Uba1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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656 records found for search term Uba1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28886477	CV903063	single nucleotide variant	NM_003334.4(UBA1):c.-45C>T	Infantile-onset X-linked spinal muscular atrophy [RCV001169074]	uncertain significance	X	47193980	47193980	Human	1	name
11626561	CV352251	single nucleotide variant	NM_003334.4(UBA1):c.-178G>A	Infantile-onset X-linked spinal muscular atrophy [RCV000265712]	uncertain significance	X	47193847	47193847	Human	1	name
11631193	CV352256	single nucleotide variant	NM_003334.4(UBA1):c.*123C>T	Infantile-onset X-linked spinal muscular atrophy [RCV000370928]	uncertain significance	X	47215052	47215052	Human	1	name
127236422	CV1108401	single nucleotide variant	NM_003334.4(UBA1):c.588-7T>C	Infantile-onset X-linked spinal muscular atrophy [RCV001422502]	likely benign	X	47201269	47201269	Human	1	name
150436700	CV1286412	single nucleotide variant	NM_003334.4(UBA1):c.1-258A>G	not provided [RCV001724488]	benign	X	47198545	47198545	Human		name
150520227	CV1288215	single nucleotide variant	NM_003334.4(UBA1):c.118-1G>C	Infantile-onset X-linked spinal muscular atrophy [RCV003771873]\|VEXAS syndrome [RCV001726683]	pathogenic\|uncertain significance	X	47199047	47199047	Human	2	name
151885805	CV1340972	single nucleotide variant	NM_003334.4(UBA1):c.118-2A>C	Infantile-onset X-linked spinal muscular atrophy [RCV001962623]	uncertain significance	X	47199046	47199046	Human	1	name
151860403	CV1385963	single nucleotide variant	NM_003334.4(UBA1):c.587+3G>A	Infantile-onset X-linked spinal muscular atrophy [RCV001905201]	uncertain significance	X	47201003	47201003	Human	1	name
156053820	CV1928605	single nucleotide variant	NM_003334.4(UBA1):c.909+9G>T	Infantile-onset X-linked spinal muscular atrophy [RCV002620700]	likely benign	X	47202262	47202262	Human	1	name
155961807	CV2080498	single nucleotide variant	NM_003334.4(UBA1):c.678+6G>A	Infantile-onset X-linked spinal muscular atrophy [RCV002862894]\|UBA1-related disorder [RCV003926453]	likely benign\|uncertain significance	X	47201372	47201372	Human	1	name , trait , alternate_id
156296127	CV2179473	single nucleotide variant	NM_003334.4(UBA1):c.480+9G>A	Infantile-onset X-linked spinal muscular atrophy [RCV003027881]	likely benign	X	47199623	47199623	Human	1	name
404982601	CV2849135	single nucleotide variant	NM_003334.4(UBA1):c.1-555A>G	not specified [RCV003489007]	benign	X	47198248	47198248	Human		name
402510673	CV2860999	single nucleotide variant	NM_003334.4(UBA1):c.588-4A>C	Infantile-onset X-linked spinal muscular atrophy [RCV003509923]	likely benign	X	47201272	47201272	Human	1	name
402465239	CV2968931	single nucleotide variant	NM_003334.4(UBA1):c.678+4A>T	Infantile-onset X-linked spinal muscular atrophy [RCV003622606]	uncertain significance	X	47201370	47201370	Human	1	name
11629182	CV352254	single nucleotide variant	NM_003334.4(UBA1):c.811+9C>G	Infantile-onset X-linked spinal muscular atrophy [RCV000317636]\|not provided [RCV000714143]\|not specified [RCV000418622]	benign	X	47201619	47201619	Human	1	name
597943128	CV3757916	duplication	NM_003334.4(UBA1):c.346-4dup	Infantile-onset X-linked spinal muscular atrophy [RCV005077915]	likely benign	X	47199475	47199476	Human	1	name
12834958	CV380060	single nucleotide variant	NM_003334.4(UBA1):c.812-4G>A	Infantile-onset X-linked spinal muscular atrophy [RCV001520697]\|UBA1-related disorder [RCV003970197]\|not specified [RCV000420848]	benign\|likely benign	X	47202152	47202152	Human	1	name , trait , alternate_id
597937666	CV3862748	single nucleotide variant	NM_003334.4(UBA1):c.812-4G>T	Infantile-onset X-linked spinal muscular atrophy [RCV005208020]	likely benign	X	47202152	47202152	Human	1	name
13541831	CV508674	single nucleotide variant	NM_003334.4(UBA1):c.117+9C>T	Infantile-onset X-linked spinal muscular atrophy [RCV000952110]\|not specified [RCV000616698]	benign\|likely benign	X	47198928	47198928	Human	1	name
13609708	CV534870	single nucleotide variant	NM_003334.4(UBA1):c.346-3C>A	Infantile-onset X-linked spinal muscular atrophy [RCV000640824]\|not provided [RCV001637108]	benign	X	47199477	47199477	Human	1	name
13609701	CV534980	single nucleotide variant	NM_003334.4(UBA1):c.910-8C>T	Infantile-onset X-linked spinal muscular atrophy [RCV000640820]	likely benign	X	47202350	47202350	Human	1	name
14706732	CV653457	single nucleotide variant	NM_003334.4(UBA1):c.910-9C>G	Infantile-onset X-linked spinal muscular atrophy [RCV000804674]\|not provided [RCV004693312]	uncertain significance	X	47202349	47202349	Human	1	name
15123792	CV760963	single nucleotide variant	NM_003334.4(UBA1):c.812-8C>T	Infantile-onset X-linked spinal muscular atrophy [RCV001401067]	likely benign	X	47202148	47202148	Human	1	name
15175656	CV776803	single nucleotide variant	NM_003334.4(UBA1):c.910-7G>A	Infantile-onset X-linked spinal muscular atrophy [RCV001392299]	likely benign	X	47202351	47202351	Human	1	name
127270503	CV1086705	single nucleotide variant	NM_003334.4(UBA1):c.1234-9C>T	Infantile-onset X-linked spinal muscular atrophy [RCV001405024]	likely benign	X	47202934	47202934	Human	1	name
127235365	CV1086709	single nucleotide variant	NM_003334.4(UBA1):c.2554-6T>C	Inborn genetic diseases [RCV002432147]\|Infantile-onset X-linked spinal muscular atrophy [RCV001414428]	likely benign\|uncertain significance	X	47212765	47212765	Human	2	name
127283228	CV1108400	single nucleotide variant	NM_003334.4(UBA1):c.346-10A>C	Infantile-onset X-linked spinal muscular atrophy [RCV001448388]	likely benign	X	47199470	47199470	Human	1	name
127301604	CV1159668	single nucleotide variant	NM_003334.4(UBA1):c.1339-9A>G	Infantile-onset X-linked spinal muscular atrophy [RCV001514749]	benign	X	47203125	47203125	Human	1	name
152105537	CV1536753	single nucleotide variant	NM_003334.4(UBA1):c.811+18G>C	Infantile-onset X-linked spinal muscular atrophy [RCV002173663]	likely benign	X	47201628	47201628	Human	1	name
152160077	CV1544530	single nucleotide variant	NM_003334.4(UBA1):c.679-16C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002123028]	benign	X	47201462	47201462	Human	1	name
152032597	CV1546352	single nucleotide variant	NM_003334.4(UBA1):c.117+16G>A	Infantile-onset X-linked spinal muscular atrophy [RCV002124778]	benign	X	47198935	47198935	Human	1	name
152137787	CV1570723	single nucleotide variant	NM_003334.4(UBA1):c.910-14T>C	Infantile-onset X-linked spinal muscular atrophy [RCV002119946]	likely benign	X	47202344	47202344	Human	1	name
152118438	CV1594913	single nucleotide variant	NM_003334.4(UBA1):c.176+13A>G	Infantile-onset X-linked spinal muscular atrophy [RCV002197717]	benign	X	47199119	47199119	Human	1	name
152129990	CV1610454	deletion	NM_003334.4(UBA1):c.177-11del	Infantile-onset X-linked spinal muscular atrophy [RCV002136803]	benign	X	47199198	47199198	Human	1	name
152031923	CV1624561	single nucleotide variant	NM_003334.4(UBA1):c.678+18A>T	Infantile-onset X-linked spinal muscular atrophy [RCV002186799]	benign	X	47201384	47201384	Human	1	name
152114104	CV1651060	single nucleotide variant	NM_003334.4(UBA1):c.117+15C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002153434]	likely benign	X	47198934	47198934	Human	1	name
152114209	CV1659590	single nucleotide variant	NM_003334.4(UBA1):c.2940+4A>G	Infantile-onset X-linked spinal muscular atrophy [RCV002080665]	likely benign	X	47214432	47214432	Human	1	name
156238184	CV1882262	single nucleotide variant	NM_003334.4(UBA1):c.1420-5C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003085643]	likely benign	X	47203536	47203536	Human	1	name
156239515	CV1882352	single nucleotide variant	NM_003334.4(UBA1):c.2839-4G>A	Infantile-onset X-linked spinal muscular atrophy [RCV003085689]	likely benign	X	47214323	47214323	Human	1	name
156272786	CV2004232	single nucleotide variant	NM_003334.4(UBA1):c.346-16C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002646587]	likely benign	X	47199464	47199464	Human	1	name
156077363	CV2011850	single nucleotide variant	NM_003334.4(UBA1):c.588-20C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002705876]	likely benign	X	47201256	47201256	Human	1	name
155922822	CV2024014	single nucleotide variant	NM_003334.4(UBA1):c.1575+9G>C	Infantile-onset X-linked spinal muscular atrophy [RCV002750794]	likely benign	X	47203705	47203705	Human	1	name
156185355	CV2086520	single nucleotide variant	NM_003334.4(UBA1):c.177-13C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002851965]	benign	X	47199196	47199196	Human	1	name
401797606	CV2741019	single nucleotide variant	NM_003334.4(UBA1):c.1575+5G>A	not provided [RCV003322183]	uncertain significance	X	47203701	47203701	Human		name
401926866	CV2821594	single nucleotide variant	NM_003334.4(UBA1):c.1-2333G>A	not provided [RCV003438178]	likely benign	X	47196470	47196470	Human		name
402525378	CV2885510	single nucleotide variant	NM_003334.4(UBA1):c.588-13C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003511175]	likely benign	X	47201263	47201263	Human	1	name
404980119	CV2887017	single nucleotide variant	NM_003334.4(UBA1):c.345+20T>C	Infantile-onset X-linked spinal muscular atrophy [RCV003511347]	likely benign	X	47199397	47199397	Human	1	name
402505648	CV2906438	deletion	NM_003334.4(UBA1):c.587+21del	Infantile-onset X-linked spinal muscular atrophy [RCV003509216]	benign	X	47201019	47201019	Human	1	name
402513866	CV2921892	single nucleotide variant	NM_003334.4(UBA1):c.1742-3C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003510141]	uncertain significance	X	47206245	47206245	Human	1	name
405167464	CV2948153	single nucleotide variant	NM_003334.4(UBA1):c.118-10C>G	Infantile-onset X-linked spinal muscular atrophy [RCV003621820]	likely benign	X	47199038	47199038	Human	1	name
402464979	CV2971939	single nucleotide variant	NM_003334.4(UBA1):c.345+11C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003622563]	likely benign	X	47199388	47199388	Human	1	name
402464838	CV2974676	single nucleotide variant	NM_003334.4(UBA1):c.811+17G>A	Infantile-onset X-linked spinal muscular atrophy [RCV003622533]	likely benign	X	47201627	47201627	Human	1	name
402466729	CV2999359	single nucleotide variant	NM_003334.4(UBA1):c.2199+8C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003622990]	likely benign	X	47210131	47210131	Human	1	name
402468107	CV3014375	single nucleotide variant	NM_003334.4(UBA1):c.2465-5T>C	Infantile-onset X-linked spinal muscular atrophy [RCV003623354]	likely benign	X	47212419	47212419	Human	1	name
405170430	CV3068308	single nucleotide variant	NM_003334.4(UBA1):c.2554-6T>A	Infantile-onset X-linked spinal muscular atrophy [RCV003622063]	likely benign	X	47212765	47212765	Human	1	name
405171072	CV3069504	single nucleotide variant	NM_003334.4(UBA1):c.2004-6T>C	Infantile-onset X-linked spinal muscular atrophy [RCV003622145]	likely benign	X	47209922	47209922	Human	1	name
402464319	CV3080577	single nucleotide variant	NM_003334.4(UBA1):c.1233+9G>A	Infantile-onset X-linked spinal muscular atrophy [RCV003622375]	uncertain significance	X	47202823	47202823	Human	1	name
405196379	CV3146617	single nucleotide variant	NM_003334.4(UBA1):c.679-16C>G	Infantile-onset X-linked spinal muscular atrophy [RCV003843972]	likely benign	X	47201462	47201462	Human	1	name
405230717	CV3153924	single nucleotide variant	NM_003334.4(UBA1):c.2464+7G>T	Infantile-onset X-linked spinal muscular atrophy [RCV003848792]	uncertain significance	X	47211232	47211232	Human	1	name
405252292	CV3177889	single nucleotide variant	NM_003334.4(UBA1):c.909+11C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003870669]	likely benign	X	47202264	47202264	Human	1	name
405271680	CV3202911	single nucleotide variant	NM_003334.4(UBA1):c.2646+3G>A	Infantile-onset X-linked spinal muscular atrophy [RCV005064796]\|UBA1-related disorder [RCV003913971]	benign\|likely benign	X	47212866	47212866	Human	1	name , trait , alternate_id
11621889	CV339255	single nucleotide variant	NM_003334.4(UBA1):c.2838+8C>T	Infantile-onset X-linked spinal muscular atrophy [RCV000353809]	uncertain significance	X	47213189	47213189	Human	1	name
11612646	CV339257	single nucleotide variant	NM_003334.4(UBA1):c.2839-7C>T	Infantile-onset X-linked spinal muscular atrophy [RCV000261437]	benign\|uncertain significance	X	47214320	47214320	Human	1	name
11628396	CV348780	deletion	NM_003334.4(UBA1):c.2838+7del	Infantile-onset X-linked spinal muscular atrophy [RCV000301252]	uncertain significance	X	47213184	47213184	Human	1	name
11631237	CV352869	single nucleotide variant	NM_003334.4(UBA1):c.909+12G>A	Infantile-onset X-linked spinal muscular atrophy [RCV000372246]	benign\|likely benign	X	47202265	47202265	Human	1	name
597845728	CV3736368	single nucleotide variant	NM_003334.4(UBA1):c.2839-4G>T	Infantile-onset X-linked spinal muscular atrophy [RCV005059946]	likely benign	X	47214323	47214323	Human	1	name
597926521	CV3778507	single nucleotide variant	NM_003334.4(UBA1):c.1420-6T>G	Infantile-onset X-linked spinal muscular atrophy [RCV005131030]	likely benign	X	47203535	47203535	Human	1	name
597926601	CV3778517	single nucleotide variant	NM_003334.4(UBA1):c.2200-8T>A	Infantile-onset X-linked spinal muscular atrophy [RCV005131040]	likely benign	X	47210834	47210834	Human	1	name
12834003	CV379298	single nucleotide variant	NM_003334.4(UBA1):c.176+18C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002521838]\|not specified [RCV000419569]	likely benign	X	47199124	47199124	Human	1	name
597924442	CV3808644	single nucleotide variant	NM_003334.4(UBA1):c.678+10C>T	Infantile-onset X-linked spinal muscular atrophy [RCV005156158]	likely benign	X	47201376	47201376	Human	1	name
597946917	CV3817795	single nucleotide variant	NM_003334.4(UBA1):c.812-14C>G	Infantile-onset X-linked spinal muscular atrophy [RCV005160262]	likely benign	X	47202142	47202142	Human	1	name
597948348	CV3818292	single nucleotide variant	NM_003334.4(UBA1):c.481-13C>T	Infantile-onset X-linked spinal muscular atrophy [RCV005160553]	likely benign	X	47200881	47200881	Human	1	name
597832877	CV3831376	single nucleotide variant	NM_003334.4(UBA1):c.1338+4T>C	Infantile-onset X-linked spinal muscular atrophy [RCV005170579]	uncertain significance	X	47203051	47203051	Human	1	name
597915815	CV3845657	single nucleotide variant	NM_003334.4(UBA1):c.1057-6C>T	Infantile-onset X-linked spinal muscular atrophy [RCV005183452]	likely benign	X	47202632	47202632	Human	1	name
597863258	CV3860678	single nucleotide variant	NM_003334.4(UBA1):c.811+15T>C	Infantile-onset X-linked spinal muscular atrophy [RCV005196206]	likely benign	X	47201625	47201625	Human	1	name
13466655	CV472156	single nucleotide variant	NM_003334.4(UBA1):c.1420-8C>T	Infantile-onset X-linked spinal muscular atrophy [RCV000552081]\|not provided [RCV003437255]	likely benign	X	47203533	47203533	Human	1	name
13525914	CV508115	single nucleotide variant	NM_003334.4(UBA1):c.480+19C>G	Infantile-onset X-linked spinal muscular atrophy [RCV002065417]\|not specified [RCV000603537]	benign\|likely benign	X	47199633	47199633	Human	1	name
13526807	CV508275	single nucleotide variant	NM_003334.4(UBA1):c.176+15G>A	not specified [RCV000604635]	likely benign	X	47199121	47199121	Human		name
14715494	CV671160	single nucleotide variant	NM_003334.4(UBA1):c.679-33C>G	Infantile-onset X-linked spinal muscular atrophy [RCV002245698]\|not provided [RCV000829408]\|not specified [RCV003489921]	benign	X	47201445	47201445	Human	1	name
15097654	CV760866	single nucleotide variant	NM_003334.4(UBA1):c.118-10C>T	Infantile-onset X-linked spinal muscular atrophy [RCV000914059]	likely benign	X	47199038	47199038	Human	1	name
15118605	CV760965	single nucleotide variant	NM_003334.4(UBA1):c.2554-8C>T	not provided [RCV000918005]	likely benign	X	47212763	47212763	Human		name
15138459	CV776918	single nucleotide variant	NM_003334.4(UBA1):c.117+10C>T	Infantile-onset X-linked spinal muscular atrophy [RCV001450293]	likely benign	X	47198929	47198929	Human	1	name
15154118	CV778703	single nucleotide variant	NM_003334.4(UBA1):c.1233+8C>T	Infantile-onset X-linked spinal muscular atrophy [RCV000946223]	likely benign	X	47202822	47202822	Human	1	name
15104093	CV788364	single nucleotide variant	NM_003334.4(UBA1):c.2275-7C>T	Infantile-onset X-linked spinal muscular atrophy [RCV001514263]	benign	X	47211029	47211029	Human	1	name
28886745	CV903477	single nucleotide variant	NM_003334.4(UBA1):c.2839-3C>T	Infantile-onset X-linked spinal muscular atrophy [RCV001169149]	uncertain significance	X	47214324	47214324	Human	1	name
150425186	CV1185814	single nucleotide variant	NM_003334.4(UBA1):c.480+165C>T	not provided [RCV001557676]	likely benign	X	47199779	47199779	Human		name
150429006	CV1189117	single nucleotide variant	NM_003334.4(UBA1):c.1939-82C>T	not provided [RCV001563026]	likely benign	X	47209541	47209541	Human		name
150507877	CV1213884	single nucleotide variant	NM_003334.4(UBA1):c.480+313C>G	not provided [RCV001596405]	likely benign	X	47199927	47199927	Human		name
