):c.576T>G (p.Thr192=)	Aicardi-Goutieres syndrome 2 [RCV002081070]	likely benign	13	50945492	50945492	Human	1	name
152164100	CV1557482	single nucleotide variant	NM_024570.4(RNASEH2B):c.783T>C (p.Asp261=)	Aicardi-Goutieres syndrome 2 [RCV002141450]	likely benign	13	50953946	50953946	Human	1	name
152088953	CV1580542	single nucleotide variant	NM_024570.4(RNASEH2B):c.336C>G (p.Pro112=)	Aicardi-Goutieres syndrome 2 [RCV002093903]	likely benign	13	50934899	50934899	Human	1	name
152127959	CV1581258	single nucleotide variant	NM_024570.4(RNASEH2B):c.828T>C (p.Asn276=)	Aicardi-Goutieres syndrome 2 [RCV002099088]	likely benign	13	50956363	50956363	Human	1	name
152055952	CV1583918	single nucleotide variant	NM_024570.4(RNASEH2B):c.564G>C (p.Arg188=)	Aicardi-Goutieres syndrome 2 [RCV002208088]	likely benign	13	50945480	50945480	Human	1	name
152159446	CV1588073	single nucleotide variant	NM_024570.4(RNASEH2B):c.333G>A (p.Gln111=)	Aicardi-Goutieres syndrome 2 [RCV002180668]	likely benign	13	50934896	50934896	Human	1	name
152044670	CV1590578	single nucleotide variant	NM_024570.4(RNASEH2B):c.531A>G (p.Ala177=)	Aicardi-Goutieres syndrome 2 [RCV002108197]	likely benign	13	50945447	50945447	Human	1	name
152051777	CV1597052	single nucleotide variant	NM_024570.4(RNASEH2B):c.426A>G (p.Thr142=)	Aicardi-Goutieres syndrome 2 [RCV002166968]	likely benign	13	50934989	50934989	Human	1	name
152062097	CV1618700	single nucleotide variant	NM_024570.4(RNASEH2B):c.522T>C (p.Thr174=)	Aicardi-Goutieres syndrome 2 [RCV002090373]	likely benign	13	50945438	50945438	Human	1	name
152134941	CV1634355	single nucleotide variant	NM_024570.4(RNASEH2B):c.549G>A (p.Val183=)	Aicardi-Goutieres syndrome 2 [RCV002218586]	likely benign	13	50945465	50945465	Human	1	name
152039186	CV1643879	single nucleotide variant	NM_024570.4(RNASEH2B):c.387G>A (p.Leu129=)	Aicardi-Goutieres syndrome 2 [RCV002125827]	likely benign	13	50934950	50934950	Human	1	name
156286691	CV1964624	single nucleotide variant	NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr)	Aicardi-Goutieres syndrome 2 [RCV002577664]	uncertain significance	13	50927421	50927421	Human	1	name
156254200	CV1981652	single nucleotide variant	NM_024570.4(RNASEH2B):c.31G>T (p.Val11Phe)	Aicardi-Goutieres syndrome 2 [RCV002645995]	uncertain significance	13	50910107	50910107	Human	1	name
156345271	CV1995141	single nucleotide variant	NM_024570.4(RNASEH2B):c.483G>A (p.Glu161=)	Aicardi-Goutieres syndrome 2 [RCV002650538]	likely benign	13	50943367	50943367	Human	1	name
156298875	CV2017205	single nucleotide variant	NM_024570.4(RNASEH2B):c.843A>C (p.Ala281=)	Aicardi-Goutieres syndrome 2 [RCV002715966]	likely benign	13	50956378	50956378	Human	1	name
156309453	CV2031441	single nucleotide variant	NM_024570.4(RNASEH2B):c.597A>G (p.Gln199=)	Aicardi-Goutieres syndrome 2 [RCV002716447]	likely benign	13	50945513	50945513	Human	1	name
156225909	CV2048343	single nucleotide variant	NM_024570.4(RNASEH2B):c.870C>T (p.Asp290=)	Aicardi-Goutieres syndrome 2 [RCV002790812]	likely benign	13	50956405	50956405	Human	1	name
156321064	CV2067563	single nucleotide variant	NM_024570.4(RNASEH2B):c.327G>A (p.Lys109=)	Aicardi-Goutieres syndrome 2 [RCV002834698]	likely benign	13	50934890	50934890	Human	1	name
156026587	CV2100408	single nucleotide variant	NM_024570.4(RNASEH2B):c.468C>T (p.Tyr156=)	Aicardi-Goutieres syndrome 2 [RCV002885207]	likely benign	13	50943352	50943352	Human	1	name
156004598	CV2106973	single nucleotide variant	NM_024570.4(RNASEH2B):c.444A>G (p.Pro148=)	Aicardi-Goutieres syndrome 2 [RCV002947954]	likely benign	13	50943328	50943328	Human	1	name
156008672	CV2175745	single nucleotide variant	NM_024570.4(RNASEH2B):c.29G>C (p.Gly10Ala)	Aicardi-Goutieres syndrome 2 [RCV003035119]	uncertain significance	13	50910105	50910105	Human	1	name
156039674	CV2187823	single nucleotide variant	NM_024570.4(RNASEH2B):c.321G>A (p.Glu107=)	Aicardi-Goutieres syndrome 2 [RCV003036518]	uncertain significance	13	50930759	50930759	Human	1	name
156378322	CV2189284	single nucleotide variant	NM_024570.4(RNASEH2B):c.456C>T (p.Asn152=)	Aicardi-Goutieres syndrome 2 [RCV003050290]	likely benign	13	50943340	50943340	Human	1	name
401860169	CV2748828	single nucleotide variant	NM_024570.4(RNASEH2B):c.28G>C (p.Gly10Arg)	not specified [RCV003331650]	uncertain significance	13	50910104	50910104	Human		name
405102096	CV2869599	single nucleotide variant	NM_024570.4(RNASEH2B):c.474C>T (p.Tyr158=)	Aicardi-Goutieres syndrome 2 [RCV003496853]	likely benign	13	50943358	50943358	Human	1	name
402522036	CV2873090	single nucleotide variant	NM_024570.4(RNASEH2B):c.408G>A (p.Lys136=)	Aicardi-Goutieres syndrome 2 [RCV003496557]	likely benign	13	50934971	50934971	Human	1	name
405102301	CV2880639	single nucleotide variant	NM_024570.4(RNASEH2B):c.867T>A (p.Val289=)	Aicardi-Goutieres syndrome 2 [RCV003496925]	likely benign	13	50956402	50956402	Human	1	name
405102380	CV2887659	single nucleotide variant	NM_024570.4(RNASEH2B):c.555C>G (p.Val185=)	Aicardi-Goutieres syndrome 2 [RCV003496953]	likely benign	13	50945471	50945471	Human	1	name
402506874	CV2907802	single nucleotide variant	NM_024570.4(RNASEH2B):c.645G>A (p.Leu215=)	Aicardi-Goutieres syndrome 2 [RCV003495089]	likely benign	13	50948015	50948015	Human	1	name
402510644	CV2918727	single nucleotide variant	NM_024570.4(RNASEH2B):c.735A>G (p.Pro245=)	Aicardi-Goutieres syndrome 2 [RCV003495600]	likely benign	13	50949499	50949499	Human	1	name
402523289	CV2929158	single nucleotide variant	NM_024570.4(RNASEH2B):c.789T>C (p.Thr263=)	Aicardi-Goutieres syndrome 2 [RCV003496650]	likely benign	13	50953952	50953952	Human	1	name
405017231	CV2943684	single nucleotide variant	NM_024570.4(RNASEH2B):c.579A>G (p.Ala193=)	Aicardi-Goutieres syndrome 2 [RCV003600512]	likely benign	13	50945495	50945495	Human	1	name
