Samhd1 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

894 records found for search term Samhd1

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8557879	CV19107	single nucleotide variant	SAMHD1, IVS14AS, G-C, -1	Aicardi Goutieres syndrome 5 [RCV000004283]	pathogenic				Human		name
11619801	CV335360	single nucleotide variant	NM_015474.4(SAMHD1):c.*95T>C	Aicardi-Goutieres syndrome 5 [RCV000388878]\|Chilblain lupus 2 [RCV000329727]	benign\|likely benign\|uncertain significance	20	36892837	36892837	Human	2	name
11613032	CV335374	single nucleotide variant	NM_015474.4(SAMHD1):c.-39C>A	Aicardi-Goutieres syndrome 5 [RCV000264603]\|Chilblain lupus 2 [RCV000377803]	benign\|likely benign\|uncertain significance	20	36951682	36951682	Human	2	name
11628320	CV345203	single nucleotide variant	NM_015474.4(SAMHD1):c.-10A>G	Aicardi-Goutieres syndrome 5 [RCV000353921]\|Chilblain lupus 2 [RCV000299096]\|not provided [RCV000788174]\|not specified [RCV005055902]	benign\|uncertain significance	20	36951653	36951653	Human	2	name
11626402	CV345205	single nucleotide variant	NM_015474.4(SAMHD1):c.-31T>C	Aicardi-Goutieres syndrome 5 [RCV000263426]\|Chilblain lupus 2 [RCV000318637]	benign\|likely benign\|uncertain significance	20	36951674	36951674	Human	2	name
11628041	CV349937	single nucleotide variant	NM_015474.4(SAMHD1):c.*71C>A	Aicardi-Goutieres syndrome 5 [RCV000335485]\|Chilblain lupus 2 [RCV000294485]\|not provided [RCV004717377]\|not specified [RCV001731616]	benign\|likely benign	20	36892861	36892861	Human	2	name
11629937	CV350947	single nucleotide variant	NM_015474.4(SAMHD1):c.*45C>T	Aicardi-Goutieres syndrome 5 [RCV000393843]\|Chilblain lupus 2 [RCV000337161]	benign\|likely benign	20	36892887	36892887	Human	2	name
11658760	CV335358	single nucleotide variant	NM_015474.4(SAMHD1):c.*711A>C	Aicardi-Goutieres syndrome 5 [RCV000392173]\|Chilblain lupus 2 [RCV000351506]	uncertain significance	20	36892221	36892221	Human	2	name
11616302	CV335359	single nucleotide variant	NM_015474.4(SAMHD1):c.*240G>A	Aicardi-Goutieres syndrome 5 [RCV000383368]\|Chilblain lupus 2 [RCV000293495]	benign\|uncertain significance	20	36892692	36892692	Human	2	name
11619348	CV335378	single nucleotide variant	NM_015474.3(SAMHD1):c.-110T>C	Aicardi-Goutieres syndrome 5 [RCV000379094]\|Chilblain lupus 2 [RCV000324577]\|not provided [RCV004717378]	benign\|likely benign	20	36951753	36951753	Human	2	name
11655115	CV345199	single nucleotide variant	NM_015474.4(SAMHD1):c.*362G>A	Aicardi-Goutieres syndrome 5 [RCV000323445]\|Chilblain lupus 2 [RCV000364067]	uncertain significance	20	36892570	36892570	Human	2	name
11652175	CV349932	single nucleotide variant	NM_015474.4(SAMHD1):c.*536C>T	Aicardi-Goutieres syndrome 5 [RCV000405283]\|Chilblain lupus 2 [RCV000303345]	uncertain significance	20	36892396	36892396	Human	2	name
11626667	CV349936	single nucleotide variant	NM_015474.4(SAMHD1):c.*503A>G	Aicardi-Goutieres syndrome 5 [RCV000268226]\|Chilblain lupus 2 [RCV000358313]	uncertain significance	20	36892429	36892429	Human	2	name
11628277	CV350941	single nucleotide variant	NM_015474.4(SAMHD1):c.*629C>T	Aicardi-Goutieres syndrome 5 [RCV000297560]\|Chilblain lupus 2 [RCV000357040]\|not provided [RCV004717376]	benign	20	36892303	36892303	Human	2	name
11626749	CV350942	single nucleotide variant	NM_015474.4(SAMHD1):c.*288A>G	Aicardi-Goutieres syndrome 5 [RCV000328748]\|Chilblain lupus 2 [RCV000268954]	benign\|likely benign	20	36892644	36892644	Human	2	name
11627849	CV350958	single nucleotide variant	NM_015474.3(SAMHD1):c.-166G>T	Aicardi-Goutieres syndrome 5 [RCV000289410]\|Chilblain lupus 2 [RCV000344434]\|not provided [RCV004703821]	benign\|likely benign	20	36951809	36951809	Human	2	name
28896081	CV886058	single nucleotide variant	NM_015474.4(SAMHD1):c.*882T>C	Aicardi-Goutieres syndrome 5 [RCV001141116]\|Chilblain lupus 2 [RCV001141117]	uncertain significance	20	36892050	36892050	Human	2	name
28896084	CV886059	single nucleotide variant	NM_015474.4(SAMHD1):c.*871G>A	Aicardi-Goutieres syndrome 5 [RCV001141118]\|Chilblain lupus 2 [RCV001141119]	uncertain significance	20	36892061	36892061	Human	2	name
28896087	CV886060	single nucleotide variant	NM_015474.4(SAMHD1):c.*717G>C	Aicardi-Goutieres syndrome 5 [RCV001141121]\|Chilblain lupus 2 [RCV001141120]	uncertain significance	20	36892215	36892215	Human	2	name
28900920	CV886061	single nucleotide variant	NM_015474.4(SAMHD1):c.*648C>T	Aicardi-Goutieres syndrome 5 [RCV001142968]\|Chilblain lupus 2 [RCV001142969]	uncertain significance	20	36892284	36892284	Human	2	name
28900922	CV886062	single nucleotide variant	NM_015474.4(SAMHD1):c.*505T>A	Aicardi-Goutieres syndrome 5 [RCV001142971]\|Chilblain lupus 2 [RCV001142970]	uncertain significance	20	36892427	36892427	Human	2	name
28889271	CV886063	single nucleotide variant	NM_015474.4(SAMHD1):c.*120C>T	Aicardi-Goutieres syndrome 5 [RCV001138653]\|Chilblain lupus 2 [RCV001138652]	benign\|likely benign	20	36892812	36892812	Human	2	name
28889275	CV886064	single nucleotide variant	NM_015474.4(SAMHD1):c.*104G>C	Aicardi-Goutieres syndrome 5 [RCV001138654]\|Chilblain lupus 2 [RCV001138655]	uncertain significance	20	36892828	36892828	Human	2	name
127249325	CV1056609	single nucleotide variant	NM_015474.4(SAMHD1):c.953+1G>A	Aicardi-Goutieres syndrome 5 [RCV001378132]	likely pathogenic	20	36916948	36916948	Human	1	name
127248706	CV1056610	single nucleotide variant	NM_015474.4(SAMHD1):c.509+1G>A	Aicardi Goutieres syndrome [RCV001831349]\|Aicardi-Goutieres syndrome 5 [RCV001378011]	likely pathogenic	20	36935028	36935028	Human	2	name
127254075	CV1085323	single nucleotide variant	NM_015474.4(SAMHD1):c.510-7T>C	Aicardi-Goutieres syndrome 5 [RCV001418488]	likely benign	20	36930882	36930882	Human	1	name
127277291	CV1107027	single nucleotide variant	NM_015474.4(SAMHD1):c.348+7G>C	Aicardi-Goutieres syndrome 5 [RCV001444286]	likely benign	20	36941032	36941032	Human	1	name
127233567	CV1107030	single nucleotide variant	NM_015474.4(SAMHD1):c.275+9G>A	Aicardi-Goutieres syndrome 5 [RCV001421803]	likely benign	20	36946729	36946729	Human	1	name
127267943	CV1107031	single nucleotide variant	NM_015474.4(SAMHD1):c.209-4A>G	Aicardi-Goutieres syndrome 5 [RCV001440654]\|Inborn genetic diseases [RCV002555574]	likely benign	20	36946808	36946808	Human	2	name
127327466	CV1149431	single nucleotide variant	NM_015474.4(SAMHD1):c.509+8G>A	Aicardi-Goutieres syndrome 5 [RCV001486367]	likely benign	20	36935021	36935021	Human	1	name
127285987	CV1149432	single nucleotide variant	NM_015474.4(SAMHD1):c.348+9A>T	Aicardi-Goutieres syndrome 5 [RCV001493954]	likely benign	20	36941030	36941030	Human	1	name
127304949	CV1149433	single nucleotide variant	NM_015474.4(SAMHD1):c.348+7G>A	Aicardi-Goutieres syndrome 5 [RCV001479670]	likely benign	20	36941032	36941032	Human	1	name
127308604	CV1149435	single nucleotide variant	NM_015474.4(SAMHD1):c.275+9G>C	Aicardi-Goutieres syndrome 5 [RCV001480655]	likely benign	20	36946729	36946729	Human	1	name
150439672	CV1274893	single nucleotide variant	NM_015474.4(SAMHD1):c.626-5T>C	Aicardi-Goutieres syndrome 5 [RCV001868393]\|not provided [RCV001703375]	likely benign\|uncertain significance	20	36927257	36927257	Human	1	name
151842189	CV1357621	single nucleotide variant	NM_015474.4(SAMHD1):c.852+6T>C	Aicardi-Goutieres syndrome 5 [RCV001881488]	uncertain significance	20	36919358	36919358	Human	1	name
151828837	CV1400734	single nucleotide variant	NM_015474.4(SAMHD1):c.852+1G>T	Aicardi-Goutieres syndrome 5 [RCV001976447]	likely pathogenic	20	36919363	36919363	Human	1	name
151821214	CV1408628	single nucleotide variant	NM_015474.4(SAMHD1):c.626-1G>C	Aicardi-Goutieres syndrome 5 [RCV002013399]\|Aicardi-Goutieres syndrome 5 [RCV005025623]\|not provided [RCV003886546]	pathogenic\|likely pathogenic	20	36927253	36927253	Human	1	name
151831239	CV1426595	single nucleotide variant	NM_015474.4(SAMHD1):c.349-2A>T	Aicardi-Goutieres syndrome 5 [RCV001976673]	likely pathogenic	20	36935191	36935191	Human	1	name
151755334	CV1433860	single nucleotide variant	NM_015474.4(SAMHD1):c.208+4G>A	Aicardi-Goutieres syndrome 5 [RCV002043696]	uncertain significance	20	36951432	36951432	Human	1	name
151849172	CV1442018	single nucleotide variant	NM_015474.4(SAMHD1):c.349-1G>A	Aicardi-Goutieres syndrome 5 [RCV001995733]	likely pathogenic	20	36935190	36935190	Human	1	name
151794658	CV1448731	single nucleotide variant	NM_015474.4(SAMHD1):c.697-1G>T	Aicardi-Goutieres syndrome 5 [RCV001990395]	likely pathogenic	20	36919520	36919520	Human	1	name
152141218	CV1520560	single nucleotide variant	NM_015474.4(SAMHD1):c.953+7A>C	Aicardi-Goutieres syndrome 5 [RCV002178082]	likely benign	20	36916942	36916942	Human	1	name
152134007	CV1598663	single nucleotide variant	NM_015474.4(SAMHD1):c.697-5C>T	Aicardi-Goutieres syndrome 5 [RCV002177180]	likely benign	20	36919524	36919524	Human	1	name
152118658	CV1602626	single nucleotide variant	NM_015474.4(SAMHD1):c.953+7A>G	Aicardi-Goutieres syndrome 5 [RCV002117549]	likely benign	20	36916942	36916942	Human	1	name
152094034	CV1648801	single nucleotide variant	NM_015474.4(SAMHD1):c.209-7T>C	Aicardi-Goutieres syndrome 5 [RCV002078094]	likely benign	20	36946811	36946811	Human	1	name
152097630	CV1650205	single nucleotide variant	NM_015474.4(SAMHD1):c.625+8G>A	Aicardi-Goutieres syndrome 5 [RCV002114901]	likely benign	20	36930752	36930752	Human	1	name
152119544	CV1654670	single nucleotide variant	NM_015474.4(SAMHD1):c.626-8T>C	Aicardi-Goutieres syndrome 5 [RCV002216592]	likely benign	20	36927260	36927260	Human	1	name
152047931	CV1656804	single nucleotide variant	NM_015474.4(SAMHD1):c.626-9G>C	Aicardi-Goutieres syndrome 5 [RCV002189044]	likely benign	20	36927261	36927261	Human	1	name
156137782	CV2006465	single nucleotide variant	NM_015474.4(SAMHD1):c.697-2A>G	Aicardi-Goutieres syndrome 5 [RCV002663454]	likely pathogenic	20	36919521	36919521	Human	1	name
156271613	CV2035827	single nucleotide variant	NM_015474.4(SAMHD1):c.276-8A>G	Aicardi-Goutieres syndrome 5 [RCV002770063]	likely benign	20	36941119	36941119	Human	1	name
156375245	CV2049380	single nucleotide variant	NM_015474.4(SAMHD1):c.209-9C>G	Aicardi-Goutieres syndrome 5 [RCV002814638]	likely benign	20	36946813	36946813	Human	1	name
156053405	CV2064684	single nucleotide variant	NM_015474.4(SAMHD1):c.275+7A>G	Aicardi-Goutieres syndrome 5 [RCV002846514]	likely benign	20	36946731	36946731	Human	1	name
156131822	CV2169198	single nucleotide variant	NM_015474.4(SAMHD1):c.509+9G>A	Aicardi-Goutieres syndrome 5 [RCV003022206]	likely benign	20	36935020	36935020	Human	1	name
401857073	CV2752087	single nucleotide variant	NM_015474.4(SAMHD1):c.625+2T>C	SAMHD1-related disorder [RCV003335964]	likely pathogenic	20	36930758	36930758	Human		name , trait , alternate_id
402467167	CV2865720	single nucleotide variant	NM_015474.4(SAMHD1):c.696+7A>G	Aicardi-Goutieres syndrome 5 [RCV003503475]	likely benign	20	36927175	36927175	Human	1	name
405049110	CV2979280	single nucleotide variant	NM_015474.4(SAMHD1):c.696+2T>C	Aicardi-Goutieres syndrome 5 [RCV003610377]	likely pathogenic	20	36927180	36927180	Human	1	name
405047280	CV2987346	single nucleotide variant	NM_015474.4(SAMHD1):c.276-9T>C	Aicardi-Goutieres syndrome 5 [RCV003610240]	likely benign	20	36941120	36941120	Human	1	name
405028976	CV2991791	single nucleotide variant	NM_015474.4(SAMHD1):c.853-1G>C	Aicardi-Goutieres syndrome 5 [RCV003608672]	likely pathogenic	20	36917050	36917050	Human	1	name
405142239	CV3155400	single nucleotide variant	NM_015474.4(SAMHD1):c.852+1G>A	Aicardi-Goutieres syndrome 5 [RCV003855638]	likely pathogenic	20	36919363	36919363	Human	1	name
405269364	CV3187330	single nucleotide variant	NM_015474.4(SAMHD1):c.853-2A>G	not provided [RCV003887414]	pathogenic	20	36917051	36917051	Human		name
11616667	CV335338	single nucleotide variant	NM_015474.4(SAMHD1):c.*1008C>G	Aicardi-Goutieres syndrome 5 [RCV000392184]\|Chilblain lupus 2 [RCV000296577]	benign\|likely benign	20	36891924	36891924	Human	2	name
597965390	CV3751134	deletion	NM_015474.4(SAMHD1):c.209-9del	Aicardi-Goutieres syndrome 5 [RCV005082696]	likely benign	20	36946813	36946813	Human	1	name
597936054	CV3858959	single nucleotide variant	NM_015474.4(SAMHD1):c.509+4A>G	Aicardi-Goutieres syndrome 5 [RCV005207680]	uncertain significance	20	36935025	36935025	Human	1	name
15154543	CV731341	single nucleotide variant	NM_015474.4(SAMHD1):c.208+8C>T	Aicardi Goutieres syndrome [RCV001273107]\|Aicardi-Goutieres syndrome 5 [RCV000880236]\|SAMHD1-related disorder [RCV004740482]\|not specified [RCV004997461]	benign\|likely benign\|uncertain significance	20	36951428	36951428	Human	3	name , trait , alternate_id
15114548	CV780209	single nucleotide variant	NM_015474.4(SAMHD1):c.275+8T>A	Aicardi Goutieres syndrome [RCV001273106]\|Aicardi-Goutieres syndrome 5 [RCV000961696]\|not specified [RCV005408107]	benign\|likely benign\|uncertain significance	20	36946730	36946730	Human	2	name
21069765	CV789389	single nucleotide variant	NM_015474.4(SAMHD1):c.625+1G>A	Aicardi-Goutieres syndrome 5 [RCV000985138]	likely pathogenic	20	36930759	36930759	Human	1	name
26887282	CV851849	single nucleotide variant	NM_015474.4(SAMHD1):c.349-5T>C	Aicardi-Goutieres syndrome 5 [RCV001066582]	likely benign\|uncertain significance	20	36935194	36935194	Human	1	name
38469290	CV940508	single nucleotide variant	NM_015474.4(SAMHD1):c.696+5G>A	Aicardi Goutieres syndrome [RCV001833867]\|Aicardi-Goutieres syndrome 5 [RCV001213297]	uncertain significance	20	36927177	36927177	Human	2	name
126735467	CV1021987	single nucleotide variant	NM_015474.4(SAMHD1):c.1609-1G>T	Aicardi-Goutieres syndrome 5 [RCV001334862]	pathogenic	20	36897960	36897960	Human	1	name
127256198	CV1085315	duplication	NM_015474.4(SAMHD1):c.1410+6dup	Aicardi-Goutieres syndrome 5 [RCV001419000]	likely benign	20	36905356	36905357	Human	1	name
127232304	CV1085317	single nucleotide variant	NM_015474.4(SAMHD1):c.1063-4G>T	Aicardi-Goutieres syndrome 5 [RCV001413388]	likely benign	20	36912556	36912556	Human	1	name
127245936	CV1085328	single nucleotide variant	NM_015474.4(SAMHD1):c.349-18T>C	Aicardi-Goutieres syndrome 5 [RCV001416623]	likely benign	20	36935207	36935207	Human	1	name
127272758	CV1085330	single nucleotide variant	NM_015474.4(SAMHD1):c.209-10T>C	Aicardi-Goutieres syndrome 5 [RCV001405796]	likely benign	20	36946814	36946814	Human	1	name
127278579	CV1107020	single nucleotide variant	NM_015474.4(SAMHD1):c.1608+7A>C	Aicardi-Goutieres syndrome 5 [RCV001445155]	likely benign	20	36898433	36898433	Human	1	name
127300588	CV1128454	single nucleotide variant	NM_015474.4(SAMHD1):c.1063-6C>T	Aicardi-Goutieres syndrome 5 [RCV001453933]	likely benign	20	36912558	36912558	Human	1	name
127303837	CV1128455	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+7T>C	Aicardi-Goutieres syndrome 5 [RCV001462025]	likely benign	20	36916715	36916715	Human	1	name
150479943	CV1221872	single nucleotide variant	NM_015474.4(SAMHD1):c.349-32G>A	not provided [RCV001616668]	benign	20	36935221	36935221	Human		name
150501678	CV1238462	single nucleotide variant	NM_015474.4(SAMHD1):c.510-74T>G	not provided [RCV001656892]\|not specified [RCV003401556]	benign	20	36930949	36930949	Human		name
150535450	CV1311893	deletion	NM_015474.4(SAMHD1):c.626-63del	not provided [RCV001779703]	likely benign	20	36927315	36927315	Human		name
8654429	CV131940	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-2A>G	Aicardi-Goutieres syndrome 5 [RCV000114348]\|Aicardi-Goutieres syndrome 5 [RCV005031599]\|SAMHD1-related disorder [RCV004739368]\|not provided [RCV003137627]	pathogenic	20	36904251	36904251	Human	2	name , trait , alternate_id
8654430	CV131941	single nucleotide variant	NM_015474.4(SAMHD1):c.1503+1G>T	Aicardi-Goutieres syndrome 5 [RCV000114349]	pathogenic\|not provided	20	36904156	36904156	Human	1	name
8654431	CV131942	single nucleotide variant	NM_015474.4(SAMHD1):c.1609-1G>C	Aicardi-Goutieres syndrome 5 [RCV000114350]	pathogenic\|uncertain significance	20	36897960	36897960	Human	1	name
151762995	CV1339074	single nucleotide variant	NM_015474.4(SAMHD1):c.1608+1G>A	Aicardi-Goutieres syndrome 5 [RCV002008088]	likely pathogenic	20	36898439	36898439	Human	1	name
151830892	CV1358956	single nucleotide variant	NM_015474.4(SAMHD1):c.1608+6T>A	Aicardi-Goutieres syndrome 5 [RCV001993703]	uncertain significance	20	36898434	36898434	Human	1	name
151746892	CV1364664	single nucleotide variant	NM_015474.4(SAMHD1):c.1609-2A>G	Aicardi-Goutieres syndrome 5 [RCV001985834]	likely pathogenic	20	36897961	36897961	Human	1	name
151781105	CV1369597	single nucleotide variant	NM_015474.4(SAMHD1):c.1155-7T>G	Aicardi-Goutieres syndrome 5 [RCV001930449]	uncertain significance	20	36911340	36911340	Human	1	name
151751309	CV1457315	single nucleotide variant	NM_015474.4(SAMHD1):c.510-17G>A	Aicardi-Goutieres syndrome 5 [RCV001913013]	likely benign	20	36930892	36930892	Human	1	name
152083560	CV1526384	single nucleotide variant	NM_015474.4(SAMHD1):c.208+12G>C	Aicardi-Goutieres syndrome 5 [RCV002170862]	likely benign	20	36951424	36951424	Human	1	name
152169564	CV1529260	deletion	NM_015474.4(SAMHD1):c.510-18del	Aicardi-Goutieres syndrome 5 [RCV002161486]	benign	20	36930893	36930893	Human	1	name
152098908	CV1531023	single nucleotide variant	NM_015474.4(SAMHD1):c.1270+7A>T	Aicardi-Goutieres syndrome 5 [RCV002133004]	likely benign	20	36911211	36911211	Human	1	name
152063667	CV1542529	single nucleotide variant	NM_015474.4(SAMHD1):c.348+19G>A	Aicardi-Goutieres syndrome 5 [RCV002209016]	likely benign	20	36941020	36941020	Human	1	name
152072867	CV1556473	single nucleotide variant	NM_015474.4(SAMHD1):c.348+18T>G	Aicardi-Goutieres syndrome 5 [RCV002111696]\|not provided [RCV004717875]	benign	20	36941021	36941021	Human	1	name
152176064	CV1562242	single nucleotide variant	NM_015474.4(SAMHD1):c.510-20T>G	Aicardi-Goutieres syndrome 5 [RCV002164204]	likely benign	20	36930895	36930895	Human	1	name
152070921	CV1581340	single nucleotide variant	NM_015474.4(SAMHD1):c.275+15A>C	Aicardi-Goutieres syndrome 5 [RCV002091576]	likely benign	20	36946723	36946723	Human	1	name
152173458	CV1590073	single nucleotide variant	NM_015474.4(SAMHD1):c.510-13T>G	Aicardi-Goutieres syndrome 5 [RCV002184182]	likely benign	20	36930888	36930888	Human	1	name
152092753	CV1593197	single nucleotide variant	NM_015474.4(SAMHD1):c.208+16G>A	Aicardi-Goutieres syndrome 5 [RCV002094413]	likely benign	20	36951420	36951420	Human	1	name
152070179	CV1601047	single nucleotide variant	NM_015474.4(SAMHD1):c.697-13T>C	Aicardi-Goutieres syndrome 5 [RCV002091477]	likely benign	20	36919532	36919532	Human	1	name
152087556	CV1608552	single nucleotide variant	NM_015474.4(SAMHD1):c.1608+9T>C	Aicardi-Goutieres syndrome 5 [RCV002212258]	likely benign	20	36898431	36898431	Human	1	name
152122506	CV1613554	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-7T>C	Aicardi-Goutieres syndrome 5 [RCV002081748]	likely benign	20	36904256	36904256	Human	1	name
152073736	CV1615501	single nucleotide variant	NM_015474.4(SAMHD1):c.696+14C>T	Aicardi-Goutieres syndrome 5 [RCV002091940]	likely benign	20	36927168	36927168	Human	1	name
152074459	CV1620400	single nucleotide variant	NM_015474.4(SAMHD1):c.510-17G>T	Aicardi-Goutieres syndrome 5 [RCV002111906]	likely benign	20	36930892	36930892	Human	1	name
152176228	CV1628554	duplication	NM_015474.4(SAMHD1):c.1410+8dup	Aicardi-Goutieres syndrome 5 [RCV002164370]	likely benign	20	36905355	36905356	Human	1	name
152028163	CV1642677	single nucleotide variant	NM_015474.4(SAMHD1):c.208+12G>A	Aicardi-Goutieres syndrome 5 [RCV002185744]	likely benign	20	36951424	36951424	Human	1	name
152101429	CV1645804	single nucleotide variant	NM_015474.4(SAMHD1):c.348+14A>C	Aicardi-Goutieres syndrome 5 [RCV002173155]	likely benign	20	36941025	36941025	Human	1	name
152101474	CV1645822	single nucleotide variant	NM_015474.4(SAMHD1):c.348+17T>G	Aicardi-Goutieres syndrome 5 [RCV002173162]	likely benign	20	36941022	36941022	Human	1	name
152098936	CV1650430	single nucleotide variant	NM_015474.4(SAMHD1):c.276-20T>C	Aicardi-Goutieres syndrome 5 [RCV002115070]	likely benign	20	36941131	36941131	Human	1	name
152116393	CV1653813	single nucleotide variant	NM_015474.4(SAMHD1):c.509+10G>A	Aicardi-Goutieres syndrome 5 [RCV002153708]	likely benign	20	36935019	36935019	Human	1	name
155267898	CV1705198	duplication	NM_015474.4(SAMHD1):c.626-63dup	not provided [RCV002285803]	likely benign	20	36927314	36927315	Human		name
156381834	CV1873745	single nucleotide variant	NM_015474.4(SAMHD1):c.276-12T>C	Aicardi-Goutieres syndrome 5 [RCV003067232]	likely benign	20	36941123	36941123	Human	1	name
156150038	CV1878905	single nucleotide variant	NM_015474.4(SAMHD1):c.1746+9C>A	Aicardi-Goutieres syndrome 5 [RCV003056497]	likely benign	20	36897813	36897813	Human	1	name
156340316	CV1902649	single nucleotide variant	NM_015474.4(SAMHD1):c.625+19C>T	Aicardi-Goutieres syndrome 5 [RCV003090325]	likely benign	20	36930741	36930741	Human	1	name
156154844	CV1931334	single nucleotide variant	NM_015474.4(SAMHD1):c.1271-3C>T	Aicardi-Goutieres syndrome 5 [RCV002664027]	uncertain significance	20	36905506	36905506	Human	1	name
156447338	CV1944982	single nucleotide variant	NM_015474.4(SAMHD1):c.276-11T>G	Aicardi-Goutieres syndrome 5 [RCV003118865]	likely benign	20	36941122	36941122	Human	1	name
156008654	CV1989546	single nucleotide variant	NM_015474.4(SAMHD1):c.953+12A>G	Aicardi-Goutieres syndrome 5 [RCV002636107]	likely benign	20	36916937	36916937	Human	1	name
156169289	CV1993606	single nucleotide variant	NM_015474.4(SAMHD1):c.276-15C>G	Aicardi-Goutieres syndrome 5 [RCV002642671]	likely benign	20	36941126	36941126	Human	1	name
156018509	CV2020573	single nucleotide variant	NM_015474.4(SAMHD1):c.1608+8C>G	Aicardi-Goutieres syndrome 5 [RCV002735261]	likely benign	20	36898432	36898432	Human	1	name