150508027	CV1213922	single nucleotide variant	NM_003334.4(UBA1):c.811+189G>A	not provided [RCV001596443]	likely benign	X	47201799	47201799	Human		name
150514171	CV1228089	single nucleotide variant	NM_003334.4(UBA1):c.480+271C>G	not provided [RCV001638367]	benign	X	47199885	47199885	Human		name
150515617	CV1285602	duplication	NM_003334.4(UBA1):c.1575+68dup	not provided [RCV001723055]	benign	X	47203747	47203748	Human		name
150504678	CV1286005	single nucleotide variant	NM_003334.4(UBA1):c.1575+51C>T	not provided [RCV001719428]	benign	X	47203747	47203747	Human		name
152084148	CV1533424	single nucleotide variant	NM_003334.4(UBA1):c.1420-18T>G	Infantile-onset X-linked spinal muscular atrophy [RCV002093245]	likely benign	X	47203523	47203523	Human	1	name
152077035	CV1536317	single nucleotide variant	NM_003334.4(UBA1):c.1576-19C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002148821]	likely benign	X	47205929	47205929	Human	1	name
152031746	CV1629231	single nucleotide variant	NM_003334.4(UBA1):c.2838+17G>A	Infantile-onset X-linked spinal muscular atrophy [RCV002106225]	likely benign	X	47213198	47213198	Human	1	name
152126022	CV1630360	single nucleotide variant	NM_003334.4(UBA1):c.2465-17T>C	Infantile-onset X-linked spinal muscular atrophy [RCV002154883]	likely benign	X	47212407	47212407	Human	1	name
152114383	CV1659623	single nucleotide variant	NM_003334.4(UBA1):c.2646+11T>A	Infantile-onset X-linked spinal muscular atrophy [RCV002080689]	benign	X	47212874	47212874	Human	1	name
152100406	CV1664122	single nucleotide variant	NM_003334.4(UBA1):c.1576-20G>A	Infantile-onset X-linked spinal muscular atrophy [RCV002078912]	likely benign	X	47205928	47205928	Human	1	name
152030042	CV1664960	single nucleotide variant	NM_003334.4(UBA1):c.1420-18T>C	Infantile-onset X-linked spinal muscular atrophy [RCV002105796]	likely benign	X	47203523	47203523	Human	1	name
155642537	CV1706290	deletion	NM_003334.4(UBA1):c.1575+68del	not provided [RCV002287154]	likely benign	X	47203748	47203748	Human		name
155964207	CV1881947	single nucleotide variant	NM_003334.4(UBA1):c.2838+16C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003074845]\|not specified [RCV003994494]	likely benign	X	47213197	47213197	Human	1	name
156322517	CV1885867	single nucleotide variant	NM_003334.4(UBA1):c.1741+20A>G	Infantile-onset X-linked spinal muscular atrophy [RCV003089261]	likely benign	X	47206133	47206133	Human	1	name
156371881	CV1923642	single nucleotide variant	NM_003334.4(UBA1):c.2275-17G>A	Infantile-onset X-linked spinal muscular atrophy [RCV002633462]	benign	X	47211019	47211019	Human	1	name
156166535	CV1930001	single nucleotide variant	NM_003334.4(UBA1):c.1234-18C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002624570]	likely benign	X	47202925	47202925	Human	1	name
156106710	CV2038546	single nucleotide variant	NM_003334.4(UBA1):c.2199+17G>C	Infantile-onset X-linked spinal muscular atrophy [RCV002761522]	likely benign	X	47210140	47210140	Human	1	name
155915573	CV2063130	single nucleotide variant	NM_003334.4(UBA1):c.1338+15C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002838034]	likely benign	X	47203062	47203062	Human	1	name
156041753	CV2089678	single nucleotide variant	NM_003334.4(UBA1):c.1233+20G>C	Infantile-onset X-linked spinal muscular atrophy [RCV002867467]	benign	X	47202834	47202834	Human	1	name
156031808	CV2142093	single nucleotide variant	NM_003334.4(UBA1):c.1339-17C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002976638]	likely benign	X	47203117	47203117	Human	1	name
405173469	CV2853465	single nucleotide variant	NM_003334.4(UBA1):c.1576-14T>C	not provided [RCV003542524]	uncertain significance	X	47205934	47205934	Human		name
404979982	CV2892757	single nucleotide variant	NM_003334.4(UBA1):c.1056+20A>G	Infantile-onset X-linked spinal muscular atrophy [RCV003511258]	likely benign	X	47202524	47202524	Human	1	name
402514447	CV2925895	single nucleotide variant	NM_003334.4(UBA1):c.2003+11C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003510252]	likely benign	X	47209698	47209698	Human	1	name
402464588	CV2962288	single nucleotide variant	NM_003334.4(UBA1):c.1741+15G>A	Infantile-onset X-linked spinal muscular atrophy [RCV003622440]	uncertain significance	X	47206128	47206128	Human	1	name
402468606	CV3026681	single nucleotide variant	NM_003334.4(UBA1):c.1233+15G>A	Infantile-onset X-linked spinal muscular atrophy [RCV003623486]	likely benign	X	47202829	47202829	Human	1	name
402469693	CV3047676	single nucleotide variant	NM_003334.4(UBA1):c.2003+10T>C	Infantile-onset X-linked spinal muscular atrophy [RCV003623778]	benign	X	47209697	47209697	Human	1	name
405171153	CV3058912	single nucleotide variant	NM_003334.4(UBA1):c.1742-19C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003622109]	likely benign	X	47206229	47206229	Human	1	name
405169727	CV3067332	single nucleotide variant	NM_003334.4(UBA1):c.2839-20C>A	Infantile-onset X-linked spinal muscular atrophy [RCV003621997]	likely benign	X	47214307	47214307	Human	1	name
402464264	CV3074675	single nucleotide variant	NM_003334.4(UBA1):c.2274+14C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003622355]	likely benign	X	47210930	47210930	Human	1	name
405172794	CV3079604	single nucleotide variant	NM_003334.4(UBA1):c.2274+14C>G	Infantile-onset X-linked spinal muscular atrophy [RCV003622285]	likely benign	X	47210930	47210930	Human	1	name
402464758	CV3177121	single nucleotide variant	NM_003334.4(UBA1):c.1939-10C>G	Infantile-onset X-linked spinal muscular atrophy [RCV003872752]	likely benign	X	47209613	47209613	Human	1	name
402510333	CV3178290	single nucleotide variant	NM_003334.4(UBA1):c.2274+10C>T	Infantile-onset X-linked spinal muscular atrophy [RCV003878907]	likely benign	X	47210926	47210926	Human	1	name
405001806	CV3184075	single nucleotide variant	NM_003334.4(UBA1):c.1939-18T>C	Infantile-onset X-linked spinal muscular atrophy [RCV003882658]	likely benign	X	47209605	47209605	Human	1	name
11621113	CV339252	single nucleotide variant	NM_003334.4(UBA1):c.1742-11G>C	Infantile-onset X-linked spinal muscular atrophy [RCV000344795]\|not provided [RCV004713892]\|not specified [RCV000424315]	benign	X	47206237	47206237	Human	1	name
11631895	CV348775	single nucleotide variant	NM_003334.4(UBA1):c.2004-13C>T	Infantile-onset X-linked spinal muscular atrophy [RCV000392412]\|not provided [RCV001643122]	benign\|likely benign	X	47209915	47209915	Human	1	name
597936408	CV3764840	single nucleotide variant	NM_003334.4(UBA1):c.3042-10C>T	Infantile-onset X-linked spinal muscular atrophy [RCV005117539]	likely benign	X	47214784	47214784	Human	1	name
597878151	CV3776248	single nucleotide variant	NM_003334.4(UBA1):c.2465-11T>C	Infantile-onset X-linked spinal muscular atrophy [RCV005123776]	likely benign	X	47212413	47212413	Human	1	name
12833486	CV379419	single nucleotide variant	NM_003334.4(UBA1):c.1742-18G>A	Infantile-onset X-linked spinal muscular atrophy [RCV002059616]\|not provided [RCV004713966]\|not specified [RCV000418600]	benign	X	47206230	47206230	Human	1	name
597887904	CV3804385	deletion	NM_003334.4(UBA1):c.3042-10del	Infantile-onset X-linked spinal muscular atrophy [RCV005150836]	benign	X	47214780	47214780	Human	1	name
597856422	CV3816572	single nucleotide variant	NM_003334.4(UBA1):c.1056+14C>T	Infantile-onset X-linked spinal muscular atrophy [RCV005146145]	likely benign	X	47202518	47202518	Human	1	name
597839646	CV3825025	single nucleotide variant	NM_003334.4(UBA1):c.1234-14C>T	Infantile-onset X-linked spinal muscular atrophy [RCV005171889]	likely benign	X	47202929	47202929	Human	1	name
597833908	CV3827712	duplication	NM_003334.4(UBA1):c.1338+23dup	Infantile-onset X-linked spinal muscular atrophy [RCV005170802]	benign	X	47203066	47203067	Human	1	name
597946727	CV3841725	single nucleotide variant	NM_003334.4(UBA1):c.2838+15C>T	Infantile-onset X-linked spinal muscular atrophy [RCV005189159]	likely benign	X	47213196	47213196	Human	1	name
597966836	CV3855649	single nucleotide variant	NM_003334.4(UBA1):c.1057-19G>T	Infantile-onset X-linked spinal muscular atrophy [RCV005194629]	likely benign	X	47202619	47202619	Human	1	name
13536447	CV508120	single nucleotide variant	NM_003334.4(UBA1):c.1233+13G>A	Infantile-onset X-linked spinal muscular atrophy [RCV002065407]\|not specified [RCV000609019]	benign\|likely benign	X	47202827	47202827	Human	1	name
13527151	CV508121	single nucleotide variant	NM_003334.4(UBA1):c.2003+12G>A	Infantile-onset X-linked spinal muscular atrophy [RCV002066540]\|not specified [RCV000599645]	benign\|likely benign	X	47209699	47209699	Human	1	name
13527772	CV508124	single nucleotide variant	NM_003334.4(UBA1):c.2941-14C>T	Infantile-onset X-linked spinal muscular atrophy [RCV002062870]\|not specified [RCV000599871]	benign\|likely benign	X	47214523	47214523	Human	1	name
14722445	CV670104	single nucleotide variant	NM_003334.4(UBA1):c.1575+24C>G	not provided [RCV000832103]	likely benign	X	47203720	47203720	Human		name
14726193	CV670105	single nucleotide variant	NM_003334.4(UBA1):c.1938+60G>A	not provided [RCV000833762]	benign	X	47206504	47206504	Human		name
14726187	CV670935	single nucleotide variant	NM_003334.4(UBA1):c.1233+43T>G	not provided [RCV000833760]	benign	X	47202857	47202857	Human		name
14738201	CV670938	single nucleotide variant	NM_003334.4(UBA1):c.1419+92C>T	not provided [RCV000839285]	likely benign	X	47203306	47203306	Human		name
14726190	CV671056	single nucleotide variant	NM_003334.4(UBA1):c.1742-58C>T	not provided [RCV000833761]	benign	X	47206190	47206190	Human		name
14726228	CV671058	single nucleotide variant	NM_003334.4(UBA1):c.2839-75A>G	not provided [RCV000833777]	benign	X	47214252	47214252	Human		name
14726185	CV671161	single nucleotide variant	NM_003334.4(UBA1):c.811+212A>G	not provided [RCV000833759]	benign	X	47201822	47201822	Human		name
14726223	CV671163	single nucleotide variant	NM_003334.4(UBA1):c.2004-39C>G	not provided [RCV000833775]	benign	X	47209889	47209889	Human		name
28884090	CV903475	single nucleotide variant	NM_003334.4(UBA1):c.2004-12G>A	Infantile-onset X-linked spinal muscular atrophy [RCV001168396]\|not provided [RCV001655693]	benign\|likely benign	X	47209916	47209916	Human	1	name
28884093	CV903476	single nucleotide variant	NM_003334.4(UBA1):c.2646+11T>C	Infantile-onset X-linked spinal muscular atrophy [RCV001168397]	benign\|likely benign	X	47212874	47212874	Human	1	name
150425233	CV1185815	single nucleotide variant	NM_003334.4(UBA1):c.2200-123G>T	not provided [RCV001557740]	likely benign	X	47210719	47210719	Human		name
150425268	CV1185816	single nucleotide variant	NM_003334.4(UBA1):c.2839-103A>G	not provided [RCV001557782]	likely benign	X	47214224	47214224	Human		name
150427824	CV1189118	single nucleotide variant	NM_003334.4(UBA1):c.2200-196G>T	not provided [RCV001561442]	likely benign	X	47210646	47210646	Human		name
150411271	CV1192518	single nucleotide variant	NM_003334.4(UBA1):c.2839-121G>A	not provided [RCV001566486]	likely benign	X	47214206	47214206	Human		name
150405110	CV1195772	single nucleotide variant	NM_003334.4(UBA1):c.1420-146C>T	not provided [RCV001571475]	likely benign	X	47203395	47203395	Human		name
150415136	CV1199491	single nucleotide variant	NM_003334.4(UBA1):c.1938+164C>T	not provided [RCV001575262]	likely benign	X	47206608	47206608	Human		name
150436214	CV1221805	single nucleotide variant	NM_003334.4(UBA1):c.2465-190T>A	not provided [RCV001609497]	benign	X	47212234	47212234	Human		name
401926867	CV2821595	single nucleotide variant	NM_003334.4(UBA1):c.1939-283G>C	not provided [RCV003438179]	likely benign	X	47209340	47209340	Human		name
14726226	CV670941	single nucleotide variant	NM_003334.4(UBA1):c.2838+110C>T	not provided [RCV000833776]	benign	X	47213291	47213291	Human		name
14715498	CV671162	single nucleotide variant	NM_003334.4(UBA1):c.1576-161G>A	not provided [RCV000829409]	benign	X	47205787	47205787	Human		name
151719001	CV1505773	deletion	NM_003334.4(UBA1):c.118-11_118-3del	Infantile-onset X-linked spinal muscular atrophy [RCV002039781]	uncertain significance	X	47199037	47199045	Human	1	name
405234034	CV3145150	single nucleotide variant	NM_003334.4(UBA1):c.15G>A (p.Pro5=)	Infantile-onset X-linked spinal muscular atrophy [RCV003853407]	benign	X	47198817	47198817	Human	1	name
127244602	CV1086700	single nucleotide variant	NM_003334.4(UBA1):c.93C>T (p.Ser31=)	Infantile-onset X-linked spinal muscular atrophy [RCV001393739]	likely benign	X	47198895	47198895	Human	1	name
127282006	CV1108407	deletion	NM_003334.4(UBA1):c.2647-9_2647-6del	Inborn genetic diseases [RCV002432244]\|Infantile-onset X-linked spinal muscular atrophy [RCV001447563]	likely benign\|uncertain significance	X	47212978	47212981	Human	2	name
156215076	CV1997390	single nucleotide variant	NM_003334.4(UBA1):c.72C>T (p.Ser24=)	Infantile-onset X-linked spinal muscular atrophy [RCV002666997]	likely benign	X	47198874	47198874	Human	1	name
156355909	CV2126042	deletion	NM_003334.4(UBA1):c.345+20_345+23del	Infantile-onset X-linked spinal muscular atrophy [RCV002966656]	likely benign	X	47199395	47199398	Human	1	name
156028893	CV2139344	single nucleotide variant	NM_003334.4(UBA1):c.57G>A (p.Pro19=)	Infantile-onset X-linked spinal muscular atrophy [RCV002999051]	likely benign	X	47198859	47198859	Human	1	name
402510168	CV2857792	microsatellite	NM_003334.4(UBA1):c.345+29_345+36del	Infantile-onset X-linked spinal muscular atrophy [RCV003509900]	likely benign	X	47199397	47199404	Human		name
402522567	CV2880318	single nucleotide variant	NM_003334.4(UBA1):c.75T>G (p.Pro25=)	Infantile-onset X-linked spinal muscular atrophy [RCV003510933]	likely benign	X	47198877	47198877	Human	1	name
402507098	CV2915018	deletion	NM_003334.4(UBA1):c.2554-6_2554-5del	Infantile-onset X-linked spinal muscular atrophy [RCV003509394]	likely benign	X	47212764	47212765	Human	1	name
405272642	CV3201326	deletion	NM_003334.4(UBA1):c.2275-5_2275-3del	UBA1-related disorder [RCV003901390]	likely benign	X	47211029	47211031	Human		name , trait , alternate_id
597842696	CV3752384	single nucleotide variant	NM_003334.4(UBA1):c.84C>G (p.Ser28=)	Infantile-onset X-linked spinal muscular atrophy [RCV005086790]	likely benign	X	47198886	47198886	Human	1	name
597968342	CV3794975	single nucleotide variant	NM_003334.4(UBA1):c.8G>A (p.Ser3Asn)	Infantile-onset X-linked spinal muscular atrophy [RCV005140943]	uncertain significance	X	47198810	47198810	Human	1	name
13609691	CV534998	deletion	NM_003334.4(UBA1):c.2464+6_2464+9del	Inborn genetic diseases [RCV002458055]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640815]	uncertain significance	X	47211230	47211233	Human	2	name
15191559	CV706236	single nucleotide variant	NM_003334.4(UBA1):c.84C>T (p.Ser28=)	Infantile-onset X-linked spinal muscular atrophy [RCV002066344]\|UBA1-related disorder [RCV003935841]	likely benign	X	47198886	47198886	Human	1	name , trait , alternate_id
15176520	CV717794	single nucleotide variant	NM_003334.4(UBA1):c.39C>T (p.Ser13=)	Infantile-onset X-linked spinal muscular atrophy [RCV000973205]	benign	X	47198841	47198841	Human	1	name
127307169	CV1129791	single nucleotide variant	NM_003334.4(UBA1):c.231A>G (p.Val77=)	Infantile-onset X-linked spinal muscular atrophy [RCV001462938]	likely benign	X	47199263	47199263	Human	1	name
156124765	CV2012313	single nucleotide variant	NM_003334.4(UBA1):c.261C>T (p.Ile87=)	Infantile-onset X-linked spinal muscular atrophy [RCV002696176]	benign	X	47199293	47199293	Human	1	name
243058369	CV2407125	single nucleotide variant	NM_003334.4(UBA1):c.117C>T (p.Asn39=)	Infantile-onset X-linked spinal muscular atrophy [RCV003139208]	uncertain significance	X	47198919	47198919	Human	1	name
402467313	CV3008286	single nucleotide variant	NM_003334.4(UBA1):c.153C>T (p.Asp51=)	Infantile-onset X-linked spinal muscular atrophy [RCV003623143]	likely benign	X	47199083	47199083	Human	1	name
405126350	CV3132781	single nucleotide variant	NM_003334.4(UBA1):c.264T>C (p.Ala88=)	Infantile-onset X-linked spinal muscular atrophy [RCV003837944]	likely benign	X	47199296	47199296	Human	1	name
13538717	CV508273	single nucleotide variant	NM_003334.4(UBA1):c.132C>T (p.Asn44=)	Inborn genetic diseases [RCV002384350]\|Infantile-onset X-linked spinal muscular atrophy [RCV000865082]\|not provided [RCV003437314]\|not specified [RCV000612237]	benign\|likely benign	X	47199062	47199062	Human	2	name
13609699	CV534971	single nucleotide variant	NM_003334.4(UBA1):c.210C>T (p.Leu70=)	Inborn genetic diseases [RCV002420743]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640819]	benign\|likely benign	X	47199242	47199242	Human	2	name
14743074	CV656778	single nucleotide variant	NM_003334.4(UBA1):c.246C>T (p.Gly82=)	Infantile-onset X-linked spinal muscular atrophy [RCV003509615]\|not provided [RCV000841815]	likely benign	X	47199278	47199278	Human	1	name