405017432	CV2947362	single nucleotide variant	NM_024570.4(RNASEH2B):c.813G>A (p.Lys271=)	Aicardi-Goutieres syndrome 2 [RCV003600532]	likely benign	13	50953976	50953976	Human	1	name
405031027	CV2982777	single nucleotide variant	NM_024570.4(RNASEH2B):c.721T>C (p.Leu241=)	Aicardi-Goutieres syndrome 2 [RCV003601768]	likely benign	13	50949485	50949485	Human	1	name
405031060	CV2982976	single nucleotide variant	NM_024570.4(RNASEH2B):c.702T>C (p.Leu234=)	Aicardi-Goutieres syndrome 2 [RCV003601771]	likely benign	13	50949466	50949466	Human	1	name
405031382	CV2983345	single nucleotide variant	NM_024570.4(RNASEH2B):c.318G>A (p.Lys106=)	Aicardi-Goutieres syndrome 2 [RCV003601798]	likely benign	13	50930756	50930756	Human	1	name
405029937	CV2984872	single nucleotide variant	NM_024570.4(RNASEH2B):c.856T>C (p.Leu286=)	Aicardi-Goutieres syndrome 2 [RCV003601679]	likely benign	13	50956391	50956391	Human	1	name
405030888	CV2986108	single nucleotide variant	NM_024570.4(RNASEH2B):c.420T>C (p.His140=)	Aicardi-Goutieres syndrome 2 [RCV003601757]	likely benign	13	50934983	50934983	Human	1	name
405036997	CV2993808	single nucleotide variant	NM_024570.4(RNASEH2B):c.336C>T (p.Pro112=)	Aicardi-Goutieres syndrome 2 [RCV003602292]	likely benign	13	50934899	50934899	Human	1	name
405036907	CV2997217	single nucleotide variant	NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)	Aicardi-Goutieres syndrome 2 [RCV003602284]	pathogenic	13	50927411	50927411	Human	1	name
405040280	CV3007303	single nucleotide variant	NM_024570.4(RNASEH2B):c.840T>G (p.Thr280=)	Aicardi-Goutieres syndrome 2 [RCV003602516]	likely benign	13	50956375	50956375	Human	1	name
405037117	CV3011311	single nucleotide variant	NM_024570.4(RNASEH2B):c.858G>A (p.Leu286=)	Aicardi-Goutieres syndrome 2 [RCV003602303]	likely benign	13	50956393	50956393	Human	1	name
405012555	CV3018451	single nucleotide variant	NM_024570.4(RNASEH2B):c.402T>G (p.Leu134=)	Aicardi-Goutieres syndrome 2 [RCV003599932]	likely benign	13	50934965	50934965	Human	1	name
405012503	CV3018499	single nucleotide variant	NM_024570.4(RNASEH2B):c.83C>G (p.Ser28Ter)	Aicardi-Goutieres syndrome 2 [RCV003599934]	pathogenic	13	50927425	50927425	Human	1	name
405014004	CV3020111	single nucleotide variant	NM_024570.4(RNASEH2B):c.396T>G (p.Pro132=)	Aicardi-Goutieres syndrome 2 [RCV003600067]	likely benign	13	50934959	50934959	Human	1	name
405021408	CV3045262	single nucleotide variant	NM_024570.4(RNASEH2B):c.810G>A (p.Leu270=)	Aicardi-Goutieres syndrome 2 [RCV003600936]	likely benign	13	50953973	50953973	Human	1	name
405023763	CV3058225	single nucleotide variant	NM_024570.4(RNASEH2B):c.375C>T (p.Cys125=)	Aicardi-Goutieres syndrome 2 [RCV003601159]	likely benign	13	50934938	50934938	Human	1	name
405032079	CV3073581	single nucleotide variant	NM_024570.4(RNASEH2B):c.705A>G (p.Pro235=)	Aicardi-Goutieres syndrome 2 [RCV003601856]	likely benign	13	50949469	50949469	Human	1	name
405196939	CV3146682	single nucleotide variant	NM_024570.4(RNASEH2B):c.489A>G (p.Thr163=)	Aicardi-Goutieres syndrome 2 [RCV003844037]	likely benign	13	50943373	50943373	Human	1	name
405243592	CV3164873	single nucleotide variant	NM_024570.4(RNASEH2B):c.324G>A (p.Gly108=)	Aicardi-Goutieres syndrome 2 [RCV003867954]	likely benign	13	50934887	50934887	Human	1	name
11625086	CV328475	single nucleotide variant	NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=)	Aicardi-Goutieres syndrome 2 [RCV000873784]\|not provided [RCV001310693]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	50953919	50953919	Human	1	name
11652666	CV328476	single nucleotide variant	NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=)	Aicardi-Goutieres syndrome 2 [RCV000306516]	conflicting interpretations of pathogenicity\|uncertain significance	13	50956432	50956432	Human	1	name
405753966	CV3316329	single nucleotide variant	NM_024570.4(RNASEH2B):c.80C>T (p.Ala27Val)	Inborn genetic diseases [RCV004454214]	uncertain significance	13	50927422	50927422	Human	1	name
597926452	CV3748904	single nucleotide variant	NM_024570.4(RNASEH2B):c.28G>T (p.Gly10Trp)	Aicardi-Goutieres syndrome 2 [RCV005075360]	uncertain significance	13	50910104	50910104	Human	1	name
597942866	CV3757884	single nucleotide variant	NM_024570.4(RNASEH2B):c.379T>C (p.Leu127=)	Aicardi-Goutieres syndrome 2 [RCV005077883]	likely benign	13	50934942	50934942	Human	1	name
597956804	CV3800302	single nucleotide variant	NM_024570.4(RNASEH2B):c.855T>A (p.Ala285=)	Aicardi-Goutieres syndrome 2 [RCV005137394]	likely benign	13	50956390	50956390	Human	1	name
597956721	CV3818023	single nucleotide variant	NM_024570.4(RNASEH2B):c.429G>A (p.Glu143=)	Aicardi-Goutieres syndrome 2 [RCV005162474]	likely benign	13	50934992	50934992	Human	1	name
597902408	CV3851441	single nucleotide variant	NM_024570.4(RNASEH2B):c.486G>A (p.Lys162=)	Aicardi-Goutieres syndrome 2 [RCV005202218]	likely benign	13	50943370	50943370	Human	1	name
13211456	CV426046	single nucleotide variant	NM_024570.4(RNASEH2B):c.58G>C (p.Val20Leu)	Aicardi-Goutieres syndrome 2 [RCV002524106]\|not provided [RCV000497467]	likely pathogenic\|uncertain significance	13	50910134	50910134	Human	1	name
13622790	CV528317	single nucleotide variant	NM_024570.4(RNASEH2B):c.40C>T (p.Arg14Trp)	Aicardi-Goutieres syndrome 2 [RCV000650222]	uncertain significance	13	50910116	50910116	Human	1	name
13808378	CV568621	deletion	NM_024570.4(RNASEH2B):c.121del (p.Val41fs)	Aicardi-Goutieres syndrome 2 [RCV000687242]	pathogenic	13	50927462	50927462	Human	1	name
14693058	CV620473	deletion	NM_024570.4(RNASEH2B):c.285del (p.Leu96fs)	Aicardi-Goutieres syndrome 2 [RCV000778397]	uncertain significance	13	50930721	50930721	Human		name
15150037	CV702720	single nucleotide variant	NM_024570.4(RNASEH2B):c.762G>A (p.Glu254=)	Aicardi-Goutieres syndrome 2 [RCV000945418]\|RNASEH2B-related disorder [RCV003970642]\|not provided [RCV003392702]	likely benign	13	50953925	50953925	Human	1	name , trait , alternate_id