156014584	CV2038613	single nucleotide variant	NM_015474.4(SAMHD1):c.1746+4G>A	Aicardi-Goutieres syndrome 5 [RCV002780329]	uncertain significance	20	36897818	36897818	Human	1	name
156021496	CV2043190	single nucleotide variant	NM_015474.4(SAMHD1):c.1503+9T>A	Aicardi-Goutieres syndrome 5 [RCV002780672]	likely benign	20	36904148	36904148	Human	1	name
155924898	CV2044985	single nucleotide variant	NM_015474.4(SAMHD1):c.349-14A>T	Aicardi-Goutieres syndrome 5 [RCV002750884]	likely benign	20	36935203	36935203	Human	1	name
155997330	CV2045329	single nucleotide variant	NM_015474.4(SAMHD1):c.626-15G>A	Aicardi-Goutieres syndrome 5 [RCV002756027]	likely benign	20	36927267	36927267	Human	1	name
156057029	CV2050644	single nucleotide variant	NM_015474.4(SAMHD1):c.1154+4A>T	Aicardi-Goutieres syndrome 5 [RCV002796962]	uncertain significance	20	36912457	36912457	Human	1	name
156003648	CV2057610	single nucleotide variant	NM_015474.4(SAMHD1):c.276-16C>T	Aicardi-Goutieres syndrome 5 [RCV002819774]	likely benign	20	36941127	36941127	Human	1	name
156105669	CV2061201	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+4A>C	Aicardi-Goutieres syndrome 5 [RCV002824719]	uncertain significance	20	36905360	36905360	Human	1	name
156294480	CV2065235	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+8G>A	Aicardi-Goutieres syndrome 5 [RCV002856883]	likely benign	20	36916714	36916714	Human	1	name
156014050	CV2072070	single nucleotide variant	NM_015474.4(SAMHD1):c.1746+7G>A	Aicardi-Goutieres syndrome 5 [RCV002844034]	likely benign	20	36897815	36897815	Human	1	name
156304503	CV2079702	single nucleotide variant	NM_015474.4(SAMHD1):c.509+11A>G	Aicardi-Goutieres syndrome 5 [RCV002857339]	likely benign	20	36935018	36935018	Human	1	name
156142058	CV2090700	single nucleotide variant	NM_015474.4(SAMHD1):c.852+16G>A	Aicardi-Goutieres syndrome 5 [RCV002890344]	likely benign	20	36919348	36919348	Human	1	name
156128752	CV2104348	single nucleotide variant	NM_015474.4(SAMHD1):c.1271-1G>C	Aicardi-Goutieres syndrome 5 [RCV002914469]	likely pathogenic	20	36905504	36905504	Human	1	name
156139221	CV2116524	single nucleotide variant	NM_015474.4(SAMHD1):c.1271-2A>C	Aicardi-Goutieres syndrome 5 [RCV002914843]	likely pathogenic	20	36905505	36905505	Human	1	name
155906090	CV2148112	deletion	NM_015474.4(SAMHD1):c.1609-2del	Aicardi-Goutieres syndrome 5 [RCV003011931]	benign	20	36897961	36897961	Human	1	name
156075833	CV2165575	single nucleotide variant	NM_015474.4(SAMHD1):c.852+14C>T	Aicardi-Goutieres syndrome 5 [RCV003037715]	likely benign	20	36919350	36919350	Human	1	name
156332900	CV2181803	single nucleotide variant	NM_015474.4(SAMHD1):c.1503+3A>C	Aicardi-Goutieres syndrome 5 [RCV003047321]	uncertain significance	20	36904154	36904154	Human	1	name
402464484	CV2853770	single nucleotide variant	NM_015474.4(SAMHD1):c.510-14T>C	Aicardi-Goutieres syndrome 5 [RCV003502777]	likely benign	20	36930889	36930889	Human	1	name
402464555	CV2860470	single nucleotide variant	NM_015474.4(SAMHD1):c.852+11G>A	Aicardi-Goutieres syndrome 5 [RCV003502796]	likely benign	20	36919353	36919353	Human	1	name
402464734	CV2864488	single nucleotide variant	NM_015474.4(SAMHD1):c.625+17G>A	Aicardi-Goutieres syndrome 5 [RCV003502828]	likely benign	20	36930743	36930743	Human	1	name
402467510	CV2866786	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-5T>C	Aicardi-Goutieres syndrome 5 [RCV003503565]	likely benign	20	36904254	36904254	Human	1	name
402468794	CV2873394	single nucleotide variant	NM_015474.4(SAMHD1):c.348+13G>A	Aicardi-Goutieres syndrome 5 [RCV003503944]	likely benign	20	36941026	36941026	Human	1	name
402470359	CV2892085	single nucleotide variant	NM_015474.4(SAMHD1):c.852+15A>C	Aicardi-Goutieres syndrome 5 [RCV003504194]	likely benign	20	36919349	36919349	Human	1	name
402469888	CV2892229	single nucleotide variant	NM_015474.4(SAMHD1):c.697-20A>G	Aicardi-Goutieres syndrome 5 [RCV003504244]	likely benign	20	36919539	36919539	Human	1	name
405132176	CV2906868	single nucleotide variant	NM_015474.4(SAMHD1):c.625+10A>T	Aicardi-Goutieres syndrome 5 [RCV003502258]	likely benign	20	36930750	36930750	Human	1	name
405132241	CV2907051	single nucleotide variant	NM_015474.4(SAMHD1):c.509+14G>A	Aicardi-Goutieres syndrome 5 [RCV003502264]	likely benign	20	36935015	36935015	Human	1	name
405134463	CV2908641	single nucleotide variant	NM_015474.4(SAMHD1):c.625+11C>T	Aicardi-Goutieres syndrome 5 [RCV003502493]	likely benign	20	36930749	36930749	Human	1	name
402466496	CV2918287	single nucleotide variant	NM_015474.4(SAMHD1):c.1746+8G>A	Aicardi-Goutieres syndrome 5 [RCV003503219]	likely benign	20	36897814	36897814	Human	1	name
402465491	CV2920015	single nucleotide variant	NM_015474.4(SAMHD1):c.510-10T>G	Aicardi-Goutieres syndrome 5 [RCV003503021]	likely benign	20	36930885	36930885	Human	1	name
405036231	CV2946571	single nucleotide variant	NM_015474.4(SAMHD1):c.625+12A>G	Aicardi-Goutieres syndrome 5 [RCV003609337]	likely benign	20	36930748	36930748	Human	1	name
405038723	CV2950851	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+1G>A	Aicardi-Goutieres syndrome 5 [RCV003609556]	likely pathogenic	20	36905363	36905363	Human	1	name
405044776	CV2964248	single nucleotide variant	NM_015474.4(SAMHD1):c.509+17G>C	Aicardi-Goutieres syndrome 5 [RCV003610075]	likely benign	20	36935012	36935012	Human	1	name
405044313	CV2970994	single nucleotide variant	NM_015474.4(SAMHD1):c.209-17T>C	Aicardi-Goutieres syndrome 5 [RCV003610042]	likely benign	20	36946821	36946821	Human	1	name
405046732	CV2976672	single nucleotide variant	NM_015474.4(SAMHD1):c.1747-8C>G	Aicardi-Goutieres syndrome 5 [RCV003610220]	likely benign	20	36893074	36893074	Human	1	name
405049859	CV2980109	single nucleotide variant	NM_015474.4(SAMHD1):c.209-18G>A	Aicardi-Goutieres syndrome 5 [RCV003610433]	likely benign	20	36946822	36946822	Human	1	name
405048990	CV2982652	single nucleotide variant	NM_015474.4(SAMHD1):c.954-17T>G	Aicardi-Goutieres syndrome 5 [RCV003610367]	likely benign	20	36916847	36916847	Human	1	name
405047874	CV2985500	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+9T>C	Aicardi-Goutieres syndrome 5 [RCV003610310]	likely benign	20	36905355	36905355	Human	1	name
405029422	CV2992616	single nucleotide variant	NM_015474.4(SAMHD1):c.696+10C>A	Aicardi-Goutieres syndrome 5 [RCV003608731]	likely benign	20	36927172	36927172	Human	1	name
405031143	CV2997096	single nucleotide variant	NM_015474.4(SAMHD1):c.1063-7C>T	Aicardi-Goutieres syndrome 5 [RCV003608782]	likely benign	20	36912559	36912559	Human	1	name
405030101	CV3003136	single nucleotide variant	NM_015474.4(SAMHD1):c.208+13G>A	Aicardi-Goutieres syndrome 5 [RCV003608764]	likely benign	20	36951423	36951423	Human	1	name
405032223	CV3004968	single nucleotide variant	NM_015474.4(SAMHD1):c.625+17G>C	Aicardi-Goutieres syndrome 5 [RCV003608855]	likely benign	20	36930743	36930743	Human	1	name
405034157	CV3023183	single nucleotide variant	NM_015474.4(SAMHD1):c.953+19T>G	Aicardi-Goutieres syndrome 5 [RCV003609126]	likely benign	20	36916930	36916930	Human	1	name
405053368	CV3043406	single nucleotide variant	NM_015474.4(SAMHD1):c.276-13A>G	Aicardi-Goutieres syndrome 5 [RCV003610734]	likely benign	20	36941124	36941124	Human	1	name
405054373	CV3051757	single nucleotide variant	NM_015474.4(SAMHD1):c.1155-8A>C	Aicardi-Goutieres syndrome 5 [RCV003610821]	likely benign	20	36911341	36911341	Human	1	name
405040162	CV3058708	single nucleotide variant	NM_015474.4(SAMHD1):c.349-16A>T	Aicardi-Goutieres syndrome 5 [RCV003609676]	likely benign	20	36935205	36935205	Human	1	name
405043445	CV3076977	single nucleotide variant	NM_015474.4(SAMHD1):c.696+20A>G	Aicardi-Goutieres syndrome 5 [RCV003609922]	likely benign	20	36927162	36927162	Human	1	name
405117976	CV3115949	single nucleotide variant	NM_015474.4(SAMHD1):c.208+16G>T	Aicardi-Goutieres syndrome 5 [RCV003814439]	likely benign	20	36951420	36951420	Human	1	name
405216891	CV3124770	single nucleotide variant	NM_015474.4(SAMHD1):c.696+17T>C	Aicardi-Goutieres syndrome 5 [RCV003824133]	likely benign	20	36927165	36927165	Human	1	name
405205340	CV3144223	single nucleotide variant	NM_015474.4(SAMHD1):c.208+18G>A	Aicardi-Goutieres syndrome 5 [RCV003845013]	likely benign	20	36951418	36951418	Human	1	name
405173384	CV3151885	single nucleotide variant	NM_015474.4(SAMHD1):c.349-11T>C	Aicardi-Goutieres syndrome 5 [RCV003858036]	likely benign	20	36935200	36935200	Human	1	name
402481449	CV3170803	single nucleotide variant	NM_015474.4(SAMHD1):c.852+17C>T	Aicardi-Goutieres syndrome 5 [RCV003876006]	likely benign	20	36919347	36919347	Human	1	name
11629305	CV349944	single nucleotide variant	NM_015474.4(SAMHD1):c.697-11A>G	Aicardi-Goutieres syndrome 5 [RCV000374639]\|Chilblain lupus 2 [RCV000319975]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	36919530	36919530	Human	2	name
597910329	CV3749611	single nucleotide variant	NM_015474.4(SAMHD1):c.275+16T>C	Aicardi-Goutieres syndrome 5 [RCV005073459]	likely benign	20	36946722	36946722	Human	1	name
597967913	CV3752134	single nucleotide variant	NM_015474.4(SAMHD1):c.1609-4A>C	Aicardi-Goutieres syndrome 5 [RCV005083328]	likely benign	20	36897963	36897963	Human	1	name
597929377	CV3780109	single nucleotide variant	NM_015474.4(SAMHD1):c.276-10G>T	Aicardi-Goutieres syndrome 5 [RCV005116429]	likely benign	20	36941121	36941121	Human	1	name
597909492	CV3781956	single nucleotide variant	NM_015474.4(SAMHD1):c.626-17C>T	Aicardi-Goutieres syndrome 5 [RCV005128448]	likely benign	20	36927269	36927269	Human	1	name
597881017	CV3810325	single nucleotide variant	NM_015474.4(SAMHD1):c.349-13C>T	Aicardi-Goutieres syndrome 5 [RCV005149786]	likely benign	20	36935202	36935202	Human	1	name
597961136	CV3812058	single nucleotide variant	NM_015474.4(SAMHD1):c.954-15T>C	Aicardi-Goutieres syndrome 5 [RCV005163711]	likely benign	20	36916845	36916845	Human	1	name
597932857	CV3844564	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+8A>G	Aicardi-Goutieres syndrome 5 [RCV005186071]	likely benign	20	36905356	36905356	Human	1	name
597903906	CV3856267	single nucleotide variant	NM_015474.4(SAMHD1):c.208+11C>T	Aicardi-Goutieres syndrome 5 [RCV005202495]	likely benign	20	36951425	36951425	Human	1	name
598218372	CV3891655	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+1G>T	Aicardi-Goutieres syndrome 5 [RCV005252497]	pathogenic	20	36916721	36916721	Human	1	name
13476154	CV446231	single nucleotide variant	NM_015474.4(SAMHD1):c.1608+1G>T	not provided [RCV000520074]	uncertain significance	20	36898439	36898439	Human		name
14737445	CV653541	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+5G>T	Aicardi-Goutieres syndrome 5 [RCV000804061]	uncertain significance	20	36905359	36905359	Human	1	name
15177925	CV776656	duplication	NM_015474.4(SAMHD1):c.209-15dup	Aicardi-Goutieres syndrome 5 [RCV001474244]	likely benign	20	36946813	36946814	Human	1	name
15172840	CV776936	single nucleotide variant	NM_015474.4(SAMHD1):c.1154+9C>T	Aicardi-Goutieres syndrome 5 [RCV000928203]	likely benign	20	36912452	36912452	Human	1	name
28888242	CV887458	single nucleotide variant	NM_015474.4(SAMHD1):c.1271-5G>A	Aicardi-Goutieres syndrome 5 [RCV001138331]\|Chilblain lupus 2 [RCV001138332]	uncertain significance	20	36905508	36905508	Human	2	name
127313760	CV1128450	single nucleotide variant	NM_015474.4(SAMHD1):c.1746+10C>T	Aicardi-Goutieres syndrome 5 [RCV001464748]	likely benign	20	36897812	36897812	Human	1	name
150339221	CV1174710	single nucleotide variant	NM_015474.4(SAMHD1):c.276-105C>A	Aicardi-Goutieres syndrome 5 [RCV001543330]\|Chilblain lupus 2 [RCV001543331]\|not provided [RCV001615265]\|not specified [RCV003399345]	benign	20	36941216	36941216	Human	2	name
150339223	CV1174711	single nucleotide variant	NM_015474.4(SAMHD1):c.208+158A>G	Aicardi-Goutieres syndrome 5 [RCV001543332]\|Chilblain lupus 2 [RCV001543333]\|not provided [RCV001647388]	benign	20	36951278	36951278	Human	2	name
150457773	CV1237121	single nucleotide variant	NM_015474.4(SAMHD1):c.852+269G>C	not provided [RCV001648800]	benign	20	36919095	36919095	Human		name
150487101	CV1237278	single nucleotide variant	NM_015474.4(SAMHD1):c.625+249G>T	not provided [RCV001654126]	benign	20	36930511	36930511	Human		name
150494708	CV1256508	single nucleotide variant	NM_015474.4(SAMHD1):c.626-256T>C	not provided [RCV001675473]	benign	20	36927508	36927508	Human		name
150473055	CV1272589	single nucleotide variant	NM_015474.4(SAMHD1):c.626-266G>A	not provided [RCV001695645]	benign	20	36927518	36927518	Human		name
151806276	CV1430043	single nucleotide variant	NM_015474.4(SAMHD1):c.1270+17A>G	Aicardi-Goutieres syndrome 5 [RCV001974364]	likely benign	20	36911201	36911201	Human	1	name
151883561	CV1452403	single nucleotide variant	NM_015474.4(SAMHD1):c.1609-17C>A	Aicardi-Goutieres syndrome 5 [RCV002037366]	likely benign	20	36897976	36897976	Human	1	name
152098904	CV1542497	single nucleotide variant	NM_015474.4(SAMHD1):c.1154+13A>G	Aicardi-Goutieres syndrome 5 [RCV002195282]	likely benign	20	36912448	36912448	Human	1	name
152061955	CV1559411	single nucleotide variant	NM_015474.4(SAMHD1):c.1747-16T>A	Aicardi-Goutieres syndrome 5 [RCV002168104]	likely benign	20	36893082	36893082	Human	1	name
152120420	CV1576193	single nucleotide variant	NM_015474.4(SAMHD1):c.1271-13A>G	Aicardi-Goutieres syndrome 5 [RCV002197973]	likely benign	20	36905516	36905516	Human	1	name
152081564	CV1607820	single nucleotide variant	NM_015474.4(SAMHD1):c.1503+16A>G	Aicardi-Goutieres syndrome 5 [RCV002193085]	likely benign	20	36904141	36904141	Human	1	name
152063944	CV1612177	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+17G>A	Aicardi-Goutieres syndrome 5 [RCV002128703]	likely benign	20	36916705	36916705	Human	1	name
152161861	CV1619556	single nucleotide variant	NM_015474.4(SAMHD1):c.1746+18C>T	Aicardi-Goutieres syndrome 5 [RCV002159780]	likely benign	20	36897804	36897804	Human	1	name
152141469	CV1625868	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-18G>A	Aicardi-Goutieres syndrome 5 [RCV002138232]	likely benign	20	36904267	36904267	Human	1	name
152137713	CV1657721	duplication	NM_015474.4(SAMHD1):c.1747-17dup	Aicardi-Goutieres syndrome 5 [RCV002177640]	likely benign	20	36893082	36893083	Human	1	name
156411249	CV1893041	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-19G>A	Aicardi-Goutieres syndrome 5 [RCV003072399]	likely benign	20	36904268	36904268	Human	1	name
156440374	CV1943427	single nucleotide variant	NM_015474.4(SAMHD1):c.1155-16G>A	Aicardi-Goutieres syndrome 5 [RCV003110406]	likely benign	20	36911349	36911349	Human	1	name
156445284	CV1945286	single nucleotide variant	NM_015474.4(SAMHD1):c.1609-15C>T	Aicardi-Goutieres syndrome 5 [RCV003116224]	likely benign	20	36897974	36897974	Human	1	name
156391209	CV1995578	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+15A>C	Aicardi-Goutieres syndrome 5 [RCV002680780]	likely benign	20	36905349	36905349	Human	1	name
156142514	CV2040910	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+15A>G	Aicardi-Goutieres syndrome 5 [RCV002786574]	likely benign	20	36905349	36905349	Human	1	name
156313568	CV2160629	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-17A>G	Aicardi-Goutieres syndrome 5 [RCV003046171]	likely benign	20	36904266	36904266	Human	1	name
402464593	CV2860749	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+17C>G	Aicardi-Goutieres syndrome 5 [RCV003502806]	likely benign	20	36905347	36905347	Human	1	name
402464817	CV2861230	deletion	NM_015474.4(SAMHD1):c.1747-18del	Aicardi-Goutieres syndrome 5 [RCV003502851]	benign	20	36893084	36893084	Human	1	name
402465154	CV2865380	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-20G>A	Aicardi-Goutieres syndrome 5 [RCV003502934]	likely benign	20	36904269	36904269	Human	1	name
402468942	CV2875934	single nucleotide variant	NM_015474.4(SAMHD1):c.1504-19G>C	Aicardi-Goutieres syndrome 5 [RCV003503849]	likely benign	20	36898563	36898563	Human	1	name
402468076	CV2878737	single nucleotide variant	NM_015474.4(SAMHD1):c.1746+17T>C	Aicardi-Goutieres syndrome 5 [RCV003503750]	likely benign	20	36897805	36897805	Human	1	name
402470286	CV2883144	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+19G>C	Aicardi-Goutieres syndrome 5 [RCV003504351]	likely benign	20	36916703	36916703	Human	1	name
402470680	CV2890461	single nucleotide variant	NM_015474.4(SAMHD1):c.1154+14T>C	Aicardi-Goutieres syndrome 5 [RCV003504434]	likely benign	20	36912447	36912447	Human	1	name
402470883	CV2898033	single nucleotide variant	NM_015474.4(SAMHD1):c.1271-14C>T	Aicardi-Goutieres syndrome 5 [RCV003504496]	likely benign	20	36905517	36905517	Human	1	name
405131738	CV2906590	single nucleotide variant	NM_015474.4(SAMHD1):c.1154+15T>G	Aicardi-Goutieres syndrome 5 [RCV003502211]	likely benign	20	36912446	36912446	Human	1	name
405133969	CV2908496	single nucleotide variant	NM_015474.4(SAMHD1):c.1270+10A>G	Aicardi-Goutieres syndrome 5 [RCV003502448]	likely benign	20	36911208	36911208	Human	1	name
405134379	CV2913052	single nucleotide variant	NM_015474.4(SAMHD1):c.1154+12G>A	Aicardi-Goutieres syndrome 5 [RCV003502485]	likely benign	20	36912449	36912449	Human	1	name
405038296	CV2960082	single nucleotide variant	NM_015474.4(SAMHD1):c.1608+20A>G	Aicardi-Goutieres syndrome 5 [RCV003609495]	likely benign	20	36898420	36898420	Human	1	name
405045026	CV2968297	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+12C>T	Aicardi-Goutieres syndrome 5 [RCV003610093]	likely benign	20	36916710	36916710	Human	1	name
405047269	CV2977330	single nucleotide variant	NM_015474.4(SAMHD1):c.1747-15C>T	Aicardi-Goutieres syndrome 5 [RCV003610239]	likely benign	20	36893081	36893081	Human	1	name
405050633	CV2994982	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-19G>T	Aicardi-Goutieres syndrome 5 [RCV003610491]	likely benign	20	36904268	36904268	Human	1	name
405050476	CV2998278	single nucleotide variant	NM_015474.4(SAMHD1):c.1154+12G>T	Aicardi-Goutieres syndrome 5 [RCV003610479]	likely benign	20	36912449	36912449	Human	1	name
405029771	CV3002079	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+14G>C	Aicardi-Goutieres syndrome 5 [RCV003608684]	likely benign	20	36916708	36916708	Human	1	name
405053751	CV3047302	single nucleotide variant	NM_015474.4(SAMHD1):c.1609-11A>T	Aicardi-Goutieres syndrome 5 [RCV003610768]	likely benign	20	36897970	36897970	Human	1	name
405054517	CV3055078	single nucleotide variant	NM_015474.4(SAMHD1):c.1063-15C>A	Aicardi-Goutieres syndrome 5 [RCV003610832]	likely benign	20	36912567	36912567	Human	1	name
405040624	CV3062998	single nucleotide variant	NM_015474.4(SAMHD1):c.1063-16T>G	Aicardi-Goutieres syndrome 5 [RCV003609740]	likely benign	20	36912568	36912568	Human	1	name
405056346	CV3064151	single nucleotide variant	NM_015474.4(SAMHD1):c.1503+11A>G	Aicardi-Goutieres syndrome 5 [RCV003610965]	likely benign	20	36904146	36904146	Human	1	name
405041251	CV3069637	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-11G>T	Aicardi-Goutieres syndrome 5 [RCV003609710]	likely benign	20	36904260	36904260	Human	1	name
405041556	CV3075788	single nucleotide variant	NM_015474.4(SAMHD1):c.1063-13T>C	Aicardi-Goutieres syndrome 5 [RCV003609799]	likely benign	20	36912565	36912565	Human	1	name
405043232	CV3077407	single nucleotide variant	NM_015474.4(SAMHD1):c.1503+16A>C	Aicardi-Goutieres syndrome 5 [RCV003609962]	likely benign	20	36904141	36904141	Human	1	name
405042521	CV3079800	single nucleotide variant	NM_015474.4(SAMHD1):c.1504-11C>T	Aicardi-Goutieres syndrome 5 [RCV003609907]	likely benign	20	36898555	36898555	Human	1	name
405001014	CV3120331	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+12G>A	Aicardi-Goutieres syndrome 5 [RCV003828121]	likely benign	20	36905352	36905352	Human	1	name
405071548	CV3145384	single nucleotide variant	NM_015474.4(SAMHD1):c.1271-18A>C	Aicardi-Goutieres syndrome 5 [RCV003850969]	likely benign	20	36905521	36905521	Human	1	name
405202511	CV3165086	single nucleotide variant	NM_015474.4(SAMHD1):c.1271-14C>G	Aicardi-Goutieres syndrome 5 [RCV003860947]	likely benign	20	36905517	36905517	Human	1	name
405236124	CV3166316	single nucleotide variant	NM_015474.4(SAMHD1):c.1503+15C>T	Aicardi-Goutieres syndrome 5 [RCV003853765]	likely benign	20	36904142	36904142	Human	1	name
402492501	CV3182581	single nucleotide variant	NM_015474.4(SAMHD1):c.1270+20A>G	Aicardi-Goutieres syndrome 5 [RCV003877068]	likely benign	20	36911198	36911198	Human	1	name
597838108	CV3740280	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+20G>A	Aicardi-Goutieres syndrome 5 [RCV005064308]	likely benign	20	36916702	36916702	Human	1	name
597880571	CV3744835	single nucleotide variant	NM_015474.4(SAMHD1):c.1746+17T>G	Aicardi-Goutieres syndrome 5 [RCV005069860]	likely benign	20	36897805	36897805	Human	1	name
597943132	CV3786377	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+13A>G	Aicardi-Goutieres syndrome 5 [RCV005134068]	likely benign	20	36916709	36916709	Human	1	name
597887600	CV3787519	single nucleotide variant	NM_015474.4(SAMHD1):c.1411-13T>C	Aicardi-Goutieres syndrome 5 [RCV005125085]	likely benign	20	36904262	36904262	Human	1	name
597946632	CV3817738	single nucleotide variant	NM_015474.4(SAMHD1):c.1062+10G>T	Aicardi-Goutieres syndrome 5 [RCV005160204]	likely benign	20	36916712	36916712	Human	1	name
15131917	CV788077	single nucleotide variant	NM_015474.4(SAMHD1):c.1608+10T>A	Aicardi-Goutieres syndrome 5 [RCV000981292]	likely benign	20	36898430	36898430	Human	1	name
28888232	CV887457	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+12G>T	Aicardi-Goutieres syndrome 5 [RCV001138327]\|Chilblain lupus 2 [RCV001138328]	uncertain significance	20	36905352	36905352	Human	2	name