15158688	CV745393	deletion	NM_003334.4(UBA1):c.2464+9_2464+16del	Infantile-onset X-linked spinal muscular atrophy [RCV001398402]	likely benign	X	47211234	47211241	Human	1	name
15199578	CV758503	single nucleotide variant	NM_003334.4(UBA1):c.108G>A (p.Val36=)	not provided [RCV000912589]	likely benign	X	47198910	47198910	Human		name
15107588	CV758504	single nucleotide variant	NM_003334.4(UBA1):c.147C>T (p.Asp49=)	Infantile-onset X-linked spinal muscular atrophy [RCV001408250]	likely benign	X	47199077	47199077	Human	1	name
26891525	CV852518	deletion	NM_003334.4(UBA1):c.1939-11_1939-3del	Infantile-onset X-linked spinal muscular atrophy [RCV001046497]	likely benign\|uncertain significance	X	47209609	47209617	Human	1	name
28886484	CV903064	single nucleotide variant	NM_003334.4(UBA1):c.105G>A (p.Ser35=)	Infantile-onset X-linked spinal muscular atrophy [RCV001169075]	conflicting interpretations of pathogenicity\|uncertain significance	X	47198907	47198907	Human	1	name
127247869	CV1086701	single nucleotide variant	NM_003334.4(UBA1):c.303A>G (p.Leu101=)	Infantile-onset X-linked spinal muscular atrophy [RCV001399220]	likely benign	X	47199335	47199335	Human	1	name
127254440	CV1086703	single nucleotide variant	NM_003334.4(UBA1):c.384C>G (p.Ala128=)	Infantile-onset X-linked spinal muscular atrophy [RCV001418560]	likely benign	X	47199518	47199518	Human	1	name
127243926	CV1086704	single nucleotide variant	NM_003334.4(UBA1):c.840C>T (p.Thr280=)	Infantile-onset X-linked spinal muscular atrophy [RCV001393622]	likely benign	X	47202184	47202184	Human	1	name
127288081	CV1129792	single nucleotide variant	NM_003334.4(UBA1):c.573G>A (p.Thr191=)	Infantile-onset X-linked spinal muscular atrophy [RCV001450358]	likely benign	X	47200986	47200986	Human	1	name
127314430	CV1150807	single nucleotide variant	NM_003334.4(UBA1):c.663T>A (p.Val221=)	Infantile-onset X-linked spinal muscular atrophy [RCV001502486]	likely benign	X	47201351	47201351	Human	1	name
127301506	CV1159663	single nucleotide variant	NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)	Infantile-onset X-linked spinal muscular atrophy [RCV001514718]	benign	X	47198896	47198896	Human	1	name
150484440	CV1222494	duplication	NM_003334.4(UBA1):c.1575+67_1575+68dup	not provided [RCV001617497]	benign	X	47203747	47203748	Human		name
151734755	CV1354617	single nucleotide variant	NM_003334.4(UBA1):c.85G>A (p.Val29Met)	Infantile-onset X-linked spinal muscular atrophy [RCV001892624]	uncertain significance	X	47198887	47198887	Human	1	name
151737262	CV1422281	single nucleotide variant	NM_003334.4(UBA1):c.34G>T (p.Val12Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV001984860]	uncertain significance	X	47198836	47198836	Human	1	name
151844731	CV1438383	single nucleotide variant	NM_003334.4(UBA1):c.31C>T (p.Arg11Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV001957186]	uncertain significance	X	47198833	47198833	Human	1	name
152148341	CV1566241	single nucleotide variant	NM_003334.4(UBA1):c.750T>C (p.Phe250=)	Infantile-onset X-linked spinal muscular atrophy [RCV002139142]	likely benign	X	47201549	47201549	Human	1	name
152127805	CV1572144	microsatellite	NM_003334.4(UBA1):c.2003+22_2003+23del	Infantile-onset X-linked spinal muscular atrophy [RCV002217648]	likely benign	X	47209706	47209707	Human		name
152026442	CV1582864	single nucleotide variant	NM_003334.4(UBA1):c.501C>T (p.Thr167=)	Infantile-onset X-linked spinal muscular atrophy [RCV002084799]	likely benign	X	47200914	47200914	Human	1	name
156418058	CV1914364	single nucleotide variant	NM_003334.4(UBA1):c.822C>T (p.Thr274=)	Infantile-onset X-linked spinal muscular atrophy [RCV002611233]	likely benign	X	47202166	47202166	Human	1	name
156355108	CV1929989	microsatellite	NM_003334.4(UBA1):c.2839-13_2839-12del	Infantile-onset X-linked spinal muscular atrophy [RCV002651211]	benign	X	47214312	47214313	Human		name
156348663	CV2005411	single nucleotide variant	NM_003334.4(UBA1):c.64A>G (p.Asn22Asp)	Infantile-onset X-linked spinal muscular atrophy [RCV002650716]	uncertain significance	X	47198866	47198866	Human	1	name
156372441	CV2028196	single nucleotide variant	NM_003334.4(UBA1):c.405C>T (p.Leu135=)	Infantile-onset X-linked spinal muscular atrophy [RCV002721634]	likely benign	X	47199539	47199539	Human	1	name
155932017	CV2129211	single nucleotide variant	NM_003334.4(UBA1):c.92C>G (p.Ser31Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV002970682]	uncertain significance	X	47198894	47198894	Human	1	name
156090274	CV2135517	single nucleotide variant	NM_003334.4(UBA1):c.54G>T (p.Lys18Asn)	Infantile-onset X-linked spinal muscular atrophy [RCV003001808]	uncertain significance	X	47198856	47198856	Human	1	name
156212852	CV2142092	single nucleotide variant	NM_003334.4(UBA1):c.846C>T (p.Asn282=)	Infantile-onset X-linked spinal muscular atrophy [RCV002985663]	likely benign	X	47202190	47202190	Human	1	name
156139844	CV2177801	single nucleotide variant	NM_003334.4(UBA1):c.843C>G (p.Ser281=)	Infantile-onset X-linked spinal muscular atrophy [RCV003039996]	likely benign	X	47202187	47202187	Human	1	name
156248819	CV2192661	single nucleotide variant	NM_003334.4(UBA1):c.81G>C (p.Gln27His)	not provided [RCV003059945]	uncertain significance	X	47198883	47198883	Human		name
404977768	CV2851438	single nucleotide variant	NM_003334.4(UBA1):c.56C>T (p.Pro19Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV003486283]	uncertain significance	X	47198858	47198858	Human	1	name
402517213	CV2859141	deletion	NM_003334.4(UBA1):c.2274+10_2274+14del	Infantile-onset X-linked spinal muscular atrophy [RCV003510511]	likely benign	X	47210924	47210928	Human	1	name
404980505	CV2894280	microsatellite	NM_003334.4(UBA1):c.1234-19_1234-16del	Infantile-onset X-linked spinal muscular atrophy [RCV003511419]	likely benign	X	47202921	47202924	Human		name
402505827	CV2902983	single nucleotide variant	NM_003334.4(UBA1):c.786T>C (p.Asn262=)	Infantile-onset X-linked spinal muscular atrophy [RCV003509234]	likely benign	X	47201585	47201585	Human	1	name
405168051	CV2942337	single nucleotide variant	NM_003334.4(UBA1):c.840C>G (p.Thr280=)	Infantile-onset X-linked spinal muscular atrophy [RCV003621869]	likely benign	X	47202184	47202184	Human	1	name
405167694	CV2948523	single nucleotide variant	NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV003621839]	uncertain significance	X	47198878	47198878	Human	1	name
402466640	CV3002000	single nucleotide variant	NM_003334.4(UBA1):c.636T>C (p.Asn212=)	Infantile-onset X-linked spinal muscular atrophy [RCV003622967]	likely benign	X	47201324	47201324	Human	1	name
402467876	CV3013708	single nucleotide variant	NM_003334.4(UBA1):c.384C>T (p.Ala128=)	Infantile-onset X-linked spinal muscular atrophy [RCV003623291]	likely benign	X	47199518	47199518	Human	1	name
405175365	CV3151923	deletion	NM_003334.4(UBA1):c.2646+19_2646+20del	Infantile-onset X-linked spinal muscular atrophy [RCV003858074]	likely benign	X	47212882	47212883	Human	1	name
11629353	CV352252	single nucleotide variant	NM_003334.4(UBA1):c.351C>T (p.Tyr117=)	Inborn genetic diseases [RCV002450945]\|Infantile-onset X-linked spinal muscular atrophy [RCV000320895]	benign\|likely benign	X	47199485	47199485	Human	2	name
11626340	CV352868	single nucleotide variant	NM_003334.4(UBA1):c.720C>T (p.His240=)	Inborn genetic diseases [RCV002374611]\|Infantile-onset X-linked spinal muscular atrophy [RCV000262304]	benign\|likely benign	X	47201519	47201519	Human	2	name
597635807	CV3625662	single nucleotide variant	NM_003334.4(UBA1):c.34G>A (p.Val12Met)	Inborn genetic diseases [RCV004969718]	uncertain significance	X	47198836	47198836	Human	1	name
597830866	CV3743599	single nucleotide variant	NM_003334.4(UBA1):c.486G>C (p.Val162=)	Infantile-onset X-linked spinal muscular atrophy [RCV005062416]	likely benign	X	47200899	47200899	Human	1	name
597958715	CV3751957	single nucleotide variant	NM_003334.4(UBA1):c.432C>T (p.Val144=)	Infantile-onset X-linked spinal muscular atrophy [RCV005081087]	likely benign	X	47199566	47199566	Human	1	name
597851762	CV3803811	single nucleotide variant	NM_003334.4(UBA1):c.62C>T (p.Ser21Phe)	Infantile-onset X-linked spinal muscular atrophy [RCV005145528]	uncertain significance	X	47198864	47198864	Human	1	name
13465693	CV471882	single nucleotide variant	NM_003334.4(UBA1):c.574C>A (p.Arg192=)	Inborn genetic diseases [RCV002350272]\|Infantile-onset X-linked spinal muscular atrophy [RCV001399699]	likely benign	X	47200987	47200987	Human	2	name
13538791	CV508278	single nucleotide variant	NM_003334.4(UBA1):c.411G>A (p.Glu137=)	Inborn genetic diseases [RCV002325179]\|Infantile-onset X-linked spinal muscular atrophy [RCV002064325]\|not specified [RCV000612352]	likely benign	X	47199545	47199545	Human	2	name
13535089	CV508283	single nucleotide variant	NM_003334.4(UBA1):c.819T>C (p.Tyr273=)	Inborn genetic diseases [RCV002431786]\|Infantile-onset X-linked spinal muscular atrophy [RCV005056300]\|not specified [RCV000607535]	likely benign	X	47202163	47202163	Human	2	name
13534220	CV508576	single nucleotide variant	NM_003334.4(UBA1):c.753A>G (p.Ser251=)	Inborn genetic diseases [RCV002395599]\|Infantile-onset X-linked spinal muscular atrophy [RCV001462612]\|not provided [RCV000903837]	likely benign	X	47201552	47201552	Human	2	name
13527475	CV508676	single nucleotide variant	NM_003334.4(UBA1):c.423T>C (p.Tyr141=)	Inborn genetic diseases [RCV002331063]\|Infantile-onset X-linked spinal muscular atrophy [RCV001442280]\|not provided [RCV003437317]\|not specified [RCV000599771]	likely benign	X	47199557	47199557	Human	2	name
13526002	CV508677	single nucleotide variant	NM_003334.4(UBA1):c.960C>T (p.Phe320=)	Inborn genetic diseases [RCV002385952]\|not specified [RCV000603602]	likely benign	X	47202408	47202408	Human	1	name
15137690	CV689511	single nucleotide variant	NM_003334.4(UBA1):c.603C>T (p.Asp201=)	Infantile-onset X-linked spinal muscular atrophy [RCV002062257]	likely benign	X	47201291	47201291	Human	1	name
15138565	CV689512	single nucleotide variant	NM_003334.4(UBA1):c.873C>T (p.Ile291=)	Infantile-onset X-linked spinal muscular atrophy [RCV000864858]\|not provided [RCV001709688]	benign\|likely benign	X	47202217	47202217	Human	1	name
15137329	CV694888	single nucleotide variant	NM_003334.4(UBA1):c.360G>A (p.Glu120=)	Infantile-onset X-linked spinal muscular atrophy [RCV000876977]	likely benign	X	47199494	47199494	Human	1	name
15109977	CV694889	single nucleotide variant	NM_003334.4(UBA1):c.648A>G (p.Pro216=)	Infantile-onset X-linked spinal muscular atrophy [RCV000872012]\|UBA1-related disorder [RCV003948180]\|not provided [RCV001709691]	benign\|likely benign	X	47201336	47201336	Human	1	name , trait , alternate_id
15139520	CV694890	single nucleotide variant	NM_003334.4(UBA1):c.852C>T (p.Ser284=)	Infantile-onset X-linked spinal muscular atrophy [RCV000877329]	likely benign	X	47202196	47202196	Human	1	name
15175173	CV706237	single nucleotide variant	NM_003334.4(UBA1):c.486G>A (p.Val162=)	Infantile-onset X-linked spinal muscular atrophy [RCV001512148]	benign	X	47200899	47200899	Human	1	name
15181767	CV706238	single nucleotide variant	NM_003334.4(UBA1):c.798G>A (p.Glu266=)	Infantile-onset X-linked spinal muscular atrophy [RCV001514362]\|not provided [RCV003438623]	benign\|likely benign	X	47201597	47201597	Human	1	name
15185020	CV743339	single nucleotide variant	NM_003334.4(UBA1):c.465C>T (p.Phe155=)	Infantile-onset X-linked spinal muscular atrophy [RCV003509625]	likely benign	X	47199599	47199599	Human	1	name
15151266	CV758505	single nucleotide variant	NM_003334.4(UBA1):c.687C>T (p.Pro229=)	Infantile-onset X-linked spinal muscular atrophy [RCV001467600]\|UBA1-related disorder [RCV003960424]	likely benign	X	47201486	47201486	Human	1	name , trait , alternate_id
15099628	CV774059	single nucleotide variant	NM_003334.4(UBA1):c.369C>T (p.Ile123=)	Infantile-onset X-linked spinal muscular atrophy [RCV001481900]	likely benign	X	47199503	47199503	Human	1	name
15188754	CV774060	single nucleotide variant	NM_003334.4(UBA1):c.540C>T (p.His180=)	Infantile-onset X-linked spinal muscular atrophy [RCV001426157]	likely benign	X	47200953	47200953	Human	1	name
15125630	CV786839	single nucleotide variant	NM_003334.4(UBA1):c.330T>G (p.Ala110=)	Infantile-onset X-linked spinal muscular atrophy [RCV000980235]	likely benign	X	47199362	47199362	Human	1	name
15102114	CV786840	single nucleotide variant	NM_003334.4(UBA1):c.453C>T (p.Leu151=)	Infantile-onset X-linked spinal muscular atrophy [RCV001469364]	likely benign	X	47199587	47199587	Human	1	name
26917362	CV850070	single nucleotide variant	NM_003334.4(UBA1):c.97G>A (p.Val33Met)	Infantile-onset X-linked spinal muscular atrophy [RCV001056969]	uncertain significance	X	47198899	47198899	Human	1	name
38486538	CV903066	single nucleotide variant	NM_003334.4(UBA1):c.954G>A (p.Thr318=)	Infantile-onset X-linked spinal muscular atrophy [RCV001208937]	conflicting interpretations of pathogenicity\|uncertain significance	X	47202402	47202402	Human	1	name
126770681	CV1035541	single nucleotide variant	NM_003334.4(UBA1):c.195G>C (p.Glu65Asp)	Infantile-onset X-linked spinal muscular atrophy [RCV001344606]	uncertain significance	X	47199227	47199227	Human	1	name
126738955	CV1035546	single nucleotide variant	NM_003334.4(UBA1):c.2106C>G (p.Thr702=)	Infantile-onset X-linked spinal muscular atrophy [RCV001350545]	likely benign\|uncertain significance	X	47210030	47210030	Human	1	name
127230535	CV1086706	single nucleotide variant	NM_003334.4(UBA1):c.1533A>G (p.Ser511=)	Infantile-onset X-linked spinal muscular atrophy [RCV001394727]	likely benign	X	47203654	47203654	Human	1	name
127252285	CV1086707	single nucleotide variant	NM_003334.4(UBA1):c.1758C>T (p.Arg586=)	Infantile-onset X-linked spinal muscular atrophy [RCV001400322]\|not provided [RCV003438764]	likely benign	X	47206264	47206264	Human	1	name
127253706	CV1086708	single nucleotide variant	NM_003334.4(UBA1):c.2202C>A (p.Leu734=)	Infantile-onset X-linked spinal muscular atrophy [RCV001418372]	likely benign	X	47210844	47210844	Human	1	name
127241130	CV1086710	single nucleotide variant	NM_003334.4(UBA1):c.2586C>T (p.Ile862=)	Infantile-onset X-linked spinal muscular atrophy [RCV001415707]	likely benign	X	47212803	47212803	Human	1	name
127253028	CV1108402	single nucleotide variant	NM_003334.4(UBA1):c.2130C>A (p.Ala710=)	Infantile-onset X-linked spinal muscular atrophy [RCV001425925]	likely benign	X	47210054	47210054	Human	1	name
127247079	CV1108403	single nucleotide variant	NM_003334.4(UBA1):c.2187C>T (p.Phe729=)	Infantile-onset X-linked spinal muscular atrophy [RCV001424615]	likely benign	X	47210111	47210111	Human	1	name
127233696	CV1108404	single nucleotide variant	NM_003334.4(UBA1):c.2412C>T (p.Gly804=)	Infantile-onset X-linked spinal muscular atrophy [RCV001421841]\|not provided [RCV003438787]	likely benign	X	47211173	47211173	Human	1	name
127275573	CV1108405	single nucleotide variant	NM_003334.4(UBA1):c.2424T>C (p.His808=)	Infantile-onset X-linked spinal muscular atrophy [RCV001443378]	likely benign	X	47211185	47211185	Human	1	name
127267041	CV1108406	single nucleotide variant	NM_003334.4(UBA1):c.2595A>T (p.Ala865=)	Infantile-onset X-linked spinal muscular atrophy [RCV001440435]	likely benign	X	47212812	47212812	Human	1	name
127276575	CV1108408	single nucleotide variant	NM_003334.4(UBA1):c.2763C>G (p.Ser921=)	Infantile-onset X-linked spinal muscular atrophy [RCV001432887]	likely benign	X	47213106	47213106	Human	1	name
127263021	CV1108409	single nucleotide variant	NM_003334.4(UBA1):c.2778C>T (p.Phe926=)	Infantile-onset X-linked spinal muscular atrophy [RCV001428475]	likely benign	X	47213121	47213121	Human	1	name
127235607	CV1108411	single nucleotide variant	NM_003334.4(UBA1):c.2889G>T (p.Leu963=)	Infantile-onset X-linked spinal muscular atrophy [RCV001422301]	likely benign	X	47214377	47214377	Human	1	name
127308812	CV1129793	single nucleotide variant	NM_003334.4(UBA1):c.1038A>G (p.Pro346=)	Infantile-onset X-linked spinal muscular atrophy [RCV001463392]	likely benign	X	47202486	47202486	Human	1	name
127291938	CV1129794	single nucleotide variant	NM_003334.4(UBA1):c.2136C>T (p.His712=)	Infantile-onset X-linked spinal muscular atrophy [RCV001458865]	likely benign	X	47210060	47210060	Human	1	name
127330070	CV1150808	single nucleotide variant	NM_003334.4(UBA1):c.1041T>A (p.Pro347=)	Infantile-onset X-linked spinal muscular atrophy [RCV001487849]	likely benign	X	47202489	47202489	Human	1	name
127307133	CV1150809	single nucleotide variant	NM_003334.4(UBA1):c.1377C>T (p.Gly459=)	Infantile-onset X-linked spinal muscular atrophy [RCV001480246]	likely benign	X	47203172	47203172	Human	1	name
127322925	CV1150810	single nucleotide variant	NM_003334.4(UBA1):c.2725C>T (p.Leu909=)	Infantile-onset X-linked spinal muscular atrophy [RCV001505262]	likely benign	X	47213068	47213068	Human	1	name
127312660	CV1159664	single nucleotide variant	NM_003334.4(UBA1):c.253G>A (p.Val85Met)	Inborn genetic diseases [RCV002458500]\|Infantile-onset X-linked spinal muscular atrophy [RCV001519018]\|not provided [RCV003438857]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	47199285	47199285	Human	2	name