15129615	CV739066	single nucleotide variant	NM_024570.4(RNASEH2B):c.300C>T (p.Tyr100=)	Aicardi-Goutieres syndrome 2 [RCV001402836]	likely benign	13	50930738	50930738	Human	1	name
15097946	CV753863	single nucleotide variant	NM_024570.4(RNASEH2B):c.894T>C (p.Asp298=)	Aicardi-Goutieres syndrome 2 [RCV002540869]	likely benign	13	50956429	50956429	Human	1	name
15120880	CV769587	single nucleotide variant	NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=)	Aicardi-Goutieres syndrome 2 [RCV001110763]\|RNASEH2B-related disorder [RCV003970620]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	50934923	50934923	Human	1	name , trait , alternate_id
28911547	CV871402	single nucleotide variant	NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly)	Aicardi-Goutieres syndrome 2 [RCV001110761]	uncertain significance	13	50927419	50927419	Human	1	name
28911548	CV871403	single nucleotide variant	NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr)	Aicardi-Goutieres syndrome 2 [RCV001110762]	uncertain significance	13	50927434	50927434	Human	1	name
28868817	CV871405	single nucleotide variant	NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=)	Aicardi-Goutieres syndrome 2 [RCV001112751]\|RNASEH2B-related disorder [RCV003918694]	likely benign\|uncertain significance	13	50945444	50945444	Human	1	name , trait , alternate_id
38493451	CV926940	single nucleotide variant	NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln)	Aicardi-Goutieres syndrome 2 [RCV001224251]\|Inborn genetic diseases [RCV004032499]\|not provided [RCV004720804]\|not specified [RCV005236696]	uncertain significance	13	50910117	50910117	Human	2	name
38493607	CV926941	single nucleotide variant	NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu)	Aicardi-Goutieres syndrome 2 [RCV001224374]	uncertain significance	13	50927430	50927430	Human	1	name
38476958	CV948406	single nucleotide variant	NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe)	Aicardi-Goutieres syndrome 2 [RCV001233311]	uncertain significance	13	50927414	50927414	Human	1	name
126767732	CV1031412	single nucleotide variant	NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile)	Aicardi-Goutieres syndrome 2 [RCV001342946]	uncertain significance	13	50929507	50929507	Human	1	name
126755064	CV1031413	single nucleotide variant	NM_024570.4(RNASEH2B):c.239A>G (p.Gln80Arg)	Aicardi-Goutieres syndrome 2 [RCV001338961]	uncertain significance	13	50929577	50929577	Human	1	name
126908144	CV1048372	single nucleotide variant	NM_024570.4(RNASEH2B):c.219G>T (p.Trp73Cys)	Aicardi-Goutieres syndrome 2 [RCV001367637]	uncertain significance	13	50929557	50929557	Human	1	name
127243709	CV1063013	single nucleotide variant	NM_024570.4(RNASEH2B):c.132T>A (p.Cys44Ter)	Aicardi-Goutieres syndrome 2 [RCV001384074]	pathogenic	13	50927474	50927474	Human	1	name
151836061	CV1378809	single nucleotide variant	NM_024570.4(RNASEH2B):c.165G>T (p.Met55Ile)	Aicardi-Goutieres syndrome 2 [RCV001880796]	uncertain significance	13	50929503	50929503	Human	1	name
151866092	CV1392860	single nucleotide variant	NM_024570.4(RNASEH2B):c.248G>T (p.Gly83Val)	Aicardi-Goutieres syndrome 2 [RCV001939178]	uncertain significance	13	50930686	50930686	Human	1	name
151879981	CV1405759	single nucleotide variant	NM_024570.4(RNASEH2B):c.241T>G (p.Ser81Ala)	Aicardi-Goutieres syndrome 2 [RCV001940874]\|Inborn genetic diseases [RCV004042019]	uncertain significance	13	50929579	50929579	Human	2	name
151808366	CV1407086	deletion	NM_024570.4(RNASEH2B):c.929del (p.Gly310fs)	Aicardi-Goutieres syndrome 2 [RCV002048619]	uncertain significance	13	50956463	50956463	Human	1	name
151750537	CV1415688	single nucleotide variant	NM_024570.4(RNASEH2B):c.111T>G (p.Phe37Leu)	Aicardi-Goutieres syndrome 2 [RCV001927477]	uncertain significance	13	50927453	50927453	Human	1	name
151861663	CV1423445	single nucleotide variant	NM_024570.4(RNASEH2B):c.143G>A (p.Gly48Glu)	Aicardi-Goutieres syndrome 2 [RCV001997209]	uncertain significance	13	50929481	50929481	Human	1	name
151753243	CV1426982	single nucleotide variant	NM_024570.4(RNASEH2B):c.146C>T (p.Ala49Val)	Aicardi-Goutieres syndrome 2 [RCV002007081]	uncertain significance	13	50929484	50929484	Human	1	name
151827323	CV1438624	deletion	NM_024570.4(RNASEH2B):c.476del (p.Ser159fs)	Aicardi-Goutieres syndrome 2 [RCV001993362]	pathogenic	13	50943360	50943360	Human	1	name
151803459	CV1444016	single nucleotide variant	NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter)	Aicardi-Goutieres syndrome 2 [RCV001917925]	pathogenic\|likely pathogenic	13	50929510	50929510	Human	1	name
151853789	CV1455497	single nucleotide variant	NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys)	Aicardi-Goutieres syndrome 2 [RCV002016930]	uncertain significance	13	50929522	50929522	Human	1	name
151835432	CV1463362	single nucleotide variant	NM_024570.4(RNASEH2B):c.173A>G (p.Gln58Arg)	Aicardi-Goutieres syndrome 2 [RCV001880732]	uncertain significance	13	50929511	50929511	Human	1	name
151800053	CV1494043	single nucleotide variant	NM_024570.4(RNASEH2B):c.286C>A (p.Leu96Met)	Aicardi-Goutieres syndrome 2 [RCV001952836]	uncertain significance	13	50930724	50930724	Human	1	name
151725102	CV1515093	duplication	NM_024570.4(RNASEH2B):c.827dup (p.Asn276fs)	Aicardi-Goutieres syndrome 2 [RCV001983583]	uncertain significance	13	50956357	50956358	Human	1	name
151888865	CV1517291	single nucleotide variant	NM_024570.4(RNASEH2B):c.193G>A (p.Val65Ile)	Aicardi-Goutieres syndrome 2 [RCV002038486]\|Inborn genetic diseases [RCV004656843]	uncertain significance	13	50929531	50929531	Human	2	name
156313298	CV1874623	single nucleotide variant	NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His)	Aicardi-Goutieres syndrome 2 [RCV003062587]\|not specified [RCV004690349]	uncertain significance	13	50927470	50927470	Human	1	name