150337073	CV1173344	single nucleotide variant	NM_015474.4(SAMHD1):c.1155-122G>C	not provided [RCV001541389]	benign	20	36911455	36911455	Human		name
150517120	CV1227857	single nucleotide variant	NM_015474.4(SAMHD1):c.1609-215C>T	not provided [RCV001639661]	benign	20	36898174	36898174	Human		name
150469174	CV1259613	duplication	NM_015474.4(SAMHD1):c.1063-225dup	not provided [RCV001683914]	benign	20	36912751	36912752	Human		name
150496487	CV1271537	single nucleotide variant	NM_015474.4(SAMHD1):c.1410+305G>A	not provided [RCV001688837]	benign	20	36905059	36905059	Human		name
150446527	CV1271881	single nucleotide variant	NM_015474.4(SAMHD1):c.1747-190G>A	not provided [RCV001691295]	benign	20	36893256	36893256	Human		name
152127651	CV1530639	microsatellite	NM_015474.4(SAMHD1):c.954-24CT[2]	Aicardi-Goutieres syndrome 5 [RCV002082438]	likely benign	20	36916849	36916850	Human		name
405268497	CV3198925	single nucleotide variant	NM_015474.4(SAMHD1):c.1747-835A>C	SAMHD1-related disorder [RCV004550892]	likely benign	20	36893901	36893901	Human		name , trait , alternate_id
156207069	CV2298016	deletion	NM_015474.4(SAMHD1):c.349-6_354del	Aicardi-Goutieres syndrome 5 [RCV005099800]\|Inborn genetic diseases [RCV002875212]	likely pathogenic	20	36935184	36935195	Human	2	name
15194142	CV760951	microsatellite	NM_015474.4(SAMHD1):c.1747-17CT[3]	Aicardi-Goutieres syndrome 5 [RCV000911040]	likely benign	20	36893076	36893077	Human		name
152094739	CV1561832	single nucleotide variant	NM_015474.4(SAMHD1):c.9A>G (p.Arg3=)	Aicardi-Goutieres syndrome 5 [RCV002194767]	likely benign	20	36951635	36951635	Human	1	name
127272238	CV1107034	single nucleotide variant	NM_015474.4(SAMHD1):c.12C>A (p.Ala4=)	Aicardi-Goutieres syndrome 5 [RCV001431228]	likely benign	20	36951632	36951632	Human	1	name
127294799	CV1128465	single nucleotide variant	NM_015474.4(SAMHD1):c.18C>T (p.Ser6=)	Aicardi Goutieres syndrome [RCV001826310]\|Aicardi-Goutieres syndrome 5 [RCV001476925]	likely benign	20	36951626	36951626	Human	2	name
152116057	CV1554080	single nucleotide variant	NM_015474.4(SAMHD1):c.12C>T (p.Ala4=)	Aicardi-Goutieres syndrome 5 [RCV002117203]	likely benign	20	36951632	36951632	Human	1	name
152053748	CV1573319	single nucleotide variant	NM_015474.4(SAMHD1):c.21G>A (p.Glu7=)	Aicardi-Goutieres syndrome 5 [RCV002207832]	likely benign	20	36951623	36951623	Human	1	name
152124219	CV1587387	single nucleotide variant	NM_015474.4(SAMHD1):c.12C>G (p.Ala4=)	Aicardi-Goutieres syndrome 5 [RCV002136109]	likely benign	20	36951632	36951632	Human	1	name
156107586	CV2120979	single nucleotide variant	NM_015474.4(SAMHD1):c.18C>A (p.Ser6=)	Aicardi-Goutieres syndrome 5 [RCV002952975]	likely benign	20	36951626	36951626	Human	1	name
405037545	CV2945985	single nucleotide variant	NM_015474.4(SAMHD1):c.15T>C (p.Asp5=)	Aicardi-Goutieres syndrome 5 [RCV003609455]	likely benign	20	36951629	36951629	Human	1	name
127240399	CV1085331	single nucleotide variant	NM_015474.4(SAMHD1):c.66C>G (p.Pro22=)	Aicardi-Goutieres syndrome 5 [RCV001392916]	likely benign	20	36951578	36951578	Human	1	name
127248523	CV1107033	single nucleotide variant	NM_015474.4(SAMHD1):c.90A>C (p.Ala30=)	Aicardi-Goutieres syndrome 5 [RCV001424943]	likely benign	20	36951554	36951554	Human	1	name
127300995	CV1128464	single nucleotide variant	NM_015474.4(SAMHD1):c.57G>A (p.Pro19=)	Aicardi-Goutieres syndrome 5 [RCV001454028]	likely benign	20	36951587	36951587	Human	1	name
150534963	CV1311714	single nucleotide variant	NM_015474.4(SAMHD1):c.2T>C (p.Met1Thr)	not specified [RCV001779525]	uncertain significance	20	36951642	36951642	Human		name
152026109	CV1540522	single nucleotide variant	NM_015474.4(SAMHD1):c.63C>T (p.Thr21=)	Aicardi-Goutieres syndrome 5 [RCV002104444]	likely benign	20	36951581	36951581	Human	1	name
152082930	CV1608161	single nucleotide variant	NM_015474.4(SAMHD1):c.99C>A (p.Ser33=)	Aicardi-Goutieres syndrome 5 [RCV002193259]	likely benign	20	36951545	36951545	Human	1	name
152164752	CV1625563	single nucleotide variant	NM_015474.4(SAMHD1):c.48T>C (p.Asp16=)	Aicardi-Goutieres syndrome 5 [RCV002160312]	likely benign	20	36951596	36951596	Human	1	name
152076252	CV1632672	single nucleotide variant	NM_015474.4(SAMHD1):c.99C>T (p.Ser33=)	Aicardi-Goutieres syndrome 5 [RCV002169953]	likely benign	20	36951545	36951545	Human	1	name
152060286	CV1648647	deletion	NM_015474.4(SAMHD1):c.348+19_348+21del	Aicardi-Goutieres syndrome 5 [RCV002090171]	likely benign	20	36941018	36941020	Human	1	name
156014298	CV1876916	deletion	NM_015474.4(SAMHD1):c.510-19_510-18del	Aicardi-Goutieres syndrome 5 [RCV003077272]	likely benign	20	36930893	36930894	Human	1	name
156446742	CV1948094	single nucleotide variant	NM_015474.4(SAMHD1):c.63C>A (p.Thr21=)	Aicardi-Goutieres syndrome 5 [RCV003118256]	likely benign	20	36951581	36951581	Human	1	name
156343085	CV2051662	single nucleotide variant	NM_015474.4(SAMHD1):c.58A>C (p.Arg20=)	Aicardi-Goutieres syndrome 5 [RCV002811306]	likely benign	20	36951586	36951586	Human	1	name
156030011	CV2059061	deletion	NM_015474.4(SAMHD1):c.349-11_349-10del	Aicardi-Goutieres syndrome 5 [RCV002796011]	likely benign	20	36935199	36935200	Human	1	name
156160676	CV2095181	single nucleotide variant	NM_015474.4(SAMHD1):c.78T>C (p.Pro26=)	Aicardi-Goutieres syndrome 5 [RCV002890981]	likely benign	20	36951566	36951566	Human	1	name
155954205	CV2143839	single nucleotide variant	NM_015474.4(SAMHD1):c.63C>G (p.Thr21=)	Aicardi-Goutieres syndrome 5 [RCV002994802]	likely benign	20	36951581	36951581	Human	1	name
156046805	CV2154024	single nucleotide variant	NM_015474.4(SAMHD1):c.75C>G (p.Thr25=)	Aicardi-Goutieres syndrome 5 [RCV003019261]	likely benign	20	36951569	36951569	Human	1	name
156346897	CV2172708	single nucleotide variant	NM_015474.4(SAMHD1):c.81C>G (p.Ser27=)	Aicardi-Goutieres syndrome 5 [RCV003030609]	likely benign	20	36951563	36951563	Human	1	name
156143905	CV2190089	single nucleotide variant	NM_015474.4(SAMHD1):c.57G>C (p.Pro19=)	Aicardi-Goutieres syndrome 5 [RCV003056287]	likely benign	20	36951587	36951587	Human	1	name
402468687	CV2869436	single nucleotide variant	NM_015474.4(SAMHD1):c.84A>T (p.Ala28=)	Aicardi-Goutieres syndrome 5 [RCV003503916]	likely benign	20	36951560	36951560	Human	1	name
402469261	CV2924469	single nucleotide variant	NM_015474.4(SAMHD1):c.33G>A (p.Lys11=)	Aicardi-Goutieres syndrome 5 [RCV003504047]	likely benign	20	36951611	36951611	Human	1	name
405029029	CV2991964	single nucleotide variant	NM_015474.4(SAMHD1):c.84A>G (p.Ala28=)	Aicardi-Goutieres syndrome 5 [RCV003608676]	likely benign	20	36951560	36951560	Human	1	name
405033052	CV3021649	single nucleotide variant	NM_015474.4(SAMHD1):c.81C>A (p.Ser27=)	Aicardi-Goutieres syndrome 5 [RCV003609032]	likely benign	20	36951563	36951563	Human	1	name
405052648	CV3033754	single nucleotide variant	NM_015474.4(SAMHD1):c.75C>T (p.Thr25=)	Aicardi-Goutieres syndrome 5 [RCV003610675]	likely benign	20	36951569	36951569	Human	1	name
402524610	CV3123646	microsatellite	NM_015474.4(SAMHD1):c.349-18_349-15del	Aicardi-Goutieres syndrome 5 [RCV003825072]	likely benign	20	36935204	36935207	Human		name
14708449	CV648659	single nucleotide variant	NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys)	Aicardi-Goutieres syndrome 5 [RCV000809083]\|Aicardi-Goutieres syndrome 5 [RCV005029489]\|not specified [RCV003117599]	likely pathogenic\|uncertain significance	20	36951642	36951642	Human	1	name
15186356	CV773096	single nucleotide variant	NM_015474.4(SAMHD1):c.93C>T (p.Asp31=)	Aicardi Goutieres syndrome [RCV001273108]\|Aicardi-Goutieres syndrome 5 [RCV000931329]	likely benign	20	36951551	36951551	Human	2	name
21073192	CV791979	deletion	NM_015474.4(SAMHD1):c.626-64_626-63del	Aicardi-Goutieres syndrome 5 [RCV000990301]\|not provided [RCV001672995]	benign	20	36927315	36927316	Human	1	name
26903154	CV848379	single nucleotide variant	NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu)	Aicardi Goutieres syndrome [RCV001275560]\|Aicardi-Goutieres syndrome 5 [RCV001036106]\|Inborn genetic diseases [RCV002552458]	uncertain significance	20	36951636	36951636	Human	3	name
126765112	CV1014120	single nucleotide variant	NM_015474.4(SAMHD1):c.225C>T (p.Gly75=)	Aicardi-Goutieres syndrome 5 [RCV001319919]	likely benign\|uncertain significance	20	36946788	36946788	Human	1	name
127231193	CV1085329	single nucleotide variant	NM_015474.4(SAMHD1):c.288G>A (p.Glu96=)	Aicardi-Goutieres syndrome 5 [RCV001395175]	likely benign	20	36941099	36941099	Human	1	name
127280936	CV1107032	single nucleotide variant	NM_015474.4(SAMHD1):c.126C>T (p.Tyr42=)	Aicardi-Goutieres syndrome 5 [RCV001446806]	likely benign	20	36951518	36951518	Human	1	name
127330177	CV1128460	single nucleotide variant	NM_015474.4(SAMHD1):c.294G>A (p.Lys98=)	Aicardi-Goutieres syndrome 5 [RCV001470723]	likely benign	20	36941093	36941093	Human	1	name
127290710	CV1128461	single nucleotide variant	NM_015474.4(SAMHD1):c.291G>A (p.Arg97=)	Aicardi-Goutieres syndrome 5 [RCV001451324]	likely benign	20	36941096	36941096	Human	1	name
127294188	CV1128462	single nucleotide variant	NM_015474.4(SAMHD1):c.120C>T (p.Pro40=)	Aicardi-Goutieres syndrome 5 [RCV001459367]	likely benign	20	36951524	36951524	Human	1	name
127296311	CV1128463	single nucleotide variant	NM_015474.4(SAMHD1):c.114C>G (p.Leu38=)	Aicardi Goutieres syndrome [RCV001832622]\|Aicardi-Goutieres syndrome 5 [RCV001477304]\|SAMHD1-related disorder [RCV004550233]	likely benign	20	36951530	36951530	Human	3	name , trait , alternate_id
127335065	CV1149436	single nucleotide variant	NM_015474.4(SAMHD1):c.267T>G (p.Leu89=)	Aicardi-Goutieres syndrome 5 [RCV001491259]	likely benign	20	36946746	36946746	Human	1	name
127297314	CV1149437	single nucleotide variant	NM_015474.4(SAMHD1):c.229T>C (p.Leu77=)	Aicardi-Goutieres syndrome 5 [RCV001497747]\|not specified [RCV004782750]	likely benign	20	36946784	36946784	Human	1	name
127313364	CV1149438	single nucleotide variant	NM_015474.4(SAMHD1):c.174C>T (p.Gly58=)	Aicardi-Goutieres syndrome 5 [RCV001502143]	likely benign	20	36951470	36951470	Human	1	name
151720713	CV1396720	single nucleotide variant	NM_015474.4(SAMHD1):c.16T>A (p.Ser6Thr)	Aicardi-Goutieres syndrome 5 [RCV001891053]	uncertain significance	20	36951628	36951628	Human	1	name
151793025	CV1420401	single nucleotide variant	NM_015474.4(SAMHD1):c.16T>G (p.Ser6Ala)	Aicardi-Goutieres syndrome 5 [RCV002027399]	uncertain significance	20	36951628	36951628	Human	1	name
151751579	CV1457339	single nucleotide variant	NM_015474.4(SAMHD1):c.17C>T (p.Ser6Phe)	Aicardi-Goutieres syndrome 5 [RCV001913036]	uncertain significance	20	36951627	36951627	Human	1	name
151828462	CV1462080	single nucleotide variant	NM_015474.4(SAMHD1):c.23A>G (p.Gln8Arg)	Aicardi-Goutieres syndrome 5 [RCV001993469]	uncertain significance	20	36951621	36951621	Human	1	name
152137886	CV1525279	single nucleotide variant	NM_015474.4(SAMHD1):c.144G>A (p.Glu48=)	Aicardi-Goutieres syndrome 5 [RCV002137791]\|Aicardi-Goutieres syndrome 5 [RCV002494425]	likely benign	20	36951500	36951500	Human	1	name
152148240	CV1528812	single nucleotide variant	NM_015474.4(SAMHD1):c.204C>T (p.Ile68=)	Aicardi-Goutieres syndrome 5 [RCV002101816]	likely benign	20	36951440	36951440	Human	1	name
152038987	CV1538235	single nucleotide variant	NM_015474.4(SAMHD1):c.153C>T (p.Cys51=)	Aicardi-Goutieres syndrome 5 [RCV002206053]	likely benign	20	36951491	36951491	Human	1	name
152068290	CV1547719	single nucleotide variant	NM_015474.4(SAMHD1):c.186G>C (p.Pro62=)	Aicardi-Goutieres syndrome 5 [RCV002074747]	likely benign	20	36951458	36951458	Human	1	name
152139795	CV1562879	single nucleotide variant	NM_015474.4(SAMHD1):c.228A>G (p.Ala76=)	Aicardi-Goutieres syndrome 5 [RCV002100614]	likely benign	20	36946785	36946785	Human	1	name
152101709	CV1578928	deletion	NM_015474.4(SAMHD1):c.1747-12_1747-9del	Aicardi-Goutieres syndrome 5 [RCV002079081]	likely benign	20	36893075	36893078	Human	1	name
152048456	CV1585388	single nucleotide variant	NM_015474.4(SAMHD1):c.111A>G (p.Glu37=)	Aicardi-Goutieres syndrome 5 [RCV002145365]	likely benign	20	36951533	36951533	Human	1	name
152053216	CV1619337	single nucleotide variant	NM_015474.4(SAMHD1):c.243T>G (p.Leu81=)	Aicardi-Goutieres syndrome 5 [RCV002167131]\|not provided [RCV003438919]	likely benign	20	36946770	36946770	Human	1	name
152089716	CV1634051	single nucleotide variant	NM_015474.4(SAMHD1):c.168C>T (p.Arg56=)	Aicardi-Goutieres syndrome 5 [RCV002194138]	likely benign	20	36951476	36951476	Human	1	name
152095843	CV1661794	single nucleotide variant	NM_015474.4(SAMHD1):c.129G>A (p.Lys43=)	Aicardi-Goutieres syndrome 5 [RCV002172437]	likely benign	20	36951515	36951515	Human	1	name
152100569	CV1664146	single nucleotide variant	NM_015474.4(SAMHD1):c.285G>A (p.Gly95=)	Aicardi-Goutieres syndrome 5 [RCV002078933]	likely benign	20	36941102	36941102	Human	1	name
156012955	CV2051547	single nucleotide variant	NM_015474.4(SAMHD1):c.273A>G (p.Val91=)	Aicardi-Goutieres syndrome 5 [RCV002820222]	likely benign	20	36946740	36946740	Human	1	name
156187871	CV2052148	single nucleotide variant	NM_015474.4(SAMHD1):c.193C>T (p.Leu65=)	Aicardi-Goutieres syndrome 5 [RCV002828515]	likely benign	20	36951451	36951451	Human	1	name
156314310	CV2089582	single nucleotide variant	NM_015474.4(SAMHD1):c.108G>A (p.Leu36=)	Aicardi-Goutieres syndrome 5 [RCV002898898]	likely benign	20	36951536	36951536	Human	1	name
156237160	CV2105208	single nucleotide variant	NM_015474.4(SAMHD1):c.279C>T (p.Ser93=)	Aicardi-Goutieres syndrome 5 [RCV002919162]	likely benign	20	36941108	36941108	Human	1	name
155971129	CV2158139	single nucleotide variant	NM_015474.4(SAMHD1):c.132A>G (p.Thr44=)	Aicardi-Goutieres syndrome 5 [RCV003033440]	likely benign	20	36951512	36951512	Human	1	name
156339358	CV2179654	single nucleotide variant	NM_015474.4(SAMHD1):c.132A>T (p.Thr44=)	Aicardi-Goutieres syndrome 5 [RCV003030200]	likely benign	20	36951512	36951512	Human	1	name
405134297	CV2915821	single nucleotide variant	NM_015474.4(SAMHD1):c.120C>G (p.Pro40=)	Aicardi-Goutieres syndrome 5 [RCV003502478]	likely benign	20	36951524	36951524	Human	1	name
405133552	CV2918715	single nucleotide variant	NM_015474.4(SAMHD1):c.147G>A (p.Gln49=)	Aicardi-Goutieres syndrome 5 [RCV003502407]	likely benign	20	36951497	36951497	Human	1	name
402469026	CV2927407	single nucleotide variant	NM_015474.4(SAMHD1):c.180A>G (p.Glu60=)	Aicardi-Goutieres syndrome 5 [RCV003503983]	likely benign	20	36951464	36951464	Human	1	name
405032746	CV3011134	single nucleotide variant	NM_015474.4(SAMHD1):c.297G>A (p.Lys99=)	Aicardi-Goutieres syndrome 5 [RCV003609004]	likely benign	20	36941090	36941090	Human	1	name
405033095	CV3018063	single nucleotide variant	NM_015474.4(SAMHD1):c.141G>C (p.Pro47=)	Aicardi-Goutieres syndrome 5 [RCV003609036]	likely benign	20	36951503	36951503	Human	1	name
405034046	CV3026291	single nucleotide variant	NM_015474.4(SAMHD1):c.102G>T (p.Pro34=)	Aicardi-Goutieres syndrome 5 [RCV003609116]	likely benign	20	36951542	36951542	Human	1	name
405196006	CV3168099	single nucleotide variant	NM_015474.4(SAMHD1):c.282G>A (p.Leu94=)	Aicardi-Goutieres syndrome 5 [RCV003860231]	likely benign	20	36941105	36941105	Human	1	name
405240410	CV3176734	deletion	NM_015474.4(SAMHD1):c.56del (p.Pro19fs)	Aicardi-Goutieres syndrome 5 [RCV003867172]	pathogenic	20	36951588	36951588	Human	1	name
402507586	CV3181777	single nucleotide variant	NM_015474.4(SAMHD1):c.141G>A (p.Pro47=)	Aicardi-Goutieres syndrome 5 [RCV003878611]	likely benign	20	36951503	36951503	Human	1	name
404985237	CV3183748	single nucleotide variant	NM_015474.4(SAMHD1):c.225C>A (p.Gly75=)	Aicardi-Goutieres syndrome 5 [RCV003881025]	likely benign	20	36946788	36946788	Human	1	name
11628899	CV350955	single nucleotide variant	NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)	Aicardi-Goutieres syndrome 5 [RCV000646785]\|Chilblain lupus 2 [RCV000346918]\|not provided [RCV003437077]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	36951449	36951449	Human	2	name
12743068	CV361524	deletion	NM_015474.4(SAMHD1):c.27del (p.Ser10fs)	not provided [RCV000415962]	uncertain significance	20	36951617	36951617	Human		name
597869002	CV3858333	single nucleotide variant	NM_015474.4(SAMHD1):c.243T>C (p.Leu81=)	Aicardi-Goutieres syndrome 5 [RCV005197076]	likely benign	20	36946770	36946770	Human	1	name
13482936	CV442289	single nucleotide variant	NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)	Aicardi Goutieres syndrome [RCV001834674]\|Aicardi-Goutieres syndrome 5 [RCV000967936]\|not provided [RCV001703184]\|not specified [RCV000518009]	benign\|likely benign	20	36946776	36946776	Human	2	name
13811746	CV572881	deletion	NM_015474.4(SAMHD1):c.1746+4_1746+15del	Aicardi-Goutieres syndrome 5 [RCV000688962]	uncertain significance	20	36897807	36897818	Human	1	name
26923808	CV848378	deletion	NM_015474.4(SAMHD1):c.66del (p.Ser23fs)	Aicardi-Goutieres syndrome 5 [RCV001064679]	pathogenic	20	36951578	36951578	Human	1	name
38487458	CV951088	single nucleotide variant	NM_015474.4(SAMHD1):c.19G>A (p.Glu7Lys)	Aicardi-Goutieres syndrome 5 [RCV001237582]	uncertain significance	20	36951625	36951625	Human	1	name
38471947	CV951089	single nucleotide variant	NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val)	Aicardi Goutieres syndrome [RCV001834005]\|Aicardi-Goutieres syndrome 5 [RCV001231350]	uncertain significance	20	36951633	36951633	Human	2	name
126740581	CV1014121	single nucleotide variant	NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly)	Aicardi Goutieres syndrome [RCV001830369]\|Aicardi-Goutieres syndrome 5 [RCV001325221]	uncertain significance	20	36951601	36951601	Human	2	name
127270338	CV1064824	single nucleotide variant	NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)	Aicardi-Goutieres syndrome 5 [RCV001389810]\|Aicardi-Goutieres syndrome 5 [RCV002499817]	pathogenic\|likely pathogenic	20	36951576	36951576	Human	1	name
127230111	CV1085318	single nucleotide variant	NM_015474.4(SAMHD1):c.861T>C (p.Tyr287=)	Aicardi-Goutieres syndrome 5 [RCV001412352]	likely benign	20	36917041	36917041	Human	1	name
127278932	CV1085319	single nucleotide variant	NM_015474.4(SAMHD1):c.747A>C (p.Gly249=)	Aicardi-Goutieres syndrome 5 [RCV001408809]	likely benign	20	36919469	36919469	Human	1	name
127268509	CV1085320	single nucleotide variant	NM_015474.4(SAMHD1):c.699T>C (p.His233=)	Aicardi-Goutieres syndrome 5 [RCV001404399]	likely benign	20	36919517	36919517	Human	1	name
127231458	CV1085321	single nucleotide variant	NM_015474.4(SAMHD1):c.537T>A (p.Val179=)	Aicardi-Goutieres syndrome 5 [RCV001395335]\|SAMHD1-related disorder [RCV004550109]	likely benign	20	36930848	36930848	Human	2	name , trait , alternate_id
127231960	CV1085322	single nucleotide variant	NM_015474.4(SAMHD1):c.516G>T (p.Gly172=)	Aicardi-Goutieres syndrome 5 [RCV001395507]	likely benign	20	36930869	36930869	Human	1	name
127277152	CV1085324	single nucleotide variant	NM_015474.4(SAMHD1):c.459T>C (p.Gly153=)	Aicardi-Goutieres syndrome 5 [RCV001407593]	likely benign	20	36935079	36935079	Human	1	name
127264919	CV1085325	single nucleotide variant	NM_015474.4(SAMHD1):c.438C>T (p.Tyr146=)	Aicardi-Goutieres syndrome 5 [RCV001403440]	likely benign	20	36935100	36935100	Human	1	name
127236246	CV1085326	single nucleotide variant	NM_015474.4(SAMHD1):c.411T>C (p.Asp137=)	Aicardi-Goutieres syndrome 5 [RCV001414634]	likely benign	20	36935127	36935127	Human	1	name
127257676	CV1085327	single nucleotide variant	NM_015474.4(SAMHD1):c.396C>T (p.Leu132=)	Aicardi Goutieres syndrome [RCV001831468]\|Aicardi-Goutieres syndrome 5 [RCV001419361]	likely benign	20	36935142	36935142	Human	2	name
127267522	CV1107022	single nucleotide variant	NM_015474.4(SAMHD1):c.828T>C (p.Leu276=)	Aicardi-Goutieres syndrome 5 [RCV001429729]	likely benign	20	36919388	36919388	Human	1	name
127279756	CV1107023	single nucleotide variant	NM_015474.4(SAMHD1):c.795T>C (p.Ile265=)	Aicardi-Goutieres syndrome 5 [RCV001445976]	likely benign	20	36919421	36919421	Human	1	name
127239979	CV1107024	single nucleotide variant	NM_015474.4(SAMHD1):c.678C>T (p.Arg226=)	Aicardi-Goutieres syndrome 5 [RCV001423217]	likely benign	20	36927200	36927200	Human	1	name
127257977	CV1107025	single nucleotide variant	NM_015474.4(SAMHD1):c.672T>C (p.Leu224=)	Aicardi-Goutieres syndrome 5 [RCV001437990]	likely benign	20	36927206	36927206	Human	1	name
127278993	CV1107026	single nucleotide variant	NM_015474.4(SAMHD1):c.567G>A (p.Leu189=)	Aicardi-Goutieres syndrome 5 [RCV001445471]	likely benign	20	36930818	36930818	Human	1	name
127267016	CV1107028	single nucleotide variant	NM_015474.4(SAMHD1):c.333C>T (p.His111=)	Aicardi-Goutieres syndrome 5 [RCV001440426]	likely benign	20	36941054	36941054	Human	1	name
127264469	CV1107029	single nucleotide variant	NM_015474.4(SAMHD1):c.300G>A (p.Leu100=)	Aicardi-Goutieres syndrome 5 [RCV001428864]	likely benign	20	36941087	36941087	Human	1	name
127291985	CV1128456	single nucleotide variant	NM_015474.4(SAMHD1):c.657A>G (p.Gly219=)	Aicardi-Goutieres syndrome 5 [RCV001458875]	likely benign	20	36927221	36927221	Human	1	name
127291817	CV1128457	single nucleotide variant	NM_015474.4(SAMHD1):c.534A>C (p.Leu178=)	Aicardi-Goutieres syndrome 5 [RCV001458837]	likely benign	20	36930851	36930851	Human	1	name
127327470	CV1128458	single nucleotide variant	NM_015474.4(SAMHD1):c.441C>A (p.Ile147=)	Aicardi-Goutieres syndrome 5 [RCV001469094]	likely benign	20	36935097	36935097	Human	1	name
127334882	CV1128459	single nucleotide variant	NM_015474.4(SAMHD1):c.384C>T (p.Leu128=)	Aicardi-Goutieres syndrome 5 [RCV001473904]	likely benign	20	36935154	36935154	Human	1	name
127286383	CV1149427	single nucleotide variant	NM_015474.4(SAMHD1):c.753G>A (p.Lys251=)	Aicardi-Goutieres syndrome 5 [RCV001494138]	likely benign	20	36919463	36919463	Human	1	name