127322099	CV1159666	single nucleotide variant	NM_003334.4(UBA1):c.1152G>A (p.Arg384=)	Infantile-onset X-linked spinal muscular atrophy [RCV001523373]	benign	X	47202733	47202733	Human	1	name
127301214	CV1159669	single nucleotide variant	NM_003334.4(UBA1):c.1818T>C (p.Asn606=)	Infantile-onset X-linked spinal muscular atrophy [RCV001514539]\|UBA1-related disorder [RCV003983931]	benign\|likely benign	X	47206324	47206324	Human	1	name , trait , alternate_id
127321076	CV1159670	single nucleotide variant	NM_003334.4(UBA1):c.2118C>T (p.Cys706=)	Infantile-onset X-linked spinal muscular atrophy [RCV001522934]	benign	X	47210042	47210042	Human	1	name
127301757	CV1159672	single nucleotide variant	NM_003334.4(UBA1):c.2724G>A (p.Glu908=)	Infantile-onset X-linked spinal muscular atrophy [RCV001514815]	benign	X	47213067	47213067	Human	1	name
150520226	CV1288214	single nucleotide variant	NM_003334.4(UBA1):c.167C>T (p.Ser56Phe)	Infantile-onset X-linked spinal muscular atrophy [RCV002539756]\|VEXAS syndrome [RCV001726682]	pathogenic\|uncertain significance	X	47199097	47199097	Human	2	name
151854437	CV1511221	single nucleotide variant	NM_003334.4(UBA1):c.242G>A (p.Arg81Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV001979353]	uncertain significance	X	47199274	47199274	Human	1	name
152058190	CV1532558	single nucleotide variant	NM_003334.4(UBA1):c.2292T>C (p.Tyr764=)	Infantile-onset X-linked spinal muscular atrophy [RCV002208343]	likely benign	X	47211053	47211053	Human	1	name
152061219	CV1540747	single nucleotide variant	NM_003334.4(UBA1):c.1875T>C (p.Pro625=)	Infantile-onset X-linked spinal muscular atrophy [RCV002110136]	likely benign	X	47206381	47206381	Human	1	name
152081254	CV1546710	single nucleotide variant	NM_003334.4(UBA1):c.2949C>T (p.His983=)	Infantile-onset X-linked spinal muscular atrophy [RCV002130842]	likely benign	X	47214545	47214545	Human	1	name
152078979	CV1557820	single nucleotide variant	NM_003334.4(UBA1):c.1281T>C (p.Asp427=)	Infantile-onset X-linked spinal muscular atrophy [RCV002170295]	likely benign	X	47202990	47202990	Human	1	name
152104416	CV1570178	single nucleotide variant	NM_003334.4(UBA1):c.2745G>T (p.Gly915=)	Infantile-onset X-linked spinal muscular atrophy [RCV002195962]	likely benign	X	47213088	47213088	Human	1	name
152086931	CV1573980	single nucleotide variant	NM_003334.4(UBA1):c.1800A>G (p.Thr600=)	Infantile-onset X-linked spinal muscular atrophy [RCV002150058]	likely benign	X	47206306	47206306	Human	1	name
152172200	CV1575757	single nucleotide variant	NM_003334.4(UBA1):c.2115C>T (p.Asp705=)	Infantile-onset X-linked spinal muscular atrophy [RCV002183761]	likely benign	X	47210039	47210039	Human	1	name
152153427	CV1579305	single nucleotide variant	NM_003334.4(UBA1):c.2124C>T (p.Thr708=)	Infantile-onset X-linked spinal muscular atrophy [RCV002158530]	likely benign	X	47210048	47210048	Human	1	name
152143397	CV1596712	single nucleotide variant	NM_003334.4(UBA1):c.2053T>C (p.Leu685=)	Infantile-onset X-linked spinal muscular atrophy [RCV002157066]	benign	X	47209977	47209977	Human	1	name
152035409	CV1604153	single nucleotide variant	NM_003334.4(UBA1):c.1485G>A (p.Gly495=)	Infantile-onset X-linked spinal muscular atrophy [RCV002087125]	benign	X	47203606	47203606	Human	1	name
152159746	CV1605843	single nucleotide variant	NM_003334.4(UBA1):c.1218C>T (p.Ala406=)	Infantile-onset X-linked spinal muscular atrophy [RCV002103568]	likely benign	X	47202799	47202799	Human	1	name
152072896	CV1609646	single nucleotide variant	NM_003334.4(UBA1):c.2793G>T (p.Leu931=)	Infantile-onset X-linked spinal muscular atrophy [RCV002129835]	benign	X	47213136	47213136	Human	1	name
152121986	CV1631725	single nucleotide variant	NM_003334.4(UBA1):c.2460T>C (p.Ser820=)	Infantile-onset X-linked spinal muscular atrophy [RCV002117964]	benign	X	47211221	47211221	Human	1	name
152071594	CV1638778	single nucleotide variant	NM_003334.4(UBA1):c.1156C>T (p.Leu386=)	Infantile-onset X-linked spinal muscular atrophy [RCV002075180]\|UBA1-related disorder [RCV003950988]	likely benign	X	47202737	47202737	Human	1	name , trait , alternate_id
152026029	CV1639220	single nucleotide variant	NM_003334.4(UBA1):c.2913C>T (p.Thr971=)	Infantile-onset X-linked spinal muscular atrophy [RCV002185016]	benign	X	47214401	47214401	Human	1	name
152053054	CV1658258	single nucleotide variant	NM_003334.4(UBA1):c.2391C>T (p.Pro797=)	Infantile-onset X-linked spinal muscular atrophy [RCV002207759]	likely benign	X	47211152	47211152	Human	1	name
155694047	CV1842313	single nucleotide variant	NM_003334.4(UBA1):c.262G>A (p.Ala88Thr)	Inborn genetic diseases [RCV002426465]	uncertain significance	X	47199294	47199294	Human	1	name
156258977	CV1872137	single nucleotide variant	NM_003334.4(UBA1):c.1392G>A (p.Glu464=)	Infantile-onset X-linked spinal muscular atrophy [RCV003060292]	likely benign	X	47203187	47203187	Human	1	name
156359440	CV1891502	single nucleotide variant	NM_003334.4(UBA1):c.1575G>A (p.Thr525=)	Infantile-onset X-linked spinal muscular atrophy [RCV003091602]	uncertain significance	X	47203696	47203696	Human	1	name
155951462	CV1899868	single nucleotide variant	NM_003334.4(UBA1):c.2841C>T (p.Tyr947=)	Infantile-onset X-linked spinal muscular atrophy [RCV003095355]	likely benign	X	47214329	47214329	Human	1	name
156037016	CV1918303	single nucleotide variant	NM_003334.4(UBA1):c.1836C>G (p.Pro612=)	Infantile-onset X-linked spinal muscular atrophy [RCV002620094]	benign	X	47206342	47206342	Human	1	name
156448977	CV1944227	single nucleotide variant	NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV003121086]	uncertain significance	X	47199063	47199063	Human	1	name
156446905	CV1948591	single nucleotide variant	NM_003334.4(UBA1):c.2169G>T (p.Arg723=)	Infantile-onset X-linked spinal muscular atrophy [RCV003118424]	likely benign	X	47210093	47210093	Human	1	name
156390045	CV1998576	single nucleotide variant	NM_003334.4(UBA1):c.2823C>T (p.Ala941=)	Infantile-onset X-linked spinal muscular atrophy [RCV002680672]\|not provided [RCV003435817]	benign\|likely benign	X	47213166	47213166	Human	1	name
156087055	CV2007287	single nucleotide variant	NM_003334.4(UBA1):c.2247A>G (p.Pro749=)	Infantile-onset X-linked spinal muscular atrophy [RCV002694808]	likely benign	X	47210889	47210889	Human	1	name
156139119	CV2032846	single nucleotide variant	NM_003334.4(UBA1):c.1923C>T (p.Ile641=)	Infantile-onset X-linked spinal muscular atrophy [RCV002740833]	likely benign	X	47206429	47206429	Human	1	name
156060772	CV2061067	single nucleotide variant	NM_003334.4(UBA1):c.2247A>C (p.Pro749=)	Infantile-onset X-linked spinal muscular atrophy [RCV002797092]	likely benign	X	47210889	47210889	Human	1	name
156141182	CV2082327	single nucleotide variant	NM_003334.4(UBA1):c.2388C>A (p.Val796=)	Infantile-onset X-linked spinal muscular atrophy [RCV002871989]	uncertain significance	X	47211149	47211149	Human	1	name
156247544	CV2086277	single nucleotide variant	NM_003334.4(UBA1):c.2964C>G (p.Thr988=)	Infantile-onset X-linked spinal muscular atrophy [RCV002876824]	likely benign	X	47214560	47214560	Human	1	name
156193543	CV2099097	single nucleotide variant	NM_003334.4(UBA1):c.1920C>T (p.Ala640=)	Infantile-onset X-linked spinal muscular atrophy [RCV002917530]	likely benign	X	47206426	47206426	Human	1	name
156235318	CV2157972	single nucleotide variant	NM_003334.4(UBA1):c.2679C>A (p.Ala893=)	Infantile-onset X-linked spinal muscular atrophy [RCV003025801]	likely benign	X	47213022	47213022	Human	1	name
156064236	CV2287097	single nucleotide variant	NM_003334.4(UBA1):c.113C>T (p.Thr38Ile)	Inborn genetic diseases [RCV002868332]	uncertain significance	X	47198915	47198915	Human	1	name
156440075	CV2401759	single nucleotide variant	NM_003334.4(UBA1):c.116A>T (p.Asn39Ile)	not provided [RCV003110047]	uncertain significance	X	47198918	47198918	Human		name
8598400	CV24821	single nucleotide variant	NM_003334.4(UBA1):c.1731C>T (p.Asn577=)	Inborn genetic diseases [RCV002399316]\|Infantile-onset X-linked spinal muscular atrophy [RCV000010436]	pathogenic\|likely benign	X	47206103	47206103	Human	2	name
402510555	CV2864345	single nucleotide variant	NM_003334.4(UBA1):c.1278T>C (p.Phe426=)	Infantile-onset X-linked spinal muscular atrophy [RCV003509913]	likely benign	X	47202987	47202987	Human	1	name
402521922	CV2869172	single nucleotide variant	NM_003334.4(UBA1):c.2250C>T (p.His750=)	Infantile-onset X-linked spinal muscular atrophy [RCV003510880]	likely benign	X	47210892	47210892	Human	1	name
402513757	CV2922186	single nucleotide variant	NM_003334.4(UBA1):c.2433C>T (p.Asp811=)	Infantile-onset X-linked spinal muscular atrophy [RCV003510214]	likely benign	X	47211194	47211194	Human	1	name
405167507	CV2944886	single nucleotide variant	NM_003334.4(UBA1):c.1686C>T (p.Asp562=)	Infantile-onset X-linked spinal muscular atrophy [RCV003621824]	likely benign	X	47206058	47206058	Human	1	name
405167440	CV2948079	single nucleotide variant	NM_003334.4(UBA1):c.2484G>A (p.Glu828=)	Infantile-onset X-linked spinal muscular atrophy [RCV003621818]	likely benign	X	47212443	47212443	Human	1	name
402464774	CV2966916	single nucleotide variant	NM_003334.4(UBA1):c.2685C>T (p.Ala895=)	Infantile-onset X-linked spinal muscular atrophy [RCV003622493]	likely benign	X	47213028	47213028	Human	1	name
402467112	CV3000867	single nucleotide variant	NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)	Infantile-onset X-linked spinal muscular atrophy [RCV003623088]	uncertain significance	X	47199237	47199237	Human	1	name
402468068	CV3017581	single nucleotide variant	NM_003334.4(UBA1):c.1668G>A (p.Thr556=)	Infantile-onset X-linked spinal muscular atrophy [RCV003623343]	likely benign	X	47206040	47206040	Human	1	name
402469636	CV3044159	single nucleotide variant	NM_003334.4(UBA1):c.2700C>T (p.Ala900=)	Infantile-onset X-linked spinal muscular atrophy [RCV003623763]	likely benign	X	47213043	47213043	Human	1	name
405170365	CV3057976	single nucleotide variant	NM_003334.4(UBA1):c.2604C>G (p.Leu868=)	Infantile-onset X-linked spinal muscular atrophy [RCV003622057]	likely benign	X	47212821	47212821	Human	1	name
405171655	CV3066374	single nucleotide variant	NM_003334.4(UBA1):c.2340C>T (p.Gly780=)	Infantile-onset X-linked spinal muscular atrophy [RCV003622174]	likely benign	X	47211101	47211101	Human	1	name
405079677	CV3137052	single nucleotide variant	NM_003334.4(UBA1):c.2859A>G (p.Thr953=)	Infantile-onset X-linked spinal muscular atrophy [RCV003833951]	likely benign	X	47214347	47214347	Human	1	name
11624526	CV339239	single nucleotide variant	NM_003334.4(UBA1):c.1296C>T (p.Leu432=)	Inborn genetic diseases [RCV002379263]\|Infantile-onset X-linked spinal muscular atrophy [RCV000387393]\|UBA1-related disorder [RCV003902452]\|not provided [RCV003437153]\|not specified [RCV000608875]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	47203005	47203005	Human	2	name , trait , alternate_id
11624915	CV339251	single nucleotide variant	NM_003334.4(UBA1):c.1543C>A (p.Arg515=)	Inborn genetic diseases [RCV002402094]\|Infantile-onset X-linked spinal muscular atrophy [RCV000392406]	benign\|likely benign\|uncertain significance	X	47203664	47203664	Human	2	name
11628160	CV348762	single nucleotide variant	NM_003334.4(UBA1):c.1137C>T (p.Asp379=)	Inborn genetic diseases [RCV002323573]\|Infantile-onset X-linked spinal muscular atrophy [RCV000296556]\|not provided [RCV001706619]\|not specified [RCV004999359]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	47202718	47202718	Human	2	name
11629785	CV348763	single nucleotide variant	NM_003334.4(UBA1):c.1242C>T (p.Ser414=)	Inborn genetic diseases [RCV002379262]\|Infantile-onset X-linked spinal muscular atrophy [RCV000332834]\|UBA1-related disorder [RCV003957880]\|not provided [RCV001718798]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	47202951	47202951	Human	2	name , trait , alternate_id
11628481	CV348776	single nucleotide variant	NM_003334.4(UBA1):c.2220G>A (p.Pro740=)	Infantile-onset X-linked spinal muscular atrophy [RCV000302595]\|not provided [RCV004713893]\|not specified [RCV000430649]	benign	X	47210862	47210862	Human	1	name
11629037	CV352255	single nucleotide variant	NM_003334.4(UBA1):c.2928C>T (p.Leu976=)	Inborn genetic diseases [RCV002436226]\|Infantile-onset X-linked spinal muscular atrophy [RCV000314272]	benign\|likely benign	X	47214416	47214416	Human	2	name
11632294	CV352870	single nucleotide variant	NM_003334.4(UBA1):c.2364C>T (p.Ala788=)	Inborn genetic diseases [RCV002446630]\|Infantile-onset X-linked spinal muscular atrophy [RCV000404330]\|not specified [RCV000433590]	benign\|likely benign	X	47211125	47211125	Human	2	name
597868145	CV3742865	single nucleotide variant	NM_003334.4(UBA1):c.2631T>C (p.Ser877=)	Infantile-onset X-linked spinal muscular atrophy [RCV005068288]	likely benign	X	47212848	47212848	Human	1	name
597945443	CV3755368	single nucleotide variant	NM_003334.4(UBA1):c.1308A>G (p.Lys436=)	Infantile-onset X-linked spinal muscular atrophy [RCV005078377]	likely benign	X	47203017	47203017	Human	1	name
12848124	CV378348	single nucleotide variant	NM_003334.4(UBA1):c.1305C>T (p.Asp435=)	Inborn genetic diseases [RCV002379393]\|not specified [RCV000444721]	likely benign	X	47203014	47203014	Human	1	name
12839865	CV378349	single nucleotide variant	NM_003334.4(UBA1):c.2157G>A (p.Ser719=)	Inborn genetic diseases [RCV002429398]\|not specified [RCV000429621]	likely benign	X	47210081	47210081	Human	1	name
597894740	CV3785635	single nucleotide variant	NM_003334.4(UBA1):c.1557C>T (p.Phe519=)	Infantile-onset X-linked spinal muscular atrophy [RCV005126221]	likely benign	X	47203678	47203678	Human	1	name
12842591	CV379300	single nucleotide variant	NM_003334.4(UBA1):c.1695C>T (p.Phe565=)	Inborn genetic diseases [RCV002402187]\|Infantile-onset X-linked spinal muscular atrophy [RCV002522493]\|not specified [RCV000434694]	benign\|likely benign	X	47206067	47206067	Human	2	name
597973986	CV3801675	single nucleotide variant	NM_003334.4(UBA1):c.1335C>T (p.Leu445=)	Infantile-onset X-linked spinal muscular atrophy [RCV005143664]	likely benign	X	47203044	47203044	Human	1	name
597936916	CV3807740	single nucleotide variant	NM_003334.4(UBA1):c.191A>G (p.His64Arg)	Infantile-onset X-linked spinal muscular atrophy [RCV005158119]	uncertain significance	X	47199223	47199223	Human	1	name
597893256	CV3809892	single nucleotide variant	NM_003334.4(UBA1):c.1842G>C (p.Leu614=)	Infantile-onset X-linked spinal muscular atrophy [RCV005151613]	likely benign	X	47206348	47206348	Human	1	name
597967959	CV3820773	single nucleotide variant	NM_003334.4(UBA1):c.2439G>A (p.Glu813=)	Infantile-onset X-linked spinal muscular atrophy [RCV005165614]	likely benign	X	47211200	47211200	Human	1	name
597835747	CV3828285	single nucleotide variant	NM_003334.4(UBA1):c.2892G>A (p.Gln964=)	Infantile-onset X-linked spinal muscular atrophy [RCV005171177]	likely benign	X	47214380	47214380	Human	1	name
597963693	CV3830268	single nucleotide variant	NM_003334.4(UBA1):c.2968C>T (p.Leu990=)	Infantile-onset X-linked spinal muscular atrophy [RCV005164408]	likely benign	X	47214564	47214564	Human	1	name
597871913	CV3835789	single nucleotide variant	NM_003334.4(UBA1):c.1257C>T (p.Pro419=)	Infantile-onset X-linked spinal muscular atrophy [RCV005176780]	likely benign	X	47202966	47202966	Human	1	name
597904922	CV3846233	single nucleotide variant	NM_003334.4(UBA1):c.1389A>G (p.Gln463=)	Infantile-onset X-linked spinal muscular atrophy [RCV005181856]	likely benign	X	47203184	47203184	Human	1	name
597871320	CV3849304	single nucleotide variant	NM_003334.4(UBA1):c.1995G>A (p.Gln665=)	Infantile-onset X-linked spinal muscular atrophy [RCV005197485]	likely benign	X	47209679	47209679	Human	1	name
597928036	CV3851724	single nucleotide variant	NM_003334.4(UBA1):c.1368T>C (p.Ala456=)	Infantile-onset X-linked spinal muscular atrophy [RCV005206192]	likely benign	X	47203163	47203163	Human	1	name
597896343	CV3854048	single nucleotide variant	NM_003334.4(UBA1):c.2460T>G (p.Ser820=)	Infantile-onset X-linked spinal muscular atrophy [RCV005201332]	uncertain significance	X	47211221	47211221	Human	1	name
13464838	CV471559	single nucleotide variant	NM_003334.4(UBA1):c.1401C>G (p.Gly467=)	Inborn genetic diseases [RCV002395384]\|Infantile-onset X-linked spinal muscular atrophy [RCV000544070]	likely benign	X	47203196	47203196	Human	2	name
13503466	CV471561	single nucleotide variant	NM_003334.4(UBA1):c.2371C>T (p.Leu791=)	Inborn genetic diseases [RCV002456121]\|Infantile-onset X-linked spinal muscular atrophy [RCV000546477]	likely benign	X	47211132	47211132	Human	2	name
13468575	CV471889	single nucleotide variant	NM_003334.4(UBA1):c.2595A>G (p.Ala865=)	Inborn genetic diseases [RCV002431614]\|Infantile-onset X-linked spinal muscular atrophy [RCV000559011]\|UBA1-related disorder [RCV003905390]\|not specified [RCV000603398]	benign\|likely benign	X	47212812	47212812	Human	2	name , trait , alternate_id