155965744	CV1948558	single nucleotide variant	NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met)	Aicardi-Goutieres syndrome 2 [RCV003111680]\|Inborn genetic diseases [RCV002817249]	likely benign\|uncertain significance	13	50930709	50930709	Human	2	name
155944381	CV2003061	single nucleotide variant	NM_024570.4(RNASEH2B):c.121G>A (p.Val41Ile)	Aicardi-Goutieres syndrome 2 [RCV002685658]	uncertain significance	13	50927463	50927463	Human	1	name
156121219	CV2039564	duplication	NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs)	Aicardi-Goutieres syndrome 2 [RCV002800232]	uncertain significance	13	50956443	50956444	Human	1	name
156000065	CV2045501	single nucleotide variant	NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg)	Aicardi-Goutieres syndrome 2 [RCV002756158]	uncertain significance	13	50930707	50930707	Human	1	name
155912666	CV2153417	single nucleotide variant	NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val)	Aicardi-Goutieres syndrome 2 [RCV003012368]	uncertain significance	13	50929561	50929561	Human	1	name
156063572	CV2179691	single nucleotide variant	NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe)	Aicardi-Goutieres syndrome 2 [RCV003039417]\|Inborn genetic diseases [RCV003053494]	uncertain significance	13	50929494	50929494	Human	2	name
12907361	CV227352	deletion	NM_024570.4(RNASEH2B):c.509del (p.Lys170fs)	Aicardi-Goutieres syndrome 2 [RCV000490364]	conflicting interpretations of pathogenicity\|uncertain significance	13	50943387	50943387	Human	1	name
11581270	CV265435	duplication	NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)	Aicardi Goutieres syndrome [RCV000363416]\|Aicardi-Goutieres syndrome 2 [RCV001522769]\|not provided [RCV001642883]\|not specified [RCV000318531]	benign\|likely benign	13	50956450	50956451	Human	2	name
401739415	CV2738559	single nucleotide variant	NM_024570.4(RNASEH2B):c.263C>G (p.Ala88Gly)	not specified [RCV003317951]	uncertain significance	13	50930701	50930701	Human		name
401855406	CV2752908	single nucleotide variant	NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys)	Aicardi-Goutieres syndrome 2 [RCV003337962]	uncertain significance	13	50929500	50929500	Human	1	name
402522292	CV2922288	deletion	NM_024570.4(RNASEH2B):c.648del (p.Ser217fs)	Aicardi-Goutieres syndrome 2 [RCV003496579]	pathogenic	13	50948018	50948018	Human	1	name
405030095	CV2978142	duplication	NM_024570.4(RNASEH2B):c.509dup (p.Val171fs)	Aicardi-Goutieres syndrome 2 [RCV003601692]	pathogenic	13	50943386	50943387	Human	1	name
11601413	CV319941	single nucleotide variant	NM_024570.4(RNASEH2B):c.127C>T (p.Pro43Ser)	Aicardi-Goutieres syndrome 2 [RCV000687449]	uncertain significance	13	50927469	50927469	Human	1	name
597971950	CV3833261	single nucleotide variant	NM_024570.4(RNASEH2B):c.268C>T (p.Pro90Ser)	Aicardi-Goutieres syndrome 2 [RCV005167158]	uncertain significance	13	50930706	50930706	Human	1	name
598125547	CV3881708	deletion	NM_024570.4(RNASEH2B):c.371del (p.Asn124fs)	Aicardi-Goutieres syndrome 2 [RCV005232596]	likely pathogenic	13	50934932	50934932	Human	1	name
13622789	CV527818	single nucleotide variant	NM_024570.4(RNASEH2B):c.269C>T (p.Pro90Leu)	Aicardi-Goutieres syndrome 2 [RCV000650221]	uncertain significance	13	50930707	50930707	Human	1	name
14713998	CV642019	single nucleotide variant	NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg)	Aicardi Goutieres syndrome [RCV004689883]\|Aicardi-Goutieres syndrome 2 [RCV000794275]\|not provided [RCV005054262]	likely pathogenic	13	50929517	50929517	Human	2	name
15137295	CV693393	single nucleotide variant	NM_024570.4(RNASEH2B):c.203A>G (p.Glu68Gly)	Aicardi-Goutieres syndrome 2 [RCV000876971]\|RNASEH2B-related disorder [RCV003938377]\|not provided [RCV003392671]	likely benign\|conflicting interpretations of pathogenicity	13	50929541	50929541	Human	1	name , trait , alternate_id
21067596	CV793494	deletion	NM_024570.4(RNASEH2B):c.925del (p.Ile309fs)	Aicardi-Goutieres syndrome 2 [RCV001514995]\|not provided [RCV000992757]	benign\|conflicting interpretations of pathogenicity	13	50956451	50956451	Human	1	name
26884532	CV840978	single nucleotide variant	NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val)	Aicardi-Goutieres syndrome 2 [RCV001064926]\|not provided [RCV004693560]	uncertain significance	13	50930688	50930688	Human	1	name
28876031	CV858760	duplication	NM_024570.4(RNASEH2B):c.491dup (p.Leu164fs)	Aicardi-Goutieres syndrome 2 [RCV001090173]	pathogenic	13	50943373	50943374	Human	1	name
38486325	CV936478	single nucleotide variant	NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln)	Aicardi-Goutieres syndrome 2 [RCV001208845]\|Inborn genetic diseases [RCV004033744]	uncertain significance	13	50929540	50929540	Human	2	name
40814804	CV970145	single nucleotide variant	NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe)	Aicardi-Goutieres syndrome 2 [RCV001261530]\|not specified [RCV005236744]	uncertain significance	13	50930691	50930691	Human	1	name
126758785	CV1010906	single nucleotide variant	NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln)	Aicardi-Goutieres syndrome 2 [RCV001317876]\|Inborn genetic diseases [RCV002543738]	uncertain significance	13	50945479	50945479	Human	2	name
126754845	CV1031414	single nucleotide variant	NM_024570.4(RNASEH2B):c.429G>C (p.Glu143Asp)	Aicardi-Goutieres syndrome 2 [RCV001338911]	uncertain significance	13	50934992	50934992	Human	1	name
126747148	CV1031415	single nucleotide variant	NM_024570.4(RNASEH2B):c.609C>A (p.Asp203Glu)	Aicardi-Goutieres syndrome 2 [RCV001351629]	uncertain significance	13	50945525	50945525	Human	1	name
126922127	CV1048373	single nucleotide variant	NM_024570.4(RNASEH2B):c.361G>T (p.Val121Leu)	Aicardi-Goutieres syndrome 2 [RCV001364304]	uncertain significance	13	50934924	50934924	Human	1	name
126923399	CV1048374	single nucleotide variant	NM_024570.4(RNASEH2B):c.734C>T (p.Pro245Leu)	Aicardi-Goutieres syndrome 2 [RCV001365797]	uncertain significance	13	50949498	50949498	Human	1	name