127328027	CV1149428	single nucleotide variant	NM_015474.4(SAMHD1):c.681G>T (p.Pro227=)	Aicardi-Goutieres syndrome 5 [RCV001506885]	likely benign	20	36927197	36927197	Human	1	name
127331196	CV1149429	single nucleotide variant	NM_015474.4(SAMHD1):c.525A>C (p.Ala175=)	Aicardi-Goutieres syndrome 5 [RCV001488650]	likely benign	20	36930860	36930860	Human	1	name
127292435	CV1149430	single nucleotide variant	NM_015474.4(SAMHD1):c.516G>A (p.Gly172=)	Aicardi-Goutieres syndrome 5 [RCV001496495]	likely benign	20	36930869	36930869	Human	1	name
127294288	CV1149434	single nucleotide variant	NM_015474.4(SAMHD1):c.339T>C (p.Asp113=)	Aicardi-Goutieres syndrome 5 [RCV001496948]	likely benign	20	36941048	36941048	Human	1	name
151734825	CV1341172	single nucleotide variant	NM_015474.4(SAMHD1):c.35G>A (p.Arg12His)	Aicardi-Goutieres syndrome 5 [RCV001946446]	uncertain significance	20	36951609	36951609	Human	1	name
151872596	CV1366926	single nucleotide variant	NM_015474.4(SAMHD1):c.540C>T (p.His180=)	Aicardi-Goutieres syndrome 5 [RCV001960641]	likely benign	20	36930845	36930845	Human	1	name
151856598	CV1372692	single nucleotide variant	NM_015474.4(SAMHD1):c.56C>G (p.Pro19Arg)	Aicardi-Goutieres syndrome 5 [RCV002033849]	uncertain significance	20	36951588	36951588	Human	1	name
151826285	CV1392255	single nucleotide variant	NM_015474.4(SAMHD1):c.681G>A (p.Pro227=)	Aicardi-Goutieres syndrome 5 [RCV001879686]	likely benign\|uncertain significance	20	36927197	36927197	Human	1	name
151734549	CV1393177	single nucleotide variant	NM_015474.4(SAMHD1):c.852G>A (p.Leu284=)	Aicardi-Goutieres syndrome 5 [RCV001967459]	uncertain significance	20	36919364	36919364	Human	1	name
151840541	CV1407924	single nucleotide variant	NM_015474.4(SAMHD1):c.46G>T (p.Asp16Tyr)	Aicardi-Goutieres syndrome 5 [RCV001881302]	uncertain significance	20	36951598	36951598	Human	1	name
151862371	CV1409032	single nucleotide variant	NM_015474.4(SAMHD1):c.62C>T (p.Thr21Ile)	Aicardi-Goutieres syndrome 5 [RCV001905454]	uncertain significance	20	36951582	36951582	Human	1	name
151759975	CV1448325	single nucleotide variant	NM_015474.4(SAMHD1):c.624C>T (p.Leu208=)	Aicardi-Goutieres syndrome 5 [RCV001949021]	uncertain significance	20	36930761	36930761	Human	1	name
151887153	CV1464466	duplication	NM_015474.4(SAMHD1):c.101dup (p.Leu36fs)	Aicardi-Goutieres syndrome 5 [RCV001942326]	pathogenic	20	36951542	36951543	Human	1	name
151757380	CV1475040	single nucleotide variant	NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser)	Aicardi-Goutieres syndrome 5 [RCV001969803]	uncertain significance	20	36951568	36951568	Human	1	name
151766320	CV1485938	single nucleotide variant	NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp)	Aicardi-Goutieres syndrome 5 [RCV002044811]	uncertain significance	20	36951574	36951574	Human	1	name
151725237	CV1515123	single nucleotide variant	NM_015474.4(SAMHD1):c.55C>T (p.Pro19Ser)	Aicardi-Goutieres syndrome 5 [RCV001983598]	uncertain significance	20	36951589	36951589	Human	1	name
152137325	CV1538099	single nucleotide variant	NM_015474.4(SAMHD1):c.477A>G (p.Gly159=)	Aicardi-Goutieres syndrome 5 [RCV002177594]	likely benign	20	36935061	36935061	Human	1	name
152144003	CV1538505	single nucleotide variant	NM_015474.4(SAMHD1):c.588T>A (p.Val196=)	Aicardi-Goutieres syndrome 5 [RCV002219756]	likely benign	20	36930797	36930797	Human	1	name
152158362	CV1542229	single nucleotide variant	NM_015474.4(SAMHD1):c.513G>C (p.Val171=)	Aicardi-Goutieres syndrome 5 [RCV002203003]	likely benign	20	36930872	36930872	Human	1	name
152155647	CV1560989	single nucleotide variant	NM_015474.4(SAMHD1):c.316C>A (p.Arg106=)	Aicardi-Goutieres syndrome 5 [RCV002102886]	likely benign	20	36941071	36941071	Human	1	name
152128147	CV1572197	single nucleotide variant	NM_015474.4(SAMHD1):c.690A>G (p.Lys230=)	Aicardi-Goutieres syndrome 5 [RCV002217693]	likely benign	20	36927188	36927188	Human	1	name
152056240	CV1582313	single nucleotide variant	NM_015474.4(SAMHD1):c.999C>A (p.Arg333=)	Aicardi-Goutieres syndrome 5 [RCV002089745]	likely benign	20	36916785	36916785	Human	1	name
152158769	CV1620803	single nucleotide variant	NM_015474.4(SAMHD1):c.507A>G (p.Leu169=)	Aicardi-Goutieres syndrome 5 [RCV002203071]	likely benign	20	36935031	36935031	Human	1	name
152076220	CV1632666	single nucleotide variant	NM_015474.4(SAMHD1):c.849A>C (p.Ser283=)	Aicardi-Goutieres syndrome 5 [RCV002169948]	likely benign	20	36919367	36919367	Human	1	name
152057053	CV1635135	single nucleotide variant	NM_015474.4(SAMHD1):c.744T>C (p.Asn248=)	Aicardi-Goutieres syndrome 5 [RCV002089831]	likely benign	20	36919472	36919472	Human	1	name
152138754	CV1645352	single nucleotide variant	NM_015474.4(SAMHD1):c.393C>T (p.Leu131=)	Aicardi-Goutieres syndrome 5 [RCV002137903]	likely benign	20	36935145	36935145	Human	1	name
152116250	CV1645631	single nucleotide variant	NM_015474.4(SAMHD1):c.786A>G (p.Glu262=)	Aicardi-Goutieres syndrome 5 [RCV002174966]\|not provided [RCV003434390]	likely benign	20	36919430	36919430	Human	1	name
152115251	CV1653502	single nucleotide variant	NM_015474.4(SAMHD1):c.448C>T (p.Leu150=)	Aicardi-Goutieres syndrome 5 [RCV002153571]	likely benign	20	36935090	36935090	Human	1	name
152114813	CV1659696	single nucleotide variant	NM_015474.4(SAMHD1):c.645C>T (p.His215=)	Aicardi-Goutieres syndrome 5 [RCV002080748]	likely benign	20	36927233	36927233	Human	1	name
152026296	CV1666346	single nucleotide variant	NM_015474.4(SAMHD1):c.810A>G (p.Glu270=)	Aicardi-Goutieres syndrome 5 [RCV002084751]	likely benign	20	36919406	36919406	Human	1	name
156228819	CV1888877	single nucleotide variant	NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr)	Aicardi-Goutieres syndrome 5 [RCV003085282]	uncertain significance	20	36951562	36951562	Human	1	name
156413382	CV1900927	single nucleotide variant	NM_015474.4(SAMHD1):c.888C>T (p.Phe296=)	Aicardi-Goutieres syndrome 5 [RCV002588149]	uncertain significance	20	36917014	36917014	Human	1	name
156333987	CV1905825	single nucleotide variant	NM_015474.4(SAMHD1):c.80C>T (p.Ser27Phe)	Aicardi-Goutieres syndrome 5 [RCV003089961]	uncertain significance	20	36951564	36951564	Human	1	name
156373434	CV1921096	single nucleotide variant	NM_015474.4(SAMHD1):c.396C>G (p.Leu132=)	Aicardi-Goutieres syndrome 5 [RCV002603379]	likely benign	20	36935142	36935142	Human	1	name
156218795	CV1928104	single nucleotide variant	NM_015474.4(SAMHD1):c.696G>A (p.Thr232=)	Aicardi-Goutieres syndrome 5 [RCV002644316]	uncertain significance	20	36927182	36927182	Human	1	name
156118910	CV1982648	single nucleotide variant	NM_015474.4(SAMHD1):c.774T>C (p.Gly258=)	Aicardi-Goutieres syndrome 5 [RCV002622867]	likely benign	20	36919442	36919442	Human	1	name
156359584	CV2006934	single nucleotide variant	NM_015474.4(SAMHD1):c.771T>C (p.Tyr257=)	Aicardi-Goutieres syndrome 5 [RCV002676158]	likely benign	20	36919445	36919445	Human	1	name
156162573	CV2019511	single nucleotide variant	NM_015474.4(SAMHD1):c.330C>T (p.Ile110=)	Aicardi-Goutieres syndrome 5 [RCV002710228]	likely benign	20	36941057	36941057	Human	1	name
156310770	CV2031538	single nucleotide variant	NM_015474.4(SAMHD1):c.687G>T (p.Val229=)	Aicardi-Goutieres syndrome 5 [RCV002716521]	likely benign	20	36927191	36927191	Human	1	name
155926628	CV2041414	single nucleotide variant	NM_015474.4(SAMHD1):c.381G>A (p.Glu127=)	Aicardi-Goutieres syndrome 5 [RCV002750960]	likely benign	20	36935157	36935157	Human	1	name
156024522	CV2043387	single nucleotide variant	NM_015474.4(SAMHD1):c.49G>A (p.Asp17Asn)	Aicardi-Goutieres syndrome 5 [RCV002780824]	uncertain significance	20	36951595	36951595	Human	1	name
155937984	CV2046024	single nucleotide variant	NM_015474.4(SAMHD1):c.501T>C (p.His167=)	Aicardi-Goutieres syndrome 5 [RCV002751592]	likely benign	20	36935037	36935037	Human	1	name
156140268	CV2082283	single nucleotide variant	NM_015474.4(SAMHD1):c.846T>C (p.Asp282=)	Aicardi-Goutieres syndrome 5 [RCV002871957]	likely benign	20	36919370	36919370	Human	1	name
156106549	CV2089139	single nucleotide variant	NM_015474.4(SAMHD1):c.447G>A (p.Gln149=)	Aicardi-Goutieres syndrome 5 [RCV002848277]	likely benign	20	36935091	36935091	Human	1	name
156038669	CV2121237	single nucleotide variant	NM_015474.4(SAMHD1):c.88G>T (p.Ala30Ser)	Aicardi-Goutieres syndrome 5 [RCV002923823]	uncertain significance	20	36951556	36951556	Human	1	name
156314233	CV2158331	single nucleotide variant	NM_015474.4(SAMHD1):c.879C>T (p.Asn293=)	Aicardi-Goutieres syndrome 5 [RCV003028761]	likely benign	20	36917023	36917023	Human	1	name
156096332	CV2163395	single nucleotide variant	NM_015474.4(SAMHD1):c.903A>G (p.Val301=)	Aicardi-Goutieres syndrome 5 [RCV003038405]	likely benign	20	36916999	36916999	Human	1	name
156221006	CV2173244	single nucleotide variant	NM_015474.4(SAMHD1):c.951C>T (p.Ala317=)	Aicardi-Goutieres syndrome 5 [RCV003025193]	uncertain significance	20	36916951	36916951	Human	1	name
156171181	CV2185030	single nucleotide variant	NM_015474.4(SAMHD1):c.414A>G (p.Thr138=)	Aicardi-Goutieres syndrome 5 [RCV003057227]	likely benign	20	36935124	36935124	Human	1	name
156125093	CV2185556	single nucleotide variant	NM_015474.4(SAMHD1):c.351A>G (p.Val117=)	Aicardi-Goutieres syndrome 5 [RCV003055618]	likely benign	20	36935187	36935187	Human	1	name
156281446	CV2220542	single nucleotide variant	NM_015474.4(SAMHD1):c.44G>A (p.Cys15Tyr)	Inborn genetic diseases [RCV002747127]	uncertain significance	20	36951600	36951600	Human	1	name
402465096	CV2854963	single nucleotide variant	NM_015474.4(SAMHD1):c.369T>C (p.His123=)	Aicardi-Goutieres syndrome 5 [RCV003502918]	likely benign	20	36935169	36935169	Human	1	name
402464808	CV2861200	single nucleotide variant	NM_015474.4(SAMHD1):c.780C>A (p.Ile260=)	Aicardi-Goutieres syndrome 5 [RCV003502849]	likely benign	20	36919436	36919436	Human	1	name
402467692	CV2873813	single nucleotide variant	NM_015474.4(SAMHD1):c.336T>C (p.Val112=)	Aicardi-Goutieres syndrome 5 [RCV003503617]	likely benign	20	36941051	36941051	Human	1	name
402469557	CV2884596	single nucleotide variant	NM_015474.4(SAMHD1):c.402A>C (p.Arg134=)	Aicardi-Goutieres syndrome 5 [RCV003504128]	likely benign	20	36935136	36935136	Human	1	name
402469776	CV2885371	single nucleotide variant	NM_015474.4(SAMHD1):c.669A>G (p.Pro223=)	Aicardi-Goutieres syndrome 5 [RCV003504215]	likely benign	20	36927209	36927209	Human	1	name
405131015	CV2895866	single nucleotide variant	NM_015474.4(SAMHD1):c.822A>G (p.Gly274=)	Aicardi-Goutieres syndrome 5 [RCV003502137]	likely benign	20	36919394	36919394	Human	1	name
405132796	CV2907454	single nucleotide variant	NM_015474.4(SAMHD1):c.819A>G (p.Val273=)	Aicardi-Goutieres syndrome 5 [RCV003502325]	likely benign	20	36919397	36919397	Human	1	name
402466405	CV2928238	single nucleotide variant	NM_015474.4(SAMHD1):c.465T>C (p.Tyr155=)	Aicardi-Goutieres syndrome 5 [RCV003503290]	likely benign	20	36935073	36935073	Human	1	name
402466418	CV2928270	single nucleotide variant	NM_015474.4(SAMHD1):c.588T>C (p.Val196=)	Aicardi-Goutieres syndrome 5 [RCV003503294]	likely benign	20	36930797	36930797	Human	1	name
402466647	CV2931480	single nucleotide variant	NM_015474.4(SAMHD1):c.741T>C (p.Ser247=)	Aicardi-Goutieres syndrome 5 [RCV003503331]	likely benign	20	36919475	36919475	Human	1	name
405028924	CV2991719	single nucleotide variant	NM_015474.4(SAMHD1):c.480T>G (p.Ala160=)	Aicardi-Goutieres syndrome 5 [RCV003608668]	likely benign	20	36935058	36935058	Human	1	name
405031881	CV3009861	single nucleotide variant	NM_015474.4(SAMHD1):c.498G>A (p.Glu166=)	Aicardi-Goutieres syndrome 5 [RCV003608934]	likely benign	20	36935040	36935040	Human	1	name
405032574	CV3013623	single nucleotide variant	NM_015474.4(SAMHD1):c.555A>G (p.Lys185=)	Aicardi-Goutieres syndrome 5 [RCV003608966]	likely benign	20	36930830	36930830	Human	1	name
405040993	CV3070441	single nucleotide variant	NM_015474.4(SAMHD1):c.513G>A (p.Val171=)	Aicardi-Goutieres syndrome 5 [RCV003609773]	likely benign	20	36930872	36930872	Human	1	name
405043493	CV3070867	single nucleotide variant	NM_015474.4(SAMHD1):c.532C>T (p.Leu178=)	Aicardi-Goutieres syndrome 5 [RCV003609816]	likely benign	20	36930853	36930853	Human	1	name
405041522	CV3075728	single nucleotide variant	NM_015474.4(SAMHD1):c.384C>G (p.Leu128=)	Aicardi-Goutieres syndrome 5 [RCV003609796]	likely benign	20	36935154	36935154	Human	1	name
405047097	CV3080810	deletion	NM_015474.4(SAMHD1):c.1746+17_1746+20del	Aicardi-Goutieres syndrome 5 [RCV003609988]	likely benign	20	36897802	36897805	Human	1	name
405191059	CV3118091	deletion	NM_015474.4(SAMHD1):c.287del (p.Glu96fs)	Aicardi-Goutieres syndrome 5 [RCV003821001]	pathogenic	20	36941100	36941100	Human	1	name
405051857	CV3138325	single nucleotide variant	NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg)	Aicardi-Goutieres syndrome 5 [RCV003832169]	uncertain significance	20	36951550	36951550	Human	1	name
11618221	CV335369	single nucleotide variant	NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)	Aicardi Goutieres syndrome [RCV001273109]\|Aicardi-Goutieres syndrome 5 [RCV001086867]\|Chilblain lupus 2 [RCV000407215]\|not provided [RCV000712997]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	36951567	36951567	Human	3	name
11647477	CV335371	single nucleotide variant	NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr)	Aicardi-Goutieres syndrome 5 [RCV000276782]\|Chilblain lupus 2 [RCV000371129]	uncertain significance	20	36951577	36951577	Human	2	name
11627277	CV349943	single nucleotide variant	NM_015474.4(SAMHD1):c.840C>T (p.Val280=)	Aicardi-Goutieres syndrome 5 [RCV000278900]\|Chilblain lupus 2 [RCV000373420]	conflicting interpretations of pathogenicity\|uncertain significance	20	36919376	36919376	Human	2	name
597887984	CV3739196	single nucleotide variant	NM_015474.4(SAMHD1):c.357T>C (p.Asn119=)	Aicardi-Goutieres syndrome 5 [RCV005070743]	likely benign	20	36935181	36935181	Human	1	name
597892007	CV3750097	single nucleotide variant	NM_015474.4(SAMHD1):c.309T>C (p.Tyr103=)	Aicardi-Goutieres syndrome 5 [RCV005071258]	likely benign	20	36941078	36941078	Human	1	name
597938886	CV3775196	single nucleotide variant	NM_015474.4(SAMHD1):c.474A>G (p.Pro158=)	Aicardi-Goutieres syndrome 5 [RCV005118022]	likely benign	20	36935064	36935064	Human	1	name
597909885	CV3806514	single nucleotide variant	NM_015474.4(SAMHD1):c.702A>G (p.Glu234=)	Aicardi-Goutieres syndrome 5 [RCV005154081]	likely benign	20	36919514	36919514	Human	1	name
597932545	CV3812748	single nucleotide variant	NM_015474.4(SAMHD1):c.783T>C (p.Pro261=)	Aicardi-Goutieres syndrome 5 [RCV005157280]	likely benign	20	36919433	36919433	Human	1	name
597976410	CV3820148	single nucleotide variant	NM_015474.4(SAMHD1):c.505C>T (p.Leu169=)	Aicardi-Goutieres syndrome 5 [RCV005169926]	likely benign	20	36935033	36935033	Human	1	name
597885335	CV3835069	single nucleotide variant	NM_015474.4(SAMHD1):c.366C>A (p.Ile122=)	Aicardi-Goutieres syndrome 5 [RCV005178793]	likely benign	20	36935172	36935172	Human	1	name
13818201	CV575094	single nucleotide variant	NM_015474.4(SAMHD1):c.696G>T (p.Thr232=)	Aicardi Goutieres syndrome [RCV001825406]\|Aicardi-Goutieres syndrome 5 [RCV000707550]	uncertain significance	20	36927182	36927182	Human	2	name
14734482	CV648656	single nucleotide variant	NM_015474.4(SAMHD1):c.510G>C (p.Gly170=)	Aicardi Goutieres syndrome [RCV001275559]\|Aicardi-Goutieres syndrome 5 [RCV000819127]\|Inborn genetic diseases [RCV005268787]	likely benign\|uncertain significance	20	36930875	36930875	Human	3	name
15189287	CV728632	single nucleotide variant	NM_015474.4(SAMHD1):c.342A>G (p.Thr114=)	Aicardi Goutieres syndrome [RCV001825791]\|Aicardi-Goutieres syndrome 5 [RCV002065535]	likely benign	20	36941045	36941045	Human	2	name
15102240	CV757496	single nucleotide variant	NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)	Aicardi Goutieres syndrome [RCV001272064]\|Aicardi-Goutieres syndrome 5 [RCV000914931]\|Chilblain lupus 2 [RCV001138749]	likely benign\|conflicting interpretations of pathogenicity	20	36916791	36916791	Human	3	name
15106874	CV757497	single nucleotide variant	NM_015474.4(SAMHD1):c.768A>G (p.Gln256=)	Aicardi Goutieres syndrome [RCV001272066]\|Aicardi-Goutieres syndrome 5 [RCV000915841]\|SAMHD1-related disorder [RCV004740505]	likely benign\|uncertain significance	20	36919448	36919448	Human	3	name , trait , alternate_id
15104122	CV757499	single nucleotide variant	NM_015474.4(SAMHD1):c.534A>G (p.Leu178=)	Aicardi-Goutieres syndrome 5 [RCV003502571]	likely benign	20	36930851	36930851	Human	1	name
15132750	CV757500	single nucleotide variant	NM_015474.4(SAMHD1):c.490C>A (p.Arg164=)	Aicardi-Goutieres syndrome 5 [RCV000920396]	likely benign	20	36935048	36935048	Human	1	name
15123182	CV757501	single nucleotide variant	NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=)	Aicardi Goutieres syndrome [RCV001272067]\|Aicardi-Goutieres syndrome 5 [RCV000918776]	likely benign\|uncertain significance	20	36935076	36935076	Human	2	name
15124325	CV773091	single nucleotide variant	NM_015474.4(SAMHD1):c.924T>C (p.Ile308=)	Aicardi-Goutieres syndrome 5 [RCV001453418]	likely benign	20	36916978	36916978	Human	1	name
15188394	CV773092	single nucleotide variant	NM_015474.4(SAMHD1):c.897G>A (p.Glu299=)	Aicardi-Goutieres syndrome 5 [RCV002544446]	likely benign	20	36917005	36917005	Human	1	name
15175440	CV773093	single nucleotide variant	NM_015474.4(SAMHD1):c.867G>T (p.Gly289=)	Aicardi-Goutieres syndrome 5 [RCV001499337]	likely benign	20	36917035	36917035	Human	1	name
15117952	CV773095	single nucleotide variant	NM_015474.4(SAMHD1):c.513G>T (p.Val171=)	Aicardi-Goutieres syndrome 5 [RCV000939921]	likely benign	20	36930872	36930872	Human	1	name
15130695	CV786368	single nucleotide variant	NM_015474.4(SAMHD1):c.756T>C (p.Pro252=)	Aicardi-Goutieres syndrome 5 [RCV001399825]	likely benign	20	36919460	36919460	Human	1	name
28889577	CV886069	single nucleotide variant	NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)	Aicardi-Goutieres syndrome 5 [RCV001138751]\|Chilblain lupus 2 [RCV001138750]	conflicting interpretations of pathogenicity\|uncertain significance	20	36916794	36916794	Human	2	name
28896710	CV886070	single nucleotide variant	NM_015474.4(SAMHD1):c.933C>T (p.Asp311=)	Aicardi-Goutieres syndrome 5 [RCV001141331]\|Chilblain lupus 2 [RCV001141330]	uncertain significance	20	36916969	36916969	Human	2	name
28896715	CV886071	single nucleotide variant	NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)	Aicardi-Goutieres syndrome 5 [RCV001143184]\|Chilblain lupus 2 [RCV001141332]	conflicting interpretations of pathogenicity\|uncertain significance	20	36930842	36930842	Human	2	name
38479504	CV929177	single nucleotide variant	NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)	Aicardi Goutieres syndrome [RCV001836161]\|Aicardi-Goutieres syndrome 5 [RCV001217143]\|not provided [RCV003326554]	likely benign\|uncertain significance	20	36930839	36930839	Human	2	name
38490400	CV938971	single nucleotide variant	NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp)	Aicardi-Goutieres syndrome 5 [RCV001210637]	uncertain significance	20	36951557	36951557	Human	1	name
38474878	CV938972	duplication	NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup)	Aicardi Goutieres syndrome [RCV001833794]\|Aicardi-Goutieres syndrome 5 [RCV001204003]	uncertain significance	20	36951636	36951637	Human	2	name
40906554	CV980020	single nucleotide variant	NM_015474.4(SAMHD1):c.792T>C (p.Asp264=)	Aicardi Goutieres syndrome [RCV001279953]	uncertain significance	20	36919424	36919424	Human	1	name
126773517	CV1014117	single nucleotide variant	NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=)	Aicardi-Goutieres syndrome 5 [RCV001324379]	likely pathogenic\|uncertain significance	20	36898440	36898440	Human	1	name
126746884	CV1034693	single nucleotide variant	NM_015474.4(SAMHD1):c.254G>A (p.Arg85His)	Aicardi Goutieres syndrome [RCV001831171]\|Aicardi-Goutieres syndrome 5 [RCV001351589]	uncertain significance	20	36946759	36946759	Human	2	name
127262926	CV1064823	deletion	NM_015474.4(SAMHD1):c.328del (p.Ile110fs)	Aicardi-Goutieres syndrome 5 [RCV001387841]	pathogenic	20	36941059	36941059	Human	1	name
127230848	CV1085312	single nucleotide variant	NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=)	Aicardi-Goutieres syndrome 5 [RCV001412760]	likely benign	20	36892953	36892953	Human	1	name
127235289	CV1085313	single nucleotide variant	NM_015474.4(SAMHD1):c.1623G>A (p.Leu541=)	Aicardi-Goutieres syndrome 5 [RCV001414408]\|not provided [RCV002511087]	likely benign	20	36897945	36897945	Human	1	name
127263925	CV1085314	single nucleotide variant	NM_015474.4(SAMHD1):c.1467A>G (p.Leu489=)	Aicardi-Goutieres syndrome 5 [RCV001403116]	likely benign	20	36904193	36904193	Human	1	name
127263479	CV1085316	single nucleotide variant	NM_015474.4(SAMHD1):c.1200A>G (p.Thr400=)	Aicardi-Goutieres syndrome 5 [RCV001403013]	likely benign	20	36911288	36911288	Human	1	name
127272332	CV1107017	single nucleotide variant	NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=)	Aicardi-Goutieres syndrome 5 [RCV001442157]\|not specified [RCV004998900]	likely benign	20	36892965	36892965	Human	1	name
127276587	CV1107018	single nucleotide variant	NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=)	Aicardi-Goutieres syndrome 5 [RCV001432891]	likely benign	20	36893061	36893061	Human	1	name
127278261	CV1107019	single nucleotide variant	NM_015474.4(SAMHD1):c.1645C>T (p.Leu549=)	Aicardi-Goutieres syndrome 5 [RCV001444960]	likely benign	20	36897923	36897923	Human	1	name
127275555	CV1107021	single nucleotide variant	NM_015474.4(SAMHD1):c.1455C>G (p.Pro485=)	Aicardi-Goutieres syndrome 5 [RCV001432426]	likely benign	20	36904205	36904205	Human	1	name