13500096	CV472157	single nucleotide variant	NM_003334.4(UBA1):c.2979C>T (p.Gly993=)	Inborn genetic diseases [RCV002438371]\|Infantile-onset X-linked spinal muscular atrophy [RCV000535508]	benign\|likely benign	X	47214575	47214575	Human	2	name
13528381	CV508578	single nucleotide variant	NM_003334.4(UBA1):c.1353T>C (p.Tyr451=)	Inborn genetic diseases [RCV002384331]\|Infantile-onset X-linked spinal muscular atrophy [RCV002063281]\|UBA1-related disorder [RCV003935667]\|not specified [RCV000605459]	likely benign	X	47203148	47203148	Human	2	name , trait , alternate_id
13538339	CV508580	single nucleotide variant	NM_003334.4(UBA1):c.1791G>A (p.Glu597=)	Inborn genetic diseases [RCV002413725]\|Infantile-onset X-linked spinal muscular atrophy [RCV000918887]\|not specified [RCV000611684]	benign\|likely benign	X	47206297	47206297	Human	2	name
13538125	CV508675	single nucleotide variant	NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV000872075]\|not specified [RCV000611374]	benign\|likely benign	X	47199238	47199238	Human	1	name
13609695	CV534990	single nucleotide variant	NM_003334.4(UBA1):c.1638A>G (p.Thr546=)	Inborn genetic diseases [RCV002388072]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640817]	likely benign	X	47206010	47206010	Human	2	name
13609703	CV535174	single nucleotide variant	NM_003334.4(UBA1):c.2094G>A (p.Gln698=)	Inborn genetic diseases [RCV002420744]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640821]	likely benign	X	47210018	47210018	Human	2	name
13609697	CV535175	single nucleotide variant	NM_003334.4(UBA1):c.2793G>A (p.Leu931=)	Inborn genetic diseases [RCV002440282]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640818]	likely benign	X	47213136	47213136	Human	2	name
14709962	CV650059	single nucleotide variant	NM_003334.4(UBA1):c.106G>A (p.Val36Met)	Infantile-onset X-linked spinal muscular atrophy [RCV000793002]	uncertain significance	X	47198908	47198908	Human	1	name
14739780	CV656779	single nucleotide variant	NM_003334.4(UBA1):c.2328C>T (p.Tyr776=)	Infantile-onset X-linked spinal muscular atrophy [RCV001084914]\|not provided [RCV000840035]	benign	X	47211089	47211089	Human	1	name
15133371	CV694891	single nucleotide variant	NM_003334.4(UBA1):c.1149C>T (p.Ile383=)	Infantile-onset X-linked spinal muscular atrophy [RCV000876302]	benign	X	47202730	47202730	Human	1	name
15106888	CV694892	single nucleotide variant	NM_003334.4(UBA1):c.1173T>C (p.Ala391=)	Infantile-onset X-linked spinal muscular atrophy [RCV001513612]	benign	X	47202754	47202754	Human	1	name
15127819	CV694893	single nucleotide variant	NM_003334.4(UBA1):c.1356C>T (p.Asp452=)	Infantile-onset X-linked spinal muscular atrophy [RCV000875377]	likely benign	X	47203151	47203151	Human	1	name
15113516	CV694894	single nucleotide variant	NM_003334.4(UBA1):c.1665C>T (p.Asp555=)	Infantile-onset X-linked spinal muscular atrophy [RCV002064710]\|not provided [RCV000872755]	likely benign	X	47206037	47206037	Human	1	name
15141786	CV694896	single nucleotide variant	NM_003334.4(UBA1):c.2661A>G (p.Ala887=)	Infantile-onset X-linked spinal muscular atrophy [RCV001514997]	benign	X	47213004	47213004	Human	1	name
15116539	CV694897	single nucleotide variant	NM_003334.4(UBA1):c.2733G>A (p.Lys911=)	Infantile-onset X-linked spinal muscular atrophy [RCV000873345]	likely benign	X	47213076	47213076	Human	1	name
15183075	CV706239	single nucleotide variant	NM_003334.4(UBA1):c.1077A>C (p.Val359=)	Infantile-onset X-linked spinal muscular atrophy [RCV000952378]	likely benign	X	47202658	47202658	Human	1	name
15193290	CV743340	single nucleotide variant	NM_003334.4(UBA1):c.1482C>T (p.Cys494=)	Infantile-onset X-linked spinal muscular atrophy [RCV000910797]\|not provided [RCV003438581]	benign\|likely benign	X	47203603	47203603	Human	1	name
15170385	CV743341	single nucleotide variant	NM_003334.4(UBA1):c.1851G>A (p.Ser617=)	Infantile-onset X-linked spinal muscular atrophy [RCV001394013]	likely benign	X	47206357	47206357	Human	1	name
15174850	CV743342	single nucleotide variant	NM_003334.4(UBA1):c.2256C>T (p.Leu752=)	not provided [RCV000906070]	likely benign	X	47210898	47210898	Human		name
15201904	CV758506	single nucleotide variant	NM_003334.4(UBA1):c.1194C>T (p.Asn398=)	Infantile-onset X-linked spinal muscular atrophy [RCV000913281]	likely benign	X	47202775	47202775	Human	1	name
15157370	CV758507	single nucleotide variant	NM_003334.4(UBA1):c.2361G>A (p.Val787=)	not provided [RCV000924848]	likely benign	X	47211122	47211122	Human		name
15124491	CV758508	single nucleotide variant	NM_003334.4(UBA1):c.2640G>C (p.Arg880=)	Infantile-onset X-linked spinal muscular atrophy [RCV000918993]	likely benign	X	47212857	47212857	Human	1	name
15201731	CV758509	single nucleotide variant	NM_003334.4(UBA1):c.2688G>A (p.Thr896=)	Infantile-onset X-linked spinal muscular atrophy [RCV001493952]	likely benign	X	47213031	47213031	Human	1	name
15113203	CV758510	single nucleotide variant	NM_003334.4(UBA1):c.2982G>T (p.Val994=)	Infantile-onset X-linked spinal muscular atrophy [RCV000917050]\|UBA1-related disorder [RCV003950842]\|not provided [RCV003438587]	benign\|likely benign	X	47214578	47214578	Human	1	name , trait , alternate_id
15115796	CV774061	single nucleotide variant	NM_003334.4(UBA1):c.1047C>T (p.Pro349=)	Infantile-onset X-linked spinal muscular atrophy [RCV001478674]	likely benign	X	47202495	47202495	Human	1	name
15123336	CV774065	single nucleotide variant	NM_003334.4(UBA1):c.1569T>C (p.Asp523=)	Infantile-onset X-linked spinal muscular atrophy [RCV000940837]	likely benign	X	47203690	47203690	Human	1	name
15200537	CV774066	single nucleotide variant	NM_003334.4(UBA1):c.1929C>T (p.His643=)	Infantile-onset X-linked spinal muscular atrophy [RCV001469333]	likely benign	X	47206435	47206435	Human	1	name
15102762	CV774068	single nucleotide variant	NM_003334.4(UBA1):c.2376G>A (p.Gln792=)	Infantile-onset X-linked spinal muscular atrophy [RCV002544517]\|not provided [RCV000937055]\|not specified [RCV001726376]	benign\|likely benign	X	47211137	47211137	Human	1	name
15099261	CV786841	single nucleotide variant	NM_003334.4(UBA1):c.1197C>T (p.Ala399=)	Infantile-onset X-linked spinal muscular atrophy [RCV002550533]	benign	X	47202778	47202778	Human	1	name
26907939	CV850071	single nucleotide variant	NM_003334.4(UBA1):c.121A>G (p.Met41Val)	Inborn genetic diseases [RCV002363560]\|Infantile-onset X-linked spinal muscular atrophy [RCV001038219]\|UBA1-related disorder [RCV003411963]\|VEXAS [RCV001261200]\|VEXAS syndrome [RCV001265106]\|not provided [RCV002255173]	pathogenic\|likely pathogenic\|uncertain significance	X	47199051	47199051	Human	3	name , trait , alternate_id
26919006	CV850076	single nucleotide variant	NM_003334.4(UBA1):c.1710C>T (p.Gly570=)	Infantile-onset X-linked spinal muscular atrophy [RCV001058492]	likely benign\|uncertain significance	X	47206082	47206082	Human	1	name
28878139	CV903068	single nucleotide variant	NM_003334.4(UBA1):c.1683T>C (p.Asp561=)	Infantile-onset X-linked spinal muscular atrophy [RCV001166656]	conflicting interpretations of pathogenicity\|uncertain significance	X	47206055	47206055	Human	1	name
38491837	CV959307	single nucleotide variant	NM_003334.4(UBA1):c.122T>C (p.Met41Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV001239702]\|Infantile-onset X-linked spinal muscular atrophy [RCV005040080]\|UBA1-related disorder [RCV003405435]\|VEXAS [RCV001261202]\|VEXAS syndrome [RCV001265107]\|not provided [RCV001702587]	pathogenic\|likely pathogenic\|uncertain significance	X	47199052	47199052	Human	2	name , trait , alternate_id
40813937	CV969739	single nucleotide variant	NM_003334.4(UBA1):c.121A>C (p.Met41Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV001366437]\|VEXAS [RCV001261201]\|VEXAS syndrome [RCV001265108]\|not provided [RCV001815527]	pathogenic\|likely pathogenic\|uncertain significance	X	47199051	47199051	Human	2	name
126732389	CV999790	single nucleotide variant	NM_003334.4(UBA1):c.241C>T (p.Arg81Trp)	Infantile-onset X-linked spinal muscular atrophy [RCV001304077]	uncertain significance	X	47199273	47199273	Human	1	name
126728433	CV1014970	single nucleotide variant	NM_003334.4(UBA1):c.741T>G (p.Phe247Leu)	Inborn genetic diseases [RCV002384387]\|Infantile-onset X-linked spinal muscular atrophy [RCV001312513]	uncertain significance	X	47201540	47201540	Human	2	name
126768230	CV1014971	single nucleotide variant	NM_003334.4(UBA1):c.746C>T (p.Ser249Phe)	Infantile-onset X-linked spinal muscular atrophy [RCV001321247]	uncertain significance	X	47201545	47201545	Human	1	name
126742484	CV1014972	single nucleotide variant	NM_003334.4(UBA1):c.793A>G (p.Met265Val)	Infantile-onset X-linked spinal muscular atrophy [RCV001325489]	uncertain significance	X	47201592	47201592	Human	1	name
126742112	CV1014973	single nucleotide variant	NM_003334.4(UBA1):c.863G>A (p.Arg288His)	Inborn genetic diseases [RCV002377417]\|Infantile-onset X-linked spinal muscular atrophy [RCV001325437]	uncertain significance	X	47202207	47202207	Human	2	name
126747924	CV1035542	single nucleotide variant	NM_003334.4(UBA1):c.436G>A (p.Ala146Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV001351762]	uncertain significance	X	47199570	47199570	Human	1	name
127282218	CV1086702	single nucleotide variant	NM_003334.4(UBA1):c.334C>T (p.Leu112Phe)	Infantile-onset X-linked spinal muscular atrophy [RCV001411000]	likely benign	X	47199366	47199366	Human	1	name
127248475	CV1108412	single nucleotide variant	NM_003334.4(UBA1):c.3135C>A (p.Gly1045=)	Infantile-onset X-linked spinal muscular atrophy [RCV001424935]	likely benign	X	47214887	47214887	Human	1	name
127316732	CV1129795	single nucleotide variant	NM_003334.4(UBA1):c.3138G>A (p.Glu1046=)	Infantile-onset X-linked spinal muscular atrophy [RCV001465618]	likely benign	X	47214890	47214890	Human	1	name
150550739	CV1307345	single nucleotide variant	NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)	Infantile-onset X-linked spinal muscular atrophy [RCV002482286]\|Infantile-onset X-linked spinal muscular atrophy [RCV003621608]\|not provided [RCV001753380]	uncertain significance	X	47201603	47201603	Human	1	name
150557225	CV1310578	single nucleotide variant	NM_003334.4(UBA1):c.606T>G (p.Phe202Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV005095100]\|not provided [RCV001776312]	uncertain significance	X	47201294	47201294	Human	1	name
151822202	CV1351180	single nucleotide variant	NM_003334.4(UBA1):c.598T>G (p.Cys200Gly)	Infantile-onset X-linked spinal muscular atrophy [RCV001992886]	uncertain significance	X	47201286	47201286	Human	1	name
151746699	CV1364552	single nucleotide variant	NM_003334.4(UBA1):c.683A>C (p.Asn228Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV001985809]	uncertain significance	X	47201482	47201482	Human	1	name
151823019	CV1412052	single nucleotide variant	NM_003334.4(UBA1):c.370G>A (p.Gly124Ser)	Inborn genetic diseases [RCV002554210]\|Infantile-onset X-linked spinal muscular atrophy [RCV001901072]	uncertain significance	X	47199504	47199504	Human	2	name
151709742	CV1433307	single nucleotide variant	NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)	Inborn genetic diseases [RCV002335023]\|Infantile-onset X-linked spinal muscular atrophy [RCV002001704]\|Infantile-onset X-linked spinal muscular atrophy [RCV002479695]	conflicting interpretations of pathogenicity\|uncertain significance	X	47200934	47200934	Human	2	name
151864589	CV1443024	single nucleotide variant	NM_003334.4(UBA1):c.874G>A (p.Val292Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV002034896]	uncertain significance	X	47202218	47202218	Human	1	name
151767655	CV1444312	single nucleotide variant	NM_003334.4(UBA1):c.377A>G (p.Asn126Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV001949847]	uncertain significance	X	47199511	47199511	Human	1	name
151821772	CV1449675	single nucleotide variant	NM_003334.4(UBA1):c.356G>A (p.Arg119Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV002013455]	uncertain significance	X	47199490	47199490	Human	1	name
151783714	CV1474476	single nucleotide variant	NM_003334.4(UBA1):c.781G>A (p.Gly261Arg)	Inborn genetic diseases [RCV002407071]\|Infantile-onset X-linked spinal muscular atrophy [RCV001930679]	uncertain significance	X	47201580	47201580	Human	2	name
152068587	CV1535166	single nucleotide variant	NM_003334.4(UBA1):c.3060C>T (p.Ser1020=)	Infantile-onset X-linked spinal muscular atrophy [RCV002091274]	likely benign	X	47214812	47214812	Human	1	name
152041251	CV1617854	single nucleotide variant	NM_003334.4(UBA1):c.3132C>T (p.Ser1044=)	Infantile-onset X-linked spinal muscular atrophy [RCV002206374]	likely benign	X	47214884	47214884	Human	1	name
155676501	CV1771765	single nucleotide variant	NM_003334.4(UBA1):c.669G>A (p.Met223Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV002297807]	uncertain significance	X	47201357	47201357	Human	1	name
155668226	CV1789607	single nucleotide variant	NM_003334.4(UBA1):c.367A>G (p.Ile123Val)	Inborn genetic diseases [RCV002452703]\|Infantile-onset X-linked spinal muscular atrophy [RCV003621624]	uncertain significance	X	47199501	47199501	Human	2	name
155676875	CV1806598	single nucleotide variant	NM_003334.4(UBA1):c.556C>G (p.Leu186Val)	Inborn genetic diseases [RCV002352040]	uncertain significance	X	47200969	47200969	Human	1	name
155698544	CV1813212	single nucleotide variant	NM_003334.4(UBA1):c.757G>A (p.Val253Ile)	Inborn genetic diseases [RCV002394111]\|Infantile-onset X-linked spinal muscular atrophy [RCV003099688]	uncertain significance	X	47201556	47201556	Human	2	name
155688962	CV1814395	single nucleotide variant	NM_003334.4(UBA1):c.875T>C (p.Val292Ala)	Inborn genetic diseases [RCV002373591]\|Infantile-onset X-linked spinal muscular atrophy [RCV003776537]	uncertain significance	X	47202219	47202219	Human	2	name
155713515	CV1820576	single nucleotide variant	NM_003334.4(UBA1):c.851C>G (p.Ser284Cys)	Inborn genetic diseases [RCV002447767]	uncertain significance	X	47202195	47202195	Human	1	name
155723689	CV1824764	single nucleotide variant	NM_003334.4(UBA1):c.896A>G (p.Lys299Arg)	Inborn genetic diseases [RCV002449904]	uncertain significance	X	47202240	47202240	Human	1	name
156158168	CV1926366	single nucleotide variant	NM_003334.4(UBA1):c.779A>G (p.Asn260Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV002624261]	uncertain significance	X	47201578	47201578	Human	1	name
156369158	CV1926766	single nucleotide variant	NM_003334.4(UBA1):c.920T>C (p.Val307Ala)	Infantile-onset X-linked spinal muscular atrophy [RCV002633234]	uncertain significance	X	47202368	47202368	Human	1	name
156437598	CV1947604	single nucleotide variant	NM_003334.4(UBA1):c.991A>G (p.Ile331Val)	Infantile-onset X-linked spinal muscular atrophy [RCV003107138]	uncertain significance	X	47202439	47202439	Human	1	name
156444922	CV1949061	single nucleotide variant	NM_003334.4(UBA1):c.347T>G (p.Phe116Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV003115856]\|not provided [RCV003435978]	uncertain significance	X	47199481	47199481	Human	1	name
156320528	CV1968505	single nucleotide variant	NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)	Infantile-onset X-linked spinal muscular atrophy [RCV002630311]	benign	X	47201603	47201603	Human	1	name
156416811	CV1970020	single nucleotide variant	NM_003334.4(UBA1):c.454G>A (p.Val152Ile)	Inborn genetic diseases [RCV004065609]\|Infantile-onset X-linked spinal muscular atrophy [RCV002589887]	benign\|likely benign	X	47199588	47199588	Human	2	name
155951015	CV2013990	single nucleotide variant	NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV002686022]	uncertain significance	X	47199582	47199582	Human	1	name
156106345	CV2061857	single nucleotide variant	NM_003334.4(UBA1):c.790C>G (p.Pro264Ala)	Infantile-onset X-linked spinal muscular atrophy [RCV002824745]	uncertain significance	X	47201589	47201589	Human	1	name
156248773	CV2106439	single nucleotide variant	NM_003334.4(UBA1):c.658A>G (p.Met220Val)	Infantile-onset X-linked spinal muscular atrophy [RCV002933469]	uncertain significance	X	47201346	47201346	Human	1	name
156301274	CV2170238	single nucleotide variant	NM_003334.4(UBA1):c.667A>G (p.Met223Val)	Infantile-onset X-linked spinal muscular atrophy [RCV003045563]	uncertain significance	X	47201355	47201355	Human	1	name
156347211	CV2315168	single nucleotide variant	NM_003334.4(UBA1):c.953C>T (p.Thr318Met)	Inborn genetic diseases [RCV002939331]	uncertain significance	X	47202401	47202401	Human	1	name
155932491	CV2400034	single nucleotide variant	NM_003334.4(UBA1):c.853G>A (p.Asp285Asn)	Inborn genetic diseases [RCV002774506]	uncertain significance	X	47202197	47202197	Human	1	name
401797422	CV2740954	microsatellite	NM_003334.4(UBA1):c.1939-171_1939-167del	not provided [RCV003322118]	uncertain significance	X	47209446	47209450	Human		name
401926873	CV2821599	single nucleotide variant	NM_003334.4(UBA1):c.3048A>C (p.Thr1016=)	not provided [RCV003438183]	likely benign	X	47214800	47214800	Human		name