127307927	CV1157166	single nucleotide variant	NM_024570.4(RNASEH2B):c.788C>G (p.Thr263Ser)	Aicardi-Goutieres syndrome 2 [RCV001517309]	benign	13	50953951	50953951	Human	1	name
150333333	CV1164443	single nucleotide variant	NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp)	Aicardi-Goutieres syndrome 2 [RCV001873737]\|not provided [RCV001528844]	uncertain significance	13	50945478	50945478	Human	1	name
151662549	CV1333189	single nucleotide variant	NM_024570.4(RNASEH2B):c.830G>A (p.Ser277Asn)	Aicardi-Goutieres syndrome 2 [RCV001837422]\|Inborn genetic diseases [RCV002542809]	uncertain significance	13	50956365	50956365	Human	2	name
151860024	CV1337535	single nucleotide variant	NM_024570.4(RNASEH2B):c.542A>G (p.Asn181Ser)	Aicardi-Goutieres syndrome 2 [RCV001923881]	uncertain significance	13	50945458	50945458	Human	1	name
151829885	CV1343380	single nucleotide variant	NM_024570.4(RNASEH2B):c.639T>A (p.His213Gln)	Aicardi-Goutieres syndrome 2 [RCV001920388]	uncertain significance	13	50948009	50948009	Human	1	name
151861996	CV1353397	single nucleotide variant	NM_024570.4(RNASEH2B):c.913A>C (p.Asn305His)	Aicardi-Goutieres syndrome 2 [RCV001924116]	uncertain significance	13	50956448	50956448	Human	1	name
151709660	CV1360986	single nucleotide variant	NM_024570.4(RNASEH2B):c.565G>T (p.Val189Leu)	Aicardi-Goutieres syndrome 2 [RCV001889097]	uncertain significance	13	50945481	50945481	Human	1	name
151748406	CV1362535	single nucleotide variant	NM_024570.4(RNASEH2B):c.838A>C (p.Thr280Pro)	Aicardi-Goutieres syndrome 2 [RCV001968911]	uncertain significance	13	50956373	50956373	Human	1	name
151737306	CV1364698	single nucleotide variant	NM_024570.4(RNASEH2B):c.614A>G (p.Glu205Gly)	Aicardi-Goutieres syndrome 2 [RCV002021957]	uncertain significance	13	50945530	50945530	Human	1	name
151710066	CV1372263	single nucleotide variant	NM_024570.4(RNASEH2B):c.589G>T (p.Gly197Cys)	Aicardi-Goutieres syndrome 2 [RCV001964109]	uncertain significance	13	50945505	50945505	Human	1	name
151863620	CV1374455	single nucleotide variant	NM_024570.4(RNASEH2B):c.601T>C (p.Ser201Pro)	Aicardi-Goutieres syndrome 2 [RCV001884260]	uncertain significance	13	50945517	50945517	Human	1	name
151792107	CV1375836	single nucleotide variant	NM_024570.4(RNASEH2B):c.440A>C (p.Asn147Thr)	Aicardi-Goutieres syndrome 2 [RCV001973148]	uncertain significance	13	50943324	50943324	Human	1	name
151836599	CV1383092	single nucleotide variant	NM_024570.4(RNASEH2B):c.376A>G (p.Ile126Val)	Aicardi-Goutieres syndrome 2 [RCV001935622]	uncertain significance	13	50934939	50934939	Human	1	name
151796856	CV1400973	single nucleotide variant	NM_024570.4(RNASEH2B):c.629G>A (p.Arg210His)	Aicardi-Goutieres syndrome 2 [RCV002011205]	uncertain significance	13	50947999	50947999	Human	1	name
151834355	CV1408286	single nucleotide variant	NM_024570.4(RNASEH2B):c.617A>C (p.Glu206Ala)	Aicardi-Goutieres syndrome 2 [RCV001935383]	uncertain significance	13	50947987	50947987	Human	1	name
151767423	CV1410340	single nucleotide variant	NM_024570.4(RNASEH2B):c.330T>G (p.Phe110Leu)	Aicardi-Goutieres syndrome 2 [RCV001987914]	uncertain significance	13	50934893	50934893	Human	1	name
151667875	CV1414522	single nucleotide variant	NM_024570.4(RNASEH2B):c.476G>A (p.Ser159Asn)	Aicardi-Goutieres syndrome 2 [RCV001870672]\|Inborn genetic diseases [RCV004953222]	uncertain significance	13	50943360	50943360	Human	2	name
151729549	CV1416576	single nucleotide variant	NM_024570.4(RNASEH2B):c.361G>A (p.Val121Met)	Aicardi-Goutieres syndrome 2 [RCV002004627]	uncertain significance	13	50934924	50934924	Human	1	name
151758628	CV1421598	single nucleotide variant	NM_024570.4(RNASEH2B):c.407A>C (p.Lys136Thr)	Aicardi-Goutieres syndrome 2 [RCV001895048]	uncertain significance	13	50934970	50934970	Human	1	name
151753545	CV1429269	single nucleotide variant	NM_024570.4(RNASEH2B):c.304A>G (p.Ile102Val)	Aicardi-Goutieres syndrome 2 [RCV002007104]	uncertain significance	13	50930742	50930742	Human	1	name
151798866	CV1429949	single nucleotide variant	NM_024570.4(RNASEH2B):c.394C>A (p.Pro132Thr)	Aicardi-Goutieres syndrome 2 [RCV001990763]	uncertain significance	13	50934957	50934957	Human	1	name
151709723	CV1433289	single nucleotide variant	NM_024570.4(RNASEH2B):c.577G>A (p.Ala193Thr)	Aicardi-Goutieres syndrome 2 [RCV002001700]	uncertain significance	13	50945493	50945493	Human	1	name
151726612	CV1433539	single nucleotide variant	NM_024570.4(RNASEH2B):c.405G>C (p.Glu135Asp)	Aicardi-Goutieres syndrome 2 [RCV001983756]	uncertain significance	13	50934968	50934968	Human	1	name
151755368	CV1433871	single nucleotide variant	NM_024570.4(RNASEH2B):c.916A>T (p.Lys306Ter)	Aicardi-Goutieres syndrome 2 [RCV002043699]\|not provided [RCV003883744]	uncertain significance	13	50956451	50956451	Human	1	name
151846682	CV1434883	single nucleotide variant	NM_024570.4(RNASEH2B):c.685T>C (p.Ser229Pro)	Aicardi-Goutieres syndrome 2 [RCV001922213]	uncertain significance	13	50948055	50948055	Human	1	name
151785184	CV1435308	single nucleotide variant	NM_024570.4(RNASEH2B):c.623A>G (p.Tyr208Cys)	Aicardi-Goutieres syndrome 2 [RCV001916247]	uncertain significance	13	50947993	50947993	Human	1	name
151818736	CV1435760	single nucleotide variant	NM_024570.4(RNASEH2B):c.719C>T (p.Ser240Leu)	Aicardi-Goutieres syndrome 2 [RCV001933934]	uncertain significance	13	50949483	50949483	Human	1	name
151841769	CV1435922	single nucleotide variant	NM_024570.4(RNASEH2B):c.905G>A (p.Gly302Glu)	Aicardi-Goutieres syndrome 2 [RCV001956841]	uncertain significance	13	50956440	50956440	Human	1	name
151816322	CV1440971	single nucleotide variant	NM_024570.4(RNASEH2B):c.631T>C (p.Tyr211His)	Aicardi-Goutieres syndrome 2 [RCV001933709]	uncertain significance	13	50948001	50948001	Human	1	name
151780195	CV1442750	single nucleotide variant	NM_024570.4(RNASEH2B):c.655T>C (p.Tyr219His)	Aicardi-Goutieres syndrome 2 [RCV002009665]	uncertain significance	13	50948025	50948025	Human	1	name