127334717	CV1128449	single nucleotide variant	NM_015474.4(SAMHD1):c.1812C>A (p.Val604=)	Aicardi-Goutieres syndrome 5 [RCV001473791]	likely benign	20	36893001	36893001	Human	1	name
127317691	CV1128451	single nucleotide variant	NM_015474.4(SAMHD1):c.1470C>T (p.Asp490=)	Aicardi-Goutieres syndrome 5 [RCV001465965]	likely benign	20	36904190	36904190	Human	1	name
127318999	CV1128452	single nucleotide variant	NM_015474.4(SAMHD1):c.1368T>C (p.Tyr456=)	Aicardi-Goutieres syndrome 5 [RCV001466424]	likely benign	20	36905406	36905406	Human	1	name
127295834	CV1128453	single nucleotide variant	NM_015474.4(SAMHD1):c.1254C>T (p.Ala418=)	Aicardi-Goutieres syndrome 5 [RCV001452621]	likely benign	20	36911234	36911234	Human	1	name
127309832	CV1149419	single nucleotide variant	NM_015474.4(SAMHD1):c.1563T>C (p.Tyr521=)	Aicardi-Goutieres syndrome 5 [RCV001481000]	likely benign	20	36898485	36898485	Human	1	name
127312650	CV1149420	single nucleotide variant	NM_015474.4(SAMHD1):c.1518T>C (p.Asp506=)	Aicardi-Goutieres syndrome 5 [RCV001481728]	likely benign	20	36898530	36898530	Human	1	name
127312274	CV1149421	single nucleotide variant	NM_015474.4(SAMHD1):c.1257T>C (p.Tyr419=)	Aicardi-Goutieres syndrome 5 [RCV001501873]	likely benign	20	36911231	36911231	Human	1	name
127311408	CV1149422	single nucleotide variant	NM_015474.4(SAMHD1):c.1227T>A (p.Ile409=)	Aicardi-Goutieres syndrome 5 [RCV001501604]	likely benign	20	36911261	36911261	Human	1	name
127329756	CV1149423	single nucleotide variant	NM_015474.4(SAMHD1):c.1224C>A (p.Arg408=)	Aicardi-Goutieres syndrome 5 [RCV001487666]	likely benign	20	36911264	36911264	Human	1	name
127303247	CV1149424	single nucleotide variant	NM_015474.4(SAMHD1):c.1125A>G (p.Gln375=)	Aicardi-Goutieres syndrome 5 [RCV001479204]	likely benign	20	36912490	36912490	Human	1	name
127314606	CV1149425	single nucleotide variant	NM_015474.4(SAMHD1):c.1023T>C (p.Cys341=)	Aicardi-Goutieres syndrome 5 [RCV001502525]	likely benign	20	36916761	36916761	Human	1	name
127290641	CV1149426	single nucleotide variant	NM_015474.4(SAMHD1):c.1014C>T (p.Ala338=)	Aicardi-Goutieres syndrome 5 [RCV001496030]	likely benign	20	36916770	36916770	Human	1	name
151742748	CV1353164	single nucleotide variant	NM_015474.4(SAMHD1):c.226G>A (p.Ala76Thr)	Aicardi-Goutieres syndrome 5 [RCV001893432]	uncertain significance	20	36946787	36946787	Human	1	name
151804532	CV1362913	single nucleotide variant	NM_015474.4(SAMHD1):c.200A>G (p.Asn67Ser)	Aicardi-Goutieres syndrome 5 [RCV002028401]	uncertain significance	20	36951444	36951444	Human	1	name
151750042	CV1377426	single nucleotide variant	NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter)	Aicardi-Goutieres syndrome 5 [RCV001948050]	pathogenic	20	36951463	36951463	Human	1	name
151818522	CV1390586	single nucleotide variant	NM_015474.4(SAMHD1):c.284G>C (p.Gly95Ala)	Aicardi-Goutieres syndrome 5 [RCV001954524]	uncertain significance	20	36941103	36941103	Human	1	name
151790913	CV1399939	single nucleotide variant	NM_015474.4(SAMHD1):c.104G>A (p.Gly35Asp)	Aicardi-Goutieres syndrome 5 [RCV001916809]	uncertain significance	20	36951540	36951540	Human	1	name
151856416	CV1401877	single nucleotide variant	NM_015474.4(SAMHD1):c.184C>T (p.Pro62Ser)	Aicardi-Goutieres syndrome 5 [RCV002017234]	uncertain significance	20	36951460	36951460	Human	1	name
151840089	CV1415326	single nucleotide variant	NM_015474.4(SAMHD1):c.143A>G (p.Glu48Gly)	Aicardi-Goutieres syndrome 5 [RCV001921430]	uncertain significance	20	36951501	36951501	Human	1	name
151843154	CV1418400	single nucleotide variant	NM_015474.4(SAMHD1):c.167G>A (p.Arg56His)	Aicardi-Goutieres syndrome 5 [RCV001903096]\|Inborn genetic diseases [RCV002554233]\|not specified [RCV002271692]	uncertain significance	20	36951477	36951477	Human	2	name
151770242	CV1429080	single nucleotide variant	NM_015474.4(SAMHD1):c.1380G>A (p.Thr460=)	Aicardi-Goutieres syndrome 5 [RCV001988168]	likely benign	20	36905394	36905394	Human	1	name
151886752	CV1441664	single nucleotide variant	NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter)	Aicardi-Goutieres syndrome 5 [RCV001942237]	pathogenic	20	36951517	36951517	Human	1	name
151710807	CV1443455	single nucleotide variant	NM_015474.4(SAMHD1):c.173G>A (p.Gly58Asp)	Aicardi-Goutieres syndrome 5 [RCV001907960]	uncertain significance	20	36951471	36951471	Human	1	name
151776715	CV1450633	single nucleotide variant	NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter)	Aicardi-Goutieres syndrome 5 [RCV001915500]	pathogenic	20	36951448	36951448	Human	1	name
151847606	CV1461848	single nucleotide variant	NM_015474.4(SAMHD1):c.244G>A (p.Asp82Asn)	Aicardi-Goutieres syndrome 5 [RCV001936920]	uncertain significance	20	36946769	36946769	Human	1	name
151836784	CV1469677	single nucleotide variant	NM_015474.4(SAMHD1):c.101C>G (p.Pro34Arg)	Aicardi-Goutieres syndrome 5 [RCV001880877]	uncertain significance	20	36951543	36951543	Human	1	name
151873570	CV1470215	single nucleotide variant	NM_015474.4(SAMHD1):c.188T>G (p.Val63Gly)	Aicardi-Goutieres syndrome 5 [RCV001885580]	uncertain significance	20	36951456	36951456	Human	1	name
151752310	CV1473785	deletion	NM_015474.4(SAMHD1):c.460del (p.Tyr154fs)	Aicardi-Goutieres syndrome 5 [RCV001872377]	pathogenic	20	36935078	36935078	Human	1	name
151865074	CV1511597	single nucleotide variant	NM_015474.4(SAMHD1):c.194T>G (p.Leu65Arg)	Aicardi-Goutieres syndrome 5 [RCV001997629]	uncertain significance	20	36951450	36951450	Human	1	name
151888760	CV1517260	single nucleotide variant	NM_015474.4(SAMHD1):c.101C>T (p.Pro34Leu)	Aicardi-Goutieres syndrome 5 [RCV002038467]	uncertain significance	20	36951543	36951543	Human	1	name
152057239	CV1523161	single nucleotide variant	NM_015474.4(SAMHD1):c.1194G>A (p.Glu398=)	Aicardi-Goutieres syndrome 5 [RCV002167590]	likely benign	20	36911294	36911294	Human	1	name
152062467	CV1533095	single nucleotide variant	NM_015474.4(SAMHD1):c.1674C>T (p.Asp558=)	Aicardi-Goutieres syndrome 5 [RCV002090420]	likely benign	20	36897894	36897894	Human	1	name
152176291	CV1541394	single nucleotide variant	NM_015474.4(SAMHD1):c.1431A>G (p.Pro477=)	Aicardi-Goutieres syndrome 5 [RCV002164436]	likely benign	20	36904229	36904229	Human	1	name
152111294	CV1551391	single nucleotide variant	NM_015474.4(SAMHD1):c.1302T>C (p.Thr434=)	Aicardi-Goutieres syndrome 5 [RCV002196808]	likely benign	20	36905472	36905472	Human	1	name
152102996	CV1560522	single nucleotide variant	NM_015474.4(SAMHD1):c.1122T>C (p.Tyr374=)	Aicardi-Goutieres syndrome 5 [RCV002152036]	likely benign	20	36912493	36912493	Human	1	name
152128124	CV1572194	single nucleotide variant	NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=)	Aicardi-Goutieres syndrome 5 [RCV002217690]	likely benign	20	36893064	36893064	Human	1	name
152093410	CV1598703	single nucleotide variant	NM_015474.4(SAMHD1):c.1431A>C (p.Pro477=)	Aicardi-Goutieres syndrome 5 [RCV002172131]	likely benign	20	36904229	36904229	Human	1	name
152162903	CV1606396	single nucleotide variant	NM_015474.4(SAMHD1):c.1359A>G (p.Leu453=)	Aicardi-Goutieres syndrome 5 [RCV002181240]	likely benign	20	36905415	36905415	Human	1	name
152105536	CV1614696	single nucleotide variant	NM_015474.4(SAMHD1):c.1344T>C (p.Ile448=)	Aicardi-Goutieres syndrome 5 [RCV002079557]	likely benign	20	36905430	36905430	Human	1	name
152131866	CV1621239	single nucleotide variant	NM_015474.4(SAMHD1):c.1230T>C (p.Ser410=)	Aicardi-Goutieres syndrome 5 [RCV002218181]	likely benign	20	36911258	36911258	Human	1	name
152044734	CV1637893	single nucleotide variant	NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=)	Aicardi-Goutieres syndrome 5 [RCV002144955]	likely benign	20	36893046	36893046	Human	1	name
152160493	CV1650153	single nucleotide variant	NM_015474.4(SAMHD1):c.1185C>T (p.Asp395=)	Aicardi-Goutieres syndrome 5 [RCV002159549]	likely benign	20	36911303	36911303	Human	1	name
152147899	CV1653808	single nucleotide variant	NM_015474.4(SAMHD1):c.1312T>C (p.Leu438=)	Aicardi-Goutieres syndrome 5 [RCV002139078]	likely benign	20	36905462	36905462	Human	1	name
152088611	CV1655708	single nucleotide variant	NM_015474.4(SAMHD1):c.1695A>C (p.Ala565=)	Aicardi-Goutieres syndrome 5 [RCV002193994]	likely benign	20	36897873	36897873	Human	1	name
152030320	CV1661412	single nucleotide variant	NM_015474.4(SAMHD1):c.1275C>T (p.Asn425=)	Aicardi-Goutieres syndrome 5 [RCV002124294]	likely benign	20	36905499	36905499	Human	1	name
156182353	CV1868498	deletion	NM_015474.4(SAMHD1):c.987del (p.Phe329fs)	Aicardi-Goutieres syndrome 5 [RCV003041386]	pathogenic	20	36916797	36916797	Human	1	name
156390838	CV1872724	single nucleotide variant	NM_015474.4(SAMHD1):c.284G>T (p.Gly95Val)	Aicardi-Goutieres syndrome 5 [RCV003051299]	uncertain significance	20	36941103	36941103	Human	1	name
156355105	CV1880201	single nucleotide variant	NM_015474.4(SAMHD1):c.1465C>T (p.Leu489=)	Aicardi-Goutieres syndrome 5 [RCV003065171]	likely benign	20	36904195	36904195	Human	1	name
156383824	CV1886710	single nucleotide variant	NM_015474.4(SAMHD1):c.1026A>G (p.Glu342=)	Aicardi-Goutieres syndrome 5 [RCV003093512]	likely benign	20	36916758	36916758	Human	1	name
156289912	CV1886776	single nucleotide variant	NM_015474.4(SAMHD1):c.169G>C (p.Gly57Arg)	Aicardi-Goutieres syndrome 5 [RCV003087440]	uncertain significance	20	36951475	36951475	Human	1	name
156332495	CV1895401	single nucleotide variant	NM_015474.4(SAMHD1):c.147G>C (p.Gln49His)	Aicardi-Goutieres syndrome 5 [RCV003089884]	uncertain significance	20	36951497	36951497	Human	1	name
156407785	CV1915084	single nucleotide variant	NM_015474.4(SAMHD1):c.1740G>A (p.Lys580=)	Aicardi-Goutieres syndrome 5 [RCV002607003]	likely benign	20	36897828	36897828	Human	1	name
156307279	CV1924784	single nucleotide variant	NM_015474.4(SAMHD1):c.139C>G (p.Pro47Ala)	Aicardi-Goutieres syndrome 5 [RCV002629561]	uncertain significance	20	36951505	36951505	Human	1	name
156440531	CV1943581	single nucleotide variant	NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly)	Aicardi-Goutieres syndrome 5 [RCV003110566]\|Aicardi-Goutieres syndrome 5 [RCV005399249]	uncertain significance	20	36946768	36946768	Human	1	name
156393721	CV1962534	single nucleotide variant	NM_015474.4(SAMHD1):c.1020C>T (p.Val340=)	Aicardi-Goutieres syndrome 5 [RCV002584137]	likely benign	20	36916764	36916764	Human	1	name
156362772	CV2003324	single nucleotide variant	NM_015474.4(SAMHD1):c.1143T>C (p.Ile381=)	Aicardi-Goutieres syndrome 5 [RCV002676356]	likely benign	20	36912472	36912472	Human	1	name
156051287	CV2006773	single nucleotide variant	NM_015474.4(SAMHD1):c.1557C>T (p.Ser519=)	Aicardi-Goutieres syndrome 5 [RCV002659375]	likely benign	20	36898491	36898491	Human	1	name
156123706	CV2012229	single nucleotide variant	NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)	Aicardi-Goutieres syndrome 5 [RCV002696137]	likely benign	20	36892986	36892986	Human	1	name
156132985	CV2036659	single nucleotide variant	NM_015474.4(SAMHD1):c.1659T>C (p.Tyr553=)	Aicardi-Goutieres syndrome 5 [RCV002786245]	likely benign	20	36897909	36897909	Human	1	name
156229919	CV2043428	single nucleotide variant	NM_015474.4(SAMHD1):c.289A>G (p.Arg97Gly)	Aicardi-Goutieres syndrome 5 [RCV002805274]	uncertain significance	20	36941098	36941098	Human	1	name
156324647	CV2068420	single nucleotide variant	NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=)	Aicardi-Goutieres syndrome 5 [RCV002834936]	likely benign	20	36892941	36892941	Human	1	name
155923817	CV2073824	single nucleotide variant	NM_015474.4(SAMHD1):c.211A>T (p.Asn71Tyr)	Aicardi-Goutieres syndrome 5 [RCV002838436]	uncertain significance	20	36946802	36946802	Human	1	name
155979005	CV2081829	single nucleotide variant	NM_015474.4(SAMHD1):c.1758T>C (p.Val586=)	Aicardi-Goutieres syndrome 5 [RCV002863675]	likely benign	20	36893055	36893055	Human	1	name
156123207	CV2088602	single nucleotide variant	NM_015474.4(SAMHD1):c.1437G>A (p.Glu479=)	Aicardi-Goutieres syndrome 5 [RCV002889646]	likely benign	20	36904223	36904223	Human	1	name
156008218	CV2099872	single nucleotide variant	NM_015474.4(SAMHD1):c.104G>T (p.Gly35Val)	Aicardi-Goutieres syndrome 5 [RCV002908959]\|Inborn genetic diseases [RCV003167923]	uncertain significance	20	36951540	36951540	Human	2	name
156369943	CV2109680	single nucleotide variant	NM_015474.4(SAMHD1):c.1443C>T (p.Ala481=)	Aicardi-Goutieres syndrome 5 [RCV002942245]	likely benign	20	36904217	36904217	Human	1	name
156022032	CV2111105	single nucleotide variant	NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=)	Aicardi-Goutieres syndrome 5 [RCV002909659]	likely benign	20	36893031	36893031	Human	1	name
156027639	CV2125235	single nucleotide variant	NM_015474.4(SAMHD1):c.253C>T (p.Arg85Cys)	Aicardi-Goutieres syndrome 5 [RCV002949082]\|Inborn genetic diseases [RCV004068084]\|not provided [RCV004809876]	uncertain significance	20	36946760	36946760	Human	2	name
156019200	CV2141109	single nucleotide variant	NM_015474.4(SAMHD1):c.119C>T (p.Pro40Leu)	Aicardi-Goutieres syndrome 5 [RCV002976066]	uncertain significance	20	36951525	36951525	Human	1	name
156021146	CV2141291	single nucleotide variant	NM_015474.4(SAMHD1):c.274A>G (p.Ser92Gly)	Aicardi-Goutieres syndrome 5 [RCV002944288]\|Inborn genetic diseases [RCV002976159]	uncertain significance	20	36946739	36946739	Human	2	name
156244026	CV2147621	single nucleotide variant	NM_015474.4(SAMHD1):c.1329G>A (p.Glu443=)	Aicardi-Goutieres syndrome 5 [RCV003026110]	likely benign	20	36905445	36905445	Human	1	name
156080308	CV2173771	single nucleotide variant	NM_015474.4(SAMHD1):c.1464G>A (p.Leu488=)	Aicardi-Goutieres syndrome 5 [RCV003054005]	likely benign	20	36904196	36904196	Human	1	name
156248654	CV2174449	duplication	NM_015474.4(SAMHD1):c.555dup (p.Gln186fs)	Aicardi-Goutieres syndrome 5 [RCV003043708]	pathogenic	20	36930829	36930830	Human	1	name
156210720	CV2175676	single nucleotide variant	NM_015474.4(SAMHD1):c.1179A>G (p.Ala393=)	Aicardi-Goutieres syndrome 5 [RCV003024796]	likely benign	20	36911309	36911309	Human	1	name
156259197	CV2181610	deletion	NM_015474.4(SAMHD1):c.883del (p.Ser295fs)	Aicardi-Goutieres syndrome 5 [RCV003044059]	pathogenic	20	36917019	36917019	Human	1	name
401931730	CV2801654	single nucleotide variant	NM_015474.4(SAMHD1):c.145C>T (p.Gln49Ter)	SAMHD1-related disorder [RCV004552452]	likely pathogenic	20	36951499	36951499	Human		name , trait , alternate_id
401930407	CV2824390	single nucleotide variant	NM_015474.4(SAMHD1):c.1809A>G (p.Ser603=)	not provided [RCV003440390]	likely benign	20	36893004	36893004	Human		name
402467270	CV2855921	single nucleotide variant	NM_015474.4(SAMHD1):c.1161A>C (p.Thr387=)	Aicardi-Goutieres syndrome 5 [RCV003503501]	likely benign	20	36911327	36911327	Human	1	name
402467703	CV2873831	single nucleotide variant	NM_015474.4(SAMHD1):c.1416C>T (p.Asp472=)	Aicardi-Goutieres syndrome 5 [RCV003503620]	likely benign	20	36904244	36904244	Human	1	name
405132520	CV2897101	single nucleotide variant	NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)	Aicardi-Goutieres syndrome 5 [RCV003502295]	likely benign	20	36892974	36892974	Human	1	name
405133266	CV2908113	single nucleotide variant	NM_015474.4(SAMHD1):c.1428T>A (p.Leu476=)	Aicardi-Goutieres syndrome 5 [RCV003502374]	likely benign	20	36904232	36904232	Human	1	name
402465434	CV2909374	single nucleotide variant	NM_015474.4(SAMHD1):c.1335A>G (p.Leu445=)	Aicardi-Goutieres syndrome 5 [RCV003503008]	likely benign	20	36905439	36905439	Human	1	name
402466774	CV2922570	single nucleotide variant	NM_015474.4(SAMHD1):c.1422A>G (p.Glu474=)	Aicardi-Goutieres syndrome 5 [RCV003503366]	likely benign	20	36904238	36904238	Human	1	name
405035850	CV2942848	single nucleotide variant	NM_015474.4(SAMHD1):c.1734C>T (p.Phe578=)	Aicardi-Goutieres syndrome 5 [RCV003609303]	likely benign	20	36897834	36897834	Human	1	name
405035886	CV2942960	deletion	NM_015474.4(SAMHD1):c.779del (p.Ile260fs)	Aicardi-Goutieres syndrome 5 [RCV003609306]	pathogenic	20	36919437	36919437	Human	1	name
405036905	CV2947970	single nucleotide variant	NM_015474.4(SAMHD1):c.1053T>G (p.Ala351=)	Aicardi-Goutieres syndrome 5 [RCV003609396]	likely benign	20	36916731	36916731	Human	1	name
405044570	CV2974404	single nucleotide variant	NM_015474.4(SAMHD1):c.1173C>T (p.Leu391=)	Aicardi-Goutieres syndrome 5 [RCV003610060]	likely benign	20	36911315	36911315	Human	1	name
405048344	CV2987771	single nucleotide variant	NM_015474.4(SAMHD1):c.1581C>T (p.Asn527=)	Aicardi-Goutieres syndrome 5 [RCV003610266]	likely benign	20	36898467	36898467	Human	1	name
405048869	CV2989201	single nucleotide variant	NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=)	Aicardi-Goutieres syndrome 5 [RCV003610358]	likely benign	20	36893037	36893037	Human	1	name
405029629	CV2995476	single nucleotide variant	NM_015474.4(SAMHD1):c.1482G>A (p.Lys494=)	Aicardi-Goutieres syndrome 5 [RCV003608696]	likely benign	20	36904178	36904178	Human	1	name
405031474	CV3012809	single nucleotide variant	NM_015474.4(SAMHD1):c.1365G>A (p.Lys455=)	Aicardi-Goutieres syndrome 5 [RCV003608901]	likely benign	20	36905409	36905409	Human	1	name
405051260	CV3020653	single nucleotide variant	NM_015474.4(SAMHD1):c.1380G>T (p.Thr460=)	Aicardi-Goutieres syndrome 5 [RCV003610539]	likely benign	20	36905394	36905394	Human	1	name
405050848	CV3023563	single nucleotide variant	NM_015474.4(SAMHD1):c.1293A>G (p.Leu431=)	Aicardi-Goutieres syndrome 5 [RCV003610508]	likely benign	20	36905481	36905481	Human	1	name
405051174	CV3024039	single nucleotide variant	NM_015474.4(SAMHD1):c.1701A>G (p.Gln567=)	Aicardi-Goutieres syndrome 5 [RCV003610532]	likely benign	20	36897867	36897867	Human	1	name
405053648	CV3054074	single nucleotide variant	NM_015474.4(SAMHD1):c.1161A>G (p.Thr387=)	Aicardi-Goutieres syndrome 5 [RCV003610759]	likely benign	20	36911327	36911327	Human	1	name
405039929	CV3065124	single nucleotide variant	NM_015474.4(SAMHD1):c.1038G>A (p.Glu346=)	Aicardi-Goutieres syndrome 5 [RCV003609658]	likely benign	20	36916746	36916746	Human	1	name
405041117	CV3078784	single nucleotide variant	NM_015474.4(SAMHD1):c.1521T>C (p.Tyr507=)	Aicardi-Goutieres syndrome 5 [RCV003609784]	likely benign	20	36898527	36898527	Human	1	name
404988969	CV3131860	single nucleotide variant	NM_015474.4(SAMHD1):c.1324C>A (p.Arg442=)	Aicardi-Goutieres syndrome 5 [RCV003826988]	likely benign	20	36905450	36905450	Human	1	name
405253420	CV3174446	single nucleotide variant	NM_015474.4(SAMHD1):c.1389A>G (p.Thr463=)	Aicardi-Goutieres syndrome 5 [RCV003871075]	likely benign	20	36905385	36905385	Human	1	name
11628765	CV350950	single nucleotide variant	NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=)	Aicardi-Goutieres syndrome 5 [RCV000549734]\|Chilblain lupus 2 [RCV000307861]\|SAMHD1-related disorder [RCV004549777]\|not specified [RCV004999341]	benign\|likely benign	20	36897876	36897876	Human	2	name , trait , alternate_id
597950110	CV3768584	single nucleotide variant	NM_015474.4(SAMHD1):c.1638A>C (p.Ala546=)	Aicardi-Goutieres syndrome 5 [RCV005120770]	likely benign	20	36897930	36897930	Human	1	name
597944952	CV3779514	single nucleotide variant	NM_015474.4(SAMHD1):c.1668G>A (p.Lys556=)	Aicardi-Goutieres syndrome 5 [RCV005134478]	likely benign	20	36897900	36897900	Human	1	name
597972149	CV3794162	single nucleotide variant	NM_015474.4(SAMHD1):c.1077G>T (p.Leu359=)	Aicardi-Goutieres syndrome 5 [RCV005142528]	likely benign	20	36912538	36912538	Human	1	name
597927736	CV3816013	single nucleotide variant	NM_015474.4(SAMHD1):c.1134T>C (p.Val378=)	Aicardi-Goutieres syndrome 5 [RCV005156594]	likely benign	20	36912481	36912481	Human	1	name
13619514	CV533596	single nucleotide variant	NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=)	Aicardi-Goutieres syndrome 5 [RCV000646784]\|SAMHD1-related disorder [RCV004547819]	benign\|likely benign	20	36893016	36893016	Human	2	name , trait , alternate_id
15148940	CV716950	single nucleotide variant	NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=)	Aicardi Goutieres syndrome [RCV001827053]\|Aicardi-Goutieres syndrome 5 [RCV000967652]\|SAMHD1-related disorder [RCV004553467]\|not provided [RCV003438636]	likely benign	20	36905454	36905454	Human	3	name , trait , alternate_id
15115080	CV742381	single nucleotide variant	NM_015474.4(SAMHD1):c.1455C>T (p.Pro485=)	Aicardi-Goutieres syndrome 5 [RCV001470156]	likely benign	20	36904205	36904205	Human	1	name
15119189	CV742382	single nucleotide variant	NM_015474.4(SAMHD1):c.1263G>A (p.Lys421=)	Aicardi-Goutieres syndrome 5 [RCV002065624]	likely benign	20	36911225	36911225	Human	1	name
15118139	CV757494	single nucleotide variant	NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)	Aicardi Goutieres syndrome [RCV001272061]\|Aicardi-Goutieres syndrome 5 [RCV000917920]\|not provided [RCV003222172]	likely benign\|uncertain significance	20	36897825	36897825	Human	2	name
15132732	CV757495	single nucleotide variant	NM_015474.4(SAMHD1):c.1050T>C (p.Cys350=)	Aicardi-Goutieres syndrome 5 [RCV000920393]	likely benign	20	36916734	36916734	Human	1	name
15145943	CV773090	single nucleotide variant	NM_015474.4(SAMHD1):c.1350C>T (p.Tyr450=)	Aicardi-Goutieres syndrome 5 [RCV001502822]\|SAMHD1-related disorder [RCV004740512]	likely benign	20	36905424	36905424	Human	2	name , trait , alternate_id
15135813	CV786365	single nucleotide variant	NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=)	Aicardi-Goutieres syndrome 5 [RCV001470706]	likely benign	20	36892980	36892980	Human	1	name
15136234	CV786366	single nucleotide variant	NM_015474.4(SAMHD1):c.1629G>A (p.Glu543=)	Aicardi-Goutieres syndrome 5 [RCV001499352]	likely benign	20	36897939	36897939	Human	1	name
15114633	CV786367	single nucleotide variant	NM_015474.4(SAMHD1):c.1242C>T (p.Asp414=)	Aicardi-Goutieres syndrome 5 [RCV000978254]\|not provided [RCV003432981]	likely benign	20	36911246	36911246	Human	1	name