401926876	CV2821601	single nucleotide variant	NM_003334.4(UBA1):c.3099G>A (p.Ala1033=)	not provided [RCV003438185]	likely benign	X	47214851	47214851	Human		name
402475515	CV2851520	single nucleotide variant	NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV003486297]	benign\|likely benign	X	47200915	47200915	Human	1	name
404979330	CV2892349	single nucleotide variant	NM_003334.4(UBA1):c.829A>G (p.Ile277Val)	Infantile-onset X-linked spinal muscular atrophy [RCV003511199]	uncertain significance	X	47202173	47202173	Human	1	name
402464622	CV2955792	single nucleotide variant	NM_003334.4(UBA1):c.484G>T (p.Val162Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV003622449]	uncertain significance	X	47200897	47200897	Human	1	name
402469633	CV3044117	single nucleotide variant	NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV003623762]	uncertain significance	X	47199540	47199540	Human	1	name
405171265	CV3061922	single nucleotide variant	NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV003622099]	uncertain significance	X	47200916	47200916	Human	1	name
405172572	CV3076161	single nucleotide variant	NM_003334.4(UBA1):c.3090C>T (p.His1030=)	Infantile-onset X-linked spinal muscular atrophy [RCV003622262]	likely benign	X	47214842	47214842	Human	1	name
405123379	CV3126342	single nucleotide variant	NM_003334.4(UBA1):c.572C>T (p.Thr191Met)	Infantile-onset X-linked spinal muscular atrophy [RCV003815094]	uncertain significance	X	47200985	47200985	Human	1	name
405016010	CV3138985	single nucleotide variant	NM_003334.4(UBA1):c.545G>A (p.Arg182His)	Infantile-onset X-linked spinal muscular atrophy [RCV003829322]	uncertain significance	X	47200958	47200958	Human	1	name
405056916	CV3147751	single nucleotide variant	NM_003334.4(UBA1):c.914C>G (p.Ser305Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV003849981]	uncertain significance	X	47202362	47202362	Human	1	name
402522509	CV3179546	single nucleotide variant	NM_003334.4(UBA1):c.3144C>T (p.Val1048=)	Infantile-onset X-linked spinal muscular atrophy [RCV003879798]	likely benign	X	47214896	47214896	Human	1	name
405690583	CV3227359	single nucleotide variant	NM_003334.4(UBA1):c.355C>T (p.Arg119Trp)	VEXAS syndrome [RCV003991703]	uncertain significance	X	47199489	47199489	Human	1	name
408365794	CV3510162	single nucleotide variant	NM_003334.4(UBA1):c.977C>G (p.Pro326Arg)	Infantile-onset X-linked spinal muscular atrophy [RCV005103734]\|UBA1-related disorder [RCV004755269]	uncertain significance	X	47202425	47202425	Human	1	name , trait , alternate_id
11630734	CV352253	single nucleotide variant	NM_003334.4(UBA1):c.430G>A (p.Val144Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV000357217]	benign\|likely benign	X	47199564	47199564	Human	1	name
596920756	CV3534232	single nucleotide variant	NM_003334.4(UBA1):c.694G>A (p.Val232Ile)	not specified [RCV004783451]	uncertain significance	X	47201493	47201493	Human		name
597635800	CV3625660	single nucleotide variant	NM_003334.4(UBA1):c.835G>A (p.Asp279Asn)	Inborn genetic diseases [RCV004969716]	uncertain significance	X	47202179	47202179	Human	1	name
597635803	CV3625661	single nucleotide variant	NM_003334.4(UBA1):c.349T>G (p.Tyr117Asp)	Inborn genetic diseases [RCV004969717]\|UBA1-related disorder [RCV005221152]	uncertain significance	X	47199483	47199483	Human	2	name , trait , alternate_id
597870109	CV3749848	single nucleotide variant	NM_003334.4(UBA1):c.454G>C (p.Val152Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV005068529]	uncertain significance	X	47199588	47199588	Human	1	name
597958712	CV3751956	single nucleotide variant	NM_003334.4(UBA1):c.400C>T (p.Arg134Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV005081086]	uncertain significance	X	47199534	47199534	Human	1	name
597943998	CV3754928	single nucleotide variant	NM_003334.4(UBA1):c.762G>C (p.Gln254His)	Infantile-onset X-linked spinal muscular atrophy [RCV005078117]	uncertain significance	X	47201561	47201561	Human	1	name
597898731	CV3774045	single nucleotide variant	NM_003334.4(UBA1):c.3153C>T (p.Pro1051=)	Infantile-onset X-linked spinal muscular atrophy [RCV005111766]	benign	X	47214905	47214905	Human	1	name
597938441	CV3788272	single nucleotide variant	NM_003334.4(UBA1):c.826A>G (p.Ser276Gly)	Infantile-onset X-linked spinal muscular atrophy [RCV005132947]	uncertain significance	X	47202170	47202170	Human	1	name
597870977	CV3799886	single nucleotide variant	NM_003334.4(UBA1):c.380G>T (p.Arg127Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV005148300]	uncertain significance	X	47199514	47199514	Human	1	name
597944300	CV3812525	single nucleotide variant	NM_003334.4(UBA1):c.716G>A (p.Arg239Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV005159735]	uncertain significance	X	47201515	47201515	Human	1	name
597937468	CV3862708	single nucleotide variant	NM_003334.4(UBA1):c.838A>T (p.Thr280Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV005207980]	uncertain significance	X	47202182	47202182	Human	1	name
598264587	CV3932569	single nucleotide variant	NM_003334.4(UBA1):c.635A>G (p.Asn212Ser)	Inborn genetic diseases [RCV005301571]	uncertain significance	X	47201323	47201323	Human	1	name
12906245	CV415787	single nucleotide variant	NM_003334.4(UBA1):c.842C>T (p.Ser281Phe)	not provided [RCV000488993]	uncertain significance	X	47202186	47202186	Human		name
13498369	CV471884	single nucleotide variant	NM_003334.4(UBA1):c.965A>G (p.Lys322Arg)	Inborn genetic diseases [RCV002384139]\|Infantile-onset X-linked spinal muscular atrophy [RCV000528531]	benign\|likely benign	X	47202413	47202413	Human	2	name
13523677	CV492757	single nucleotide variant	NM_003334.4(UBA1):c.878G>A (p.Ser293Asn)	Infantile-onset X-linked spinal muscular atrophy [RCV000700483]\|not provided [RCV000593311]	uncertain significance	X	47202222	47202222	Human	1	name
13540988	CV508286	single nucleotide variant	NM_003334.4(UBA1):c.3123C>T (p.Asn1041=)	Infantile-onset X-linked spinal muscular atrophy [RCV000934507]\|not specified [RCV000615507]	benign\|likely benign	X	47214875	47214875	Human	1	name
13609681	CV534820	single nucleotide variant	NM_003334.4(UBA1):c.734G>A (p.Gly245Glu)	Infantile-onset X-linked spinal muscular atrophy [RCV000640810]	uncertain significance	X	47201533	47201533	Human	1	name
13609706	CV534973	single nucleotide variant	NM_003334.4(UBA1):c.388G>C (p.Val130Leu)	Inborn genetic diseases [RCV002358817]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640823]	benign\|likely benign\|uncertain significance	X	47199522	47199522	Human	2	name
13609693	CV535171	single nucleotide variant	NM_003334.4(UBA1):c.442A>G (p.Thr148Ala)	Infantile-onset X-linked spinal muscular atrophy [RCV000640816]	benign	X	47199576	47199576	Human	1	name
13609686	CV535172	single nucleotide variant	NM_003334.4(UBA1):c.574C>T (p.Arg192Trp)	Inborn genetic diseases [RCV002343275]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640812]\|not provided [RCV004692002]	benign\|likely benign\|uncertain significance	X	47200987	47200987	Human	2	name
14727228	CV650060	single nucleotide variant	NM_003334.4(UBA1):c.559G>T (p.Val187Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV000815998]	uncertain significance	X	47200972	47200972	Human	1	name
26896718	CV850072	single nucleotide variant	NM_003334.4(UBA1):c.859A>G (p.Ile287Val)	Infantile-onset X-linked spinal muscular atrophy [RCV001048239]	uncertain significance	X	47202203	47202203	Human	1	name
26917807	CV850073	single nucleotide variant	NM_003334.4(UBA1):c.977C>T (p.Pro326Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV001057275]	uncertain significance	X	47202425	47202425	Human	1	name
28886488	CV903065	single nucleotide variant	NM_003334.4(UBA1):c.613G>A (p.Glu205Lys)	Infantile-onset X-linked spinal muscular atrophy [RCV001169076]	uncertain significance	X	47201301	47201301	Human	1	name
38488952	CV929736	single nucleotide variant	NM_003334.4(UBA1):c.499A>G (p.Thr167Ala)	Inborn genetic diseases [RCV002562526]\|Infantile-onset X-linked spinal muscular atrophy [RCV001221460]	uncertain significance	X	47200912	47200912	Human	2	name
38491587	CV929737	single nucleotide variant	NM_003334.4(UBA1):c.500C>T (p.Thr167Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV001222979]	uncertain significance	X	47200913	47200913	Human	1	name
38476786	CV929738	single nucleotide variant	NM_003334.4(UBA1):c.683A>G (p.Asn228Ser)	Inborn genetic diseases [RCV002365971]\|Infantile-onset X-linked spinal muscular atrophy [RCV001215817]	uncertain significance	X	47201482	47201482	Human	2	name
38458758	CV939601	single nucleotide variant	NM_003334.4(UBA1):c.632C>G (p.Ser211Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV001211489]	uncertain significance	X	47201320	47201320	Human	1	name
38498774	CV951808	single nucleotide variant	NM_003334.4(UBA1):c.406G>T (p.Ala136Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV001227969]	uncertain significance	X	47199540	47199540	Human	1	name
38462482	CV959308	single nucleotide variant	NM_003334.4(UBA1):c.904A>G (p.Ser302Gly)	Inborn genetic diseases [RCV003166553]\|Infantile-onset X-linked spinal muscular atrophy [RCV001247150]\|not provided [RCV001566843]	likely benign\|uncertain significance	X	47202248	47202248	Human	2	name
126747378	CV999791	single nucleotide variant	NM_003334.4(UBA1):c.575G>A (p.Arg192Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV001296725]	uncertain significance	X	47200988	47200988	Human	1	name
126763209	CV999792	single nucleotide variant	NM_003334.4(UBA1):c.733G>A (p.Gly245Arg)	Inborn genetic diseases [RCV002384356]\|Infantile-onset X-linked spinal muscular atrophy [RCV001300608]\|not provided [RCV004692442]	uncertain significance	X	47201532	47201532	Human	2	name
126730947	CV1014974	single nucleotide variant	NM_003334.4(UBA1):c.2252C>T (p.Pro751Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV001312952]	uncertain significance	X	47210894	47210894	Human	1	name
126727742	CV1014975	single nucleotide variant	NM_003334.4(UBA1):c.2575A>G (p.Met859Val)	Infantile-onset X-linked spinal muscular atrophy [RCV001312347]	uncertain significance	X	47212792	47212792	Human	1	name
126750719	CV1014976	single nucleotide variant	NM_003334.4(UBA1):c.2933A>G (p.Tyr978Cys)	Inborn genetic diseases [RCV002438711]\|Infantile-onset X-linked spinal muscular atrophy [RCV001315972]	uncertain significance	X	47214421	47214421	Human	2	name
126732823	CV1022169	single nucleotide variant	NM_003334.4(UBA1):c.2239C>T (p.Arg747Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV001334132]	uncertain significance	X	47210881	47210881	Human	1	name
126735662	CV1035543	single nucleotide variant	NM_003334.4(UBA1):c.1014G>C (p.Gln338His)	Infantile-onset X-linked spinal muscular atrophy [RCV001350116]	uncertain significance	X	47202462	47202462	Human	1	name
126753355	CV1035544	single nucleotide variant	NM_003334.4(UBA1):c.1115C>A (p.Ala372Glu)	Infantile-onset X-linked spinal muscular atrophy [RCV001338582]	uncertain significance	X	47202696	47202696	Human	1	name
126758650	CV1035545	single nucleotide variant	NM_003334.4(UBA1):c.1292G>C (p.Cys431Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV001339905]	uncertain significance	X	47203001	47203001	Human	1	name
126921617	CV1052448	single nucleotide variant	NM_003334.4(UBA1):c.1147A>T (p.Ile383Phe)	Inborn genetic diseases [RCV002456559]\|Infantile-onset X-linked spinal muscular atrophy [RCV001363701]\|Infantile-onset X-linked spinal muscular atrophy [RCV005394985]	uncertain significance	X	47202728	47202728	Human	2	name
126912271	CV1052449	single nucleotide variant	NM_003334.4(UBA1):c.2824G>A (p.Ala942Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV001369650]	uncertain significance	X	47213167	47213167	Human	1	name
127267742	CV1108410	single nucleotide variant	NM_003334.4(UBA1):c.2831G>A (p.Arg944His)	Infantile-onset X-linked spinal muscular atrophy [RCV001440613]	likely benign	X	47213174	47213174	Human	1	name
127319879	CV1159665	single nucleotide variant	NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV001522361]	benign	X	47202678	47202678	Human	1	name
127304821	CV1159667	single nucleotide variant	NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg)	Inborn genetic diseases [RCV002384862]\|Infantile-onset X-linked spinal muscular atrophy [RCV001516056]	benign\|uncertain significance	X	47203037	47203037	Human	2	name
127301806	CV1159671	single nucleotide variant	NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr)	Inborn genetic diseases [RCV002568027]\|Infantile-onset X-linked spinal muscular atrophy [RCV001514844]\|UBA1-related disorder [RCV003956159]	benign\|likely benign	X	47211210	47211210	Human	2	name , trait , alternate_id
127292286	CV1159673	single nucleotide variant	NM_003334.4(UBA1):c.2742G>C (p.Gln914His)	Infantile-onset X-linked spinal muscular atrophy [RCV001510796]	benign	X	47213085	47213085	Human	1	name
150541940	CV1307303	single nucleotide variant	NM_003334.4(UBA1):c.1687G>T (p.Asp563Tyr)	Infantile-onset X-linked spinal muscular atrophy [RCV002540691]\|not provided [RCV001768415]	uncertain significance	X	47206059	47206059	Human	1	name
150528993	CV1307484	single nucleotide variant	NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV001868761]\|not provided [RCV001755621]	uncertain significance	X	47202752	47202752	Human	1	name
150533045	CV1308328	single nucleotide variant	NM_003334.4(UBA1):c.1660C>T (p.Pro554Ser)	not provided [RCV001753319]	likely pathogenic	X	47206032	47206032	Human		name
150532357	CV1308543	single nucleotide variant	NM_003334.4(UBA1):c.1028A>G (p.His343Arg)	not provided [RCV001757588]	uncertain significance	X	47202476	47202476	Human		name
151802069	CV1351549	single nucleotide variant	NM_003334.4(UBA1):c.1765G>A (p.Val589Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV001973997]	uncertain significance	X	47206271	47206271	Human	1	name
151827302	CV1359967	single nucleotide variant	NM_003334.4(UBA1):c.1226T>C (p.Val409Ala)	Infantile-onset X-linked spinal muscular atrophy [RCV002050372]	uncertain significance	X	47202807	47202807	Human	1	name
151841777	CV1361391	single nucleotide variant	NM_003334.4(UBA1):c.1629C>G (p.Ile543Met)	Infantile-onset X-linked spinal muscular atrophy [RCV001881440]	uncertain significance	X	47206001	47206001	Human	1	name
151825279	CV1373418	single nucleotide variant	NM_003334.4(UBA1):c.2869C>T (p.Arg957Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV001934531]	uncertain significance	X	47214357	47214357	Human	1	name
151790185	CV1389079	single nucleotide variant	NM_003334.4(UBA1):c.1094T>C (p.Val365Ala)	Infantile-onset X-linked spinal muscular atrophy [RCV002010622]	uncertain significance	X	47202675	47202675	Human	1	name
151711978	CV1400152	single nucleotide variant	NM_003334.4(UBA1):c.2893C>G (p.Pro965Ala)	Inborn genetic diseases [RCV002441096]\|Infantile-onset X-linked spinal muscular atrophy [RCV002002167]	uncertain significance	X	47214381	47214381	Human	2	name
151849176	CV1402992	single nucleotide variant	NM_003334.4(UBA1):c.1953G>C (p.Glu651Asp)	Infantile-onset X-linked spinal muscular atrophy [RCV001882367]	uncertain significance	X	47209637	47209637	Human	1	name
151796373	CV1415801	single nucleotide variant	NM_003334.4(UBA1):c.1114G>A (p.Ala372Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV001898654]	uncertain significance	X	47202695	47202695	Human	1	name
151731802	CV1421410	single nucleotide variant	NM_003334.4(UBA1):c.2567A>G (p.Asn856Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV001892327]	uncertain significance	X	47212784	47212784	Human	1	name
151880565	CV1437001	single nucleotide variant	NM_003334.4(UBA1):c.2094G>T (p.Gln698His)	Infantile-onset X-linked spinal muscular atrophy [RCV001999504]	uncertain significance	X	47210018	47210018	Human	1	name
151723469	CV1442968	single nucleotide variant	NM_003334.4(UBA1):c.2842T>G (p.Tyr948Asp)	Inborn genetic diseases [RCV002441204]\|Infantile-onset X-linked spinal muscular atrophy [RCV002040387]	uncertain significance	X	47214330	47214330	Human	2	name
151855538	CV1448732	single nucleotide variant	NM_003334.4(UBA1):c.1054G>A (p.Glu352Lys)	Infantile-onset X-linked spinal muscular atrophy [RCV001979475]	uncertain significance	X	47202502	47202502	Human	1	name
151866384	CV1484609	single nucleotide variant	NM_003334.4(UBA1):c.2754G>C (p.Gln918His)	Infantile-onset X-linked spinal muscular atrophy [RCV001959882]	uncertain significance	X	47213097	47213097	Human	1	name
151721620	CV1491749	single nucleotide variant	NM_003334.4(UBA1):c.1617G>A (p.Met539Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV002003755]	uncertain significance	X	47205989	47205989	Human	1	name
151823934	CV1494423	single nucleotide variant	NM_003334.4(UBA1):c.1011C>G (p.His337Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV001955037]	uncertain significance	X	47202459	47202459	Human	1	name
151870472	CV1515618	single nucleotide variant	NM_003334.4(UBA1):c.1516G>A (p.Asp506Asn)	Infantile-onset X-linked spinal muscular atrophy [RCV001981230]	uncertain significance	X	47203637	47203637	Human	1	name