151890223	CV1447983	single nucleotide variant	NM_024570.4(RNASEH2B):c.902T>C (p.Phe301Ser)	Aicardi-Goutieres syndrome 2 [RCV001942983]	uncertain significance	13	50956437	50956437	Human	1	name
151738820	CV1454611	single nucleotide variant	NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter)	Aicardi Goutieres syndrome [RCV003235636]\|Aicardi-Goutieres syndrome 2 [RCV001946895]	pathogenic	13	50934894	50934894	Human	2	name
151875904	CV1458533	single nucleotide variant	NM_024570.4(RNASEH2B):c.638A>G (p.His213Arg)	Aicardi-Goutieres syndrome 2 [RCV001998932]	uncertain significance	13	50948008	50948008	Human	1	name
151863174	CV1460737	single nucleotide variant	NM_024570.4(RNASEH2B):c.628C>T (p.Arg210Cys)	Aicardi-Goutieres syndrome 2 [RCV001905561]	uncertain significance	13	50947998	50947998	Human	1	name
151887024	CV1471869	single nucleotide variant	NM_024570.4(RNASEH2B):c.521C>T (p.Thr174Ile)	Aicardi-Goutieres syndrome 2 [RCV002000800]	uncertain significance	13	50945437	50945437	Human	1	name
151726862	CV1498881	single nucleotide variant	NM_024570.4(RNASEH2B):c.571T>A (p.Ser191Thr)	Aicardi-Goutieres syndrome 2 [RCV002040794]	uncertain significance	13	50945487	50945487	Human	1	name
151719129	CV1505796	single nucleotide variant	NM_024570.4(RNASEH2B):c.914A>C (p.Asn305Thr)	Aicardi-Goutieres syndrome 2 [RCV002039802]	uncertain significance	13	50956449	50956449	Human	1	name
151811427	CV1516838	single nucleotide variant	NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn)	Aicardi-Goutieres syndrome 2 [RCV002012474]\|not specified [RCV003235650]	uncertain significance	13	50953907	50953907	Human	1	name
8556074	CV16301	single nucleotide variant	NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	Abnormality of the nervous system [RCV001813931]\|Aicardi Goutieres syndrome [RCV000343151]\|Aicardi-Goutieres syndrome 2 [RCV000001324]\|Autism spectrum disorder [RCV003125824]\|Cerebral palsy [RCV001293274]\|Inborn genetic diseases [RCV004018532]\|RNASEH2B-related d ... (more) isorder [RCV003415614]\|not provided [RCV000274058]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	50945445	50945445	Human	10	name , trait , alternate_id
8556074	CV16301	single nucleotide variant	NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	Abnormality of the nervous system [RCV001813931]\|Aicardi Goutieres syndrome [RCV000343151]\|Aicardi-Goutieres syndrome 2 [RCV000001324]\|Autism spectrum disorder [RCV003125824]\|Cerebral palsy [RCV001293274]\|Inborn genetic diseases [RCV004018532]\|RNASEH2B-related d ... (more) isorder [RCV003415614]\|not provided [RCV000274058]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	50945445	50945446	Human	10	name , trait , alternate_id
8556075	CV16302	single nucleotide variant	NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)	Aicardi-Goutieres syndrome 2 [RCV000001325]\|not provided [RCV001729330]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	50945470	50945470	Human	1	name
155664658	CV1773269	single nucleotide variant	NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His)	Aicardi-Goutieres syndrome 2 [RCV002296981]	uncertain significance	13	50956384	50956384	Human	1	name
155666947	CV1773406	single nucleotide variant	NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser)	Aicardi-Goutieres syndrome 2 [RCV002297118]	uncertain significance	13	50949479	50949479	Human	1	name
155747001	CV1778137	single nucleotide variant	NM_024570.4(RNASEH2B):c.556A>G (p.Ser186Gly)	Aicardi-Goutieres syndrome 2 [RCV002303508]	uncertain significance	13	50945472	50945472	Human	1	name
156326133	CV1887217	single nucleotide variant	NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala)	Aicardi-Goutieres syndrome 2 [RCV003089498]	uncertain significance	13	50953930	50953930	Human	1	name
10045096	CV188848	single nucleotide variant	NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)	Aicardi-Goutieres syndrome 1 [RCV003987401]\|Aicardi-Goutieres syndrome 2 [RCV000492016]\|not provided [RCV000171218]	pathogenic\|likely pathogenic\|no classifications from unflagged records	13	50934919	50934919	Human	2	name
156386196	CV1961270	single nucleotide variant	NM_024570.4(RNASEH2B):c.677A>T (p.Asp226Val)	Aicardi-Goutieres syndrome 2 [RCV002583504]	uncertain significance	13	50948047	50948047	Human	1	name
156120931	CV2004182	single nucleotide variant	NM_024570.4(RNASEH2B):c.575C>T (p.Thr192Ile)	Aicardi-Goutieres syndrome 2 [RCV002662851]	uncertain significance	13	50945491	50945491	Human	1	name
156321291	CV2025401	single nucleotide variant	NM_024570.4(RNASEH2B):c.890T>C (p.Ile297Thr)	Aicardi-Goutieres syndrome 2 [RCV002717107]	uncertain significance	13	50956425	50956425	Human	1	name
156347164	CV2051964	single nucleotide variant	NM_024570.4(RNASEH2B):c.467A>G (p.Tyr156Cys)	Aicardi-Goutieres syndrome 2 [RCV002811526]	uncertain significance	13	50943351	50943351	Human	1	name
156099225	CV2103071	single nucleotide variant	NM_024570.4(RNASEH2B):c.598G>A (p.Ala200Thr)	Aicardi-Goutieres syndrome 2 [RCV002913339]	uncertain significance	13	50945514	50945514	Human	1	name
156026200	CV2108719	single nucleotide variant	NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His)	Aicardi-Goutieres syndrome 2 [RCV002909852]	uncertain significance	13	50934908	50934908	Human	1	name
156349649	CV2125495	single nucleotide variant	NM_024570.4(RNASEH2B):c.299A>G (p.Tyr100Cys)	Aicardi-Goutieres syndrome 2 [RCV002966204]	uncertain significance	13	50930737	50930737	Human	1	name
156230538	CV2140956	single nucleotide variant	NM_024570.4(RNASEH2B):c.520A>G (p.Thr174Ala)	Aicardi-Goutieres syndrome 2 [RCV003007724]	uncertain significance	13	50945436	50945436	Human	1	name
155931292	CV2156596	single nucleotide variant	NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu)	Aicardi-Goutieres syndrome 2 [RCV003013646]	uncertain significance	13	50934915	50934915	Human	1	name