15173472	CV788716	single nucleotide variant	NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln)	Multiple myeloma [RCV000984113]	likely pathogenic	20	36946754	36946754	Human	2	name
26912974	CV848376	single nucleotide variant	NM_015474.4(SAMHD1):c.249G>T (p.Glu83Asp)	Aicardi-Goutieres syndrome 5 [RCV001039742]	uncertain significance	20	36946764	36946764	Human	1	name
26900246	CV848377	single nucleotide variant	NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr)	Aicardi-Goutieres syndrome 5 [RCV001035257]	uncertain significance	20	36951523	36951523	Human	1	name
28896409	CV886065	single nucleotide variant	NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)	Aicardi-Goutieres syndrome 5 [RCV001141228]\|Chilblain lupus 2 [RCV001141229]	conflicting interpretations of pathogenicity\|uncertain significance	20	36897843	36897843	Human	2	name
38486603	CV929178	single nucleotide variant	NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys)	Aicardi Goutieres syndrome [RCV001828752]\|Aicardi-Goutieres syndrome 5 [RCV001220375]	uncertain significance	20	36941097	36941097	Human	2	name
38468605	CV958833	single nucleotide variant	NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser)	Aicardi Goutieres syndrome [RCV001830029]\|Aicardi-Goutieres syndrome 5 [RCV001248068]	uncertain significance	20	36946787	36946787	Human	2	name
42723276	CV985433	single nucleotide variant	NM_015474.4(SAMHD1):c.109G>T (p.Glu37Ter)	Cerebral palsy [RCV001293275]\|not provided [RCV003232285]	pathogenic	20	36951535	36951535	Human	2	name
126768062	CV1014119	single nucleotide variant	NM_015474.4(SAMHD1):c.889C>G (p.Leu297Val)	Aicardi-Goutieres syndrome 5 [RCV001321144]	uncertain significance	20	36917013	36917013	Human	1	name
126745478	CV1018693	single nucleotide variant	NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys)	Aicardi-Goutieres syndrome 5 [RCV001330674]	uncertain significance	20	36916787	36916787	Human	1	name
127241645	CV1064820	duplication	NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs)	Aicardi-Goutieres syndrome 5 [RCV001383684]	pathogenic	20	36905439	36905440	Human	1	name
127270471	CV1064821	duplication	NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs)	Aicardi-Goutieres syndrome 5 [RCV001389856]	pathogenic	20	36905452	36905453	Human	1	name
150500629	CV1213193	deletion	NM_015474.4(SAMHD1):c.1063-206_1063-200del	not provided [RCV001594605]	benign	20	36912752	36912758	Human		name
150517079	CV1227816	duplication	NM_015474.4(SAMHD1):c.1063-225_1063-224dup	not provided [RCV001639619]	benign	20	36912751	36912752	Human		name
150531964	CV1306165	single nucleotide variant	NM_015474.4(SAMHD1):c.504T>A (p.Ser168Arg)	not provided [RCV001757354]	uncertain significance	20	36935034	36935034	Human		name
8654433	CV131944	single nucleotide variant	NM_015474.4(SAMHD1):c.428G>A (p.Arg143His)	Aicardi-Goutieres syndrome 5 [RCV000114352]\|not provided [RCV002223787]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	20	36935110	36935110	Human	1	name
8654434	CV131945	single nucleotide variant	NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln)	Aicardi-Goutieres syndrome 5 [RCV000114353]\|not provided [RCV003390795]\|not specified [RCV005406823]	pathogenic\|likely pathogenic\|uncertain significance	20	36935104	36935104	Human	1	name
151236271	CV1319727	single nucleotide variant	NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys)	Aicardi-Goutieres syndrome 5 [RCV002544353]\|not specified [RCV001797932]	uncertain significance	20	36919375	36919375	Human	1	name
151662220	CV1332946	single nucleotide variant	NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly)	Aicardi-Goutieres syndrome 5 [RCV001837177]\|Aicardi-Goutieres syndrome 5 [RCV002482382]\|not specified [RCV002300600]	uncertain significance	20	36927202	36927202	Human	1	name
151863374	CV1338962	single nucleotide variant	NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser)	Aicardi-Goutieres syndrome 5 [RCV001997428]	uncertain significance	20	36927211	36927211	Human	1	name
151868527	CV1345571	single nucleotide variant	NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys)	Aicardi-Goutieres syndrome 5 [RCV001924906]	uncertain significance	20	36927202	36927202	Human	1	name
151787340	CV1345642	single nucleotide variant	NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter)	Aicardi-Goutieres syndrome 5 [RCV001897829]	pathogenic	20	36941071	36941071	Human	1	name
151845298	CV1353288	single nucleotide variant	NM_015474.4(SAMHD1):c.984T>G (p.Asn328Lys)	Aicardi-Goutieres syndrome 5 [RCV001957253]	uncertain significance	20	36916800	36916800	Human	1	name
151879037	CV1370207	single nucleotide variant	NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser)	Aicardi-Goutieres syndrome 5 [RCV001961403]	uncertain significance	20	36927228	36927228	Human	1	name
151879087	CV1383635	single nucleotide variant	NM_015474.4(SAMHD1):c.565C>G (p.Leu189Val)	Aicardi-Goutieres syndrome 5 [RCV001907437]	uncertain significance	20	36930820	36930820	Human	1	name
151845730	CV1395012	single nucleotide variant	NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu)	Aicardi-Goutieres syndrome 5 [RCV001995305]	uncertain significance	20	36930814	36930814	Human	1	name
151761869	CV1400849	single nucleotide variant	NM_015474.4(SAMHD1):c.883A>G (p.Ser295Gly)	Aicardi-Goutieres syndrome 5 [RCV002007964]	uncertain significance	20	36917019	36917019	Human	1	name
151730983	CV1421249	single nucleotide variant	NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val)	Aicardi-Goutieres syndrome 5 [RCV001892248]	uncertain significance	20	36930780	36930780	Human	1	name
151793676	CV1422502	single nucleotide variant	NM_015474.4(SAMHD1):c.644A>C (p.His215Pro)	Aicardi-Goutieres syndrome 5 [RCV001898417]	uncertain significance	20	36927234	36927234	Human	1	name
151892197	CV1423124	single nucleotide variant	NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp)	Aicardi-Goutieres syndrome 5 [RCV001943862]	uncertain significance	20	36919490	36919490	Human	1	name
151762499	CV1425509	single nucleotide variant	NM_015474.4(SAMHD1):c.521T>A (p.Leu174Gln)	Aicardi-Goutieres syndrome 5 [RCV001928687]	uncertain significance	20	36930864	36930864	Human	1	name
151884235	CV1428583	single nucleotide variant	NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter)	Aicardi-Goutieres syndrome 5 [RCV002000228]\|not provided [RCV005232740]	pathogenic	20	36927185	36927185	Human	1	name
151886291	CV1441447	deletion	NM_015474.4(SAMHD1):c.1584del (p.Ala529fs)	Aicardi-Goutieres syndrome 5 [RCV001942134]	pathogenic	20	36898464	36898464	Human	1	name
151886283	CV1451076	single nucleotide variant	NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter)	Aicardi-Goutieres syndrome 5 [RCV002037938]\|Aicardi-Goutieres syndrome 5 [RCV005025518]	pathogenic	20	36919513	36919513	Human	1	name
151883476	CV1452384	single nucleotide variant	NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala)	Aicardi-Goutieres syndrome 5 [RCV002037349]	uncertain significance	20	36919369	36919369	Human	1	name
151852475	CV1459618	single nucleotide variant	NM_015474.4(SAMHD1):c.503G>T (p.Ser168Ile)	Aicardi-Goutieres syndrome 5 [RCV002033359]	uncertain significance	20	36935035	36935035	Human	1	name
151783469	CV1481229	single nucleotide variant	NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter)	Aicardi-Goutieres syndrome 5 [RCV001951300]	pathogenic	20	36917041	36917041	Human	1	name
151888088	CV1484832	deletion	NM_015474.4(SAMHD1):c.1034del (p.Asn345fs)	Aicardi-Goutieres syndrome 5 [RCV001963130]	pathogenic	20	36916750	36916750	Human	1	name
151769674	CV1486696	single nucleotide variant	NM_015474.4(SAMHD1):c.559C>A (p.Pro187Thr)	Aicardi-Goutieres syndrome 5 [RCV001914862]	uncertain significance	20	36930826	36930826	Human	1	name
151758386	CV1510682	single nucleotide variant	NM_015474.4(SAMHD1):c.443A>G (p.Lys148Arg)	Aicardi-Goutieres syndrome 5 [RCV001948859]	uncertain significance	20	36935095	36935095	Human	1	name
153000279	CV1682948	single nucleotide variant	NM_015474.4(SAMHD1):c.773G>T (p.Gly258Val)	See cases [RCV002252958]	uncertain significance	20	36919443	36919443	Human		name
155266537	CV1699106	deletion	NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)	Aicardi Goutieres syndrome [RCV002282901]\|Aicardi-Goutieres syndrome 5 [RCV003502616]\|Aicardi-Goutieres syndrome 5 [RCV005025761]	pathogenic\|likely pathogenic	20	36904224	36904224	Human	2	name
155749382	CV1773508	single nucleotide variant	NM_015474.4(SAMHD1):c.308A>G (p.Tyr103Cys)	Aicardi-Goutieres syndrome 5 [RCV002304590]	uncertain significance	20	36941079	36941079	Human	1	name
155798432	CV1862000	single nucleotide variant	NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)	Aicardi-Goutieres syndrome 5 [RCV002471403]\|not provided [RCV003138283]	uncertain significance	20	36919408	36919408	Human	1	name
156375816	CV1868715	single nucleotide variant	NM_015474.4(SAMHD1):c.548G>C (p.Gly183Ala)	Aicardi-Goutieres syndrome 5 [RCV003066710]	uncertain significance	20	36930837	36930837	Human	1	name
156407880	CV1873077	single nucleotide variant	NM_015474.4(SAMHD1):c.397G>A (p.Val133Ile)	Aicardi-Goutieres syndrome 5 [RCV003071052]	uncertain significance	20	36935141	36935141	Human	1	name
155961508	CV1884862	single nucleotide variant	NM_015474.4(SAMHD1):c.631G>A (p.Gly211Arg)	Aicardi-Goutieres syndrome 5 [RCV003074707]	uncertain significance	20	36927247	36927247	Human	1	name
156416841	CV1898265	single nucleotide variant	NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met)	Aicardi-Goutieres syndrome 5 [RCV002610389]\|SAMHD1-related disorder [RCV004550414]	uncertain significance	20	36927183	36927183	Human	2	name , trait , alternate_id
156403718	CV1901754	single nucleotide variant	NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)	Aicardi-Goutieres syndrome 5 [RCV002585270]\|not provided [RCV003435878]	uncertain significance	20	36935123	36935123	Human	1	name
156340306	CV1902648	single nucleotide variant	NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys)	Aicardi-Goutieres syndrome 5 [RCV003090324]	uncertain significance	20	36919450	36919450	Human	1	name
8596275	CV19105	single nucleotide variant	NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)	Aicardi-Goutieres syndrome 5 [RCV000004281]	pathogenic\|likely pathogenic\|uncertain significance	20	36930760	36930760	Human	1	name
8596276	CV19106	single nucleotide variant	NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)	Aicardi Goutieres syndrome [RCV001826413]\|Aicardi-Goutieres syndrome 5 [RCV000004282]\|Aicardi-Goutieres syndrome 5 [RCV002476923]\|not provided [RCV004700185]	pathogenic	20	36935105	36935105	Human	2	name
8596277	CV19108	single nucleotide variant	NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)	Aicardi Goutieres syndrome [RCV001831512]\|Aicardi-Goutieres syndrome 5 [RCV000004284]\|Aicardi-Goutieres syndrome 5 [RCV005025003]	pathogenic\|likely pathogenic	20	36935048	36935048	Human	2	name
8596278	CV19109	single nucleotide variant	NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)	Aicardi-Goutieres syndrome 5 [RCV000004285]	pathogenic	20	36935093	36935093	Human	1	name
8596280	CV19111	single nucleotide variant	NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)	Aicardi-Goutieres syndrome 5 [RCV000004287]	pathogenic	20	36935170	36935170	Human	1	name
8596281	CV19112	single nucleotide variant	NM_015474.4(SAMHD1):c.760A>G (p.Met254Val)	Aicardi-Goutieres syndrome 5 [RCV000004288]\|not specified [RCV005237350]	pathogenic\|uncertain significance	20	36919456	36919456	Human	1	name
156047751	CV1927186	single nucleotide variant	NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln)	Aicardi-Goutieres syndrome 5 [RCV002637825]	uncertain significance	20	36927219	36927219	Human	1	name
156379784	CV1927441	single nucleotide variant	NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile)	Aicardi-Goutieres syndrome 5 [RCV002634177]	uncertain significance	20	36935189	36935189	Human	1	name
156442086	CV1937991	single nucleotide variant	NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)	Aicardi-Goutieres syndrome 5 [RCV003112423]	uncertain significance	20	36935128	36935128	Human	1	name
156082965	CV1992857	single nucleotide variant	NM_015474.4(SAMHD1):c.815T>C (p.Ile272Thr)	Aicardi-Goutieres syndrome 5 [RCV002638958]	uncertain significance	20	36919401	36919401	Human	1	name
156372201	CV1993605	single nucleotide variant	NM_015474.4(SAMHD1):c.343A>C (p.Met115Leu)	Aicardi-Goutieres syndrome 5 [RCV002652992]	uncertain significance	20	36941044	36941044	Human	1	name
155947936	CV1996537	single nucleotide variant	NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu)	Aicardi-Goutieres syndrome 5 [RCV002685853]	uncertain significance	20	36916786	36916786	Human	1	name
156232961	CV2021257	single nucleotide variant	NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg)	Aicardi-Goutieres syndrome 5 [RCV002745376]	uncertain significance	20	36930786	36930786	Human	1	name
155935383	CV2035402	single nucleotide variant	NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu)	Aicardi-Goutieres syndrome 5 [RCV002751416]	uncertain significance	20	36919399	36919399	Human	1	name
155949241	CV2036252	single nucleotide variant	NM_015474.4(SAMHD1):c.491G>A (p.Arg164Gln)	Aicardi-Goutieres syndrome 5 [RCV002775680]	uncertain significance	20	36935047	36935047	Human	1	name
156051581	CV2064561	single nucleotide variant	NM_015474.4(SAMHD1):c.793A>G (p.Ile265Val)	Aicardi-Goutieres syndrome 5 [RCV002846453]	uncertain significance	20	36919423	36919423	Human	1	name
156193031	CV2066461	single nucleotide variant	NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg)	Aicardi-Goutieres syndrome 5 [RCV002828671]	uncertain significance	20	36927189	36927189	Human	1	name
156242675	CV2101522	single nucleotide variant	NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln)	Aicardi-Goutieres syndrome 5 [RCV002894967]	uncertain significance	20	36927196	36927196	Human	1	name
155942494	CV2115033	single nucleotide variant	NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu)	Aicardi-Goutieres syndrome 5 [RCV002904567]	uncertain significance	20	36916827	36916827	Human	1	name
156377688	CV2120780	single nucleotide variant	NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)	Aicardi-Goutieres syndrome 5 [RCV002942877]	pathogenic	20	36930808	36930808	Human	1	name
156058614	CV2134110	single nucleotide variant	NM_015474.4(SAMHD1):c.457G>A (p.Gly153Ser)	Aicardi-Goutieres syndrome 5 [RCV003000120]	uncertain significance	20	36935081	36935081	Human	1	name
156115008	CV2150464	deletion	NM_015474.4(SAMHD1):c.1618del (p.Leu540fs)	Aicardi-Goutieres syndrome 5 [RCV003021567]	pathogenic	20	36897950	36897950	Human	1	name
156305171	CV2157196	single nucleotide variant	NM_015474.4(SAMHD1):c.427C>A (p.Arg143Ser)	Aicardi-Goutieres syndrome 5 [RCV003028285]	uncertain significance	20	36935111	36935111	Human	1	name
156130107	CV2158730	single nucleotide variant	NM_015474.4(SAMHD1):c.335T>C (p.Val112Ala)	Aicardi-Goutieres syndrome 5 [RCV003022143]	uncertain significance	20	36941052	36941052	Human	1	name
155998653	CV2168905	single nucleotide variant	NM_015474.4(SAMHD1):c.899T>C (p.Ile300Thr)	Aicardi-Goutieres syndrome 5 [RCV003017170]	uncertain significance	20	36917003	36917003	Human	1	name
156066340	CV2176035	duplication	NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs)	Aicardi-Goutieres syndrome 5 [RCV003053578]	pathogenic	20	36911268	36911269	Human	1	name
156237512	CV2183797	single nucleotide variant	NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr)	Aicardi-Goutieres syndrome 5 [RCV003059538]	uncertain significance	20	36930769	36930769	Human	1	name
156350975	CV2189669	single nucleotide variant	NM_015474.4(SAMHD1):c.626G>A (p.Gly209Asp)	Aicardi-Goutieres syndrome 5 [RCV003048332]	uncertain significance	20	36927252	36927252	Human	1	name
156343095	CV2232574	single nucleotide variant	NM_015474.4(SAMHD1):c.493T>C (p.Phe165Leu)	Inborn genetic diseases [RCV002719367]	uncertain significance	20	36935045	36935045	Human	1	name
155940069	CV2294021	single nucleotide variant	NM_015474.4(SAMHD1):c.955G>A (p.Asp319Asn)	Inborn genetic diseases [RCV002879521]	uncertain significance	20	36916829	36916829	Human	1	name
243064124	CV2410902	single nucleotide variant	NM_015474.4(SAMHD1):c.736A>G (p.Asn246Asp)	not provided [RCV003142741]	uncertain significance	20	36919480	36919480	Human		name
329848857	CV2523606	single nucleotide variant	NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)	Aicardi-Goutieres syndrome 5 [RCV003225620]	likely pathogenic	20	36916816	36916816	Human	1	name
329847019	CV2524105	single nucleotide variant	NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)	Aicardi Goutieres syndrome [RCV003226811]	likely pathogenic	20	36917033	36917033	Human	1	name
401746271	CV2678805	single nucleotide variant	NM_015474.4(SAMHD1):c.317G>T (p.Arg106Leu)	Inborn genetic diseases [RCV003252535]	uncertain significance	20	36941070	36941070	Human	1	name
401918720	CV2794654	single nucleotide variant	NM_015474.4(SAMHD1):c.767A>C (p.Gln256Pro)	not specified [RCV003388328]	uncertain significance	20	36919449	36919449	Human		name
402468090	CV2875078	deletion	NM_015474.4(SAMHD1):c.1211del (p.Gly404fs)	Aicardi-Goutieres syndrome 5 [RCV003503754]	pathogenic	20	36911277	36911277	Human	1	name
405132427	CV2900947	deletion	NM_015474.4(SAMHD1):c.1389del (p.Gly464fs)	Aicardi-Goutieres syndrome 5 [RCV003502285]	pathogenic	20	36905385	36905385	Human	1	name
402465586	CV2916698	single nucleotide variant	NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)	Aicardi-Goutieres syndrome 5 [RCV003503046]	pathogenic	20	36919450	36919450	Human	1	name
402466103	CV2921728	single nucleotide variant	NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)	Aicardi-Goutieres syndrome 5 [RCV003503209]	pathogenic	20	36919405	36919405	Human	1	name
402469078	CV2923941	single nucleotide variant	NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)	Aicardi-Goutieres syndrome 5 [RCV003503997]	pathogenic	20	36916992	36916992	Human	1	name
405045693	CV2972620	deletion	NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)	Aicardi-Goutieres syndrome 5 [RCV003610141]	pathogenic	20	36911319	36911319	Human	1	name
405029458	CV3002705	deletion	NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)	Aicardi-Goutieres syndrome 5 [RCV003608734]	pathogenic	20	36897956	36897956	Human	1	name
405033619	CV3018510	single nucleotide variant	NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)	Aicardi-Goutieres syndrome 5 [RCV003609056]	pathogenic	20	36919368	36919368	Human	1	name
405050808	CV3026801	single nucleotide variant	NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)	Aicardi-Goutieres syndrome 5 [RCV003610505]	pathogenic	20	36917047	36917047	Human	1	name
405184529	CV3124184	single nucleotide variant	NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)	Aicardi-Goutieres syndrome 5 [RCV003820382]	pathogenic	20	36935073	36935073	Human	1	name
405050526	CV3150923	single nucleotide variant	NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)	Aicardi-Goutieres syndrome 5 [RCV003849527]	uncertain significance	20	36916949	36916949	Human	1	name
405259853	CV3186448	single nucleotide variant	NM_015474.4(SAMHD1):c.317G>A (p.Arg106Gln)	not provided [RCV003884207]	uncertain significance	20	36941070	36941070	Human		name
405275452	CV3204846	deletion	NM_015474.4(SAMHD1):c.1747-855_1747-843del	SAMHD1-related disorder [RCV004552823]	likely benign	20	36893909	36893921	Human		name , trait , alternate_id
11627611	CV350951	single nucleotide variant	NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln)	Aicardi-Goutieres syndrome 5 [RCV000285230]\|Chilblain lupus 2 [RCV000379642]	likely benign\|uncertain significance	20	36935137	36935137	Human	2	name
11630253	CV350954	single nucleotide variant	NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile)	Aicardi-Goutieres syndrome 5 [RCV000887838]\|Chilblain lupus 2 [RCV000344761]\|SAMHD1-related disorder [RCV004549778]\|not provided [RCV004584690]	likely benign	20	36941053	36941053	Human	2	name , trait , alternate_id
408371518	CV3515952	single nucleotide variant	NM_015474.4(SAMHD1):c.619G>C (p.Asp207His)	SAMHD1-related disorder [RCV004740819]	uncertain significance	20	36930766	36930766	Human		name , trait , alternate_id
408382724	CV3525635	single nucleotide variant	NM_015474.4(SAMHD1):c.868C>T (p.Arg290Cys)	not specified [RCV004766544]	uncertain significance	20	36917034	36917034	Human		name
597632493	CV3604939	single nucleotide variant	NM_015474.4(SAMHD1):c.949G>C (p.Ala317Pro)	Inborn genetic diseases [RCV004968836]	uncertain significance	20	36916953	36916953	Human	1	name
597651838	CV3720733	single nucleotide variant	NM_015474.4(SAMHD1):c.724G>T (p.Glu242Ter)	Aicardi-Goutieres syndrome 5 [RCV005026929]	pathogenic	20	36919492	36919492	Human	1	name
597855247	CV3821778	single nucleotide variant	NM_015474.4(SAMHD1):c.428G>T (p.Arg143Leu)	Aicardi-Goutieres syndrome 5 [RCV005174256]	uncertain significance	20	36935110	36935110	Human	1	name
598223031	CV3903722	single nucleotide variant	NM_015474.4(SAMHD1):c.437A>G (p.Tyr146Cys)	Inborn genetic diseases [RCV005272984]	uncertain significance	20	36935101	36935101	Human	1	name
8602271	CV39561	single nucleotide variant	NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)	Aicardi-Goutieres syndrome 5 [RCV000023577]	pathogenic\|likely pathogenic	20	36935111	36935111	Human	1	name
8602272	CV39562	single nucleotide variant	NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)	Aicardi Goutieres syndrome [RCV000825545]\|Aicardi-Goutieres syndrome 5 [RCV000023578]\|Aicardi-Goutieres syndrome 5 [RCV005031453]\|Chilblain lupus 2 [RCV000023579]\|not provided [RCV001555533]	pathogenic\|likely pathogenic\|uncertain significance	20	36930783	36930783	Human	3	name