152040624	CV1577624	single nucleotide variant	NM_003334.4(UBA1):c.2813A>G (p.Glu938Gly)	Infantile-onset X-linked spinal muscular atrophy [RCV002107686]	likely benign	X	47213156	47213156	Human	1	name
152145743	CV1642189	single nucleotide variant	NM_003334.4(UBA1):c.1294C>T (p.Leu432Phe)	Inborn genetic diseases [RCV005288722]\|Infantile-onset X-linked spinal muscular atrophy [RCV002101438]	likely benign\|uncertain significance	X	47203003	47203003	Human	2	name
152065640	CV1654593	single nucleotide variant	NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV002191126]	benign	X	47211214	47211214	Human	1	name
152091770	CV1662263	single nucleotide variant	NM_003334.4(UBA1):c.1610G>A (p.Arg537His)	Inborn genetic diseases [RCV002391261]\|Infantile-onset X-linked spinal muscular atrophy [RCV002132132]	benign\|likely benign	X	47205982	47205982	Human	2	name
155677873	CV1826250	single nucleotide variant	NM_003334.4(UBA1):c.1349G>A (p.Arg450His)	Inborn genetic diseases [RCV002387896]\|not provided [RCV003992640]	uncertain significance	X	47203144	47203144	Human	1	name
155683188	CV1830192	single nucleotide variant	NM_003334.4(UBA1):c.1487A>T (p.Glu496Val)	Inborn genetic diseases [RCV002389603]	uncertain significance	X	47203608	47203608	Human	1	name
155681086	CV1839576	single nucleotide variant	NM_003334.4(UBA1):c.1963C>A (p.Leu655Ile)	Inborn genetic diseases [RCV002423352]\|Infantile-onset X-linked spinal muscular atrophy [RCV003509756]	uncertain significance	X	47209647	47209647	Human	2	name
155668677	CV1848767	single nucleotide variant	NM_003334.4(UBA1):c.2571T>G (p.Phe857Leu)	Inborn genetic diseases [RCV002452771]	uncertain significance	X	47212788	47212788	Human	1	name
155726978	CV1851278	single nucleotide variant	NM_003334.4(UBA1):c.2413G>A (p.Val805Ile)	Inborn genetic diseases [RCV002450354]\|Infantile-onset X-linked spinal muscular atrophy [RCV003101796]	uncertain significance	X	47211174	47211174	Human	2	name
156053626	CV1924028	single nucleotide variant	NM_003334.4(UBA1):c.2273A>G (p.Asn758Ser)	Inborn genetic diseases [RCV004070805]\|Infantile-onset X-linked spinal muscular atrophy [RCV002638028]	likely benign\|uncertain significance	X	47210915	47210915	Human	2	name
156296929	CV1924170	single nucleotide variant	NM_003334.4(UBA1):c.2096G>A (p.Arg699Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV002629057]	uncertain significance	X	47210020	47210020	Human	1	name
156448978	CV1944228	single nucleotide variant	NM_003334.4(UBA1):c.1090G>A (p.Ala364Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV003121087]	uncertain significance	X	47202671	47202671	Human	1	name
156412019	CV1970040	single nucleotide variant	NM_003334.4(UBA1):c.2621A>C (p.Asp874Ala)	Infantile-onset X-linked spinal muscular atrophy [RCV002608418]	uncertain significance	X	47212838	47212838	Human	1	name
156052021	CV1974408	single nucleotide variant	NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)	Infantile-onset X-linked spinal muscular atrophy [RCV002590692]	benign	X	47203604	47203604	Human	1	name
156416007	CV1983872	single nucleotide variant	NM_003334.4(UBA1):c.1612C>A (p.Gln538Lys)	Inborn genetic diseases [RCV004965985]\|Infantile-onset X-linked spinal muscular atrophy [RCV002609948]	uncertain significance	X	47205984	47205984	Human	2	name
156119962	CV2004128	single nucleotide variant	NM_003334.4(UBA1):c.1859C>G (p.Ser620Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV002662817]	uncertain significance	X	47206365	47206365	Human	1	name
155954214	CV2014196	single nucleotide variant	NM_003334.4(UBA1):c.2219C>T (p.Pro740Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV002686180]	uncertain significance	X	47210861	47210861	Human	1	name
156350467	CV2018717	single nucleotide variant	NM_003334.4(UBA1):c.2408C>T (p.Ser803Phe)	Infantile-onset X-linked spinal muscular atrophy [RCV002720145]	uncertain significance	X	47211169	47211169	Human	1	name
156321582	CV2067608	single nucleotide variant	NM_003334.4(UBA1):c.1288G>C (p.Glu430Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV002834734]	uncertain significance	X	47202997	47202997	Human	1	name
156262670	CV2095478	single nucleotide variant	NM_003334.4(UBA1):c.2077C>T (p.Arg693Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV002895639]\|not provided [RCV004763473]	uncertain significance	X	47210001	47210001	Human	1	name
156325233	CV2097518	single nucleotide variant	NM_003334.4(UBA1):c.1138G>A (p.Glu380Lys)	Inborn genetic diseases [RCV005301196]\|Infantile-onset X-linked spinal muscular atrophy [RCV002899585]	uncertain significance	X	47202719	47202719	Human	2	name
156215478	CV2107028	single nucleotide variant	NM_003334.4(UBA1):c.1043G>A (p.Arg348Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV002918344]	uncertain significance	X	47202491	47202491	Human	1	name
243061940	CV2407124	single nucleotide variant	NM_003334.4(UBA1):c.1592C>T (p.Thr531Met)	Infantile-onset X-linked spinal muscular atrophy [RCV003139207]	uncertain significance	X	47205964	47205964	Human	1	name
329351051	CV2477881	single nucleotide variant	NM_003334.4(UBA1):c.2687C>T (p.Thr896Met)	not provided [RCV003223994]	uncertain significance	X	47213030	47213030	Human		name
8598398	CV24819	single nucleotide variant	NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV000010434]	pathogenic\|uncertain significance	X	47205989	47205989	Human	1	name
8598399	CV24820	single nucleotide variant	NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)	Infantile-onset X-linked spinal muscular atrophy [RCV000010435]	pathogenic\|uncertain significance	X	47206011	47206011	Human	1	name
401727436	CV2736319	single nucleotide variant	NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV003621696]\|not provided [RCV003312767]	pathogenic\|uncertain significance	X	47203553	47203553	Human	1	name
401829472	CV2747416	single nucleotide variant	NM_003334.4(UBA1):c.1652G>A (p.Arg551His)	not provided [RCV003328881]	uncertain significance	X	47206024	47206024	Human		name
401854965	CV2752695	single nucleotide variant	NM_003334.4(UBA1):c.2897A>C (p.Asn966Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV003337749]	uncertain significance	X	47214385	47214385	Human	1	name
401931675	CV2801511	single nucleotide variant	NM_003334.4(UBA1):c.2639G>A (p.Arg880Gln)	UBA1-related disorder [RCV003391544]	uncertain significance	X	47212856	47212856	Human		name , trait , alternate_id
401931534	CV2803680	single nucleotide variant	NM_003334.4(UBA1):c.2878G>A (p.Val960Ile)	UBA1-related disorder [RCV003408350]	uncertain significance	X	47214366	47214366	Human		name , trait , alternate_id
401926869	CV2821596	single nucleotide variant	NM_003334.4(UBA1):c.1950T>A (p.Asp650Glu)	not provided [RCV003438180]	uncertain significance	X	47209634	47209634	Human		name
401926870	CV2821597	single nucleotide variant	NM_003334.4(UBA1):c.2276C>G (p.Pro759Arg)	not provided [RCV003438181]	uncertain significance	X	47211037	47211037	Human		name
401926872	CV2821598	single nucleotide variant	NM_003334.4(UBA1):c.2765A>T (p.Tyr922Phe)	not provided [RCV003438182]	uncertain significance	X	47213108	47213108	Human		name
404979905	CV2889367	single nucleotide variant	NM_003334.4(UBA1):c.1163A>G (p.Tyr388Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV003511272]	uncertain significance	X	47202744	47202744	Human	1	name
404980484	CV2894228	single nucleotide variant	NM_003334.4(UBA1):c.1115C>G (p.Ala372Gly)	Infantile-onset X-linked spinal muscular atrophy [RCV003511415]	uncertain significance	X	47202696	47202696	Human	1	name
402504260	CV2899194	single nucleotide variant	NM_003334.4(UBA1):c.1089G>T (p.Gln363His)	Infantile-onset X-linked spinal muscular atrophy [RCV003509097]	uncertain significance	X	47202670	47202670	Human	1	name
402464863	CV2971526	single nucleotide variant	NM_003334.4(UBA1):c.1252A>G (p.Met418Val)	Infantile-onset X-linked spinal muscular atrophy [RCV003622538]	uncertain significance	X	47202961	47202961	Human	1	name
402465325	CV2973137	single nucleotide variant	NM_003334.4(UBA1):c.1858T>C (p.Ser620Pro)	Infantile-onset X-linked spinal muscular atrophy [RCV003622628]\|not provided [RCV005256924]	uncertain significance	X	47206364	47206364	Human	1	name
402466207	CV2987188	single nucleotide variant	NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)	Infantile-onset X-linked spinal muscular atrophy [RCV003622877]	benign	X	47210058	47210058	Human	1	name
402467282	CV3011683	single nucleotide variant	NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)	Infantile-onset X-linked spinal muscular atrophy [RCV003623134]	uncertain significance	X	47203173	47203173	Human	1	name
402470014	CV3049248	single nucleotide variant	NM_003334.4(UBA1):c.2492C>T (p.Ala831Val)	Infantile-onset X-linked spinal muscular atrophy [RCV003623863]	uncertain significance	X	47212451	47212451	Human	1	name
402469829	CV3055353	single nucleotide variant	NM_003334.4(UBA1):c.2071G>C (p.Val691Leu)	Inborn genetic diseases [RCV004963789]\|Infantile-onset X-linked spinal muscular atrophy [RCV003623814]	uncertain significance	X	47209995	47209995	Human	2	name
402469970	CV3056224	single nucleotide variant	NM_003334.4(UBA1):c.2078G>A (p.Arg693His)	Infantile-onset X-linked spinal muscular atrophy [RCV003623852]	uncertain significance	X	47210002	47210002	Human	1	name
405170462	CV3064459	single nucleotide variant	NM_003334.4(UBA1):c.2365A>G (p.Thr789Ala)	Inborn genetic diseases [RCV005301358]\|Infantile-onset X-linked spinal muscular atrophy [RCV003622066]	likely benign\|uncertain significance	X	47211126	47211126	Human	2	name
405170474	CV3064607	single nucleotide variant	NM_003334.4(UBA1):c.2119G>A (p.Val707Met)	Infantile-onset X-linked spinal muscular atrophy [RCV003622067]\|Infantile-onset X-linked spinal muscular atrophy [RCV005392678]	uncertain significance	X	47210043	47210043	Human	1	name
405170410	CV3068219	single nucleotide variant	NM_003334.4(UBA1):c.1921A>G (p.Ile641Val)	Infantile-onset X-linked spinal muscular atrophy [RCV003622061]	uncertain significance	X	47206427	47206427	Human	1	name
405027891	CV3129791	single nucleotide variant	NM_003334.4(UBA1):c.1042C>T (p.Arg348Trp)	Infantile-onset X-linked spinal muscular atrophy [RCV003830389]	uncertain significance	X	47202490	47202490	Human	1	name
405032038	CV3130287	single nucleotide variant	NM_003334.4(UBA1):c.2701G>A (p.Val901Met)	Infantile-onset X-linked spinal muscular atrophy [RCV003830694]	uncertain significance	X	47213044	47213044	Human	1	name
405085215	CV3167284	single nucleotide variant	NM_003334.4(UBA1):c.2638C>T (p.Arg880Trp)	Infantile-onset X-linked spinal muscular atrophy [RCV003851865]	uncertain significance	X	47212855	47212855	Human	1	name
402482648	CV3170892	single nucleotide variant	NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)	Infantile-onset X-linked spinal muscular atrophy [RCV003876095]	uncertain significance	X	47214538	47214538	Human	1	name
402489463	CV3182301	single nucleotide variant	NM_003334.4(UBA1):c.2045C>G (p.Thr682Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV003876787]	uncertain significance	X	47209969	47209969	Human	1	name
405814148	CV3341145	single nucleotide variant	NM_003334.4(UBA1):c.1001A>C (p.Gln334Pro)	Inborn genetic diseases [RCV004484220]	likely benign	X	47202449	47202449	Human	1	name
405814151	CV3341146	single nucleotide variant	NM_003334.4(UBA1):c.1002G>C (p.Gln334His)	Inborn genetic diseases [RCV004484221]	likely benign	X	47202450	47202450	Human	1	name
405814153	CV3341147	single nucleotide variant	NM_003334.4(UBA1):c.1763G>C (p.Cys588Ser)	Inborn genetic diseases [RCV004484222]	uncertain significance	X	47206269	47206269	Human	1	name
407427983	CV3412275	single nucleotide variant	NM_003334.4(UBA1):c.1651C>T (p.Arg551Cys)	not provided [RCV004592446]	uncertain significance	X	47206023	47206023	Human		name
11627993	CV348766	single nucleotide variant	NM_003334.4(UBA1):c.1340G>A (p.Arg447His)	Infantile-onset X-linked spinal muscular atrophy [RCV000293475]\|not provided [RCV004713891]\|not specified [RCV000428872]	benign	X	47203135	47203135	Human	1	name
11630303	CV348768	single nucleotide variant	NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)	Inborn genetic diseases [RCV002392932]\|Infantile-onset X-linked spinal muscular atrophy [RCV000346007]\|not provided [RCV000523614]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	47203607	47203607	Human	2	name
11627692	CV348774	single nucleotide variant	NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)	Infantile-onset X-linked spinal muscular atrophy [RCV000287440]\|Infantile-onset X-linked spinal muscular atrophy [RCV002488833]\|UBA1-related disorder [RCV003932525]\|not provided [RCV001573066]\|not specified [RCV000610331]	benign\|likely benign	X	47206074	47206074	Human	1	name , trait , alternate_id
11630095	CV348779	single nucleotide variant	NM_003334.4(UBA1):c.2308A>C (p.Asn770His)	Infantile-onset X-linked spinal muscular atrophy [RCV000341212]\|UBA1-related disorder [RCV003957881]\|not provided [RCV000714142]	benign\|likely benign	X	47211069	47211069	Human	1	name , trait , alternate_id
408384214	CV3520049	single nucleotide variant	NM_003334.4(UBA1):c.1319C>G (p.Thr440Arg)	not provided [RCV004759870]	uncertain significance	X	47203028	47203028	Human		name
408385278	CV3520096	single nucleotide variant	NM_003334.4(UBA1):c.2542G>A (p.Asp848Asn)	not provided [RCV004759917]	uncertain significance	X	47212501	47212501	Human		name
408388938	CV3520891	single nucleotide variant	NM_003334.4(UBA1):c.2069C>G (p.Ala690Gly)	not provided [RCV004761724]	uncertain significance	X	47209993	47209993	Human		name
597633154	CV3552956	single nucleotide variant	NM_003334.4(UBA1):c.1676T>A (p.Ile559Asn)	Infantile-onset X-linked spinal muscular atrophy [RCV005061470]\|not provided [RCV004823786]	uncertain significance	X	47206048	47206048	Human	1	name
597635797	CV3625659	single nucleotide variant	NM_003334.4(UBA1):c.2251C>T (p.Pro751Ser)	Inborn genetic diseases [RCV004969715]	uncertain significance	X	47210893	47210893	Human	1	name
597840369	CV3737166	single nucleotide variant	NM_003334.4(UBA1):c.1628T>C (p.Ile543Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV005064646]	uncertain significance	X	47206000	47206000	Human	1	name
597874094	CV3747420	single nucleotide variant	NM_003334.4(UBA1):c.2626C>T (p.Pro876Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV005069104]	benign	X	47212843	47212843	Human	1	name
597943109	CV3757912	single nucleotide variant	NM_003334.4(UBA1):c.2147C>T (p.Thr716Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV005077911]	uncertain significance	X	47210071	47210071	Human	1	name
597936225	CV3764805	single nucleotide variant	NM_003334.4(UBA1):c.1031G>T (p.Gly344Val)	Infantile-onset X-linked spinal muscular atrophy [RCV005117504]	uncertain significance	X	47202479	47202479	Human	1	name
597906920	CV3773114	single nucleotide variant	NM_003334.4(UBA1):c.1878G>T (p.Glu626Asp)	Infantile-onset X-linked spinal muscular atrophy [RCV005113179]	uncertain significance	X	47206384	47206384	Human	1	name
597891018	CV3784930	single nucleotide variant	NM_003334.4(UBA1):c.1435A>C (p.Ile479Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV005125709]	uncertain significance	X	47203556	47203556	Human	1	name
597942473	CV3786232	single nucleotide variant	NM_003334.4(UBA1):c.1523T>C (p.Ile508Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV005133923]	uncertain significance	X	47203644	47203644	Human	1	name
597972374	CV3794195	single nucleotide variant	NM_003334.4(UBA1):c.1850C>T (p.Ser617Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV005142561]	uncertain significance	X	47206356	47206356	Human	1	name
597975161	CV3798773	single nucleotide variant	NM_003334.4(UBA1):c.2003C>T (p.Thr668Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV005144362]	uncertain significance	X	47209687	47209687	Human	1	name
12847557	CV380061	single nucleotide variant	NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg)	Infantile-onset X-linked spinal muscular atrophy [RCV001861629]\|not provided [RCV000443698]	uncertain significance	X	47211090	47211090	Human	1	name
597896528	CV3810552	single nucleotide variant	NM_003334.4(UBA1):c.1201A>T (p.Ile401Phe)	Infantile-onset X-linked spinal muscular atrophy [RCV005152077]	uncertain significance	X	47202782	47202782	Human	1	name
597968527	CV3820953	single nucleotide variant	NM_003334.4(UBA1):c.2405A>G (p.Lys802Arg)	Infantile-onset X-linked spinal muscular atrophy [RCV005165794]	uncertain significance	X	47211166	47211166	Human	1	name
597876662	CV3825669	single nucleotide variant	NM_003334.4(UBA1):c.1064C>T (p.Ala355Val)	Infantile-onset X-linked spinal muscular atrophy [RCV005177543]	uncertain significance	X	47202645	47202645	Human	1	name
597893072	CV3833378	single nucleotide variant	NM_003334.4(UBA1):c.1817A>G (p.Asn606Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV005180070]	uncertain significance	X	47206323	47206323	Human	1	name