156298387	CV2159416	single nucleotide variant	NM_024570.4(RNASEH2B):c.607G>C (p.Asp203His)	Aicardi-Goutieres syndrome 2 [RCV003045433]	uncertain significance	13	50945523	50945523	Human	1	name
156222635	CV2168431	single nucleotide variant	NM_024570.4(RNASEH2B):c.365T>G (p.Phe122Cys)	Aicardi-Goutieres syndrome 2 [RCV003042782]	uncertain significance	13	50934928	50934928	Human	1	name
156111846	CV2171731	single nucleotide variant	NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe)	Aicardi-Goutieres syndrome 2 [RCV003038977]	uncertain significance	13	50949487	50949487	Human	1	name
156288766	CV2172453	single nucleotide variant	NM_024570.4(RNASEH2B):c.911A>T (p.Lys304Ile)	Aicardi-Goutieres syndrome 2 [RCV003027592]	uncertain significance	13	50956446	50956446	Human	1	name
156182048	CV2182402	single nucleotide variant	NM_024570.4(RNASEH2B):c.580T>C (p.Phe194Leu)	Aicardi-Goutieres syndrome 2 [RCV003057560]	uncertain significance	13	50945496	50945496	Human	1	name
156294339	CV2306404	single nucleotide variant	NM_024570.4(RNASEH2B):c.477C>A (p.Ser159Arg)	Inborn genetic diseases [RCV002897408]	uncertain significance	13	50943361	50943361	Human	1	name
156435283	CV2403513	single nucleotide variant	NM_024570.4(RNASEH2B):c.845C>T (p.Ala282Val)	Autism spectrum disorder [RCV003127449]\|not provided [RCV004696311]	uncertain significance	13	50956380	50956380	Human	2	name
329400713	CV2438692	single nucleotide variant	NM_024570.4(RNASEH2B):c.763C>G (p.Pro255Ala)	Inborn genetic diseases [RCV003197714]	uncertain significance	13	50953926	50953926	Human	1	name
329394745	CV2457624	single nucleotide variant	NM_024570.4(RNASEH2B):c.862A>G (p.Lys288Glu)	Inborn genetic diseases [RCV003193894]	uncertain significance	13	50956397	50956397	Human	1	name
11579413	CV270631	single nucleotide variant	NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala)	Aicardi-Goutieres syndrome 2 [RCV000690624]\|not provided [RCV000310729]\|not specified [RCV001844113]	uncertain significance	13	50953950	50953950	Human	1	name
401736877	CV2717822	single nucleotide variant	NM_024570.4(RNASEH2B):c.419A>G (p.His140Arg)	Inborn genetic diseases [RCV003273283]	uncertain significance	13	50934982	50934982	Human	1	name
404993238	CV2852666	single nucleotide variant	NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)	Aicardi Goutieres syndrome [RCV003490846]	pathogenic	13	50949501	50949501	Human	1	name
402519356	CV2874445	duplication	NM_024570.4(RNASEH2B):c.47_48dup (p.Val17fs)	Aicardi-Goutieres syndrome 2 [RCV003496314]	pathogenic	13	50910121	50910122	Human	1	name
402521670	CV2876101	single nucleotide variant	NM_024570.4(RNASEH2B):c.618G>T (p.Glu206Asp)	Aicardi-Goutieres syndrome 2 [RCV003496502]	uncertain significance	13	50947988	50947988	Human	1	name
405708787	CV3225554	single nucleotide variant	NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val)	Aicardi-Goutieres syndrome 2 [RCV003990611]	uncertain significance	13	50953981	50953981	Human	1	name
11625085	CV336819	single nucleotide variant	NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)	Aicardi-Goutieres syndrome 2 [RCV000609736]\|not provided [RCV000487541]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	50943339	50943339	Human	1	name
11613864	CV336834	single nucleotide variant	NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser)	Aicardi-Goutieres syndrome 2 [RCV001085586]\|not provided [RCV000426202]\|not specified [RCV001727679]	benign\|likely benign	13	50956394	50956394	Human	1	name
407475953	CV3483441	single nucleotide variant	NM_024570.4(RNASEH2B):c.893A>G (p.Asp298Gly)	Inborn genetic diseases [RCV004663356]	uncertain significance	13	50956428	50956428	Human	1	name
12742070	CV360007	single nucleotide variant	NM_024570.4(RNASEH2B):c.412C>T (p.Leu138Phe)	Aicardi-Goutieres syndrome 2 [RCV000697138]\|not provided [RCV000412805]	likely pathogenic\|uncertain significance	13	50934975	50934975	Human	1	name
597686234	CV3714399	single nucleotide variant	NM_024570.4(RNASEH2B):c.468C>G (p.Tyr156Ter)	Aicardi-Goutieres syndrome 2 [RCV005006912]	pathogenic\|likely pathogenic	13	50943352	50943352	Human	1	name
597965978	CV3751469	single nucleotide variant	NM_024570.4(RNASEH2B):c.926T>A (p.Ile309Asn)	Aicardi-Goutieres syndrome 2 [RCV005082838]	uncertain significance	13	50956461	50956461	Human	1	name
597863602	CV3814051	single nucleotide variant	NM_024570.4(RNASEH2B):c.352G>C (p.Val118Leu)	Aicardi-Goutieres syndrome 2 [RCV005147120]	uncertain significance	13	50934915	50934915	Human	1	name
598230376	CV3899343	single nucleotide variant	NM_024570.4(RNASEH2B):c.646A>G (p.Ile216Val)	Inborn genetic diseases [RCV005274335]	uncertain significance	13	50948016	50948016	Human	1	name
13474706	CV445156	single nucleotide variant	NM_024570.4(RNASEH2B):c.649T>C (p.Ser217Pro)	not provided [RCV000519718]	likely pathogenic	13	50948019	50948019	Human		name
13622791	CV528154	single nucleotide variant	NM_024570.4(RNASEH2B):c.667G>T (p.Glu223Ter)	Aicardi-Goutieres syndrome 2 [RCV000650223]	pathogenic	13	50948037	50948037	Human	1	name
13816948	CV566169	single nucleotide variant	NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)	Aicardi-Goutieres syndrome 2 [RCV000706699]	pathogenic\|likely pathogenic	13	50949483	50949483	Human	1	name
13813231	CV568625	single nucleotide variant	NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala)	Aicardi-Goutieres syndrome 2 [RCV000690007]\|Inborn genetic diseases [RCV004026346]\|not provided [RCV003392525]	uncertain significance	13	50930752	50930752	Human	2	name
13811245	CV577339	single nucleotide variant	NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn)	Aicardi-Goutieres syndrome 2 [RCV001224359]\|not provided [RCV000712935]	uncertain significance	13	50956403	50956403	Human	1	name