12905885	CV413603	single nucleotide variant	NM_015474.4(SAMHD1):c.385C>G (p.His129Asp)	not provided [RCV000488134]	uncertain significance	20	36935153	36935153	Human		name
13462576	CV438796	single nucleotide variant	NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser)	Aicardi Goutieres syndrome [RCV001834651]\|not provided [RCV000514399]\|not specified [RCV005239115]	uncertain significance	20	36935044	36935044	Human	1	name
13471741	CV446233	single nucleotide variant	NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys)	Aicardi Goutieres syndrome [RCV001834699]\|Aicardi-Goutieres syndrome 5 [RCV001857994]\|not provided [RCV000518942]	uncertain significance	20	36935074	36935074	Human	2	name
13531797	CV512450	single nucleotide variant	NM_015474.4(SAMHD1):c.517T>G (p.Tyr173Asp)	Inborn genetic diseases [RCV000623639]	uncertain significance	20	36930868	36930868	Human	1	name
13809278	CV571210	single nucleotide variant	NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val)	Aicardi Goutieres syndrome [RCV001273105]\|Aicardi-Goutieres syndrome 5 [RCV000702055]	uncertain significance	20	36935174	36935174	Human	2	name
13815028	CV575092	deletion	NM_015474.4(SAMHD1):c.1408del (p.Arg470fs)	Aicardi-Goutieres syndrome 5 [RCV000705432]	pathogenic	20	36905366	36905366	Human	1	name
13831415	CV583131	single nucleotide variant	NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val)	Aicardi-Goutieres syndrome 5 [RCV000723336]\|not specified [RCV003489844]	likely pathogenic\|uncertain significance	20	36930814	36930814	Human	1	name
14729483	CV648645	deletion	NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)	Aicardi Goutieres syndrome [RCV001830789]\|Aicardi-Goutieres syndrome 5 [RCV000816971]\|Aicardi-Goutieres syndrome 5 [RCV002495159]	pathogenic\|likely pathogenic	20	36904184	36904184	Human	2	name
14707837	CV648648	single nucleotide variant	NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp)	Aicardi Goutieres syndrome [RCV001272065]\|Aicardi-Goutieres syndrome 5 [RCV000792430]	uncertain significance	20	36919385	36919385	Human	2	name
14723474	CV648649	single nucleotide variant	NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val)	Aicardi Goutieres syndrome [RCV001825566]\|Aicardi-Goutieres syndrome 5 [RCV000797969]	uncertain significance	20	36919483	36919483	Human	2	name
14739587	CV648650	single nucleotide variant	NM_015474.4(SAMHD1):c.728A>C (p.His243Pro)	Aicardi-Goutieres syndrome 5 [RCV000804997]	uncertain significance	20	36919488	36919488	Human	1	name
14706291	CV648651	single nucleotide variant	NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter)	Aicardi-Goutieres syndrome 5 [RCV000791952]	pathogenic	20	36919516	36919516	Human	1	name
14703827	CV648652	single nucleotide variant	NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu)	Aicardi-Goutieres syndrome 5 [RCV000807548]	uncertain significance	20	36927210	36927210	Human	1	name
14728530	CV648653	single nucleotide variant	NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)	Aicardi-Goutieres syndrome 5 [RCV000816561]\|Aicardi-Goutieres syndrome 5 [RCV002478901]	pathogenic\|likely pathogenic	20	36927220	36927220	Human	1	name
14714815	CV648654	single nucleotide variant	NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe)	Aicardi Goutieres syndrome [RCV001825622]\|Aicardi-Goutieres syndrome 5 [RCV000811024]	uncertain significance	20	36930775	36930775	Human	2	name
14711909	CV648655	single nucleotide variant	NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr)	Aicardi Goutieres syndrome [RCV001825618]\|Aicardi-Goutieres syndrome 5 [RCV000810117]	uncertain significance	20	36930844	36930844	Human	2	name
14726054	CV648658	single nucleotide variant	NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter)	Aicardi-Goutieres syndrome 5 [RCV000799060]\|Aicardi-Goutieres syndrome 5 [RCV005029464]\|Inborn genetic diseases [RCV005268759]	pathogenic\|likely pathogenic	20	36935138	36935138	Human	2	name
26917089	CV848370	single nucleotide variant	NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter)	Aicardi-Goutieres syndrome 5 [RCV001042421]	pathogenic	20	36916963	36916963	Human	1	name
26918770	CV848371	single nucleotide variant	NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu)	Aicardi Goutieres syndrome [RCV001827364]\|Aicardi-Goutieres syndrome 5 [RCV001058250]\|not specified [RCV004800682]	uncertain significance	20	36917001	36917001	Human	2	name
26890672	CV848372	single nucleotide variant	NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter)	Aicardi-Goutieres syndrome 5 [RCV001067942]\|Aicardi-Goutieres syndrome 5 [RCV005029660]	pathogenic\|likely pathogenic	20	36930805	36930805	Human	1	name
26895525	CV848373	single nucleotide variant	NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln)	Aicardi Goutieres syndrome [RCV001827304]\|Aicardi-Goutieres syndrome 5 [RCV001047924]	uncertain significance	20	36930823	36930823	Human	2	name
26917306	CV848374	single nucleotide variant	NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu)	Aicardi-Goutieres syndrome 5 [RCV001042558]	uncertain significance	20	36930874	36930874	Human	1	name
26914868	CV848375	single nucleotide variant	NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly)	Aicardi Goutieres syndrome [RCV001827352]\|Aicardi-Goutieres syndrome 5 [RCV001055274]	uncertain significance	20	36935138	36935138	Human	2	name
28892739	CV860637	single nucleotide variant	NM_015474.4(SAMHD1):c.434G>C (p.Arg145Pro)	not provided [RCV001092538]	likely pathogenic	20	36935104	36935104	Human		name
38477171	CV938970	single nucleotide variant	NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu)	Aicardi-Goutieres syndrome 5 [RCV001204971]	uncertain significance	20	36919395	36919395	Human	1	name
38494158	CV958831	single nucleotide variant	NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)	Aicardi Goutieres syndrome [RCV001828970]\|Aicardi-Goutieres syndrome 5 [RCV001241153]\|not provided [RCV003311966]	uncertain significance	20	36916786	36916786	Human	2	name
38499844	CV958832	single nucleotide variant	NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg)	Aicardi Goutieres syndrome [RCV001836234]\|Aicardi-Goutieres syndrome 5 [RCV001245160]	uncertain significance	20	36935084	36935084	Human	2	name
126745057	CV999000	single nucleotide variant	NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu)	Aicardi Goutieres syndrome [RCV001835488]\|Aicardi-Goutieres syndrome 5 [RCV001305928]	uncertain significance	20	36927198	36927198	Human	2	name
126760176	CV1014116	single nucleotide variant	NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr)	Aicardi Goutieres syndrome [RCV001835589]\|Aicardi-Goutieres syndrome 5 [RCV001318266]\|SAMHD1-related disorder [RCV004740664]\|not provided [RCV003313214]\|not specified [RCV005236793]	likely pathogenic\|uncertain significance	20	36897875	36897875	Human	3	name , trait , alternate_id
126754325	CV1014118	single nucleotide variant	NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys)	Aicardi Goutieres syndrome [RCV001830302]\|Aicardi-Goutieres syndrome 5 [RCV001316676]	uncertain significance	20	36912519	36912519	Human	2	name
126772645	CV1034690	single nucleotide variant	NM_015474.4(SAMHD1):c.1723G>A (p.Asp575Asn)	Aicardi-Goutieres syndrome 5 [RCV001345737]	uncertain significance	20	36897845	36897845	Human	1	name
126735564	CV1034691	single nucleotide variant	NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr)	Aicardi Goutieres syndrome [RCV001825959]\|Aicardi-Goutieres syndrome 5 [RCV001350103]	uncertain significance	20	36905390	36905390	Human	2	name
126726424	CV1034692	single nucleotide variant	NM_015474.4(SAMHD1):c.1033A>G (p.Asn345Asp)	Aicardi-Goutieres syndrome 5 [RCV001348451]	uncertain significance	20	36916751	36916751	Human	1	name
126908939	CV1051708	single nucleotide variant	NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr)	Aicardi-Goutieres syndrome 5 [RCV001368156]	uncertain significance	20	36892951	36892951	Human	1	name
126919060	CV1051709	single nucleotide variant	NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr)	Aicardi Goutieres syndrome [RCV001831321]\|Aicardi-Goutieres syndrome 5 [RCV001373018]	uncertain significance	20	36898483	36898483	Human	2	name
127243749	CV1064818	single nucleotide variant	NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter)	Aicardi-Goutieres syndrome 5 [RCV001384083]	pathogenic	20	36898481	36898481	Human	1	name
151233665	CV1317179	single nucleotide variant	NM_015474.4(SAMHD1):c.1049G>A (p.Cys350Tyr)	not provided [RCV001787000]	uncertain significance	20	36916735	36916735	Human		name
8654426	CV131937	single nucleotide variant	NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser)	Aicardi-Goutieres syndrome 5 [RCV000114345]	pathogenic\|not provided	20	36912509	36912509	Human	1	name
8654427	CV131938	single nucleotide variant	NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val)	Aicardi-Goutieres syndrome 5 [RCV000114346]	pathogenic\|uncertain significance\|not provided	20	36912462	36912462	Human	1	name
8654428	CV131939	single nucleotide variant	NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)	Aicardi-Goutieres syndrome 5 [RCV000114347]\|not provided [RCV001781440]	pathogenic\|conflicting interpretations of pathogenicity	20	36905450	36905450	Human	1	name
151351510	CV1323508	single nucleotide variant	NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys)	Aicardi-Goutieres syndrome 5 [RCV001806364]	uncertain significance	20	36897934	36897934	Human	1	name
151353339	CV1326431	single nucleotide variant	NM_015474.4(SAMHD1):c.1520A>G (p.Tyr507Cys)	not provided [RCV001816305]	uncertain significance	20	36898528	36898528	Human		name
151798767	CV1337267	single nucleotide variant	NM_015474.4(SAMHD1):c.1247T>A (p.Met416Lys)	Aicardi-Goutieres syndrome 5 [RCV002047788]	uncertain significance	20	36911241	36911241	Human	1	name
151758425	CV1349838	single nucleotide variant	NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys)	Aicardi-Goutieres syndrome 5 [RCV001986984]\|not provided [RCV003438910]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	36898465	36898465	Human	1	name
151780477	CV1357573	single nucleotide variant	NM_015474.4(SAMHD1):c.1705T>A (p.Phe569Ile)	Aicardi-Goutieres syndrome 5 [RCV001875308]	uncertain significance	20	36897863	36897863	Human	1	name
151760336	CV1357983	single nucleotide variant	NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys)	Aicardi-Goutieres syndrome 5 [RCV001928436]\|Inborn genetic diseases [RCV004043413]	uncertain significance	20	36897910	36897910	Human	2	name
151780309	CV1358165	single nucleotide variant	NM_015474.4(SAMHD1):c.1193A>G (p.Glu398Gly)	Aicardi-Goutieres syndrome 5 [RCV001930375]	uncertain significance	20	36911295	36911295	Human	1	name
151847789	CV1361851	single nucleotide variant	NM_015474.4(SAMHD1):c.1739A>G (p.Lys580Arg)	Aicardi-Goutieres syndrome 5 [RCV001936946]	uncertain significance	20	36897829	36897829	Human	1	name
151764939	CV1362457	single nucleotide variant	NM_015474.4(SAMHD1):c.1136G>A (p.Gly379Asp)	Aicardi-Goutieres syndrome 5 [RCV001970603]	uncertain significance	20	36912479	36912479	Human	1	name
151836698	CV1382520	single nucleotide variant	NM_015474.4(SAMHD1):c.1603A>T (p.Asn535Tyr)	Aicardi-Goutieres syndrome 5 [RCV002031361]	uncertain significance	20	36898445	36898445	Human	1	name
151836211	CV1398033	single nucleotide variant	NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly)	Aicardi-Goutieres syndrome 5 [RCV001977168]\|Inborn genetic diseases [RCV004656798]	uncertain significance	20	36897898	36897898	Human	2	name
151796814	CV1400967	single nucleotide variant	NM_015474.4(SAMHD1):c.1492T>A (p.Phe498Ile)	Aicardi-Goutieres syndrome 5 [RCV002011201]	uncertain significance	20	36904168	36904168	Human	1	name
151743941	CV1405198	single nucleotide variant	NM_015474.4(SAMHD1):c.1391G>A (p.Gly464Glu)	Aicardi-Goutieres syndrome 5 [RCV001912201]	uncertain significance	20	36905383	36905383	Human	1	name
151754194	CV1405543	single nucleotide variant	NM_015474.4(SAMHD1):c.1016G>A (p.Arg339His)	Aicardi-Goutieres syndrome 5 [RCV001927823]	uncertain significance	20	36916768	36916768	Human	1	name
151874572	CV1408453	single nucleotide variant	NM_015474.4(SAMHD1):c.1093A>G (p.Thr365Ala)	Aicardi-Goutieres syndrome 5 [RCV001906906]	uncertain significance	20	36912522	36912522	Human	1	name
151881820	CV1413900	single nucleotide variant	NM_015474.4(SAMHD1):c.1291T>A (p.Leu431Ile)	Aicardi-Goutieres syndrome 5 [RCV002020293]	uncertain significance	20	36905483	36905483	Human	1	name
151843652	CV1414639	single nucleotide variant	NM_015474.4(SAMHD1):c.1034A>G (p.Asn345Ser)	Aicardi-Goutieres syndrome 5 [RCV001903154]	uncertain significance	20	36916750	36916750	Human	1	name
151741089	CV1425362	single nucleotide variant	NM_015474.4(SAMHD1):c.1223G>A (p.Arg408His)	Aicardi-Goutieres syndrome 5 [RCV001926470]	uncertain significance	20	36911265	36911265	Human	1	name
151745918	CV1428226	single nucleotide variant	NM_015474.4(SAMHD1):c.1111C>T (p.Arg371Cys)	Aicardi-Goutieres syndrome 5 [RCV001926960]	uncertain significance	20	36912504	36912504	Human	1	name
151749858	CV1431256	single nucleotide variant	NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter)	Aicardi-Goutieres syndrome 5 [RCV001912871]	uncertain significance	20	36893033	36893033	Human	1	name
151784793	CV1435262	single nucleotide variant	NM_015474.4(SAMHD1):c.1199C>T (p.Thr400Ile)	Aicardi-Goutieres syndrome 5 [RCV001916210]\|Inborn genetic diseases [RCV002557631]	uncertain significance	20	36911289	36911289	Human	2	name
151820735	CV1443076	single nucleotide variant	NM_015474.4(SAMHD1):c.1086G>A (p.Met362Ile)	Aicardi-Goutieres syndrome 5 [RCV002049774]	uncertain significance	20	36912529	36912529	Human	1	name
151818243	CV1446041	single nucleotide variant	NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp)	Aicardi-Goutieres syndrome 5 [RCV001975472]	uncertain significance	20	36893056	36893056	Human	1	name
151797558	CV1446693	single nucleotide variant	NM_015474.4(SAMHD1):c.1459G>A (p.Val487Ile)	Aicardi-Goutieres syndrome 5 [RCV002027784]	uncertain significance	20	36904201	36904201	Human	1	name
151826144	CV1447170	single nucleotide variant	NM_015474.4(SAMHD1):c.1160C>T (p.Thr387Ile)	Aicardi-Goutieres syndrome 5 [RCV001870079]	uncertain significance	20	36911328	36911328	Human	1	name
151890400	CV1448169	single nucleotide variant	NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter)	Aicardi-Goutieres syndrome 5 [RCV001943029]	pathogenic	20	36912492	36912492	Human	1	name
151785452	CV1454932	single nucleotide variant	NM_015474.4(SAMHD1):c.1435G>T (p.Glu479Ter)	Aicardi-Goutieres syndrome 5 [RCV001972486]	pathogenic	20	36904225	36904225	Human	1	name
151870354	CV1466561	single nucleotide variant	NM_015474.4(SAMHD1):c.1391G>T (p.Gly464Val)	Aicardi-Goutieres syndrome 5 [RCV001925122]	uncertain significance	20	36905383	36905383	Human	1	name
151716739	CV1470713	single nucleotide variant	NM_015474.4(SAMHD1):c.1499T>G (p.Val500Gly)	Aicardi-Goutieres syndrome 5 [RCV001909081]	uncertain significance	20	36904161	36904161	Human	1	name
151717142	CV1470825	single nucleotide variant	NM_015474.4(SAMHD1):c.1009T>C (p.Phe337Leu)	Aicardi-Goutieres syndrome 5 [RCV001909135]\|not specified [RCV005419258]	uncertain significance	20	36916775	36916775	Human	1	name
151716127	CV1472744	single nucleotide variant	NM_015474.4(SAMHD1):c.1238T>C (p.Ile413Thr)	Aicardi-Goutieres syndrome 5 [RCV002039363]	uncertain significance	20	36911250	36911250	Human	1	name
151791032	CV1475536	single nucleotide variant	NM_015474.4(SAMHD1):c.1688A>G (p.Tyr563Cys)	Aicardi-Goutieres syndrome 5 [RCV001973055]	uncertain significance	20	36897880	36897880	Human	1	name
151883881	CV1476757	single nucleotide variant	NM_015474.4(SAMHD1):c.1598C>T (p.Thr533Ile)	Aicardi-Goutieres syndrome 5 [RCV001887029]	uncertain significance	20	36898450	36898450	Human	1	name
151860975	CV1483097	single nucleotide variant	NM_015474.4(SAMHD1):c.1201G>A (p.Gly401Ser)	Aicardi-Goutieres syndrome 5 [RCV001883915]	uncertain significance	20	36911287	36911287	Human	1	name
151853911	CV1487145	single nucleotide variant	NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu)	Aicardi-Goutieres syndrome 5 [RCV001937709]	uncertain significance	20	36897826	36897826	Human	1	name
151865212	CV1495045	single nucleotide variant	NM_015474.4(SAMHD1):c.1597A>G (p.Thr533Ala)	Aicardi-Goutieres syndrome 5 [RCV001980631]	uncertain significance	20	36898451	36898451	Human	1	name
151845133	CV1498398	single nucleotide variant	NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn)	Aicardi-Goutieres syndrome 5 [RCV001978174]	uncertain significance	20	36893028	36893028	Human	1	name
151846277	CV1501758	single nucleotide variant	NM_015474.4(SAMHD1):c.1321G>A (p.Ala441Thr)	Aicardi-Goutieres syndrome 5 [RCV002015953]	uncertain significance	20	36905453	36905453	Human	1	name
151749382	CV1511993	single nucleotide variant	NM_015474.4(SAMHD1):c.1523G>A (p.Gly508Glu)	Aicardi-Goutieres syndrome 5 [RCV001986121]	uncertain significance	20	36898525	36898525	Human	1	name
151724178	CV1514865	single nucleotide variant	NM_015474.4(SAMHD1):c.1639G>A (p.Glu547Lys)	Aicardi-Goutieres syndrome 5 [RCV001983475]	uncertain significance	20	36897929	36897929	Human	1	name
155716746	CV1774217	single nucleotide variant	NM_015474.4(SAMHD1):c.1475A>C (p.Lys492Thr)	Aicardi-Goutieres syndrome 5 [RCV002296483]	uncertain significance	20	36904185	36904185	Human	1	name
156182320	CV1868497	single nucleotide variant	NM_015474.4(SAMHD1):c.1265T>A (p.Leu422Gln)	Aicardi-Goutieres syndrome 5 [RCV003041385]	uncertain significance	20	36911223	36911223	Human	1	name
155947594	CV1872425	single nucleotide variant	NM_015474.4(SAMHD1):c.1379C>T (p.Thr460Met)	Aicardi-Goutieres syndrome 5 [RCV003073948]\|Inborn genetic diseases [RCV003073949]	uncertain significance	20	36905395	36905395	Human	2	name
155956122	CV1876773	single nucleotide variant	NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)	Aicardi-Goutieres syndrome 5 [RCV003074423]	uncertain significance	20	36892988	36892988	Human	1	name
156405830	CV1884646	single nucleotide variant	NM_015474.4(SAMHD1):c.1632A>C (p.Lys544Asn)	Aicardi-Goutieres syndrome 5 [RCV003070147]	uncertain significance	20	36897936	36897936	Human	1	name
156403160	CV1885659	single nucleotide variant	NM_015474.4(SAMHD1):c.1536G>T (p.Lys512Asn)	Aicardi-Goutieres syndrome 5 [RCV003069414]	uncertain significance	20	36898512	36898512	Human	1	name
156177604	CV1891891	single nucleotide variant	NM_015474.4(SAMHD1):c.1030G>A (p.Asp344Asn)	Aicardi-Goutieres syndrome 5 [RCV003083447]	uncertain significance	20	36916754	36916754	Human	1	name
156386525	CV1894123	single nucleotide variant	NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)	Aicardi-Goutieres syndrome 5 [RCV003093733]	uncertain significance	20	36892972	36892972	Human	1	name
156354414	CV1894636	single nucleotide variant	NM_015474.4(SAMHD1):c.1552G>A (p.Val518Ile)	Aicardi-Goutieres syndrome 5 [RCV003091231]	uncertain significance	20	36898496	36898496	Human	1	name
156271230	CV1899429	single nucleotide variant	NM_015474.4(SAMHD1):c.1445G>C (p.Ser482Thr)	Aicardi-Goutieres syndrome 5 [RCV003086787]	uncertain significance	20	36904215	36904215	Human	1	name
156374038	CV1901996	single nucleotide variant	NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)	Aicardi-Goutieres syndrome 5 [RCV003092707]	uncertain significance	20	36892937	36892937	Human	1	name
8596279	CV19110	single nucleotide variant	NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)	Aicardi-Goutieres syndrome 5 [RCV000004286]\|Aicardi-Goutieres syndrome 5 [RCV005031386]\|not provided [RCV005416316]	pathogenic	20	36897926	36897926	Human	1	name
156207863	CV1913315	single nucleotide variant	NM_015474.4(SAMHD1):c.1163A>G (p.Asp388Gly)	Aicardi-Goutieres syndrome 5 [RCV002595953]	uncertain significance	20	36911325	36911325	Human	1	name
156375087	CV1930381	single nucleotide variant	NM_015474.4(SAMHD1):c.1024G>A (p.Glu342Lys)	Aicardi-Goutieres syndrome 5 [RCV002633759]\|Inborn genetic diseases [RCV002633758]	likely benign\|uncertain significance	20	36916760	36916760	Human	2	name
156440398	CV1943450	single nucleotide variant	NM_015474.4(SAMHD1):c.1543A>G (p.Ile515Val)	Aicardi-Goutieres syndrome 5 [RCV003110430]	uncertain significance	20	36898505	36898505	Human	1	name
155960407	CV1945422	single nucleotide variant	NM_015474.4(SAMHD1):c.1457A>G (p.Lys486Arg)	Aicardi-Goutieres syndrome 5 [RCV003111713]\|Inborn genetic diseases [RCV002905979]	likely benign\|uncertain significance	20	36904203	36904203	Human	2	name
156319242	CV1965944	single nucleotide variant	NM_015474.4(SAMHD1):c.1130A>G (p.Lys377Arg)	Aicardi-Goutieres syndrome 5 [RCV002600126]\|Inborn genetic diseases [RCV005266297]	uncertain significance	20	36912485	36912485	Human	2	name
156198222	CV1967920	single nucleotide variant	NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met)	Aicardi-Goutieres syndrome 5 [RCV002625638]	uncertain significance	20	36897829	36897829	Human	1	name
156055856	CV1974566	single nucleotide variant	NM_015474.4(SAMHD1):c.1270G>C (p.Asp424His)	Aicardi-Goutieres syndrome 5 [RCV002590811]	uncertain significance	20	36911218	36911218	Human	1	name
156415699	CV1987435	single nucleotide variant	NM_015474.4(SAMHD1):c.1720G>A (p.Ala574Thr)	Aicardi-Goutieres syndrome 5 [RCV002609790]	uncertain significance	20	36897848	36897848	Human	1	name
156388969	CV1989935	single nucleotide variant	NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg)	Aicardi-Goutieres syndrome 5 [RCV002604501]	uncertain significance	20	36897889	36897889	Human	1	name