597903445	CV3845951	single nucleotide variant	NM_003334.4(UBA1):c.2904G>C (p.Glu968Asp)	Infantile-onset X-linked spinal muscular atrophy [RCV005181573]	uncertain significance	X	47214392	47214392	Human	1	name
597905609	CV3846573	single nucleotide variant	NM_003334.4(UBA1):c.2750G>A (p.Arg917Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV005182000]	benign	X	47213093	47213093	Human	1	name
597895575	CV3853935	single nucleotide variant	NM_003334.4(UBA1):c.2670C>G (p.Ile890Met)	Infantile-onset X-linked spinal muscular atrophy [RCV005201218]	uncertain significance	X	47213013	47213013	Human	1	name
597917876	CV3861444	single nucleotide variant	NM_003334.4(UBA1):c.1383C>A (p.Asp461Glu)	Infantile-onset X-linked spinal muscular atrophy [RCV005204601]	uncertain significance	X	47203178	47203178	Human	1	name
598129378	CV3888674	single nucleotide variant	NM_003334.4(UBA1):c.2156C>T (p.Ser719Leu)	not provided [RCV005244848]	uncertain significance	X	47210080	47210080	Human		name
598160075	CV3897215	single nucleotide variant	NM_003334.4(UBA1):c.1672C>T (p.Arg558Cys)	not provided [RCV005368189]	uncertain significance	X	47206044	47206044	Human		name
598264584	CV3932567	single nucleotide variant	NM_003334.4(UBA1):c.1778A>C (p.Lys593Thr)	Inborn genetic diseases [RCV005301570]	uncertain significance	X	47206284	47206284	Human	1	name
598232579	CV3932568	single nucleotide variant	NM_003334.4(UBA1):c.1042C>G (p.Arg348Gly)	Inborn genetic diseases [RCV005295431]	uncertain significance	X	47202490	47202490	Human	1	name
13501282	CV470830	single nucleotide variant	NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV000540370]	uncertain significance	X	47202740	47202740	Human	1	name
13468285	CV471885	single nucleotide variant	NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV000557966]	uncertain significance	X	47206359	47206359	Human	1	name
13525307	CV508582	single nucleotide variant	NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV000640822]\|not provided [RCV004714093]\|not specified [RCV000602980]	benign	X	47211112	47211112	Human	1	name
13609688	CV534883	single nucleotide variant	NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu)	Infantile-onset X-linked spinal muscular atrophy [RCV000640813]	uncertain significance	X	47212839	47212839	Human	1	name
13609683	CV534981	single nucleotide variant	NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV000640811]	uncertain significance	X	47202496	47202496	Human	1	name
13609689	CV535173	single nucleotide variant	NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn)	Infantile-onset X-linked spinal muscular atrophy [RCV000640814]	uncertain significance	X	47203199	47203199	Human	1	name
13704842	CV539114	single nucleotide variant	NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV000662101]	uncertain significance	X	47213173	47213173	Human	1	name
13802267	CV572497	single nucleotide variant	NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV000700440]	uncertain significance	X	47206430	47206430	Human	1	name
13802281	CV572500	single nucleotide variant	NM_003334.4(UBA1):c.2474G>A (p.Arg825His)	Inborn genetic diseases [RCV005298592]\|Infantile-onset X-linked spinal muscular atrophy [RCV000704064]	uncertain significance	X	47212433	47212433	Human	2	name
13802276	CV574734	single nucleotide variant	NM_003334.4(UBA1):c.1049G>A (p.Arg350His)	Inborn genetic diseases [RCV002397453]\|Infantile-onset X-linked spinal muscular atrophy [RCV000701676]\|not provided [RCV001574157]	likely benign\|uncertain significance	X	47202497	47202497	Human	2	name
13802288	CV574736	single nucleotide variant	NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala)	Infantile-onset X-linked spinal muscular atrophy [RCV000706706]	uncertain significance	X	47212843	47212843	Human	1	name
13802254	CV575416	single nucleotide variant	NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp)	Infantile-onset X-linked spinal muscular atrophy [RCV000694636]	uncertain significance	X	47211213	47211213	Human	1	name
13802258	CV575417	single nucleotide variant	NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV000696150]	uncertain significance	X	47212499	47212499	Human	1	name
14723238	CV650061	single nucleotide variant	NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg)	Inborn genetic diseases [RCV005298613]\|Infantile-onset X-linked spinal muscular atrophy [RCV000797881]	uncertain significance	X	47202461	47202461	Human	2	name
14722815	CV650062	single nucleotide variant	NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp)	Infantile-onset X-linked spinal muscular atrophy [RCV000797702]	uncertain significance	X	47202481	47202481	Human	1	name
14715955	CV650063	single nucleotide variant	NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser)	Inborn genetic diseases [RCV002538097]\|Infantile-onset X-linked spinal muscular atrophy [RCV000811412]	uncertain significance	X	47202500	47202500	Human	2	name
14701776	CV650064	single nucleotide variant	NM_003334.4(UBA1):c.1117G>A (p.Val373Met)	Inborn genetic diseases [RCV003258981]\|Infantile-onset X-linked spinal muscular atrophy [RCV000806516]\|not provided [RCV000999410]	uncertain significance	X	47202698	47202698	Human	2	name
14733840	CV650065	single nucleotide variant	NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV000802456]	uncertain significance	X	47202732	47202732	Human	1	name
14729846	CV650066	single nucleotide variant	NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro)	Infantile-onset X-linked spinal muscular atrophy [RCV000817123]	uncertain significance	X	47203027	47203027	Human	1	name
14716726	CV650067	single nucleotide variant	NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr)	Infantile-onset X-linked spinal muscular atrophy [RCV000811668]	uncertain significance	X	47203590	47203590	Human	1	name
14734215	CV650068	single nucleotide variant	NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV000819019]	uncertain significance	X	47206102	47206102	Human	1	name
14727685	CV650069	single nucleotide variant	NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV000816186]	uncertain significance	X	47206281	47206281	Human	1	name
14734928	CV650070	single nucleotide variant	NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV000802942]	uncertain significance	X	47210912	47210912	Human	1	name
14721551	CV650071	single nucleotide variant	NM_003334.4(UBA1):c.2584A>G (p.Ile862Val)	Infantile-onset X-linked spinal muscular atrophy [RCV000813530]	uncertain significance	X	47212801	47212801	Human	1	name
14740166	CV650072	single nucleotide variant	NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu)	Inborn genetic diseases [RCV005286217]\|Infantile-onset X-linked spinal muscular atrophy [RCV000805242]	uncertain significance	X	47213093	47213093	Human	2	name
14726395	CV650073	single nucleotide variant	NM_003334.4(UBA1):c.2987T>A (p.Met996Lys)	Infantile-onset X-linked spinal muscular atrophy [RCV000815622]	uncertain significance	X	47214583	47214583	Human	1	name
15111973	CV694895	single nucleotide variant	NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr)	Inborn genetic diseases [RCV002454019]\|Infantile-onset X-linked spinal muscular atrophy [RCV000872433]	likely benign\|uncertain significance	X	47211060	47211060	Human	2	name
15129797	CV694898	single nucleotide variant	NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn)	Inborn genetic diseases [RCV002434151]\|Infantile-onset X-linked spinal muscular atrophy [RCV001510416]\|not provided [RCV000875704]	benign\|likely benign	X	47214417	47214417	Human	2	name
15192433	CV706240	single nucleotide variant	NM_003334.4(UBA1):c.2309A>G (p.Asn770Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV005092911]	likely benign	X	47211070	47211070	Human	1	name
15185657	CV774062	single nucleotide variant	NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg)	Inborn genetic diseases [RCV002382109]\|Infantile-onset X-linked spinal muscular atrophy [RCV000931121]	benign\|uncertain significance	X	47202952	47202952	Human	2	name
15174357	CV774063	single nucleotide variant	NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV001514130]	benign	X	47203134	47203134	Human	1	name
15200995	CV774064	single nucleotide variant	NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp)	Inborn genetic diseases [RCV002390962]\|Infantile-onset X-linked spinal muscular atrophy [RCV000935537]	likely benign	X	47203195	47203195	Human	2	name
15176893	CV774067	single nucleotide variant	NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV000929026]	benign	X	47211129	47211129	Human	1	name
26895861	CV850074	single nucleotide variant	NM_003334.4(UBA1):c.1131C>G (p.Asn377Lys)	Infantile-onset X-linked spinal muscular atrophy [RCV001069758]	uncertain significance	X	47202712	47202712	Human	1	name
26915369	CV850075	single nucleotide variant	NM_003334.4(UBA1):c.1313T>G (p.Val438Gly)	Infantile-onset X-linked spinal muscular atrophy [RCV001055665]	uncertain significance	X	47203022	47203022	Human	1	name
26901240	CV850077	single nucleotide variant	NM_003334.4(UBA1):c.2059G>A (p.Val687Met)	Inborn genetic diseases [RCV004963037]\|Infantile-onset X-linked spinal muscular atrophy [RCV001049813]	uncertain significance	X	47209983	47209983	Human	2	name
26915833	CV850078	single nucleotide variant	NM_003334.4(UBA1):c.2359G>A (p.Val787Met)	Infantile-onset X-linked spinal muscular atrophy [RCV001055975]\|not provided [RCV004792689]	uncertain significance	X	47211120	47211120	Human	1	name
26895390	CV850079	single nucleotide variant	NM_003334.4(UBA1):c.2878G>T (p.Val960Leu)	Inborn genetic diseases [RCV002436679]\|Infantile-onset X-linked spinal muscular atrophy [RCV001069618]	uncertain significance	X	47214366	47214366	Human	2	name
28876497	CV903067	single nucleotide variant	NM_003334.4(UBA1):c.1034G>A (p.Arg345Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV001166162]\|not provided [RCV004812383]	uncertain significance	X	47202482	47202482	Human	1	name
38461115	CV920028	single nucleotide variant	NM_003334.4(UBA1):c.1027C>T (p.His343Tyr)	Infantile-onset X-linked spinal muscular atrophy [RCV001197277]	uncertain significance	X	47202475	47202475	Human	1	name
38462819	CV920029	single nucleotide variant	NM_003334.4(UBA1):c.1630C>T (p.Arg544Trp)	Infantile-onset X-linked spinal muscular atrophy [RCV001198623]\|not specified [RCV003994231]	uncertain significance	X	47206002	47206002	Human	1	name
38476755	CV929739	single nucleotide variant	NM_003334.4(UBA1):c.1631G>A (p.Arg544Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV001215799]	uncertain significance	X	47206003	47206003	Human	1	name
38490827	CV929740	single nucleotide variant	NM_003334.4(UBA1):c.2504G>A (p.Ser835Asn)	Inborn genetic diseases [RCV002451516]\|Infantile-onset X-linked spinal muscular atrophy [RCV001222437]	uncertain significance	X	47212463	47212463	Human	2	name
38482367	CV939602	single nucleotide variant	NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV001207231]	benign\|uncertain significance	X	47202684	47202684	Human	1	name
38482156	CV939603	single nucleotide variant	NM_003334.4(UBA1):c.1189A>G (p.Ile397Val)	Inborn genetic diseases [RCV005286334]\|Infantile-onset X-linked spinal muscular atrophy [RCV001207174]	likely benign\|uncertain significance	X	47202770	47202770	Human	2	name
38474127	CV939604	single nucleotide variant	NM_003334.4(UBA1):c.1673G>A (p.Arg558His)	Infantile-onset X-linked spinal muscular atrophy [RCV001203682]	uncertain significance	X	47206045	47206045	Human	1	name
38464597	CV939605	single nucleotide variant	NM_003334.4(UBA1):c.2653C>A (p.Leu885Met)	Infantile-onset X-linked spinal muscular atrophy [RCV001201604]	uncertain significance	X	47212996	47212996	Human	1	name
38475515	CV951809	single nucleotide variant	NM_003334.4(UBA1):c.1115C>T (p.Ala372Val)	Infantile-onset X-linked spinal muscular atrophy [RCV001232670]	uncertain significance	X	47202696	47202696	Human	1	name
126727109	CV999793	single nucleotide variant	NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp)	Inborn genetic diseases [RCV004036262]\|Infantile-onset X-linked spinal muscular atrophy [RCV001303078]\|not provided [RCV003457992]	likely benign\|uncertain significance	X	47202731	47202731	Human	2	name
126750438	CV999794	single nucleotide variant	NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys)	Infantile-onset X-linked spinal muscular atrophy [RCV001306843]	uncertain significance	X	47214331	47214331	Human	1	name
126773790	CV1035547	single nucleotide variant	NM_003334.4(UBA1):c.3170T>G (p.Ile1057Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV001346477]	uncertain significance	X	47214922	47214922	Human	1	name
126920786	CV1052450	single nucleotide variant	NM_003334.4(UBA1):c.3173G>A (p.Arg1058His)	Infantile-onset X-linked spinal muscular atrophy [RCV001374013]	uncertain significance	X	47214925	47214925	Human	1	name
150550424	CV1308129	single nucleotide variant	NM_003334.4(UBA1):c.3103G>A (p.Val1035Met)	not provided [RCV001753119]	uncertain significance	X	47214855	47214855	Human		name
151233646	CV1317171	single nucleotide variant	NM_003334.4(UBA1):c.3085C>T (p.Arg1029Cys)	not provided [RCV001786992]	uncertain significance	X	47214837	47214837	Human		name
151848306	CV1362088	single nucleotide variant	NM_003334.4(UBA1):c.3133G>A (p.Gly1045Ser)	Infantile-onset X-linked spinal muscular atrophy [RCV001937016]	uncertain significance	X	47214885	47214885	Human	1	name
151788702	CV1377032	single nucleotide variant	NM_003334.4(UBA1):c.3008C>T (p.Pro1003Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV001897964]	uncertain significance	X	47214604	47214604	Human	1	name
156352435	CV1893301	single nucleotide variant	NM_003334.4(UBA1):c.3074G>A (p.Arg1025Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV003091085]	uncertain significance	X	47214826	47214826	Human	1	name
156107031	CV2008431	single nucleotide variant	NM_003334.4(UBA1):c.3091G>A (p.Val1031Met)	Inborn genetic diseases [RCV004681533]\|Infantile-onset X-linked spinal muscular atrophy [RCV002695519]	uncertain significance	X	47214843	47214843	Human	2	name
401718059	CV2689597	single nucleotide variant	NM_003334.4(UBA1):c.3006G>T (p.Met1002Ile)	Inborn genetic diseases [RCV003266350]	uncertain significance	X	47214602	47214602	Human	1	name
401926874	CV2821600	single nucleotide variant	NM_003334.4(UBA1):c.3065T>C (p.Val1022Ala)	not provided [RCV003438184]	uncertain significance	X	47214817	47214817	Human		name
402520207	CV2871488	single nucleotide variant	NM_003334.4(UBA1):c.3095G>A (p.Arg1032Gln)	Infantile-onset X-linked spinal muscular atrophy [RCV003510756]	uncertain significance	X	47214847	47214847	Human	1	name
402464581	CV2962160	single nucleotide variant	NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)	Infantile-onset X-linked spinal muscular atrophy [RCV003622438]	uncertain significance	X	47214929	47214929	Human	1	name
402467765	CV3010012	single nucleotide variant	NM_003334.4(UBA1):c.3091G>T (p.Val1031Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV003623262]	uncertain significance	X	47214843	47214843	Human	1	name
597903724	CV3784525	single nucleotide variant	NM_003334.4(UBA1):c.3019C>T (p.Leu1007Phe)	Infantile-onset X-linked spinal muscular atrophy [RCV005127576]	uncertain significance	X	47214615	47214615	Human	1	name
597932027	CV3837957	single nucleotide variant	NM_003334.4(UBA1):c.3136G>A (p.Glu1046Lys)	Infantile-onset X-linked spinal muscular atrophy [RCV005185926]	uncertain significance	X	47214888	47214888	Human	1	name
616939548	CV4014043	single nucleotide variant	NM_003334.4(UBA1):c.3161G>A (p.Arg1054Gln)	not provided [RCV005413535]	likely benign	X	47214913	47214913	Human		name
14706928	CV650074	single nucleotide variant	NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys)	Infantile-onset X-linked spinal muscular atrophy [RCV000792171]	uncertain significance	X	47214879	47214879	Human	1	name
26897986	CV822225	single nucleotide variant	NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV001034378]	benign	X	47214820	47214820	Human	1	name
402492666	CV3182621	indel	NM_003334.4(UBA1):c.1939-14_1939-13delinsAT	Infantile-onset X-linked spinal muscular atrophy [RCV003877108]	uncertain significance	X	47209609	47209610	Human		name
597932977	CV3780844	deletion	NM_003334.4(UBA1):c.455_457del (p.Val152del)	Infantile-onset X-linked spinal muscular atrophy [RCV005116956]	uncertain significance	X	47199588	47199590	Human	1	name
597975053	CV3798702	inversion	NM_003334.4(UBA1):c.752_753inv (p.Ser251Leu)	Infantile-onset X-linked spinal muscular atrophy [RCV005144290]	uncertain significance	X	47201551	47201552	Human		name
402486611	CV3171331	indel	NM_003334.4(UBA1):c.2455_2456delinsAT (p.Ala819Ile)	Infantile-onset X-linked spinal muscular atrophy [RCV003876358]	uncertain significance	X	47211216	47211217	Human		name

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