14727109	CV642020	single nucleotide variant	NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg)	Aicardi-Goutieres syndrome 2 [RCV000799508]\|not provided [RCV004792485]	uncertain significance	13	50930746	50930746	Human	1	name
14706454	CV642021	single nucleotide variant	NM_024570.4(RNASEH2B):c.428A>T (p.Glu143Val)	Aicardi-Goutieres syndrome 2 [RCV000808447]	uncertain significance	13	50934991	50934991	Human	1	name
14738357	CV642022	single nucleotide variant	NM_024570.4(RNASEH2B):c.445G>C (p.Glu149Gln)	Aicardi-Goutieres syndrome 2 [RCV000820895]	uncertain significance	13	50943329	50943329	Human	1	name
14725077	CV642023	single nucleotide variant	NM_024570.4(RNASEH2B):c.448A>G (p.Ile150Val)	Aicardi-Goutieres syndrome 2 [RCV000815051]	uncertain significance	13	50943332	50943332	Human	1	name
14741629	CV642024	single nucleotide variant	NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile)	Aicardi-Goutieres syndrome 2 [RCV000805861]	pathogenic\|likely pathogenic	13	50943372	50943372	Human	1	name
14734364	CV642025	single nucleotide variant	NM_024570.4(RNASEH2B):c.523G>A (p.Val175Met)	Aicardi-Goutieres syndrome 2 [RCV000802711]	uncertain significance	13	50945439	50945439	Human	1	name
14743531	CV642027	single nucleotide variant	NM_024570.4(RNASEH2B):c.659T>C (p.Ile220Thr)	Aicardi-Goutieres syndrome 2 [RCV000823496]\|Inborn genetic diseases [RCV004958178]\|not provided [RCV004800607]	likely pathogenic\|uncertain significance	13	50948029	50948029	Human	2	name
14731733	CV642028	single nucleotide variant	NM_024570.4(RNASEH2B):c.782A>T (p.Asp261Val)	Aicardi-Goutieres syndrome 2 [RCV000801538]	uncertain significance	13	50953945	50953945	Human	1	name
15128399	CV693394	single nucleotide variant	NM_024570.4(RNASEH2B):c.895A>G (p.Thr299Ala)	Aicardi-Goutieres syndrome 2 [RCV000875483]	likely benign	13	50956430	50956430	Human	1	name
26919842	CV840979	single nucleotide variant	NM_024570.4(RNASEH2B):c.928G>A (p.Gly310Arg)	Aicardi-Goutieres syndrome 2 [RCV001059384]\|Inborn genetic diseases [RCV004659322]	uncertain significance	13	50956463	50956463	Human	2	name
28884943	CV860064	deletion	NM_024570.4(RNASEH2B):c.37_43del (p.Ala13fs)	not provided [RCV001091631]	likely pathogenic	13	50910110	50910116	Human		name
28884952	CV860065	single nucleotide variant	NM_024570.4(RNASEH2B):c.634G>A (p.Ala212Thr)	not provided [RCV001091632]	likely pathogenic	13	50948004	50948004	Human		name
28911549	CV871404	single nucleotide variant	NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala)	Aicardi-Goutieres syndrome 2 [RCV001110764]\|Inborn genetic diseases [RCV003363110]	uncertain significance	13	50934985	50934985	Human	2	name
28868820	CV871406	single nucleotide variant	NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu)	Aicardi-Goutieres syndrome 2 [RCV001112752]	uncertain significance	13	50948034	50948034	Human	1	name
38494726	CV926942	single nucleotide variant	NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp)	Aicardi-Goutieres syndrome 2 [RCV001225184]	uncertain significance	13	50948011	50948011	Human	1	name
38456736	CV948407	single nucleotide variant	NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu)	Aicardi-Goutieres syndrome 2 [RCV001228408]	uncertain significance	13	50934906	50934906	Human	1	name
38495201	CV957119	single nucleotide variant	NM_024570.4(RNASEH2B):c.697A>C (p.Lys233Gln)	Aicardi-Goutieres syndrome 2 [RCV001241791]	uncertain significance	13	50948067	50948067	Human	1	name
126763172	CV995640	single nucleotide variant	NM_024570.4(RNASEH2B):c.904G>A (p.Gly302Arg)	Aicardi-Goutieres syndrome 2 [RCV001300593]\|Inborn genetic diseases [RCV004960710]	uncertain significance	13	50956439	50956439	Human	2	name
126734216	CV995638	microsatellite	NM_024570.4(RNASEH2B):c.86AGA[1] (p.Lys30del)	Aicardi-Goutieres syndrome 2 [RCV001304400]	uncertain significance	13	50927427	50927429	Human		name
156418328	CV1910957	indel	NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA	Aicardi-Goutieres syndrome 2 [RCV002611510]	uncertain significance	13	50945405	50945407	Human		name
151887134	CV1471899	duplication	NM_024570.4(RNASEH2B):c.924_925dup (p.Ile309fs)	Aicardi-Goutieres syndrome 2 [RCV002000822]	uncertain significance	13	50956450	50956451	Human	1	name
151728360	CV1515709	deletion	NM_024570.4(RNASEH2B):c.915_918del (p.Asn305fs)	Aicardi-Goutieres syndrome 2 [RCV001983941]	uncertain significance	13	50956447	50956450	Human	1	name
155796429	CV1861847	deletion	NM_024570.4(RNASEH2B):c.816_817del (p.Glu273fs)	not specified [RCV002470129]	uncertain significance	13	50953979	50953980	Human		name
155992988	CV2281270	single nucleotide variant	NM_001142279.2(RNASEH2B):c.770A>G (p.Lys257Arg)	Inborn genetic diseases [RCV002882598]	uncertain significance	13	50969960	50969960	Human	1	name
13813513	CV568619	deletion	NM_024570.4(RNASEH2B):c.105_107del (p.Met36del)	Aicardi-Goutieres syndrome 2 [RCV000704411]	uncertain significance	13	50927446	50927448	Human	1	name
41406558	CV980473	single nucleotide variant	NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp)	Aicardi-Goutieres syndrome 2 [RCV001280978]	uncertain significance	13	50969957	50969957	Human	1	name
151840783	CV1464163	deletion	NM_024570.4(RNASEH2B):c.-2_4del (p.Met1_Ala2del)	Aicardi-Goutieres syndrome 2 [RCV001936085]	uncertain significance	13	50910074	50910079	Human		name
597945746	CV3786980	insertion	NM_024570.4(RNASEH2B):c.820_821insCA (p.Lys274fs)	Aicardi-Goutieres syndrome 2 [RCV005119800]	uncertain significance	13	50953982	50953983	Human	1	name
597686200	CV3714395	indel	NM_024570.4(RNASEH2B):c.-5_4delinsACC (p.Met1_Ala2del)	Aicardi-Goutieres syndrome 2 [RCV005006908]	likely pathogenic	13	50910072	50910080	Human		name
14720298	CV642026	indel	NM_024570.4(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn)	Aicardi-Goutieres syndrome 2 [RCV000796570]	uncertain significance	13	50947988	50947989	Human		name

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