156402034	CV1992300	single nucleotide variant	NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln)	Aicardi-Goutieres syndrome 5 [RCV002605699]	uncertain significance	20	36897916	36897916	Human	1	name
156307228	CV1999894	single nucleotide variant	NM_015474.4(SAMHD1):c.1447G>A (p.Ala483Thr)	Aicardi-Goutieres syndrome 5 [RCV002671441]	uncertain significance	20	36904213	36904213	Human	1	name
156089279	CV2008900	single nucleotide variant	NM_015474.4(SAMHD1):c.1246A>G (p.Met416Val)	Aicardi-Goutieres syndrome 5 [RCV002706253]	uncertain significance	20	36911242	36911242	Human	1	name
156291889	CV2009768	single nucleotide variant	NM_015474.4(SAMHD1):c.1547A>G (p.Asp516Gly)	Aicardi-Goutieres syndrome 5 [RCV002715687]	uncertain significance	20	36898501	36898501	Human	1	name
156075289	CV2011767	single nucleotide variant	NM_015474.4(SAMHD1):c.1711C>T (p.Gln571Ter)	Aicardi-Goutieres syndrome 5 [RCV002705812]	uncertain significance	20	36897857	36897857	Human	1	name
156063922	CV2018274	single nucleotide variant	NM_015474.4(SAMHD1):c.1593G>T (p.Arg531Ser)	Aicardi-Goutieres syndrome 5 [RCV002705472]	uncertain significance	20	36898455	36898455	Human	1	name
156041618	CV2026408	single nucleotide variant	NM_015474.4(SAMHD1):c.1141A>G (p.Ile381Val)	Aicardi-Goutieres syndrome 5 [RCV002736206]	uncertain significance	20	36912474	36912474	Human	1	name
156218756	CV2035641	single nucleotide variant	NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)	Aicardi-Goutieres syndrome 5 [RCV002766909]	uncertain significance	20	36892936	36892936	Human	1	name
156023339	CV2040820	single nucleotide variant	NM_015474.4(SAMHD1):c.1229C>T (p.Ser410Phe)	Aicardi-Goutieres syndrome 5 [RCV002795689]\|not provided [RCV004593060]	uncertain significance	20	36911259	36911259	Human	1	name
156283769	CV2051591	single nucleotide variant	NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)	Aicardi-Goutieres syndrome 5 [RCV002832932]	uncertain significance	20	36893011	36893011	Human	1	name
156324940	CV2054036	single nucleotide variant	NM_015474.4(SAMHD1):c.1216A>C (p.Lys406Gln)	Aicardi-Goutieres syndrome 5 [RCV002810333]	uncertain significance	20	36911272	36911272	Human	1	name
156334760	CV2057705	single nucleotide variant	NM_015474.4(SAMHD1):c.1648A>T (p.Ile550Phe)	Aicardi-Goutieres syndrome 5 [RCV002810876]	uncertain significance	20	36897920	36897920	Human	1	name
156221951	CV2107365	single nucleotide variant	NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)	Aicardi-Goutieres syndrome 5 [RCV002918602]	uncertain significance	20	36892982	36892982	Human	1	name
155939453	CV2119714	single nucleotide variant	NM_015474.4(SAMHD1):c.1243G>A (p.Asp415Asn)	Aicardi-Goutieres syndrome 5 [RCV002971181]	uncertain significance	20	36911245	36911245	Human	1	name
156229296	CV2121962	single nucleotide variant	NM_015474.4(SAMHD1):c.1012G>T (p.Ala338Ser)	Aicardi-Goutieres syndrome 5 [RCV002958445]	uncertain significance	20	36916772	36916772	Human	1	name
156147356	CV2128302	duplication	NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter)	Aicardi-Goutieres syndrome 5 [RCV002928779]	pathogenic	20	36898481	36898482	Human	1	name
155957417	CV2135250	single nucleotide variant	NM_015474.4(SAMHD1):c.1442C>T (p.Ala481Val)	Aicardi-Goutieres syndrome 5 [RCV002994973]	uncertain significance	20	36904218	36904218	Human	1	name
156120510	CV2147118	single nucleotide variant	NM_015474.4(SAMHD1):c.1618C>T (p.Leu540Phe)	Aicardi-Goutieres syndrome 5 [RCV003021778]	uncertain significance	20	36897950	36897950	Human	1	name
156156252	CV2150812	single nucleotide variant	NM_015474.4(SAMHD1):c.1580A>G (p.Asn527Ser)	Aicardi-Goutieres syndrome 5 [RCV003023028]	uncertain significance	20	36898468	36898468	Human	1	name
156286770	CV2154866	single nucleotide variant	NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr)	Aicardi-Goutieres syndrome 5 [RCV003009802]	uncertain significance	20	36897907	36897907	Human	1	name
156083317	CV2184315	single nucleotide variant	NM_015474.4(SAMHD1):c.1537A>C (p.Asn513His)	Aicardi-Goutieres syndrome 5 [RCV003054105]	uncertain significance	20	36898511	36898511	Human	1	name
11638327	CV274485	single nucleotide variant	NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln)	Aicardi Goutieres syndrome [RCV001833405]\|Aicardi-Goutieres syndrome 5 [RCV001247517]\|Inborn genetic diseases [RCV002518123]\|not provided [RCV000301389]	likely benign\|uncertain significance	20	36892981	36892981	Human	3	name
404993071	CV2850942	single nucleotide variant	NM_015474.4(SAMHD1):c.1166C>G (p.Ala389Gly)	not provided [RCV003491430]	uncertain significance	20	36911322	36911322	Human		name
402465874	CV2921003	duplication	NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter)	Aicardi-Goutieres syndrome 5 [RCV003503121]	pathogenic	20	36916730	36916731	Human	1	name
405048737	CV2978824	single nucleotide variant	NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp)	Aicardi-Goutieres syndrome 5 [RCV003610349]	uncertain significance	20	36905445	36905445	Human	1	name
405239532	CV3165946	duplication	NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)	Aicardi-Goutieres syndrome 5 [RCV003866958]	pathogenic	20	36911231	36911232	Human	1	name
405269178	CV3201250	single nucleotide variant	NM_015474.4(SAMHD1):c.1373G>A (p.Gly458Asp)	SAMHD1-related disorder [RCV004548820]	uncertain significance	20	36905401	36905401	Human		name , trait , alternate_id
11647632	CV335361	single nucleotide variant	NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala)	Aicardi-Goutieres syndrome 5 [RCV000277658]\|Chilblain lupus 2 [RCV000332671]	uncertain significance	20	36916747	36916747	Human	2	name
11626905	CV345200	single nucleotide variant	NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)	Aicardi Goutieres syndrome [RCV001272062]\|Aicardi-Goutieres syndrome 5 [RCV000646782]\|Chilblain lupus 2 [RCV000366296]\|Inborn genetic diseases [RCV002520012]\|not provided [RCV000997772]\|not specified [RCV004526667]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	36898455	36898455	Human	4	name
407469294	CV3483599	single nucleotide variant	NM_015474.4(SAMHD1):c.1036G>A (p.Glu346Lys)	Inborn genetic diseases [RCV004661429]	likely benign	20	36916748	36916748	Human	1	name
11651906	CV349940	single nucleotide variant	NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala)	Aicardi-Goutieres syndrome 5 [RCV000301836]\|Chilblain lupus 2 [RCV000361282]	uncertain significance	20	36897833	36897833	Human	2	name
11629723	CV349941	single nucleotide variant	NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys)	Aicardi Goutieres syndrome [RCV001272063]\|Aicardi-Goutieres syndrome 5 [RCV000646781]\|Chilblain lupus 2 [RCV000367375]	likely benign\|uncertain significance	20	36905381	36905381	Human	3	name
597651828	CV3720732	single nucleotide variant	NM_015474.4(SAMHD1):c.1615C>T (p.Gln539Ter)	Aicardi-Goutieres syndrome 5 [RCV005026928]	likely pathogenic	20	36897953	36897953	Human	1	name
597832134	CV3830916	single nucleotide variant	NM_015474.4(SAMHD1):c.1504G>T (p.Val502Phe)	Aicardi-Goutieres syndrome 5 [RCV005170314]	uncertain significance	20	36898544	36898544	Human	1	name
597831740	CV3863910	single nucleotide variant	NM_015474.4(SAMHD1):c.1401G>C (p.Lys467Asn)	Aicardi-Goutieres syndrome 5 [RCV005208324]	uncertain significance	20	36905373	36905373	Human	1	name
598127423	CV3882654	single nucleotide variant	NM_015474.4(SAMHD1):c.1826G>A (p.Arg609His)	not provided [RCV005234184]	uncertain significance	20	36892987	36892987	Human		name
598223773	CV3892103	single nucleotide variant	NM_015474.4(SAMHD1):c.1652G>C (p.Arg551Pro)	Aicardi-Goutieres syndrome 5 [RCV005253443]	uncertain significance	20	36897916	36897916	Human	1	name
598223039	CV3903724	single nucleotide variant	NM_015474.4(SAMHD1):c.1387A>G (p.Thr463Ala)	Inborn genetic diseases [RCV005272986]	uncertain significance	20	36905387	36905387	Human	1	name
13480972	CV446230	single nucleotide variant	NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp)	Aicardi-Goutieres syndrome 5 [RCV002525193]\|not provided [RCV000521378]	uncertain significance	20	36897911	36897911	Human	1	name
13475737	CV446232	single nucleotide variant	NM_015474.4(SAMHD1):c.1562A>G (p.Tyr521Cys)	not provided [RCV000519967]	uncertain significance	20	36898486	36898486	Human		name
13705382	CV537001	single nucleotide variant	NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)	Aicardi Goutieres syndrome [RCV003323661]\|Aicardi-Goutieres syndrome 5 [RCV001242221]\|Aicardi-Goutieres syndrome 5 [RCV005034227]\|not provided [RCV000657877]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	20	36905431	36905431	Human	2	name
13789256	CV550312	single nucleotide variant	NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe)	Aicardi-Goutieres syndrome 5 [RCV000677342]	conflicting interpretations of pathogenicity\|uncertain significance	20	36905481	36905481	Human	1	name
13805350	CV571202	single nucleotide variant	NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met)	Aicardi Goutieres syndrome [RCV001830542]\|Aicardi-Goutieres syndrome 5 [RCV000700031]	uncertain significance	20	36898458	36898458	Human	2	name
13817337	CV572886	single nucleotide variant	NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro)	Aicardi Goutieres syndrome [RCV001830512]\|Aicardi-Goutieres syndrome 5 [RCV000692955]	uncertain significance	20	36905453	36905453	Human	2	name
13817002	CV575091	single nucleotide variant	NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)	Aicardi Goutieres syndrome [RCV001830566]\|Aicardi-Goutieres syndrome 5 [RCV000706733]\|Aicardi-Goutieres syndrome 5 [RCV000765489]\|Chilblain lupus 2 [RCV001143071]\|Inborn genetic diseases [RCV004026728]	benign\|uncertain significance	20	36904215	36904215	Human	4	name
13816820	CV575093	single nucleotide variant	NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser)	Aicardi-Goutieres syndrome 5 [RCV000706615]	uncertain significance	20	36911230	36911230	Human	1	name
14699405	CV624676	single nucleotide variant	NM_015474.4(SAMHD1):c.1868A>G (p.Asp623Gly)	not provided [RCV000788755]	uncertain significance	20	36892945	36892945	Human		name
14699284	CV624677	single nucleotide variant	NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys)	Aicardi Goutieres syndrome [RCV001835958]\|Aicardi-Goutieres syndrome 5 [RCV001238995]\|not provided [RCV000788588]	uncertain significance	20	36916742	36916742	Human	2	name
14731760	CV648644	single nucleotide variant	NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn)	Aicardi Goutieres syndrome [RCV001275557]\|Aicardi-Goutieres syndrome 5 [RCV000817996]\|Inborn genetic diseases [RCV004028931]\|not provided [RCV004693372]	uncertain significance	20	36893060	36893060	Human	3	name
14737704	CV648646	single nucleotide variant	NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser)	Aicardi Goutieres syndrome [RCV001830803]\|Aicardi-Goutieres syndrome 5 [RCV000820612]	uncertain significance	20	36904207	36904207	Human	2	name
14738369	CV648647	single nucleotide variant	NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu)	Aicardi Goutieres syndrome [RCV001830804]\|Aicardi-Goutieres syndrome 5 [RCV000820901]	uncertain significance	20	36911314	36911314	Human	2	name
21068152	CV797981	single nucleotide variant	NM_015474.4(SAMHD1):c.1352G>A (p.Arg451His)	Aicardi-Goutieres syndrome 5 [RCV005410919]\|not provided [RCV000997773]	uncertain significance	20	36905422	36905422	Human	1	name
26906819	CV848363	single nucleotide variant	NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)	Aicardi-Goutieres syndrome 5 [RCV001037649]\|Aicardi-Goutieres syndrome 5 [RCV002265930]	uncertain significance	20	36893015	36893015	Human	1	name
26885931	CV848364	single nucleotide variant	NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys)	Aicardi-Goutieres syndrome 5 [RCV001043852]	uncertain significance	20	36897857	36897857	Human	1	name
26902275	CV848365	single nucleotide variant	NM_015474.4(SAMHD1):c.1536G>C (p.Lys512Asn)	Aicardi-Goutieres syndrome 5 [RCV001071833]	uncertain significance	20	36898512	36898512	Human	1	name
26904842	CV848366	single nucleotide variant	NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter)	Aicardi-Goutieres syndrome 5 [RCV001051042]	pathogenic	20	36905406	36905406	Human	1	name
26917893	CV848367	single nucleotide variant	NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser)	Aicardi-Goutieres syndrome 5 [RCV001057335]	uncertain significance	20	36911229	36911229	Human	1	name
26898088	CV848368	single nucleotide variant	NM_015474.4(SAMHD1):c.1094C>A (p.Thr365Asn)	Aicardi-Goutieres syndrome 5 [RCV001048787]	uncertain significance	20	36912521	36912521	Human	1	name
26896134	CV848369	single nucleotide variant	NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn)	Aicardi Goutieres syndrome [RCV001275558]\|Aicardi-Goutieres syndrome 5 [RCV001048091]	uncertain significance	20	36912534	36912534	Human	2	name
28901187	CV886066	single nucleotide variant	NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly)	Aicardi-Goutieres syndrome 5 [RCV001143072]\|Chilblain lupus 2 [RCV001143073]	uncertain significance	20	36904216	36904216	Human	2	name
28888237	CV886067	single nucleotide variant	NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)	Aicardi Goutieres syndrome [RCV001833718]\|Aicardi-Goutieres syndrome 5 [RCV001138330]\|Chilblain lupus 2 [RCV001138329]	benign\|uncertain significance	20	36905449	36905449	Human	3	name
28889572	CV886068	single nucleotide variant	NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys)	Aicardi-Goutieres syndrome 5 [RCV001138747]\|Chilblain lupus 2 [RCV001138748]\|not provided [RCV003433024]	uncertain significance	20	36916769	36916769	Human	2	name
8637292	CV92518	single nucleotide variant	NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)	Aicardi Goutieres syndrome [RCV002509198]\|Aicardi-Goutieres syndrome 5 [RCV001389675]	pathogenic\|likely pathogenic\|not provided	20	36897917	36897917	Human	2	name
8637293	CV92519	single nucleotide variant	NM_015474.3(SAMHD1):c.1541C>T (p.Pro514Leu)	Malignant melanoma [RCV000072617]	not provided	20	36898507	36898507	Human		name
38481313	CV929174	single nucleotide variant	NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu)	Aicardi-Goutieres syndrome 5 [RCV001217951]	uncertain significance	20	36897894	36897894	Human	1	name
38487179	CV929175	single nucleotide variant	NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro)	Aicardi-Goutieres syndrome 5 [RCV001220647]	uncertain significance	20	36904177	36904177	Human	1	name
38472413	CV951087	single nucleotide variant	NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys)	Aicardi Goutieres syndrome [RCV001828847]\|Aicardi-Goutieres syndrome 5 [RCV001231507]	uncertain significance	20	36911266	36911266	Human	2	name
38471257	CV958830	single nucleotide variant	NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met)	Aicardi Goutieres syndrome [RCV001835340]\|Aicardi-Goutieres syndrome 5 [RCV001248607]	likely benign\|uncertain significance	20	36904189	36904189	Human	2	name
40906553	CV980019	single nucleotide variant	NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu)	Aicardi Goutieres syndrome [RCV001279952]	uncertain significance	20	36897843	36897843	Human	1	name
126726329	CV998999	single nucleotide variant	NM_015474.4(SAMHD1):c.1511A>C (p.Asn504Thr)	Aicardi-Goutieres syndrome 5 [RCV001302854]	uncertain significance	20	36898537	36898537	Human	1	name
38500022	CV958834	duplication	NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs)	Aicardi-Goutieres syndrome 5 [RCV001245426]	pathogenic	20	36951488	36951489	Human	1	name
39456361	CV965449	deletion	NM_015474.4(SAMHD1):c.130_134del (p.Thr44fs)	Aicardi-Goutieres syndrome 5 [RCV001254922]	uncertain significance	20	36951510	36951514	Human	1	name
127248846	CV1064822	deletion	NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs)	Aicardi-Goutieres syndrome 5 [RCV001384991]\|not provided [RCV001840806]	pathogenic	20	36930808	36930817	Human	1	name
151859499	CV1484707	indel	NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT	Aicardi-Goutieres syndrome 5 [RCV001959037]	pathogenic	20	36930564	36930783	Human		name
151828521	CV1510156	deletion	NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs)	Aicardi-Goutieres syndrome 5 [RCV001920261]	pathogenic	20	36927231	36927240	Human	1	name
156368431	CV1909587	microsatellite	NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del)	Aicardi-Goutieres syndrome 5 [RCV002602989]	uncertain significance	20	36919496	36919498	Human		name
156080248	CV2158388	deletion	NM_015474.4(SAMHD1):c.124_126del (p.Tyr42del)	Aicardi-Goutieres syndrome 5 [RCV003037856]	uncertain significance	20	36951518	36951520	Human	1	name
405030844	CV3008425	duplication	NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)	Aicardi-Goutieres syndrome 5 [RCV003608848]	pathogenic	20	36935059	36935060	Human	1	name
405032930	CV3024746	duplication	NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)	Aicardi-Goutieres syndrome 5 [RCV003609021]\|Aicardi-Goutieres syndrome 5 [RCV005030194]	pathogenic\|likely pathogenic	20	36916956	36916957	Human	1	name
405143851	CV3141377	microsatellite	NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)	Aicardi-Goutieres syndrome 5 [RCV003839493]	pathogenic	20	36917039	36917040	Human		name
597651856	CV3720734	deletion	NM_015474.4(SAMHD1):c.664_673del (p.Ile222fs)	Aicardi-Goutieres syndrome 5 [RCV005026931]\|Aicardi-Goutieres syndrome 5 [RCV005112791]	pathogenic\|likely pathogenic	20	36927205	36927214	Human	1	name
597882215	CV3783813	duplication	NM_015474.4(SAMHD1):c.527_530dup (p.Cys177fs)	Aicardi-Goutieres syndrome 5 [RCV005124309]	pathogenic	20	36930854	36930855	Human	1	name
14705560	CV648657	duplication	NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs)	Aicardi-Goutieres syndrome 5 [RCV000791724]	pathogenic	20	36935042	36935043	Human	1	name
21072254	CV788937	deletion	NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)	Aicardi-Goutieres syndrome 5 [RCV000985137]\|Aicardi-Goutieres syndrome 5 [RCV005029544]\|not provided [RCV001092537]	pathogenic\|likely pathogenic	20	36927231	36927232	Human	1	name
8654435	CV131946	insertion	NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs)	Aicardi-Goutieres syndrome 5 [RCV000114354]	pathogenic	20	36927228	36927229	Human	1	name
151887221	CV1464498	deletion	NM_015474.4(SAMHD1):c.1444_1453del (p.Ser482fs)	Aicardi-Goutieres syndrome 5 [RCV001942341]	pathogenic	20	36904207	36904216	Human	1	name
156324960	CV1871111	deletion	NM_015474.4(SAMHD1):c.1401_1406del (p.466IK[1])	Aicardi-Goutieres syndrome 5 [RCV003063336]\|not specified [RCV005059142]	uncertain significance	20	36905368	36905373	Human	1	name
156069186	CV1928039	microsatellite	NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)	Aicardi-Goutieres syndrome 5 [RCV002638544]\|Aicardi-Goutieres syndrome 5 [RCV005028309]	likely pathogenic\|uncertain significance	20	36897886	36897887	Human		name
156295906	CV2065312	duplication	NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs)	Aicardi-Goutieres syndrome 5 [RCV002856939]	pathogenic	20	36912503	36912504	Human	1	name
156221047	CV2083988	duplication	NM_015474.4(SAMHD1):c.1433_1434dup (p.Glu479fs)	Aicardi-Goutieres syndrome 5 [RCV002875869]	pathogenic	20	36904225	36904226	Human	1	name
156117100	CV2150612	deletion	NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs)	Aicardi-Goutieres syndrome 5 [RCV003021649]	pathogenic	20	36898535	36898536	Human	1	name
329847020	CV2524106	deletion	NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)	Aicardi Goutieres syndrome [RCV003226812]	likely pathogenic	20	36905449	36905452	Human	1	name
597919882	CV3765046	duplication	NM_015474.4(SAMHD1):c.1254_1257dup (p.Thr420fs)	Aicardi-Goutieres syndrome 5 [RCV005115062]	pathogenic	20	36911230	36911231	Human	1	name
38481232	CV929176	deletion	NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs)	Aicardi-Goutieres syndrome 5 [RCV001217916]	pathogenic	20	36912509	36912510	Human	1	name
597966802	CV3794326	insertion	NM_015474.4(SAMHD1):c.912_913insGGGA (p.Arg305fs)	Aicardi-Goutieres syndrome 5 [RCV005140502]	pathogenic	20	36916989	36916990	Human	1	name
127263873	CV1064819	deletion	NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer)	Aicardi-Goutieres syndrome 5 [RCV001381077]	pathogenic	20	36904241	36904241	Human	1	name
150464272	CV1276356	insertion	NM_015474.4(SAMHD1):c.1503+114_1503+115insAAGAAGTCATC	not provided [RCV001710301]	benign	20	36904042	36904043	Human		name
8654432	CV131943	deletion	NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del)	Aicardi-Goutieres syndrome 5 [RCV000114351]	pathogenic\|not provided	20	36935168	36935179	Human	1	name
151748766	CV1478905	indel	NM_015474.4(SAMHD1):c.1208_1209delinsAT (p.Gly403Asp)	Aicardi-Goutieres syndrome 5 [RCV002023147]	uncertain significance	20	36911279	36911280	Human		name
402464551	CV2860452	deletion	NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer)	Aicardi-Goutieres syndrome 5 [RCV003502795]	pathogenic	20	36898495	36898496	Human	1	name
402465616	CV2914061	deletion	NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer)	Aicardi-Goutieres syndrome 5 [RCV003503054]	pathogenic	20	36911309	36911319	Human	1	name
405033302	CV3013865	deletion	NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)	Aicardi-Goutieres syndrome 5 [RCV003608987]	pathogenic	20	36911307	36911308	Human	1	name
38470879	CV938969	deletion	NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer)	Aicardi-Goutieres syndrome 5 [RCV001213659]	pathogenic	20	36916756	36916762	Human	1	name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message